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Entry version 172 (03 Jul 2019)
Sequence version 3 (21 Jun 2005)
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Protein

Histone-lysine N-methyltransferase SETD1A

Gene

SETD1A

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 that specifically methylates 'Lys-4' of histone H3, when part of the SET1 histone methyltransferase (HMT) complex, but not if the neighboring 'Lys-9' residue is already methylated. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. The non-overlapping localization with SETD1B suggests that SETD1A and SETD1B make non-redundant contributions to the epigenetic control of chromatin structure and gene expression.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

<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 functionActivator, Chromatin regulator, Methyltransferase, RNA-binding, Transferase
Biological processTranscription, Transcription regulation
LigandS-adenosyl-L-methionine

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
2.1.1.43 2681

Reactome - a knowledgebase of biological pathways and processes

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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:
Histone-lysine N-methyltransferase SETD1A (EC:2.1.1.43)
Alternative name(s):
Lysine N-methyltransferase 2F
SET domain-containing protein 1A
Short name:
hSET1A
Set1/Ash2 histone methyltransferase complex subunit SET1
<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:SETD1A
Synonyms:KIAA0339Imported, KMT2F, SET1, SET1A
<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 16

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29010 SETD1A

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
611052 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O15047

<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

Organism-specific databases

DisGeNET

More...
DisGeNETi
9739

MalaCards human disease database

More...
MalaCardsi
SETD1A

Open Targets

More...
OpenTargetsi
ENSG00000099381

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA128394556

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL4105954

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SETD1A

<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_00001860561 – 1707Histone-lysine N-methyltransferase SETD1AAdd BLAST1707

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 residuei459PhosphoserineCombined sources1
Modified residuei464PhosphoserineCombined sources1
Modified residuei508PhosphoserineCombined sources1
Modified residuei565PhosphoserineCombined sources1
Modified residuei915PhosphoserineCombined sources1
Modified residuei1103PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
O15047

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O15047

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O15047

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

More...
PaxDbi
O15047

PeptideAtlas

More...
PeptideAtlasi
O15047

PRoteomics IDEntifications database

More...
PRIDEi
O15047

ProteomicsDB human proteome resource

More...
ProteomicsDBi
48400

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O15047

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

More...
PhosphoSitePlusi
O15047

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000099381 Expressed in 199 organ(s), highest expression level in paraflocculus

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O15047 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O15047 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA020646
HPA058376

<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 the SET1 complex, at least composed of the catalytic subunit (SETD1A or SETD1B), WDR5, WDR82, RBBP5, ASH2L/ASH2, CXXC1/CFP1, HCFC1 and DPY30.

Interacts with HCFC1.

Interacts with ASH2/ASH2L, CXXC1/CFP1, WDR5 and RBBP5.

Interacts (via the RRM domain) with WDR82.

Interacts (via the RRM domain) with hyperphosphorylated C-terminal domain (CTD) of RNA polymerase II large subunit (POLR2A) only in the presence of WDR82. Binds specifically to CTD heptad repeats phosphorylated on 'Ser-5' of each heptad.

Interacts with ZNF335.

Interacts with SUPT6H.

Interacts with NAP1L1 (By similarity).

By similarity7 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)

More...
BioGridi
115088, 52 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
O15047

Database of interacting proteins

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DIPi
DIP-33494N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
O15047

Protein interaction database and analysis system

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IntActi
O15047, 22 interactors

Molecular INTeraction database

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MINTi
O15047

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000262519

<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

11707
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
O15047

Database of comparative protein structure models

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ModBasei
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>Domaini84 – 172RRMPROSITE-ProRule annotationAdd BLAST89
Domaini1568 – 1685SETPROSITE-ProRule annotationAdd BLAST118
Domaini1691 – 1707Post-SETPROSITE-ProRule annotationAdd BLAST17

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1415 – 1450Interaction with CFP1Add BLAST36
Regioni1450 – 1537Interaction with ASH2L, RBBP5 and WDR51 PublicationAdd BLAST88

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>Motifi1299 – 1303HCFC1-binding motif (HBM)5

