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Entry version 174 (18 Sep 2019)
Sequence version 1 (01 Jun 2001)
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Protein

Histone-lysine N-methyltransferase NSD3

Gene

NSD3

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

Histone methyltransferase. Preferentially methylates 'Lys-4' and 'Lys-27' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation, while 'Lys-27' is a mark for transcriptional repression.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

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 fingeri701 – 748PHD-type 1PROSITE-ProRule annotationAdd BLAST48
Zinc fingeri749 – 805PHD-type 2PROSITE-ProRule annotationAdd BLAST57
Zinc fingeri862 – 955PHD-type 3PROSITE-ProRule annotationAdd BLAST94
Zinc fingeri1321 – 1368PHD-type 4; atypicalPROSITE-ProRule annotationAdd BLAST48

<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, Methyltransferase, Transferase
Biological processTranscription, Transcription regulation
LigandMetal-binding, S-adenosyl-L-methionine, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-3214841 PKMTs methylate histone lysines

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q9BZ95

<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:
Histone-lysine N-methyltransferase NSD3 (EC:2.1.1.43)
Alternative name(s):
Nuclear SET domain-containing protein 3
Protein whistle
WHSC1-like 1 isoform 9 with methyltransferase activity to lysine
Wolf-Hirschhorn syndrome candidate 1-like protein 1
Short name:
WHSC1-like protein 1
<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:NSD3Imported
Synonyms:WHSC1L1
ORF Names:DC28
<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 8

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:12767 NSD3

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607083 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9BZ95

<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

Chromosome, 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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Defects in NSD3 may be involved in non small cell lung carcinomas (NSCLC). Amplified or overexpressed in NSCLC.1 Publication
A chromosomal aberration involving NSD3 is found in childhood acute myeloid leukemia. Translocation t(8;11)(p11.2;p15) with NUP98.1 Publication

Keywords - Diseasei

Proto-oncogene

Organism-specific databases

DisGeNET

More...
DisGeNETi
54904

Open Targets

More...
OpenTargetsi
ENSG00000147548

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA37370

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3108646

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
WHSC1L1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74761342

<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_00002595211 – 1437Histone-lysine N-methyltransferase NSD3Add BLAST1437

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 residuei150PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki218Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki245Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki413Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei457PhosphoserineCombined sources1
Cross-linki502Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki532Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei585PhosphoserineCombined sources1
Modified residuei587PhosphoserineCombined sources1
Modified residuei590PhosphoserineCombined sources1
Cross-linki628Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei655PhosphoserineCombined sources1
Modified residuei790N6-acetyllysineCombined sources1
Cross-linki1151Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9BZ95

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9BZ95

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9BZ95

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9BZ95

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

More...
PaxDbi
Q9BZ95

PeptideAtlas

More...
PeptideAtlasi
Q9BZ95

PRoteomics IDEntifications database

More...
PRIDEi
Q9BZ95

ProteomicsDB human proteome resource

More...
ProteomicsDBi
7208
79779 [Q9BZ95-1]
79780 [Q9BZ95-2]
79781 [Q9BZ95-3]
79782 [Q9BZ95-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9BZ95

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

More...
PhosphoSitePlusi
Q9BZ95

<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

Highly expressed in brain, heart and skeletal muscle. Expressed at lower level in liver and lung.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000147548 Expressed in 209 organ(s), highest expression level in kidney

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9BZ95 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9BZ95 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB013721
HPA005659
HPA018893

<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

Interacts with BRD4.

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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
120250, 68 interactors

Database of interacting proteins

More...
DIPi
DIP-62074N

Protein interaction database and analysis system

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IntActi
Q9BZ95, 39 interactors

Molecular INTeraction database

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MINTi
Q9BZ95

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000313983

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q9BZ95

<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

11437
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
Q9BZ95

Database of comparative protein structure models

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ModBasei
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q9BZ95

<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>Domaini270 – 333PWWP 1PROSITE-ProRule annotationAdd BLAST64
Domaini960 – 1022PWWP 2PROSITE-ProRule annotationAdd BLAST63
Domaini1093 – 1143AWSPROSITE-ProRule annotationAdd BLAST51
Domaini1145 – 1262SETPROSITE-ProRule annotationAdd BLAST118
Domaini1269 – 1285Post-SETPROSITE-ProRule annotationAdd BLAST17

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 coili1033 – 1069Sequence analysisAdd BLAST37

