KAT6A
Summary: This gene encodes a member of the MOZ, YBFR2, SAS2, TIP60 family of histone acetyltransferases. The protein is composed of a nuclear localization domain, a double C2H2 zinc finger domain that binds to acetylated histone tails, a histone acetyl-transferase domain, a glutamate/aspartate-rich region, and a serine- and methionine-rich transactivation domain. It is part of a complex that acetylates lysine-9 residues in histone 3, and in addition, it acts as a co-activator for several transcription factors. Allelic variants of this gene are associated with an autosomal dominant form of cognitive disability. Chromosomal translocations of this gene are associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:601408 Ensembl IDEnsembl:ENSG00000083168 HGNC IDHGNC:HGNC:13013 PHARMGKB IDPA37592 Map Location8p11.21 | |||||
GO terms in KAT6A
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IDA | GO:0003677 | DNA binding |
| MF | TAS | GO:0003713 | transcription coactivator activity |
| MF | IBA | GO:0004402 | histone acetyltransferase activity |
| MF | IDA | GO:0004402 | histone acetyltransferase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0008134 | transcription factor binding |
Gene expression in normal tissue: KAT6A
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in KAT6A
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-3214847 | HATs acetylate histones |
| reactome | R-HSA-3247509 | Chromatin modifying enzymes |
| reactome | R-HSA-3700989 | Transcriptional Regulation by TP53 |
| reactome | R-HSA-4839726 | Chromatin organization |
| reactome | R-HSA-5633007 | Regulation of TP53 Activity |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in KAT6A
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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