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 biasi244 – 362Ser-richSequence analysisAdd BLAST119
Compositional biasi383 – 654Pro-richSequence analysisAdd BLAST272
Compositional biasi899 – 1010Glu-richSequence analysisAdd BLAST112
Compositional biasi1011 – 1062Ser-richSequence analysisAdd BLAST52
Compositional biasi1071 – 1194Pro-richSequence analysisAdd BLAST124
Compositional biasi1334 – 1375Glu-richSequence analysisAdd BLAST42
Compositional biasi1403 – 1417Pro-richSequence analysisAdd BLAST15

<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

Belongs to the class V-like SAM-binding methyltransferase superfamily.PROSITE-ProRule annotation

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1080 Eukaryota
COG2940 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000154575

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000154291

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O15047

KEGG Orthology (KO)

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KOi
K11422

Identification of Orthologs from Complete Genome Data

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OMAi
RIWTRLE

Database of Orthologous Groups

More...
OrthoDBi
1234689at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O15047

TreeFam database of animal gene trees

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TreeFami
TF106436

Family and domain databases

Conserved Domains Database

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CDDi
cd12548 RRM_Set1A, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.30.70.330, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR024657 COMPASS_Set1_N-SET
IPR012677 Nucleotide-bd_a/b_plait_sf
IPR003616 Post-SET_dom
IPR035979 RBD_domain_sf
IPR000504 RRM_dom
IPR034467 Set1A_RRM
IPR001214 SET_dom
IPR037841 SETD1A

The PANTHER Classification System

More...
PANTHERi
PTHR45814:SF3 PTHR45814:SF3, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF11764 N-SET, 1 hit
PF00076 RRM_1, 1 hit
PF00856 SET, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM01291 N-SET, 1 hit
SM00508 PostSET, 1 hit
SM00360 RRM, 1 hit
SM00317 SET, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF54928 SSF54928, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50868 POST_SET, 1 hit
PS50102 RRM, 1 hit
PS50280 SET, 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>Sequence (1+)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 has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

