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
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesKAT6A, MOZ, MYST3, RUNXBP2, ZC2HC6A, ZNF220, MRD32, MYST-3, lysine acetyltransferase 6A, ARTHS
External IDsOMIM: 601408 MGI: 2442415 HomoloGene: 4924 GeneCards: KAT6A
Orthologs
SpeciesHumanMouse
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 MbChr 8: 23.35 – 23.43 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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]

References

  1. GRCh38: Ensembl release 89: ENSG00000083168 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000031540 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: MYST3 MYST histone acetyltransferase (monocytic leukemia) 3".
  6. Borrow J, Stanton VP, Andresen JM, Becher R, Behm FG, Chaganti RS, Civin CI, Disteche C, Dubé I, Frischauf AM, Horsman D, Mitelman F, Volinia S, Watmore AE, Housman DE (September 1996). "The translocation t(8;16)(p11;p13) of acute myeloid leukaemia fuses a putative acetyltransferase to the CREB-binding protein". Nat. Genet. 14 (1): 33–41. doi:10.1038/ng0996-33. PMID 8782817. S2CID 205342752.
  7. - KAT6A NCBI
  8. omim.org/entry/601408
  9. Yang XJ, Ullah M (August 2007). "MOZ and MORF, two large MYSTic HATs in normal and cancer stem cells". Oncogene. 26 (37): 5408–19. doi:10.1038/sj.onc.1210609. PMID 17694082.
  10. "OMIM Entry - # 616268 - ARBOLEDA-THAM SYNDROME; ARTHS".
  11. Kennedy, J., Goudie, D., Blair, E. et al. KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants. Genet Med 21, 850–860 (2019). https://doi.org/10.1038/s41436-018-0259-2

Further reading


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.