Gene: SETD1A

Alternate names for this Gene: EPEDD|KMT2F|NEDSID|Set1|Set1A

Gene Summary: The protein encoded by this gene is a component of a histone methyltransferase (HMT) complex that produces mono-, di-, and trimethylated histone H3 at Lys4. Trimethylation of histone H3 at lysine 4 (H3K4me3) is a chromatin modification known to generally mark the transcription start sites of active genes. The protein contains SET domains, a RNA recognition motif domain and is a member of the class V-like SAM-binding methyltransferase superfamily.

Gene is located in Chromosome: 16

Location in Chromosome : 16p11.2

Description of this Gene: SET domain containing 1A, histone lysine methyltransferase

Type of Gene: protein-coding

rs1870293 in SETD1A gene and Ankylosing spondylitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs1870293 in SETD1A gene and Cholangitis, Sclerosing PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs11150601 in SETD1A gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs1870293 in SETD1A gene and Crohn Disease PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs1555488653 in SETD1A gene and Dysmorphic features PMID 26974950 2016 Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.

PMID 16921172 2006 Protein interactions within the Set1 complex and their roles in the regulation of histone 3 lysine 4 methylation.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 24853937 2014 Loss-of-function variants in schizophrenia risk and SETD1A as a candidate susceptibility gene.

PMID 24550110 2014 The H3K4 methyltransferase Setd1a is first required at the epiblast stage, whereas Setd1b becomes essential after gastrulation.

PMID 19700006 2009 Schizophrenia.

rs67517081 in SETD1A gene and Finding of Mean Corpuscular Hemoglobin PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs1870293 in SETD1A gene and Psoriasis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs7204459 in SETD1A gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs770913157 in SETD1A gene and Schizophrenia PMID 26974950 2016 Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.

rs1870293 in SETD1A gene and Ulcerative Colitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.