O15047-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MDQEGGGDGQ KAPSFQWRNY KLIVDPALDP ALRRPSQKVY RYDGVHFSVN
60 70 80 90 100
DSKYIPVEDL QDPRCHVRSK NRDFSLPVPK FKLDEFYIGQ IPLKEVTFAR
110 120 130 140 150
LNDNVRETFL KDMCRKYGEV EEVEILLHPR TRKHLGLARV LFTSTRGAKE
160 170 180 190 200
TVKNLHLTSV MGNIIHAQLD IKGQQRMKYY ELIVNGSYTP QTVPTGGKAL
210 220 230 240 250
SEKFQGSGAA TETAESRRRS SSDTAAYPAG TTAVGTPGNG TPCSQDTSFS
260 270 280 290 300
SSRQDTPSSF GQFTPQSSQG TPYTSRGSTP YSQDSAYSSS TTSTSFKPRR
310 320 330 340 350
SENSYQDAFS RRHFSASSAS TTASTAIAAT TAATASSSAS SSSLSSSSSS
360 370 380 390 400
SSSSSSSQFR SSDANYPAYY ESWNRYQRHT SYPPRRATRE EPPGAPFAEN
410 420 430 440 450
TAERFPPSYT SYLPPEPSRP TDQDYRPPAS EAPPPEPPEP GGGGGGGGPS
460 470 480 490 500
PEREEVRTSP RPASPARSGS PAPETTNESV PFAQHSSLDS RIEMLLKEQR
510 520 530 540 550
SKFSFLASDT EEEEENSSMV LGARDTGSEV PSGSGHGPCT PPPAPANFED
560 570 580 590 600
VAPTGSGEPG ATRESPKANG QNQASPCSSG DDMEISDDDR GGSPPPAPTP
610 620 630 640 650
PQQPPPPPPP PPPPPPYLAS LPLGYPPHQP AYLLPPRPDG PPPPEYPPPP
660 670 680 690 700
PPPPHIYDFV NSLELMDRLG AQWGGMPMSF QMQTQMLTRL HQLRQGKGLI
710 720 730 740 750
AASAGPPGGA FGEAFLPFPP PQEAAYGLPY ALYAQGQEGR GAYSREAYHL
760 770 780 790 800
PMPMAAEPLP SSSVSGEEAR LPPREEAELA EGKTLPTAGT VGRVLAMLVQ
810 820 830 840 850
EMKSIMQRDL NRKMVENVAF GAFDQWWESK EEKAKPFQNA AKQQAKEEDK
860 870 880 890 900
EKTKLKEPGL LSLVDWAKSG GTTGIEAFAF GSGLRGALRL PSFKVKRKEP
910 920 930 940 950
SEISEASEEK RPRPSTPAEE DEDDPEQEKE AGEPGRPGTK PPKRDEERGK
960 970 980 990 1000
TQGKHRKSFA LDSEGEEASQ ESSSEKDEED DEEDEEDEDR EEAVDTTKKE
1010 1020 1030 1040 1050
TEVSDGEDEE SDSSSKCSLY ADSDGENDST SDSESSSSSS SSSSSSSSSS
1060 1070 1080 1090 1100
SSSSSSSSES SSEDEEEEER PAALPSASPP PREVPVPTPA PVEVPVPERV
1110 1120 1130 1140 1150
AGSPVTPLPE QEASPARPAG PTEESPPSAP LRPPEPPAGP PAPAPRPDER
1160 1170 1180 1190 1200
PSSPIPLLPP PKKRRKTVSF SAIEVVPAPE PPPATPPQAK FPGPASRKAP
1210 1220 1230 1240 1250
RGVERTIRNL PLDHASLVKS WPEEVSRGGR SRAGGRGRLT EEEEAEPGTE
1260 1270 1280 1290 1300
VDLAVLADLA LTPARRGLPA LPAVEDSEAT ETSDEAERPR PLLSHILLEH
1310 1320 1330 1340 1350
NYALAVKPTP PAPALRPPEP VPAPAALFSS PADEVLEAPE VVVAEAEEPK
1360 1370 1380 1390 1400
PQQLQQQREE GEEEGEEEGE EEEEESSDSS SSSDGEGALR RRSLRSHARR
1410 1420 1430 1440 1450
RRPPPPPPPP PPRAYEPRSE FEQMTILYDI WNSGLDSEDM SYLRLTYERL
1460 1470 1480 1490 1500
LQQTSGADWL NDTHWVHHTI TNLTTPKRKR RPQDGPREHQ TGSARSEGYY
1510 1520 1530 1540 1550
PISKKEKDKY LDVCPVSARQ LEGVDTQGTN RVLSERRSEQ RRLLSAIGTS
1560 1570 1580 1590 1600
AIMDSDLLKL NQLKFRKKKL RFGRSRIHEW GLFAMEPIAA DEMVIEYVGQ
1610 1620 1630 1640 1650
NIRQMVADMR EKRYVQEGIG SSYLFRVDHD TIIDATKCGN LARFINHCCT
1660 1670 1680 1690 1700
PNCYAKVITI ESQKKIVIYS KQPIGVDEEI TYDYKFPLED NKIPCLCGTE

SCRGSLN
Length:1,707
Mass (Da):186,034
Last modified:June 21, 2005 - v3
<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:i0084217B0D425050
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9J2Z9C9J2Z9_HUMAN
Histone-lysine N-methyltransferase ...
SETD1A
63Annotation 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 AAH35795 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence BAA20797 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.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 conflicti242 – 248PCSQDTS → ACPVTHV in AAH35795 (PubMed:15489334).Curated7
Sequence conflicti1240 – 1242TEE → FLG in AAH27450 (PubMed:15489334).Curated3

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_059318639D → N. Corresponds to variant dbSNP:rs897985Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB002337 mRNA Translation: BAA20797.2 Different initiation.
AC135048 Genomic DNA No translation available.
BC027450 mRNA Translation: AAH27450.1
BC035795 mRNA Translation: AAH35795.1 Sequence problems.