<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 fingeri701 – 748PHD-type 1PROSITE-ProRule annotationAdd BLAST48
Zinc fingeri749 – 805PHD-type 2PROSITE-ProRule annotationAdd BLAST57
Zinc fingeri862 – 955PHD-type 3PROSITE-ProRule annotationAdd BLAST94
Zinc fingeri1321 – 1368PHD-type 4; atypicalPROSITE-ProRule annotationAdd BLAST48

Keywords - Domaini

Coiled coil, Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1081 Eukaryota
COG2940 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000155355

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9BZ95

KEGG Orthology (KO)

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KOi
K11425

Identification of Orthologs from Complete Genome Data

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OMAi
QKQMHED

Database of Orthologous Groups

More...
OrthoDBi
EOG091G00XD

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9BZ95

TreeFam database of animal gene trees

More...
TreeFami
TF329088

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.30.40.10, 2 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR006560 AWS_dom
IPR041306 C5HCH
IPR003616 Post-SET_dom
IPR000313 PWWP_dom
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

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF17907 AWS, 1 hit
PF17982 C5HCH, 1 hit
PF00855 PWWP, 2 hits
PF00856 SET, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00570 AWS, 1 hit
SM00249 PHD, 5 hits
SM00508 PostSET, 1 hit
SM00293 PWWP, 2 hits
SM00317 SET, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF57903 SSF57903, 3 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51215 AWS, 1 hit
PS50868 POST_SET, 1 hit
PS50812 PWWP, 2 hits
PS50280 SET, 1 hit
PS01359 ZF_PHD_1, 1 hit
PS50016 ZF_PHD_2, 2 hits

<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 (5+)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 5 <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 5 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9BZ95-1) [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.

« Hide
        10         20         30         40         50
MDFSFSFMQG IMGNTIQQPP QLIDSANIRQ EDAFDNNSDI AEDGGQTPYE
60 70 80 90 100
ATLQQGFQYP ATTEDLPPLT NGYPSSISVY ETQTKYQSYN QYPNGSANGF
110 120 130 140 150
GAVRNFSPTD YYHSEIPNTR PHEILEKPSP PQPPPPPSVP QTVIPKKTGS
160 170 180 190 200
PEIKLKITKT IQNGRELFES SLCGDLLNEV QASEHTKSKH ESRKEKRKKS
210 220 230 240 250
NKHDSSRSEE RKSHKIPKLE PEEQNRPNER VDTVSEKPRE EPVLKEEAPV
260 270 280 290 300
QPILSSVPTT EVSTGVKFQV GDLVWSKVGT YPWWPCMVSS DPQLEVHTKI
310 320 330 340 350
NTRGAREYHV QFFSNQPERA WVHEKRVREY KGHKQYEELL AEATKQASNH
360 370 380 390 400
SEKQKIRKPR PQRERAQWDI GIAHAEKALK MTREERIEQY TFIYIDKQPE
410 420 430 440 450
EALSQAKKSV ASKTEVKKTR RPRSVLNTQP EQTNAGEVAS SLSSTEIRRH
460 470 480 490 500
SQRRHTSAEE EEPPPVKIAW KTAAARKSLP ASITMHKGSL DLQKCNMSPV
510 520 530 540 550
VKIEQVFALQ NATGDGKFID QFVYSTKGIG NKTEISVRGQ DRLIISTPNQ
560 570 580 590 600
RNEKPTQSVS SPEATSGSTG SVEKKQQRRS IRTRSESEKS TEVVPKKKIK
610 620 630 640 650
KEQVETVPQA TVKTGLQKGA SEISDSCKPL KKRSRASTDV EMTSSAYRDT
660 670 680 690 700
SDSDSRGLSD LQVGFGKQVD SPSATADADV SDVQSMDSSL SRRGTGMSKK
710 720 730 740 750
DTVCQICESS GDSLIPCEGE CCKHFHLECL GLASLPDSKF ICMECKTGQH
760 770 780 790 800
PCFSCKVSGK DVKRCSVGAC GKFYHEACVR KFPTAIFESK GFRCPQHCCS
810 820 830 840 850
ACSMEKDIHK ASKGRMMRCL RCPVAYHSGD ACIAAGSMLV SSYILICSNH
860 870 880 890 900
SKRSSNSSAV NVGFCFVCAR GLIVQDHSDP MFSSYAYKSH YLLNESNRAE
910 920 930 940 950
LMKLPMIPSS SASKKKCEKG GRLLCCESCP ASFHPECLSI EMPEGCWNCN
960 970 980 990 1000
DCKAGKKLHY KQIVWVKLGN YRWWPAEICN PRSVPLNIQG LKHDLGDFPV
1010 1020 1030 1040 1050
FFFGSHDYYW VHQGRVFPYV EGDKSFAEGQ TSINKTFKKA LEEAAKRFQE
1060 1070 1080 1090 1100
LKAQRESKEA LEIEKNSRKP PPYKHIKANK VIGKVQIQVA DLSEIPRCNC
1110 1120 1130 1140 1150
KPADENPCGL ESECLNRMLQ YECHPQVCPA GDRCQNQCFT KRLYPDAEII
1160 1170 1180 1190 1200
KTERRGWGLR TKRSIKKGEF VNEYVGELID EEECRLRIKR AHENSVTNFY
1210 1220 1230 1240 1250
MLTVTKDRII DAGPKGNYSR FMNHSCNPNC ETQKWTVNGD VRVGLFALCD
1260 1270 1280 1290 1300
IPAGMELTFN YNLDCLGNGR TECHCGADNC SGFLGVRPKS ACASTNEEKA
1310 1320 1330 1340 1350
KNAKLKQKRR KIKTEPKQMH EDYCFQCGDG GELVMCDKKD CPKAYHLLCL
1360 1370 1380 1390 1400
NLTQPPYGKW ECPWHQCDEC SSAAVSFCEF CPHSFCKDHE KGALVPSALE
1410 1420 1430
GRLCCSEHDP MAPVSPEYWS KIKCKWESQD HGEEVKE
Length:1,437
Mass (Da):161,613
Last modified:June 1, 2001 - 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:i87E54997A996F7CC
GO
Isoform 2 (identifier: Q9BZ95-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     871-919: Missing.

