KAT6A

K(lysine) acetyltransferase 6A (KAT6A), is an enzyme that, in humans, is encoded by the KAT6A gene.^[5][6] This gene is located on human chromosome 8, band 8p11.21. ^[7]

KAT6A
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1M36, 2LN0, 2OZU, 2RC4, 3V43, 4LJN, 4LK9, 4LKA, 4LLB
Identifiers
Aliases	KAT6A, MOZ, MYST3, RUNXBP2, ZC2HC6A, ZNF220, MRD32, MYST-3, lysine acetyltransferase 6A, ARTHS
External IDs	OMIM: 601408; MGI: 2442415; HomoloGene: 4924; GeneCards: KAT6A; OMA:KAT6A - orthologs
Gene location (Human) Chr. Chromosome 8 (human)[1] Band 8p11.21 Start 41,929,479 bp[1] End 42,051,994 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8|8 A2 Start 23,349,551 bp[2] End 23,433,275 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in nipple internal globus pallidus lactiferous duct skin of arm skin of thigh mucosa of ileum skin of hip epithelium of colon cardia vulva Top expressed in Gonadal ridge retinal pigment epithelium molar tibiofemoral joint lacrimal gland left lung lobe cerebellar vermis vas deferens ciliary body blood More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity DNA binding transcription coactivator activity transcription factor binding metal ion binding histone acetyltransferase activity protein binding acyltransferase activity acetyltransferase activity zinc ion binding H4 histone acetyltransferase activity histone binding Cellular component PML body nucleosome MOZ/MORF histone acetyltransferase complex nucleus nucleoplasm nucleolus cytosol nuclear speck histone acetyltransferase complex Biological process animal organ development nucleosome assembly myeloid cell differentiation regulation of transcription, DNA-templated transcription, DNA-templated positive regulation of transcription, DNA-templated cellular senescence histone H3 acetylation negative regulation of transcription, DNA-templated protein acetylation regulation of signal transduction by p53 class mediator histone acetylation chromatin organization histone H4 acetylation positive regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 7994 244349 Ensembl ENSG00000083168 ENSMUSG00000031540 UniProt Q92794 Q8BZ21 RefSeq (mRNA) NM_001099412 NM_001099413 NM_001305878 NM_006766 NM_001081149 NM_001364449 RefSeq (protein) NP_001292807 NP_006757 NP_001074618 NP_001351378 Location (UCSC) Chr 8: 41.93 – 42.05 Mb Chr 8: 23.35 – 23.43 Mb PubMed search [3] [4]
Wikidata
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Protein function

The KAT6A protein^[8] contains two nuclear localization domains, a C₂HC₃ zinc finger and an acetyltransferase domain. This structure suggests that KAT6A functions as a chromatin-bound acetyltransferase.^[6] KAT6A is important for the proper development of hematopoietic stem cells.^[9]

Arboleda-Tham syndrome

Main article: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

Arboleda-Tham syndrome (ARTHS),^[10] also referred to as KAT6A Syndrome (Arboleda-Tham Syndrome), is a rare autosomal dominant developmental disorder, caused by various missense, nonsense, and frameshift mutations in the KAT6A gene. The main characteristics of this syndrome are developmental delay, impaired intellectual development, speech delay, microcephaly, cardiac anomalies, and gastrointestinal complications. ^[11]