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Entry version 143 (13 Nov 2019)
Sequence version 1 (01 Mar 2003)
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Protein

Inactive histone-lysine N-methyltransferase 2E

Gene

KMT2E

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Associates with chromatin regions downstream of transcriptional start sites of active genes and thus regulates gene transcription (PubMed:23629655, PubMed:24130829, PubMed:23798402). Chromatin interaction is mediated via the binding to tri-methylated histone H3 at 'Lys-4' (H3K4me3) (PubMed:24130829, PubMed:23798402). Key regulator of hematopoiesis involved in terminal myeloid differentiation and in the regulation of hematopoietic stem cell (HSCs) self-renewal by a mechanism that involves DNA methylation (By similarity). Also acts as an important cell cycle regulator, participating in cell cycle regulatory network machinery at multiple cell cycle stages including G1/S transition, S phase progression and mitotic entry (PubMed:14718661, PubMed:18573682, PubMed:19264965, PubMed:23629655). Recruited to E2F1 responsive promoters by HCFC1 where it stimulates tri-methylation of histone H3 at 'Lys-4' and transcriptional activation and thereby facilitates G1 to S phase transition (PubMed:23629655). During myoblast differentiation, required to suppress inappropriate expression of S-phase-promoting genes and maintain expression of determination genes in quiescent cells (By similarity).By similarity5 Publications
Isoform NKp44L: Cellular ligand for NCR2/NKp44, may play a role as a danger signal in cytotoxicity and NK-cell-mediated innate immunity.1 Publication

Caution

Isoform 3 was originally thought to display histone methyltransferase activity only following O-glycosylation at Thr-440 (PubMed:19377461). However, the corresponding article has been retracted (PubMed:24336203). Does not exhibit histone methyltransferase towards histone H3 in vitro (PubMed:19264965, PubMed:27812132). The isolated catalytic SET domain lacks binding activity towards cofactor S-adenosyl-L-methionine; instead of the highly conserved XGXG, Y and NH motifs, KMT2E displays NKKI (Asn-339-Ile-342), F (Phe-381) and RR (Arg-408-Arg-409) motifs (PubMed:27812132). Also lacks binding activity towards histone H3 due to a poor conservation of the key residues involved in the binding and the presence of large loop which prevents the docking of the H3 'Lys-4' side chain (PubMed:27812132).4 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi121Zinc 1Combined sources2 Publications1
Metal bindingi123Zinc 1Combined sources2 Publications1
Metal bindingi135Zinc 2Combined sources2 Publications1
Metal bindingi138Zinc 2Combined sources2 Publications1
Metal bindingi143Zinc 1; via pros nitrogenCombined sources2 Publications1
Metal bindingi146Zinc 1Combined sources2 Publications1
Metal bindingi160Zinc 2Combined sources2 Publications1
Metal bindingi163Zinc 2Combined sources2 Publications1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri118 – 166PHD-typePROSITE-ProRule annotationAdd BLAST49

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionChromatin regulator
Biological processCell cycle, Growth arrest, Transcription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-3214841 PKMTs methylate histone lysines
R-HSA-8936459 RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Inactive histone-lysine N-methyltransferase 2ECurated
Short name:
Inactive lysine N-methyltransferase 2ECurated
Alternative name(s):
Myeloid/lymphoid or mixed-lineage leukemia protein 5
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:KMT2E
Synonyms:MLL5
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:18541 KMT2E

Online Mendelian Inheritance in Man (OMIM)

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MIMi
608444 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8IZD2

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Chromosome, Cytoplasm, Cytoskeleton, Membrane, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi63 – 66DHNY → AAAA: Abolishes interaction with HCFC1. 1 Publication4
Mutagenesisi125F → A: No effect on binding to tri-methylated 'Lys-4' of histone H3 (H3K4me3). 1 Publication1
Mutagenesisi128D → K: Severe reduction in the binding to tri-methylated 'Lys-4' of histone H3 (H3K4me3). 1 Publication1
Mutagenesisi131Y → A or K: Severe reduction in the binding to tri-methylated 'Lys-4' of histone H3 (H3K4me3). 1 Publication1
Mutagenesisi141W → A: Loss of binding to tri-methylated 'Lys-4' of histone H3 (H3K4me3). 1 Publication1
Mutagenesisi411C → A: Fails to activate the cell cycle regulated element (CCRE) in the cyclin A promoter. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
55904