Show »
Length:1,388
Mass (Da):156,070
Checksum:i0832BD51DAB0DCFF
GO
Isoform 3 (identifier: Q9BZ95-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     620-645: ASEISDSCKPLKKRSRASTDVEMTSS → SADRGVQGSVRFSDSSVSAAIEETVD
     646-1437: Missing.

Show »
Length:645
Mass (Da):72,621
Checksum:iDE98E24AB088AC91
GO
Isoform 4 (identifier: Q9BZ95-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     67-129: Missing.

Note: No experimental confirmation available.
Show »
Length:1,374
Mass (Da):154,519
Checksum:i3013E618C16E19E0
GO
Isoform 5 (identifier: Q9BZ95-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1196-1206: Missing.

Note: No experimental confirmation available.
Show »
Length:1,426
Mass (Da):160,314
Checksum:i9CB22AD6F0A765A7
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YE68H0YE68_HUMAN
Histone-lysine N-methyltransferase ...
NSD3
77Annotation 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>
E9PKA2E9PKA2_HUMAN
Histone-lysine N-methyltransferase ...
NSD3
282Annotation 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>
E9PQ95E9PQ95_HUMAN
Histone-lysine N-methyltransferase ...
NSD3
25Annotation 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>
E9PKL3E9PKL3_HUMAN
Histone-lysine N-methyltransferase ...
NSD3
15Annotation 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 AAG44637 differs from that shown. Reason: Frameshift at several positions.Curated
The sequence AAI07735 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence BAA91110 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.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 conflicti436G → R in AAI15007 (PubMed:15489334).Curated1
Sequence conflicti578R → G in AAI15007 (PubMed:15489334).Curated1
Sequence conflicti829G → E in CAC28350 (PubMed:11374904).Curated1
Sequence conflicti829G → E in CAC28351 (PubMed:11374904).Curated1
Sequence conflicti926C → R in AAI15007 (PubMed:15489334).Curated1
Sequence conflicti1308K → R in AAI15007 (PubMed:15489334).Curated1
Sequence conflicti1430D → G in AAI15007 (PubMed:15489334).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_061215186T → M. Corresponds to variant dbSNP:rs13034Ensembl.1
Natural variantiVAR_028950383R → P. Corresponds to variant dbSNP:rs2234552Ensembl.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_02142767 – 129Missing in isoform 4. 1 PublicationAdd BLAST63
Alternative sequenceiVSP_021428620 – 645ASEIS…EMTSS → SADRGVQGSVRFSDSSVSAA IEETVD in isoform 3. 5 PublicationsAdd BLAST26
Alternative sequenceiVSP_021429646 – 1437Missing in isoform 3. 5 PublicationsAdd BLAST792
Alternative sequenceiVSP_021430871 – 919Missing in isoform 2. 1 PublicationAdd BLAST49
Alternative sequenceiVSP_0544891196 – 1206Missing in isoform 5. 1 PublicationAdd BLAST11

