SETD1A (SET domain containing 1A, histone lysine methyltransferase)

2014-04-01  

Identity

HGNC
LOCATION
16p11.2
LOCUSID
ALIAS
EPEDD,KMT2F,NEDSID,Set1,Set1A
FUSION GENES

Other Information

Locus ID:

NCBI: 9739
MIM: 611052
HGNC: 29010
Ensembl: ENSG00000099381

Variants:

dbSNP: 9739
ClinVar: 9739
TCGA: ENSG00000099381
COSMIC: SETD1A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000099381ENST00000262519O15047
ENSG00000099381ENST00000452917C9J2Z9

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Lysine degradationKEGGko00310
Lysine degradationKEGGhsa00310
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
PKMTs methylate histone lysinesREACTOMER-HSA-3214841

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
188385382008Molecular regulation of H3K4 trimethylation by Wdr82, a component of human Set1/COMPASS.135
269749502016Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.101
289694422018Psychiatric Genomics: An Update and an Agenda.88
179983322008Wdr82 is a C-terminal domain-binding protein that recruits the Setd1A Histone H3-Lys4 methyltransferase complex to transcription start sites of transcribed human genes.76
175789102007The coactivator host cell factor-1 mediates Set1 and MLL1 H3K4 trimethylation at herpesvirus immediate early promoters for initiation of infection.72
248539372014Loss-of-function variants in schizophrenia risk and SETD1A as a candidate susceptibility gene.54
187656392008BAT3 and SET1A form a complex with CTCFL/BORIS to modulate H3K4 histone dimethylation and gene expression.42
269384412016De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia.41
250334632014LANA binds to multiple active viral and cellular promoters and associates with the H3K4methyltransferase hSET1 complex.32
255617382015Biochemical reconstitution and phylogenetic comparison of human SET1 family core complexes involved in histone methylation.27

Citation

Dessen P

SETD1A (SET domain containing 1A, histone lysine methyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2014-04-01

Online version: http://atlasgeneticsoncology.org/gene/53878/setd1a-(set-domain-containing-1a-histone-lysine-methyltransferase)