KAT6A

Protein identityUniProt · HPA

UniProt accession

Q92794

Gene

KAT6A

Ensembl

ENSG00000083168

Chromosome

8

Canonical length

2004 aa

Protein class

Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoli,Nuclear speckles,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

2004 residues, UniProt reviewed canonical sequence.

>Q92794|KAT6A
     1  MVKLANPLYT EWILEAIKKV KKQKQRPSEE RICNAVSSSH GLDRKTVLEQ LELSVKDGTI
    61  LKVSNKGLNS YKDPDNPGRI ALPKPRNHGK LDNKQNVDWN KLIKRAVEGL AESGGSTLKS
   121  IERFLKGQKD VSALFGGSAA SGFHQQLRLA IKRAIGHGRL LKDGPLYRLN TKATNVDGKE
   181  SCESLSCLPP VSLLPHEKDK PVAEPIPICS FCLGTKEQNR EKKPEELISC ADCGNSGHPS
   241  CLKFSPELTV RVKALRWQCI ECKTCSSCRD QGKNADNMLF CDSCDRGFHM ECCDPPLTRM
   301  PKGMWICQIC RPRKKGRKLL QKKAAQIKRR YTNPIGRPKN RLKKQNTVSK GPFSKVRTGP
   361  GRGRKRKITL SSQSASSSSE EGYLERIDGL DFCRDSNVSL KFNKKTKGLI DGLTKFFTPS
   421  PDGRKARGEV VDYSEQYRIR KRGNRKSSTS DWPTDNQDGW DGKQENEERL FGSQEIMTEK
   481  DMELFRDIQE QALQKVGVTG PPDPQVRCPS VIEFGKYEIH TWYSSPYPQE YSRLPKLYLC
   541  EFCLKYMKSR TILQQHMKKC GWFHPPANEI YRKNNISVFE VDGNVSTIYC QNLCLLAKLF
   601  LDHKTLYYDV EPFLFYVLTQ NDVKGCHLVG YFSKEKHCQQ KYNVSCIMIL PQYQRKGYGR
   661  FLIDFSYLLS KREGQAGSPE KPLSDLGRLS YMAYWKSVIL ECLYHQNDKQ ISIKKLSKLT
   721  GICPQDITST LHHLRMLDFR SDQFVIIRRE KLIQDHMAKL QLNLRPVDVD PECLRWTPVI
   781  VSNSVVSEEE EEEAEEGENE EPQCQERELE ISVGKSVSHE NKEQDSYSVE SEKKPEVMAP
   841  VSSTRLSKQV LPHDSLPANS QPSRRGRWGR KNRKTQERFG DKDSKLLLEE TSSAPQEQYG
   901  ECGEKSEATQ EQYTESEEQL VASEEQPSQD GKPDLPKRRL SEGVEPWRGQ LKKSPEALKC
   961  RLTEGSERLP RRYSEGDRAV LRGFSESSEE EEEPESPRSS SPPILTKPTL KRKKPFLHRR
  1021  RRVRKRKHHN SSVVTETISE TTEVLDEPFE DSDSERPMPR LEPTFEIDEE EEEEDENELF
  1081  PREYFRRLSS QDVLRCQSSS KRKSKDEEED EESDDADDTP ILKPVSLLRK RDVKNSPLEP
  1141  DTSTPLKKKK GWPKGKSRKP IHWKKRPGRK PGFKLSREIM PVSTQACVIE PIVSIPKAGR
  1201  KPKIQESEET VEPKEDMPLP EERKEEEEMQ AEAEEAEEGE EEDAASSEVP AASPADSSNS
  1261  PETETKEPEV EEEEEKPRVS EEQRQSEEEQ QELEEPEPEE EEDAAAETAQ NDDHDADDED
  1321  DGHLESTKKK ELEEQPTRED VKEEPGVQES FLDANMQKSR EKIKDKEETE LDSEEEQPSH
  1381  DTSVVSEQMA GSEDDHEEDS HTKEELIELK EEEEIPHSEL DLETVQAVQS LTQEESSEHE
  1441  GAYQDCEETL AACQTLQSYT QADEDPQMSM VEDCHASEHN SPISSVQSHP SQSVRSVSSP
  1501  NVPALESGYT QISPEQGSLS APSMQNMETS PMMDVPSVSD HSQQVVDSGF SDLGSIESTT
  1561  ENYENPSSYD STMGGSICGN SSSQSSCSYG GLSSSSSLTQ SSCVVTQQMA SMGSSCSMMQ
  1621  QSSVQPAANC SIKSPQSCVV ERPPSNQQQQ PPPPPPQQPQ PPPPQPQPAP QPPPPQQQPQ
  1681  QQPQPQPQQP PPPPPPQQQP PLSQCSMNNS FTPAPMIMEI PESGSTGNIS IYERIPGDFG
  1741  AGSYSQPSAT FSLAKLQQLT NTIMDPHAMP YSHSPAVTSY ATSVSLSNTG LAQLAPSHPL
  1801  AGTPQAQATM TPPPNLASTT MNLTSPLLQC NMSATNIGIP HTQRLQGQMP VKGHISIRSK
  1861  SAPLPSAAAH QQQLYGRSPS AVAMQAGPRA LAVQRGMNMG VNLMPTPAYN VNSMNMNTLN
  1921  AMNSYRMTQP MMNSSYHSNP AYMNQTAQYP MQMQMGMMGS QAYTQQPMQP NPHGNMMYTG
  1981  PSHHSYMNAA GVPKQSLNGP YMRR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KAT6A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.55