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
AF332468 mRNA Translation: AAK00354.1
AF332469 mRNA Translation: AAK00355.1
AJ295990 mRNA Translation: CAC28350.1
AJ295991 mRNA Translation: CAC28351.1
AJ295992 mRNA Translation: CAC28352.1
AF255649 mRNA Translation: AAG44637.1 Frameshift.
AK000360 mRNA Translation: BAA91110.1 Different initiation.
AK022560 mRNA Translation: BAB14099.1
AK127594 mRNA No translation available.
CH471080 Genomic DNA Translation: EAW63320.1
CH471080 Genomic DNA Translation: EAW63321.1
BC012059 mRNA Translation: AAH12059.1
BC062631 mRNA Translation: AAH62631.1
BC101717 mRNA Translation: AAI01718.1
BC107734 mRNA Translation: AAI07735.1 Sequence problems.
BC113469 mRNA Translation: AAI13470.1
BC115006 mRNA Translation: AAI15007.1
BC143510 mRNA Translation: AAI43511.1
AC087362 Genomic DNA No translation available.
AC087623 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS43729.1 [Q9BZ95-1]
CCDS6105.1 [Q9BZ95-3]

NCBI Reference Sequences

More...
RefSeqi
NP_060248.2, NM_017778.2 [Q9BZ95-3]
NP_075447.1, NM_023034.1 [Q9BZ95-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000316985; ENSP00000313410; ENSG00000147548 [Q9BZ95-3]
ENST00000317025; ENSP00000313983; ENSG00000147548 [Q9BZ95-1]
ENST00000433384; ENSP00000393284; ENSG00000147548 [Q9BZ95-2]
ENST00000527502; ENSP00000434730; ENSG00000147548 [Q9BZ95-5]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
54904

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:54904

UCSC genome browser

More...
UCSCi
uc003xli.4 human [Q9BZ95-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, 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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF332468 mRNA Translation: AAK00354.1
AF332469 mRNA Translation: AAK00355.1
AJ295990 mRNA Translation: CAC28350.1
AJ295991 mRNA Translation: CAC28351.1
AJ295992 mRNA Translation: CAC28352.1
AF255649 mRNA Translation: AAG44637.1 Frameshift.
AK000360 mRNA Translation: BAA91110.1 Different initiation.
AK022560 mRNA Translation: BAB14099.1
AK127594 mRNA No translation available.
CH471080 Genomic DNA Translation: EAW63320.1
CH471080 Genomic DNA Translation: EAW63321.1
BC012059 mRNA Translation: AAH12059.1
BC062631 mRNA Translation: AAH62631.1
BC101717 mRNA Translation: AAI01718.1
BC107734 mRNA Translation: AAI07735.1 Sequence problems.
BC113469 mRNA Translation: AAI13470.1
BC115006 mRNA Translation: AAI15007.1
BC143510 mRNA Translation: AAI43511.1
AC087362 Genomic DNA No translation available.
AC087623 Genomic DNA No translation available.
CCDSiCCDS43729.1 [Q9BZ95-1]
CCDS6105.1 [Q9BZ95-3]
RefSeqiNP_060248.2, NM_017778.2 [Q9BZ95-3]
NP_075447.1, NM_023034.1 [Q9BZ95-1]

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
2DAQNMR-A957-1053[»]
2NCZNMR-B152-163[»]
2ND1NMR-B593-605[»]
4GNDX-ray2.27A/C1310-1413[»]
4GNEX-ray1.47A1310-1413[»]
4GNFX-ray1.55A1310-1413[»]
4GNGX-ray1.73A/D1310-1413[»]
4RXJX-ray2.10A953-1064[»]
5UPDX-ray1.80A1054-1285[»]
6CENX-ray1.61A1058-1285[»]
6G24X-ray2.10A263-398[»]
6G25X-ray1.43A263-398[»]
6G27X-ray1.65A263-398[»]
6G29X-ray1.70A263-398[»]
6G2BX-ray1.61A263-398[»]
6G2CX-ray1.76A263-398[»]
6G2EX-ray1.85A263-398[»]
6G2FX-ray1.74A263-398[»]
6G2OX-ray1.81A263-398[»]
6G3PX-ray2.80A/B/C/D247-398[»]
6G3TX-ray2.53A/B/C/D247-398[»]
SMRiQ9BZ95
ModBaseiSearch...