Open Targets

More...
OpenTargetsi
ENSG00000005483

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA38568

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8IZD2

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
KMT2E

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74723669

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003414191 – 1858Inactive histone-lysine N-methyltransferase 2EAdd BLAST1858

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi435O-linked (GlcNAc) serine1 Publication1
Glycosylationi440O-linked (GlcNAc) threonine1 Publication1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei623PhosphoserineCombined sources1
Modified residuei837PhosphoserineCombined sources1
Modified residuei845PhosphoserineBy similarity1
Modified residuei1070PhosphoserineCombined sources1
Modified residuei1273PhosphoserineCombined sources1
Modified residuei1359PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Ubiquitinated. Deubiquitinated by USP7.1 Publication
O-glycosylated at Ser-435 and Thr-440 in the SET domain by OGT which probably prevents KMT2E proteasomal-mediated degradation.1 Publication

Keywords - PTMi

Glycoprotein, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8IZD2

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8IZD2

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q8IZD2

MaxQB - The MaxQuant DataBase

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MaxQBi
Q8IZD2

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q8IZD2

PeptideAtlas

More...
PeptideAtlasi
Q8IZD2

PRoteomics IDEntifications database

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PRIDEi
Q8IZD2

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
71322 [Q8IZD2-1]
71323 [Q8IZD2-2]
71324 [Q8IZD2-3]
71325 [Q8IZD2-4]
71326 [Q8IZD2-5]
71327 [Q8IZD2-6]
71328 [Q8IZD2-7]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8IZD2

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8IZD2

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed in both adult and fetal tissues (PubMed:12101424, PubMed:23958951). Highest levels of expression observed in fetal thymus and kidney and in adult hematopoietic tissues, jejunum and cerebellum (PubMed:12101424, PubMed:23958951). Isoform NKp44L: Not detected on circulating cells from healthy individuals, but is expressed on a large panel of tumor and transformed cells (PubMed:23958951).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000005483 Expressed in 213 organ(s), highest expression level in visceral pleura

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8IZD2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8IZD2 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA022812
HPA056125

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of a complex composed of KMT2E (isoform 3), OGT and USP7; the complex stabilizes KMT2E, preventing KMT2E ubiquitination and proteosomal-mediated degradation (PubMed:26678539). Isoform 3 interacts (via N-terminus) with OGT (via TRP repeats) (PubMed:26678539, PubMed:23629655).

Isoform 3 interacts with deubiquitinating enzyme USP7 (via MATH domain) (PubMed:26678539). Isoform 3 interacts (via HBM motif) with HCFC1 (via Kelch domain) (PubMed:23629655).

Isoform 3 interacts with E2F1; the interaction is probably indirect and is mediated via HCFC1 (PubMed:23629655).

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
120990, 41 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q8IZD2

Protein interaction database and analysis system

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IntActi
Q8IZD2, 11 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000312379

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11858
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q8IZD2

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini330 – 447SETPROSITE-ProRule annotationAdd BLAST118

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili559 – 615Sequence analysisAdd BLAST57

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi63 – 66HCFC1-binding motif (HBM)1 Publication4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1433 – 1846Pro-richSequence analysisAdd BLAST414

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The PHD-type domain binds specifically histone H3 tri-methylated at 'Lys-4' (H3K4me3), thus promoting binding to chromatin.2 Publications
The SET domain does not bind the methyl group donor S-adenosyl-L-methionine and histone 3 H3K4 peptide as a large loop prevents the docking of the 'Lys-4' side chain.1 Publication
The C-terminus domain is responsible for the localization to the centrosome during mitosis.1 Publication

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri118 – 166PHD-typePROSITE-ProRule annotationAdd BLAST49

Keywords - Domaini

Coiled coil, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1844 Eukaryota
COG2940 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000157862

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8IZD2

KEGG Orthology (KO)

