SETD1A
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| SET domain containing 1A | MIM:611052 | Ensembl:ENSG00000099381 | HGNC:HGNC:29010 | PA128394556 | 16p11.2 |
GO terms in SETD1A
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0003723 | RNA binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0008013 | beta-catenin binding |
| MF | IPI | GO:0008134 | transcription factor binding |
| MF | TAS | GO:0018024 | histone-lysine N-methyltransferase activity |
| MF | IDA | GO:0042800 | histone methyltransferase activity (H3-K4 specific) |
| BP | IEA | GO:0006351 | transcription, DNA-templated |
| BP | IEA | GO:0006355 | regulation of transcription, DNA-templated |
| BP | TAS | GO:0045652 | regulation of megakaryocyte differentiation |
| BP | IEA | GO:0051568 | histone H3-K4 methylation |
| BP | IDA | GO:1902036 | regulation of hematopoietic stem cell differentiation |
| BP | IDA | GO:1902275 | regulation of chromatin organization |
| CC | IDA | GO:0000790 | nuclear chromatin |
| CC | IDA | GO:0005634 | nucleus |
| CC | IMP | GO:0005634 | nucleus |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0016607 | nuclear speck |
| CC | IDA | GO:0035097 | histone methyltransferase complex |
| CC | IDA | GO:0048188 | Set1C/COMPASS complex |
| CC | TAS | GO:0048188 | Set1C/COMPASS complex |
Gene expression in normal tissue: SETD1A
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SETD1A
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa00310 | Lysine degradation - Homo sapiens (human) |
| wikipathways | WP2369 | Histone Modifications |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-3214841 | PKMTs methylate histone lysines |
| reactome | R-HSA-3247509 | Chromatin modifying enzymes |
| reactome | R-HSA-4839726 | Chromatin organization |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-8878171 | Transcriptional regulation by RUNX1 |
| reactome | R-HSA-8936459 | RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SETD1A
CLASSFICATION
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