KAT6A

KAT6A
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1M36, 2LN0, 2OZU, 2RC4, 3V43, 4LJN, 4LK9, 4LKA, 4LLB
Dynodwyr
Cyfenwau	KAT6A, MOZ, MYST3, RUNXBP2, ZC2HC6A, ZNF220, MRD32, MYST-3, lysine acetyltransferase 6A, ARTHS
Dynodwyr allanol	OMIM: 601408 HomoloGene: 4924 GeneCards: KAT6A
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • transferase activity • DNA binding • GO:0001105 transcription coactivator activity • transcription factor binding • metal ion binding • histone acetyltransferase activity • GO:0001948, GO:0016582 protein binding • acyltransferase activity • acetyltransferase activity • zinc ion binding • H4 histone acetyltransferase activity • GO:0031493 histone binding Cydrannau o'r gell • PML body • nucleosome • MOZ/MORF histone acetyltransferase complex • cnewyllyn cell • nucleoplasm • nucleolus • cytosol • nuclear speck • histone acetyltransferase complex Prosesau biolegol • animal organ development • nucleosome assembly • myeloid cell differentiation • GO:0009373 regulation of transcription, DNA-templated • transcription, DNA-templated • GO:0060469, GO:0009371 positive regulation of transcription, DNA-templated • cellular senescence • histone H3 acetylation • GO:0045996 negative regulation of transcription, DNA-templated • protein acetylation • regulation of signal transduction by p53 class mediator • histone acetylation • GO:0031497, GO:0006336, GO:0034724, GO:0001301, GO:0007580, GO:0034652, GO:0010847 chromatin organization • histone H4 acetylation • GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	7994	n/a
Ensembl	ENSG00000083168	n/a
UniProt	Q92794	n/a
RefSeq (mRNA)	NM_001099412 NM_001099413 NM_001305878 NM_006766	n/a
RefSeq (protein)	NP_001292807 NP_006757	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn KAT6A yw KAT6A a elwir hefyd yn Lysine acetyltransferase 6A (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn ôl o gromosom dynol 8, band 8p11.21.

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn KAT6A.

• MOZ
• MRD32
• MYST3
• MYST-3
• ZNF220
• RUNXBP2
• ZC2HC6A

Llyfryddiaeth

• "The MYSTerious MOZ, a histone acetyltransferase with a key role in haematopoiesis. ". Immunology. 2013. PMID 23347099.
• "Acute myeloid leukemia with translocation (8;16)(p11;p13) and MYST3-CREBBP rearrangement harbors a distinctive microRNA signature targeting RET proto-oncogene. ". Leukemia. 2013. PMID 23022987.
• "Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder. ". Am J Med Genet A. 2016. PMID 27133397.
• "Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. ". Am J Hum Genet. 2015. PMID 25728777.
• "De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.". Am J Hum Genet. 2015. PMID 25728775.