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KOi
K09189

Identification of Orthologs from Complete Genome Data

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OMAi
PTHADIT

Database for complete collections of gene phylogenies

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PhylomeDBi
Q8IZD2

TreeFam database of animal gene trees

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TreeFami
TF106417

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.30.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR037955 KMT2E
IPR001214 SET_dom
IPR019786 Zinc_finger_PHD-type_CS
IPR011011 Znf_FYVE_PHD
IPR001965 Znf_PHD
IPR019787 Znf_PHD-finger
IPR013083 Znf_RING/FYVE/PHD

The PANTHER Classification System

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PANTHERi
PTHR46462:SF2 PTHR46462:SF2, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00628 PHD, 1 hit
PF00856 SET, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00249 PHD, 1 hit
SM00317 SET, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF57903 SSF57903, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50280 SET, 1 hit
PS01359 ZF_PHD_1, 1 hit
PS50016 ZF_PHD_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (8+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 8 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 8 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 12 Publications (identifier: Q8IZD2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

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        10         20         30         40         50
MSIVIPLGVD TAETSYLEMA AGSEPESVEA SPVVVEKSNS YPHQLYTSSS
60 70 80 90 100
HHSHSYIGLP YADHNYGARP PPTPPASPPP SVLISKNEVG IFTTPNFDET
110 120 130 140 150
SSATTISTSE DGSYGTDVTR CICGFTHDDG YMICCDKCSV WQHIDCMGID
160 170 180 190 200
RQHIPDTYLC ERCQPRNLDK ERAVLLQRRK RENMSDGDTS ATESGDEVPV
210 220 230 240 250
ELYTAFQHTP TSITLTASRV SKVNDKRRKK SGEKEQHISK CKKAFREGSR
260 270 280 290 300
KSSRVKGSAP EIDPSSDGSN FGWETKIKAW MDRYEEANNN QYSEGVQREA
310 320 330 340 350
QRIALRLGNG NDKKEMNKSD LNTNNLLFKP PVESHIQKNK KILKSAKDLP
360 370 380 390 400
PDALIIEYRG KFMLREQFEA NGYFFKRPYP FVLFYSKFHG LEMCVDARTF
410 420 430 440 450
GNEARFIRRS CTPNAEVRHE IQDGTIHLYI YSIHSIPKGT EITIAFDFDY
460 470 480 490 500
GNCKYKVDCA CLKENPECPV LKRSSESMEN INSGYETRRK KGKKDKDISK
510 520 530 540 550
EKDTQNQNIT LDCEGTTNKM KSPETKQRKL SPLRLSVSNN QEPDFIDDIE
560 570 580 590 600
EKTPISNEVE MESEEQIAER KRKMTREERK MEAILQAFAR LEKREKRREQ
610 620 630 640 650
ALERISTAKT EVKTECKDTQ IVSDAEVIQE QAKEENASKP TPAKVNRTKQ
660 670 680 690 700
RKSFSRSRTH IGQQRRRHRT VSMCSDIQPS SPDIEVTSQQ NDIENTVLTI
710 720 730 740 750
EPETETALAE IITETEVPAL NKCPTKYPKT KKHLVNEWLS EKNEKTGKPS
760 770 780 790 800
DGLSERPLRI TTDPEVLATQ LNSLPGLTYS PHVYSTPKHY IRFTSPFLSE
810 820 830 840 850
KRRRKEPTEN ISGSCKKRWL KQALEEENSA ILHRFNSPCQ ERSRSPAVNG
860 870 880 890 900
ENKSPLLLND SCSLPDLTTP LKKRRFYQLL DSVYSETSTP TPSPYATPTH
910 920 930 940 950
TDITPMDPSF ATPPRIKSDD ETCRNGYKPI YSPVTPVTPG TPGNTMHFEN
960 970 980 990 1000
ISSPESSPEI KRRTYSQEGY DRSSTMLTLG PFRNSNLTEL GLQEIKTIGY
1010 1020 1030 1040 1050
TSPRSRTEVN RQCPGEKEPV SDLQLGLDAV EPTALHKTLE TPAHDRAEPN
1060 1070 1080 1090 1100
SQLDSTHSGR GTMYSSWVKS PDRTGVNFSV NSNLRDLTPS HQLEVGGGFR
1110 1120 1130 1140 1150
ISESKCLMQD DTRGMFMETT VFCTSEDGLV SGFGRTVNDN LIDGNCTPQN
1160 1170 1180 1190 1200
PPQKKKVSLL EYRKRQREAR KSGSKTENFP LISVSPHASG SLSNNGDGCA
1210 1220 1230 1240 1250
SSNDNGEQVD HTASLPLPTP ATVYNATSEE TSNNCPVKDA TASEKNEPEV
1260 1270 1280 1290 1300
QWTASTSVEQ VRERSYQRAL LLSDHRKDKD SGGESPCVSC SPSHVQSSPS
1310 1320 1330 1340 1350
SHSNHIPQLQ AKGPVPSFSE LMEDPDPENP EPTTTNECPS PDTSQNTCKS
1360 1370 1380 1390 1400
PPKMSKPGSP GSVIPAQAHG KIFTKPDPQW DSTVSASEAE NGVHLKTELQ
1410 1420 1430 1440 1450
QKQLSNNNQA LSKNHPPQTH VRNSSEQLSQ KLPSVPTKLH CPPSPHLENP
1460 1470 1480 1490 1500
PKSSTPHTPV QHGYLSPKPP SQQLGSPYRP HHSQSPQVGT PQREPQRNFY
1510 1520 1530 1540 1550
PAAQNLPANT QQATSGTLFT QTPSGQSSAT YSQFNQQSLN STAPPPPPPP
1560 1570 1580 1590 1600
PPSSSYYQNQ QPSANFQNYN QLKGSLSQQT VFTSGPNQAL PGTTSQQTVP
1610 1620 1630 1640 1650
GHHVTPGHFL PSQNPTIHHQ TAAAVVPPPP PPPPAPGPHL VQQPNSHQQH
1660 1670 1680 1690 1700
SVAHVVGPVH AVTPGSHIHS QTAGHHLPPP PPPPGPAPHH HPPPHPSTGL
1710 1720 1730 1740 1750
QGLQAQHQHV VNSAPPPPPP PPPSSVLASG HHTTSAQALH HPPHQGPPLF
1760 1770 1780 1790 1800
PSSAHPTVPP YPSQATHHTT LGPGPQHQPS GTGPHCPLPV TGPHLQPQGP
1810 1820 1830 1840 1850
NSIPTPTASG FCPHPGSVAL PHGVQGPQQA SPVPGQIPIH RAQVPPTFQN

