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. [provided by RefSeq, Dec 2016].

SET domain containing 1AMIM:611052Ensembl:ENSG00000099381HGNC:HGNC:29010PA12839455616p11.2

GO terms in SETD1A

Term TypeEvidence TypeGO Term IDGO Des.
MFIEAGO:0003723RNA binding
MFIPIGO:0005515protein binding
MFIDAGO:0008013beta-catenin binding
MFIPIGO:0008134transcription factor binding
MFTASGO:0018024histone-lysine N-methyltransferase activity
MFIDAGO:0042800histone methyltransferase activity (H3-K4 specific)
BPIEAGO:0006351transcription, DNA-templated
BPIEAGO:0006355regulation of transcription, DNA-templated
BPTASGO:0045652regulation of megakaryocyte differentiation
BPIEAGO:0051568histone H3-K4 methylation
BPIDAGO:1902036regulation of hematopoietic stem cell differentiation
BPIDAGO:1902275regulation of chromatin organization
CCIDAGO:0000790nuclear chromatin
CCIDAGO:0016607nuclear speck
CCIDAGO:0035097histone methyltransferase complex
CCIDAGO:0048188Set1C/COMPASS complex
CCTASGO:0048188Set1C/COMPASS complex

Gene expression in normal tissue: SETD1A

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in SETD1A

DatabasePathway IDPathway Des.
kegghsa00310Lysine degradation - Homo sapiens (human)
wikipathwaysWP2369Histone Modifications
reactomeR-HSA-212436Generic Transcription Pathway
reactomeR-HSA-3214841PKMTs methylate histone lysines
reactomeR-HSA-3247509Chromatin modifying enzymes
reactomeR-HSA-4839726Chromatin organization
reactomeR-HSA-73857RNA Polymerase II Transcription
reactomeR-HSA-74160Gene expression (Transcription)
reactomeR-HSA-8878171Transcriptional regulation by RUNX1
reactomeR-HSA-8936459RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function

Gene-Drug: Aster Plot

Drug IDDrug NameModel Num.

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in SETD1A