KAT6B
Histone acetyltransferase KAT6B
Also known as: KAT6B_HUMAN, Morf, MOZ2, MYST4, qkf, querkopf, ZC2HC6B
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8WYB5
- Gene
- KAT6B
- Ensembl
- ENSG00000156650
- Chromosome
- 10
- Canonical length
- 2073 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
- Nucleoplasm,Nuclear bodies
OverviewNCBI Gene
The protein encoded by this gene is a histone acetyltransferase and component of the MOZ/MORF protein complex. In addition to its acetyltransferase activity, the encoded protein has transcriptional activation activity in its N-terminal end and transcriptional repression activity in its C-terminal end. This protein is necessary for RUNX2-dependent transcriptional activation and could be involved in brain development. Mutations have been found in patients with genitopatellar syndrome. A translocation of this gene and the CREBBP gene results in acute myeloid leukemias. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]
Canonical amino-acid sequenceUniProt
2073 residues, UniProt reviewed canonical sequence.
>Q8WYB5|KAT6B
1 MVKLANPLYT EWILEAIQKI KKQKQRPSEE RICHAVSTSH GLDKKTVSEQ LELSVQDGSV
61 LKVTNKGLAS YKDPDNPGRF SSVKPGTFPK SAKGSRGSCN DLRNVDWNKL LRRAIEGLEE
121 PNGSSLKNIE KYLRSQSDLT STTNNPAFQQ RLRLGAKRAV NNGRLLKDGP QYRVNYGSLD
181 GKGAPQYPSA FPSSLPPVSL LPHEKDQPRA DPIPICSFCL GTKESNREKK PEELLSCADC
241 GSSGHPSCLK FCPELTTNVK ALRWQCIECK TCSACRVQGR NADNMLFCDS CDRGFHMECC
301 DPPLSRMPKG MWICQVCRPK KKGRKLLHEK AAQIKRRYAK PIGRPKNKLK QRLLSVTSDE
361 GSMNAFTGRG SPGRGQKTKV CTTPSSGHAA SGKDSSSRLA VTDPTRPGAT TKITTTSTYI
421 SASTLKVNKK TKGLIDGLTK FFTPSPDGRR SRGEIIDFSK HYRPRKKVSQ KQSCTSHVLA
481 TGTTQKLKPP PSSLPPPTPI SGQSPSSQKS STATSSPSPQ SSSSQCSVPS LSSLTTNSQL
541 KALFDGLSHI YTTQGQSRKK GHPSYAPPKR MRRKTELSST AKSKAHFFGK RDIRSRFISH
601 SSSSSWGMAR GSIFKAIAHF KRTTFLKKHR MLGRLKYKVT PQMGTPSPGK GSLTDGRIKP
661 DQDDDTEIKI NIKQESADVN VIGNKDVVTE EDLDVFKQAQ ELSWEKIECE SGVEDCGRYP
721 SVIEFGKYEI QTWYSSPYPQ EYARLPKLYL CEFCLKYMKS KNILLRHSKK CGWFHPPANE
781 IYRRKDLSVF EVDGNMSKIY CQNLCLLAKL FLDHKTLYYD VEPFLFYVLT KNDEKGCHLV
841 GYFSKEKLCQ QKYNVSCIMI MPQHQRQGFG RFLIDFSYLL SRREGQAGSP EKPLSDLGRL
901 SYLAYWKSVI LEYLYHHHER HISIKAISRA TGMCPHDIAT TLQHLHMIDK RDGRFVIIRR
961 EKLILSHMEK LKTCSRANEL DPDSLRWTPI LISNAAVSEE EREAEKEAER LMEQASCWEK
1021 EEQEILSTRA NSRQSPAKVQ SKNKYLHSPE SRPVTGERGQ LLELSKESSE EEEEEEDEEE
1081 EEEEEEEEED EEEEEEEEEE EEEENIQSSP PRLTKPQSVA IKRKRPFVLK KKRGRKRRRI
1141 NSSVTTETIS ETTEVLNEPF DNSDEERPMP QLEPTCEIEV EEDGRKPVLR KAFQHQPGKK
1201 RQTEEEEGKD NHCFKNADPC RNNMNDDSSN LKEGSKDNPE PLKCKQVWPK GTKRGLSKWR
1261 QNKERKTGFK LNLYTPPETP MEPDEQVTVE EQKETSEGKT SPSPIRIEEE VKETGEALLP
1321 QEENRREETC APVSPNTSPG EKPEDDLIKP EEEEEEEEEE EEEEEEEEGE EEEGGGNVEK
1381 DPDGAKSQEK EEPEISTEKE DSARLDDHEE EEEEDEEPSH NEDHDADDED DSHMESAEVE
1441 KEELPRESFK EVLENQETFL DLNVQPGHSN PEVLMDCGVD LTASCNSEPK ELAGDPEAVP
1501 ESDEEPPPGE QAQKQDQKNS KEVDTEFKEG NPATMEIDSE TVQAVQSLTQ ESSEQDDTFQ
1561 DCAETQEACR SLQNYTRADQ SPQIATTLDD CQQSDHSSPV SSVHSHPGQS VRSVNSPSVP
1621 ALENSYAQIS PDQSAISVPS LQNMETSPMM DVPSVSDHSQ QVVDSGFSDL GSIESTTENY
1681 ENPSSYDSTM GGSICGNGSS QNSCSYSNLT SSSLTQSSCA VTQQMSNISG SCSMLQQTSI
1741 SSPPTCSVKS PQGCVVERPP SSSQQLAQCS MAANFTPPMQ LAEIPETSNA NIGLYERMGQ