NYHGSGWH
Length:1,858
Mass (Da):204,965
Last modified:March 1, 2003 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i8ACCB3CDB5BFCEFA
GO
Isoform 21 Publication (identifier: Q8IZD2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     494-573: Missing.

Note: No experimental confirmation available.Curated
Show »
Length:1,778
Mass (Da):195,675
Checksum:iAEA0E38D5D008BE7
GO
Isoform 31 Publication (identifier: Q8IZD2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     575-609: TREERKMEAILQAFARLEKREKRREQALERISTAK → VSWEASSLGLVTAALHMVIVAAFTWAFTLFFEVSE
     610-1858: Missing.

Show »
Length:609
Mass (Da):68,926
Checksum:iCAC22E252873885E
GO
Isoform 41 Publication (identifier: Q8IZD2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     850-865: GENKSPLLLNDSCSLP → EYFFPRKFSRNKETHL
     866-1858: Missing.

Note: No experimental confirmation available.Curated
Show »
Length:865
Mass (Da):98,795
Checksum:i7E1470684F22660D
GO
Isoform 51 Publication (identifier: Q8IZD2-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1508-1653: ANTQQATSGT...PNSHQQHSVA → VFWLLGIIPH...DSKNIFLNVL
     1654-1858: Missing.

Show »
Length:1,653
Mass (Da):185,802
Checksum:i6AF69A147E64F516
GO
Isoform 61 Publication (identifier: Q8IZD2-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1443-1621: PSPHLENPPK...SQNPTIHHQT → SSPSTTPSIH...ALKWTPKTFF
     1622-1858: Missing.

Show »
Length:1,621
Mass (Da):180,779
Checksum:i97E5EB49B9961FEA
GO
Isoform 71 Publication (identifier: Q8IZD2-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1282-1323: Missing.