The Consensus CDS (CCDS) project

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CCDSi
CCDS32435.1

NCBI Reference Sequences

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RefSeqi
NP_055527.1, NM_014712.2
XP_005255780.1, XM_005255723.1
XP_006721169.1, XM_006721106.3
XP_016879398.1, XM_017023909.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000262519; ENSP00000262519; ENSG00000099381

Database of genes from NCBI RefSeq genomes

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GeneIDi
9739

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:9739

UCSC genome browser

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UCSCi
uc002ead.2 human

Keywords - Coding sequence diversityi

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
AB002337 mRNA Translation: BAA20797.2 Different initiation.
AC135048 Genomic DNA No translation available.
BC027450 mRNA Translation: AAH27450.1
BC035795 mRNA Translation: AAH35795.1 Sequence problems.
CCDSiCCDS32435.1
RefSeqiNP_055527.1, NM_014712.2
XP_005255780.1, XM_005255723.1
XP_006721169.1, XM_006721106.3
XP_016879398.1, XM_017023909.1

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3S8SX-ray1.30A89-197[»]
3UVNX-ray1.79B/D1492-1502[»]
4EWRX-ray1.50C1488-1501[»]
SMRiO15047
ModBaseiSearch...

Protein-protein interaction databases

BioGridi115088, 52 interactors
CORUMiO15047
DIPiDIP-33494N
ELMiO15047
IntActiO15047, 22 interactors
MINTiO15047
STRINGi9606.ENSP00000262519

Chemistry databases

ChEMBLiCHEMBL4105954

PTM databases

iPTMnetiO15047
PhosphoSitePlusiO15047

Polymorphism and mutation databases

BioMutaiSETD1A

Proteomic databases

EPDiO15047
jPOSTiO15047
MaxQBiO15047
PaxDbiO15047
PeptideAtlasiO15047
PRIDEiO15047
ProteomicsDBi48400

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
9739
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262519; ENSP00000262519; ENSG00000099381
GeneIDi9739
KEGGihsa:9739
UCSCiuc002ead.2 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
9739
DisGeNETi9739

GeneCards: human genes, protein and diseases

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GeneCardsi
SETD1A
HGNCiHGNC:29010 SETD1A
HPAiHPA020646
HPA058376
MalaCardsiSETD1A
MIMi611052 gene
neXtProtiNX_O15047
OpenTargetsiENSG00000099381
PharmGKBiPA128394556

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1080 Eukaryota
COG2940 LUCA
GeneTreeiENSGT00940000154575
HOGENOMiHOG000154291
InParanoidiO15047
KOiK11422
OMAiRIWTRLE
OrthoDBi1234689at2759
PhylomeDBiO15047
TreeFamiTF106436

Enzyme and pathway databases

BRENDAi2.1.1.43 2681
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

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ChiTaRSi
SETD1A human

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

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GenomeRNAii
9739

Protein Ontology

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PROi
PR:O15047

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000099381 Expressed in 199 organ(s), highest expression level in paraflocculus
ExpressionAtlasiO15047 baseline and differential
GenevisibleiO15047 HS

Family and domain databases

CDDicd12548 RRM_Set1A, 1 hit
Gene3Di3.30.70.330, 1 hit
InterProiView protein in InterPro
IPR024657 COMPASS_Set1_N-SET
IPR012677 Nucleotide-bd_a/b_plait_sf
IPR003616 Post-SET_dom
IPR035979 RBD_domain_sf
IPR000504 RRM_dom
IPR034467 Set1A_RRM
IPR001214 SET_dom
IPR037841 SETD1A
PANTHERiPTHR45814:SF3 PTHR45814:SF3, 1 hit
PfamiView protein in Pfam
PF11764 N-SET, 1 hit
PF00076 RRM_1, 1 hit
PF00856 SET, 1 hit
SMARTiView protein in SMART
SM01291 N-SET, 1 hit
SM00508 PostSET, 1 hit
SM00360 RRM, 1 hit
SM00317 SET, 1 hit
SUPFAMiSSF54928 SSF54928, 1 hit
PROSITEiView protein in PROSITE
PS50868 POST_SET, 1 hit
PS50102 RRM, 1 hit
PS50280 SET, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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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 nameiSET1A_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: O15047
Secondary accession number(s): A6NP62, Q6PIF3, Q8TAJ6
<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 21, 2005
Last sequence update: June 21, 2005
Last modified: July 3, 2019
This is version 172 of the entry and version 3 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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