1801 SDFGAGHYPQ PSATFSLAKL QQLTNTLIDH SLPYSHSAAV TSYANSASLS TPLSNTGLVQ
1861 LSQSPHSVPG GPQAQATMTP PPNLTPPPMN LPPPLLQRNM AASNIGISHS QRLQTQIASK
1921 GHISMRTKSA SLSPAAATHQ SQIYGRSQTV AMQGPARTLT MQRGMNMSVN LMPAPAYNVN
1981 SVNMNMNTLN AMNGYSMSQP MMNSGYHSNH GYMNQTPQYP MQMQMGMMGT QPYAQQPMQT
2041 PPHGNMMYTA PGHHGYMNTG MSKQSLNGSY MRRLocalizationUniProt · AlphaFold · HPA
Whether an antibody against KAT6B 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)
- 0.56
- Highest tissue expression
- 12 nTPM
Expression across tissuesHPA
Tissue
- ovary: 12 nTPM
- skeletal muscle: 11 nTPM
- blood vessel: 10 nTPM
- parathyroid gland: 9.9 nTPM
- urinary bladder: 9.7 nTPM
- cervix: 9.5 nTPM
Single-cell type
- distal convoluted tubule cells: 244 nCPM
- choroid plexus epithelial cells: 237 nCPM
- renal connecting tubule cells: 225 nCPM
- brain excitatory neurons: 199 nCPM
- renal collecting duct intercalated cells: 199 nCPM
- brain inhibitory neurons: 198 nCPM
Immune cell
- NK-cell: 4.5 nTPM
- naive CD4 T-cell: 2.9 nTPM
- naive B-cell: 2.8 nTPM
- MAIT T-cell: 2.6 nTPM
- naive CD8 T-cell: 2.6 nTPM
- gdT-cell: 2.3 nTPM
Brain region
- hippocampal formation: 21 nTPM
- hypothalamus: 21 nTPM
- basal ganglia: 21 nTPM
- cerebral cortex: 21 nTPM
- cerebellum: 21 nTPM
- amygdala: 20 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about KAT6B.
Disease | AllUniProt
Conditions KAT6B is implicated in, by any mechanism.
- Ohdo syndrome, SBBYS variant (SBBYSS) MIM:603736
- Genitopatellar syndrome (GTPTS) MIM:606170
Disease | GeneticClinVar
175 pathogenic / likely-pathogenic of 1,781 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Blepharophimosis - intellectual disability syndrome, SBBYS type
- Genitopatellar syndrome
- KAT6B-related disorder
- Inborn genetic diseases
- 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)
- 0.13
- gnomAD pLI
- 1
- gnomAD missense Z
- 2.89
- DepMap mean gene effect
- -0.06
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- negative regulation of DNA-templated transcription
- nucleosome assembly
- positive regulation of DNA-templated transcription
- positive regulation of transcription by RNA polymerase II
- regulation of developmental process
- regulation of DNA-templated transcription
- regulation of hemopoiesis
- regulation of transcription by RNA polymerase II
Molecular functions
- chromatin binding
- DNA binding
- histone acetyltransferase activity
- histone H3 acetyltransferase activity
- histone H3K14 acetyltransferase activity
- protein-containing complex binding
- protein-lysine-acetyltransferase activity
- transcription coactivator activity
- transcription coregulator activity
- zinc ion binding
Cellular components
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
InteractionsUniProt · HPA
Protein binding partners of KAT6B in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads KAT6B as an antibody target. Whether an autoantibody or antibody against KAT6B could matter depends on whether native KAT6B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
KAT6B is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label KAT6B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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