Note: No experimental confirmation available.Curated
Show »
Length:1,816
Mass (Da):200,635
Checksum:i16311FD3AC2DC1EF
GO
Isoform NKp44L1 Publication (identifier: Q8IZD2-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1157-1168: VSLLEYRKRQRE → SPVGNFVGSNVV
     1169-1858: Missing.

Show »
Length:1,168
Mass (Da):131,737
Checksum:iB5D59D07B6ED13FA
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
S4R363S4R363_HUMAN
Inactive histone-lysine N-methyltra...
KMT2E
144Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WYW5A0A087WYW5_HUMAN
Inactive histone-lysine N-methyltra...
KMT2E
453Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JYI9C9JYI9_HUMAN
Inactive histone-lysine N-methyltra...
KMT2E
352Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C4F3H7C4F3_HUMAN
Inactive histone-lysine N-methyltra...
KMT2E
125Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JNE1C9JNE1_HUMAN
Inactive histone-lysine N-methyltra...
KMT2E
230Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WAU9F8WAU9_HUMAN
Inactive histone-lysine N-methyltra...
KMT2E
144Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C5C4H7C5C4_HUMAN
Inactive histone-lysine N-methyltra...
KMT2E
21Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JQ68C9JQ68_HUMAN
Inactive histone-lysine N-methyltra...
KMT2E
71Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A590UK87A0A590UK87_HUMAN
Inactive histone-lysine N-methyltra...
KMT2E
238Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH01296 differs from that shown. Contaminating sequence. Potential poly-A sequence starting in position 492.Curated
The sequence AAH40004 differs from that shown. Contaminating sequence. Potential poly-A sequence starting in position 227.Curated
The sequence AAH53906 differs from that shown. Contaminating sequence. Potential poly-A sequence starting in position 227.Curated
The sequence AAI42988 differs from that shown. Contaminating sequence. Potential poly-A sequence starting in position 492.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti496K → E in AAM74947 (PubMed:12101424).Curated1
Sequence conflicti496K → E in AGE34449 (PubMed:23958951).Curated1
Sequence conflicti496K → E in AK000940 (PubMed:14702039).Curated1
Sequence conflicti516T → A in AAM74947 (PubMed:12101424).Curated1
Sequence conflicti516T → A in AGE34449 (PubMed:23958951).Curated1
Sequence conflicti516T → A in AK000940 (PubMed:14702039).Curated1
Sequence conflicti594R → K in AK000940 (PubMed:14702039).Curated1
Sequence conflicti1020V → A in AAM74947 (PubMed:12101424).Curated1
Sequence conflicti1073R → S in AAM74947 (PubMed:12101424).Curated1
Sequence conflicti1090S → P in AAM74947 (PubMed:12101424).Curated1
Sequence conflicti1099F → S in AAM74947 (PubMed:12101424).Curated1
Sequence conflicti1168E → K in AAM74947 (PubMed:12101424).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0526561424S → P. Corresponds to variant dbSNP:rs35605511Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_052803494 – 573Missing in isoform 2. 1 PublicationAdd BLAST80
Alternative sequenceiVSP_052804575 – 609TREER…ISTAK → VSWEASSLGLVTAALHMVIV AAFTWAFTLFFEVSE in isoform 3. 1 PublicationAdd BLAST35
Alternative sequenceiVSP_052805610 – 1858Missing in isoform 3. 1 PublicationAdd BLAST1249
Alternative sequenceiVSP_052806850 – 865GENKS…SCSLP → EYFFPRKFSRNKETHL in isoform 4. 1 PublicationAdd BLAST16
Alternative sequenceiVSP_052807866 – 1858Missing in isoform 4. 1 PublicationAdd BLAST993
Alternative sequenceiVSP_0538341157 – 1168VSLLE…KRQRE → SPVGNFVGSNVV in isoform NKp44L. 1 PublicationAdd BLAST12
Alternative sequenceiVSP_0538351169 – 1858Missing in isoform NKp44L. 1 PublicationAdd BLAST690
Alternative sequenceiVSP_0528081282 – 1323Missing in isoform 7. 1 PublicationAdd BLAST42
Alternative sequenceiVSP_0528091443 – 1621PSPHL…IHHQT → SSPSTTPSIHRTPRSTSTTP ACCKFSTPTTPSAATFQCFG FWASYHISSSLTPPTSSRTS TFSFECSSNCTTVSLTSYTS YHFGTGTPAPAFWNRATLSI TCHRSSSPAPRTKQYSNTYC FRVLSSSWLCGPATWGSRTS AGISSAWTDSNSQSTGATNI SKQLPWVRVALKWTPKTFF in isoform 6. 1 PublicationAdd BLAST179
Alternative sequenceiVSP_0528101508 – 1653ANTQQ…QHSVA → VFWLLGIIPHQLKPYTTHLI KDLHFFLRVLIQLYHRIPHK LHIIPLWDRDPSTSLLEQGH IVHYLSQVLISSPKDQTVFQ HLLLQGSVLILALWPCHMGF KDLSRHLQCLDRFQFTEHRC HQHFKTITMGQGGIKMDSKN IFLNVL in isoform 5. 1 PublicationAdd BLAST146
Alternative sequenceiVSP_0528111622 – 1858Missing in isoform 6. 1 PublicationAdd BLAST237
Alternative sequenceiVSP_0528121654 – 1858Missing in isoform 5. 1 PublicationAdd BLAST205

