SETD1A SET domain containing 1A [Homo sapiens] - Gene

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Summary

Official Symbol: SETD1Aprovided by HGNC
Official Full Name: SET domain containing 1Aprovided by HGNC
Primary source: HGNC:29010
See related: Ensembl:ENSG00000099381; HPRD:13795; MIM:611052; Vega:OTTHUMG00000150474
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Set1; KMT2F; Set1A; KIAA0339
Summary: SET1A is a component of a histone methyltransferase (HMT) complex that produces mono-, di-, and trimethylated histone H3 at Lys4. The complex is the analog of the S. cerevisiae Set1/COMPASS complex (Lee and Skalnik, 2005 [PubMed 16253997]). Also see SET1B (MIM 611055).[supplied by OMIM, Mar 2008]

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Genomic context

Location :: 16p11.2

Sequence :: Chromosome: 16; NC_000016.9 (30968615..30995981)

See SETD1A in Epigenomics, MapViewer

Chromosome 16 - NC_000016.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

A synergistic role of hSET1 and NURF in regulating the USF-bound barrier insulator to prevent erythroid genes from encroachment of heterochromatin.
Title: Chromatin boundaries require functional collaboration between the hSET1 and NURF complexes.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer.
Data show that Wdr82, which associates with chromatin in a histone H2B ubiquitination-dependent manner, is a specific component of Set1 complexes but not that of MLL1-4 complexes.
Title: Molecular regulation of H3K4 trimethylation by Wdr82, a component of human Set1/COMPASS.
BORIS acts as a platform upon which BAT3 and SET1A assemble and exert effects upon chromatin structure and gene expression.
Title: BAT3 and SET1A form a complex with CTCFL/BORIS to modulate H3K4 histone dimethylation and gene expression.
CGBP interacts with MLL1, MLL2 as well as Set1 H3-Lysine 4 (H3K4) specific methyl-transferases and plays critical roles in regulations of MLL target genes.
Title: Human CpG binding protein interacts with MLL1, MLL2 and hSet1 and regulates Hox gene expression.
suggest a model for how the mammalian RNA polymerase II machinery is linked with histone H3-Lys4 histone methyltransferase complexes at transcriptionally active genes
Title: Wdr82 is a C-terminal domain-binding protein that recruits the Setd1A Histone H3-Lys4 methyltransferase complex to transcription start sites of transcribed human genes.
HCF-1 was required for recruitment of the histone methyltransferases Set1 and MLL1, leading to histone H3K4 trimethylation and transcriptional activation.
Title: The coactivator host cell factor-1 mediates Set1 and MLL1 H3K4 trimethylation at herpesvirus immediate early promoters for initiation of infection.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
BioGRID:115088	BioGRID:114528	ASH2L	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:115088	BioGRID:107777	CREBBP	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:115088	BioGRID:119045	CXXC1	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Co-localization
BioGRID:115088	BioGRID:109304	HCFC1	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:115088	BioGRID:111426	POLR2A	BioGRID	PubMed	Affinity Capture-Western
BioGRID:115088	BioGRID:111864	RBBP5	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex
BioGRID:115088	BioGRID:112497	SUMO2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:115088	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:115088	BioGRID:120536	UQCC	BioGRID	PubMed	Affinity Capture-Western
BioGRID:115088	BioGRID:113237	USF1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:115088	BioGRID:116272	WDR5	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:115088	BioGRID:123245	WDR82	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex
BioGRID:115088	BioGRID:608929	WDR82P1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:115088	BioGRID:1205541	tat	BioGRID	PubMed	Reconstituted Complex

Function	Evidence Code	Pubs
RNA binding	IEA Inferred from Electronic Annotation more info
histone methyltransferase activity (H3-K4 specific)	IDA Inferred from Direct Assay more info
methyltransferase activity	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
chromatin modification	IEA Inferred from Electronic Annotation more info
histone H3-K4 methylation	IDA Inferred from Direct Assay more info
regulation of transcription, DNA-dependent	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
Set1C/COMPASS complex	IDA Inferred from Direct Assay more info	PubMed
chromosome	IEA Inferred from Electronic Annotation more info
histone methyltransferase complex	IDA Inferred from Direct Assay more info	PubMed
nuclear speck	IEA Inferred from Electronic Annotation more info
NOT nucleolus	IDA Inferred from Direct Assay more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: histone-lysine N-methyltransferase SETD1A

Names: histone-lysine N-methyltransferase SETD1A; hSET1A; lysine N-methyltransferase 2F; SET domain-containing protein 1A; set1/Ash2 histone methyltransferase complex subunit SET1

NP_055527.1

EC 2.1.1.43

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_014712.1 → NP_055527.1 histone-lysine N-methyltransferase SETD1A

Status: PROVISIONAL

Source sequence(s)

AB002337

Consensus CDS

CCDS32435.1

UniProtKB/Swiss-Prot

O15047

Related

ENSP00000262519, OTTHUMP00000197439, ENST00000262519, OTTHUMT00000318244

Conserved Domains (4) summary

cd00590
Location:101 – 169
Blast Score: 120

RRM; RRM (RNA recognition motif), also known as RBD (RNA binding domain) or RNP (ribonucleoprotein domain), is a highly abundant domain in eukaryotes found in proteins involved in post-transcriptional gene expression processes including mRNA and rRNA ...

smart00508
Location:1691 – 1707
Blast Score: 93

PostSET; Cysteine-rich motif following a subset of SET domains

pfam11764
Location:1420 – 1528
Blast Score: 318

N-SET; COMPASS (Complex proteins associated with Set1p) component N

cl02566
Location:1574 – 1691
Blast Score: 332

SET; SET domain