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
379185572024SETD1A variant-associated psychosis: A systematic review of the clinical literature and description of two new cases.0
379185572024SETD1A variant-associated psychosis: A systematic review of the clinical literature and description of two new cases.0
370300682023Molecular insight into the SETD1A/B N-terminal region and its interaction with WDR82.1
371663512023Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders.3
375356032023SETD1A function in leukemia is mediated through interaction with mitotic regulators BuGZ/BUB3.1
375819382023SETD1A drives stemness by reprogramming the epigenetic landscape in hepatocellular carcinoma stem cells.1
380032232023In Vivo and In Vitro Characterization of the RNA Binding Capacity of SETD1A (KMT2F).0
370300682023Molecular insight into the SETD1A/B N-terminal region and its interaction with WDR82.1
371663512023Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders.3
375356032023SETD1A function in leukemia is mediated through interaction with mitotic regulators BuGZ/BUB3.1
375819382023SETD1A drives stemness by reprogramming the epigenetic landscape in hepatocellular carcinoma stem cells.1
380032232023In Vivo and In Vitro Characterization of the RNA Binding Capacity of SETD1A (KMT2F).0
352358852022Novel missense SETD1A variants in Japanese patients with schizophrenia: Resequencing and association analysis.0
352451112022Cell type-specific mechanism of Setd1a heterozygosity in schizophrenia pathogenesis.5
355081312022Loss-of-function variants in the schizophrenia risk gene SETD1A alter neuronal network activity in human neurons through the cAMP/PKA pathway.18

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)