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF519459 mRNA Translation: AAM74947.1
JQ809698 mRNA Translation: AGE34449.1
AY147037 mRNA Translation: AAN17675.1
AY157990 mRNA Translation: AAN76325.1
AY195568 mRNA Translation: AAO47009.1
AY195569 mRNA Translation: AAO47010.1
AY222296 mRNA Translation: AAO64395.1
AY234382 mRNA Translation: AAO89072.1
AY438698 mRNA Translation: AAR13893.1
AC005065 Genomic DNA No translation available.
AC005070 Genomic DNA No translation available.
AC007384 Genomic DNA No translation available.
CH471070 Genomic DNA Translation: EAW83356.1
BC001296 mRNA Translation: AAH01296.1 Sequence problems.
BC040004 mRNA Translation: AAH40004.1 Sequence problems.
BC053906 mRNA Translation: AAH53906.1 Sequence problems.
BC062583 mRNA Translation: AAH62583.1
BC142987 mRNA Translation: AAI42988.1 Sequence problems.
AK000940 mRNA No translation available.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS34723.1 [Q8IZD2-1]

NCBI Reference Sequences

More...
RefSeqi
NP_061152.3, NM_018682.3 [Q8IZD2-1]
NP_891847.1, NM_182931.2 [Q8IZD2-1]
XP_005250550.1, XM_005250493.1 [Q8IZD2-1]
XP_011514702.1, XM_011516400.1 [Q8IZD2-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000257745; ENSP00000257745; ENSG00000005483 [Q8IZD2-1]
ENST00000311117; ENSP00000312379; ENSG00000005483 [Q8IZD2-1]
ENST00000334884; ENSP00000335398; ENSG00000005483 [Q8IZD2-4]
ENST00000476671; ENSP00000417888; ENSG00000005483 [Q8IZD2-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
55904

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:55904

UCSC genome browser

More...
UCSCi
uc003vcl.5 human [Q8IZD2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF519459 mRNA Translation: AAM74947.1
JQ809698 mRNA Translation: AGE34449.1
AY147037 mRNA Translation: AAN17675.1
AY157990 mRNA Translation: AAN76325.1
AY195568 mRNA Translation: AAO47009.1
AY195569 mRNA Translation: AAO47010.1
AY222296 mRNA Translation: AAO64395.1
AY234382 mRNA Translation: AAO89072.1
AY438698 mRNA Translation: AAR13893.1
AC005065 Genomic DNA No translation available.
AC005070 Genomic DNA No translation available.
AC007384 Genomic DNA No translation available.
CH471070 Genomic DNA Translation: EAW83356.1
BC001296 mRNA Translation: AAH01296.1 Sequence problems.
BC040004 mRNA Translation: AAH40004.1 Sequence problems.
BC053906 mRNA Translation: AAH53906.1 Sequence problems.
BC062583 mRNA Translation: AAH62583.1
BC142987 mRNA Translation: AAI42988.1 Sequence problems.
AK000940 mRNA No translation available.
CCDSiCCDS34723.1 [Q8IZD2-1]
RefSeqiNP_061152.3, NM_018682.3 [Q8IZD2-1]
NP_891847.1, NM_182931.2 [Q8IZD2-1]
XP_005250550.1, XM_005250493.1 [Q8IZD2-1]
XP_011514702.1, XM_011516400.1 [Q8IZD2-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2LV9NMR-A109-188[»]
4L58X-ray1.48A117-181[»]
5HT6X-ray2.09A/B323-458[»]
SMRiQ8IZD2
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi120990, 41 interactors
CORUMiQ8IZD2
IntActiQ8IZD2, 11 interactors
STRINGi9606.ENSP00000312379