Highest tissue expression

36 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KAT6A.

Disease | AllUniProt

Conditions KAT6A is implicated in, by any mechanism.

• Arboleda-Tham syndrome (ARTHS) MIM:616268

Disease | GeneticClinVar

205 pathogenic / likely-pathogenic of 2,055 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
• Inborn genetic diseases
• KAT6A-related disorder
• Intellectual disability
• Syndromic intellectual disability

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.07

gnomAD pLI

1

gnomAD missense Z

2.07

DepMap mean gene effect

-0.13

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cellular senescence
• chromosome organization
• myeloid cell differentiation
• negative regulation of DNA-templated transcription
• nucleosome assembly
• positive regulation of DNA-templated transcription
• positive regulation of gene expression
• protein acetylation
• regulation of developmental process
• regulation of DNA-templated transcription
• regulation of hemopoiesis
• regulation of signal transduction by p53 class mediator
• regulation of transcription by RNA polymerase II

Molecular functions

• acetyltransferase activity
• chromatin binding
• DNA binding
• DNA-binding transcription factor binding
• histone acetyltransferase activity
• histone H3 acetyltransferase activity
• histone H3K14 acetyltransferase activity
• histone H4K12 acetyltransferase activity
• histone H4K16 acetyltransferase activity
• histone H4K5 acetyltransferase activity
• histone H4K8 acetyltransferase activity
• transcription coactivator activity
• transcription coregulator activity
• zinc ion binding

Cellular components

• chromatin
• cytosol
• MOZ/MORF histone acetyltransferase complex
• nuclear speck
• nucleolus
• nucleoplasm
• nucleosome
• nucleus
• PML body

Protein domainsUniProt · Pfam · InterPro

• Zinc finger, PHD-type
• Histone acetyltransferase domain, MYST-type
• Linker histone H1/H5, domain H15
• Zinc finger, FYVE/PHD-type
• Zinc finger, RING/FYVE/PHD-type
• Acyl-CoA N-acyltransferase
• Zinc finger, PHD-finger
• Winged helix-like DNA-binding domain superfamily
• Winged helix DNA-binding domain superfamily
• MYST, zinc finger domain
• SAM domain-containing protein 1-like, WH domain
• MYST family histone acetyltransferases
• PHD-finger
• MOZ/SAS family
• MYST family zinc finger domain
• SAM domain-containing protein 1, WH domain

KeywordsUniProt

• Acetylation
• Activator
• Acyltransferase
• Chromatin regulator
• Chromosomal rearrangement
• Intellectual disability
• Isopeptide bond
• Metal-binding
• Nucleus
• Phosphoprotein
• Proto-oncogene
• Repeat
• Repressor
• Transcription
• Transcription regulation
• Transferase
• Ubl conjugation
• Zinc
• Zinc-finger

InteractionsUniProt · HPA

Protein binding partners of KAT6A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• PML
• RUNX1
• RUNX2
• CSNK2B
• HMGA1