Protein-protein interaction databases

BioGridi120250, 68 interactors
DIPiDIP-62074N
IntActiQ9BZ95, 39 interactors
MINTiQ9BZ95
STRINGi9606.ENSP00000313983

Chemistry databases

BindingDBiQ9BZ95
ChEMBLiCHEMBL3108646

PTM databases

iPTMnetiQ9BZ95
PhosphoSitePlusiQ9BZ95

Polymorphism and mutation databases

BioMutaiWHSC1L1
DMDMi74761342

Proteomic databases

EPDiQ9BZ95
jPOSTiQ9BZ95
MassIVEiQ9BZ95
MaxQBiQ9BZ95
PaxDbiQ9BZ95
PeptideAtlasiQ9BZ95
PRIDEiQ9BZ95
ProteomicsDBi7208
79779 [Q9BZ95-1]
79780 [Q9BZ95-2]
79781 [Q9BZ95-3]
79782 [Q9BZ95-4]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
54904
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000316985; ENSP00000313410; ENSG00000147548 [Q9BZ95-3]
ENST00000317025; ENSP00000313983; ENSG00000147548 [Q9BZ95-1]
ENST00000433384; ENSP00000393284; ENSG00000147548 [Q9BZ95-2]
ENST00000527502; ENSP00000434730; ENSG00000147548 [Q9BZ95-5]
GeneIDi54904
KEGGihsa:54904
UCSCiuc003xli.4 human [Q9BZ95-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
54904
DisGeNETi54904

GeneCards: human genes, protein and diseases

More...
GeneCardsi
NSD3
HGNCiHGNC:12767 NSD3
HPAiCAB013721
HPA005659
HPA018893
MIMi607083 gene
neXtProtiNX_Q9BZ95
OpenTargetsiENSG00000147548
PharmGKBiPA37370

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1081 Eukaryota
COG2940 LUCA
GeneTreeiENSGT00940000155355
InParanoidiQ9BZ95
KOiK11425
OMAiQKQMHED
OrthoDBiEOG091G00XD
PhylomeDBiQ9BZ95
TreeFamiTF329088

Enzyme and pathway databases

ReactomeiR-HSA-3214841 PKMTs methylate histone lysines
SIGNORiQ9BZ95

Miscellaneous databases

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

More...
ChiTaRSi
WHSC1L1 human
EvolutionaryTraceiQ9BZ95

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
WHSC1L1

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

More...
GenomeRNAii
54904

Pharos

More...
Pharosi
Q9BZ95

Protein Ontology

More...
PROi
PR:Q9BZ95

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000147548 Expressed in 209 organ(s), highest expression level in kidney
ExpressionAtlasiQ9BZ95 baseline and differential
GenevisibleiQ9BZ95 HS

Family and domain databases

Gene3Di3.30.40.10, 2 hits
InterProiView protein in InterPro
IPR006560 AWS_dom
IPR041306 C5HCH
IPR003616 Post-SET_dom
IPR000313 PWWP_dom
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
PfamiView protein in Pfam
PF17907 AWS, 1 hit
PF17982 C5HCH, 1 hit
PF00855 PWWP, 2 hits
PF00856 SET, 1 hit
SMARTiView protein in SMART
SM00570 AWS, 1 hit
SM00249 PHD, 5 hits
SM00508 PostSET, 1 hit
SM00293 PWWP, 2 hits
SM00317 SET, 1 hit
SUPFAMiSSF57903 SSF57903, 3 hits
PROSITEiView protein in PROSITE
PS51215 AWS, 1 hit
PS50868 POST_SET, 1 hit
PS50812 PWWP, 2 hits
PS50280 SET, 1 hit
PS01359 ZF_PHD_1, 1 hit
PS50016 ZF_PHD_2, 2 hits

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 nameiNSD3_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: Q9BZ95
Secondary accession number(s): B7ZL11
, D3DSX1, Q1RMD3, Q3B796, Q6ZSA5, Q9BYU8, Q9BYU9, Q9H2M8, Q9H9W9, Q9NXA6
<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: October 31, 2006
Last sequence update: June 1, 2001
Last modified: September 18, 2019
This is version 174 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 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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