PTM databases

iPTMnetiQ8IZD2
PhosphoSitePlusiQ8IZD2

Polymorphism and mutation databases

BioMutaiKMT2E
DMDMi74723669

Proteomic databases

EPDiQ8IZD2
jPOSTiQ8IZD2
MassIVEiQ8IZD2
MaxQBiQ8IZD2
PaxDbiQ8IZD2
PeptideAtlasiQ8IZD2
PRIDEiQ8IZD2
ProteomicsDBi71322 [Q8IZD2-1]
71323 [Q8IZD2-2]
71324 [Q8IZD2-3]
71325 [Q8IZD2-4]
71326 [Q8IZD2-5]
71327 [Q8IZD2-6]
71328 [Q8IZD2-7]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
55904

Genome annotation databases

EnsembliENST00000257745; ENSP00000257745; ENSG00000005483 [Q8IZD2-1]
ENST00000311117; ENSP00000312379; ENSG00000005483 [Q8IZD2-1]
ENST00000334884; ENSP00000335398; ENSG00000005483 [Q8IZD2-4]
ENST00000476671; ENSP00000417888; ENSG00000005483 [Q8IZD2-3]
GeneIDi55904
KEGGihsa:55904
UCSCiuc003vcl.5 human [Q8IZD2-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
55904
DisGeNETi55904

GeneCards: human genes, protein and diseases

More...
GeneCardsi
KMT2E
HGNCiHGNC:18541 KMT2E
HPAiHPA022812
HPA056125
MIMi608444 gene
neXtProtiNX_Q8IZD2
OpenTargetsiENSG00000005483
PharmGKBiPA38568

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1844 Eukaryota
COG2940 LUCA
GeneTreeiENSGT00940000157862
InParanoidiQ8IZD2
KOiK09189
OMAiPTHADIT
PhylomeDBiQ8IZD2
TreeFamiTF106417

Enzyme and pathway databases

ReactomeiR-HSA-3214841 PKMTs methylate histone lysines
R-HSA-8936459 RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
KMT2E human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
55904
PharosiQ8IZD2

Protein Ontology

More...
PROi
PR:Q8IZD2

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000005483 Expressed in 213 organ(s), highest expression level in visceral pleura
ExpressionAtlasiQ8IZD2 baseline and differential
GenevisibleiQ8IZD2 HS

Family and domain databases

Gene3Di3.30.40.10, 1 hit
InterProiView protein in InterPro
IPR037955 KMT2E
IPR001214 SET_dom
IPR019786 Zinc_finger_PHD-type_CS
IPR011011 Znf_FYVE_PHD
IPR001965 Znf_PHD
IPR019787 Znf_PHD-finger
IPR013083 Znf_RING/FYVE/PHD
PANTHERiPTHR46462:SF2 PTHR46462:SF2, 1 hit
PfamiView protein in Pfam
PF00628 PHD, 1 hit
PF00856 SET, 1 hit
SMARTiView protein in SMART
SM00249 PHD, 1 hit
SM00317 SET, 1 hit
SUPFAMiSSF57903 SSF57903, 1 hit
PROSITEiView protein in PROSITE
PS50280 SET, 1 hit
PS01359 ZF_PHD_1, 1 hit
PS50016 ZF_PHD_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiKMT2E_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8IZD2
Secondary accession number(s): B6ZDE4
, B6ZDM3, M4K8J3, Q6P5Y2, Q6PKG4, Q6T316, Q86TI3, Q86W12, Q86WG0, Q86WL2, Q8IV78, Q8IWR5, Q8NFF8, Q9NWE7
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 10, 2008
Last sequence update: March 1, 2003
Last modified: November 13, 2019
This is version 143 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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