KAT8
Histone acetyltransferase KAT8
Also known as: FLJ14040, hMOF, KAT8_HUMAN, MOF, MYST1, ZC2HC8
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9H7Z6
- Gene
- KAT8
- Ensembl
- ENSG00000103510
- Chromosome
- 16
- Canonical length
- 458 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
This gene encodes a member of the MYST histone acetylase protein family. The encoded protein has a characteristic MYST domain containing an acetyl-CoA-binding site, a chromodomain typical of proteins which bind histones, and a C2HC-type zinc finger. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
Canonical amino-acid sequenceUniProt
458 residues, UniProt reviewed canonical sequence.
>Q9H7Z6|KAT8
1 MAAQGAAAAV AAGTSGVAGE GEPGPGENAA AEGTAPSPGR VSPPTPARGE PEVTVEIGET
61 YLCRRPDSTW HSAEVIQSRV NDQEGREEFY VHYVGFNRRL DEWVDKNRLA LTKTVKDAVQ
121 KNSEKYLSEL AEQPERKITR NQKRKHDEIN HVQKTYAEMD PTTAALEKEH EAITKVKYVD
181 KIHIGNYEID AWYFSPFPED YGKQPKLWLC EYCLKYMKYE KSYRFHLGQC QWRQPPGKEI
241 YRKSNISVYE VDGKDHKIYC QNLCLLAKLF LDHKTLYFDV EPFVFYILTE VDRQGAHIVG
301 YFSKEKESPD GNNVACILTL PPYQRRGYGK FLIAFSYELS KLESTVGSPE KPLSDLGKLS
361 YRSYWSWVLL EILRDFRGTL SIKDLSQMTS ITQNDIISTL QSLNMVKYWK GQHVICVTPK
421 LVEEHLKSAQ YKKPPITVDS VCLKWAPPKH KQVKLSKKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against KAT8 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)
- 0.33
- Highest tissue expression
- 77 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 77 nTPM
- ovary: 60 nTPM
- skeletal muscle: 50 nTPM
- tongue: 47 nTPM
- epididymis: 44 nTPM
- heart muscle: 41 nTPM
Single-cell type
- late spermatids: 230 nCPM
- epididymal principal cells: 209 nCPM
- early spermatids: 166 nCPM
- neutrophils: 136 nCPM
- myonuclei: 83 nCPM
- ovarian stromal cells: 69 nCPM
Immune cell
- eosinophil: 30 nTPM
- neutrophil: 29 nTPM
- non-classical monocyte: 8.4 nTPM
- basophil: 7.8 nTPM
- classical monocyte: 7.4 nTPM
- myeloid DC: 6.6 nTPM
Brain region
- cerebellum: 53 nTPM
- cerebral cortex: 39 nTPM
- white matter: 37 nTPM
- medulla oblongata: 36 nTPM
- thalamus: 36 nTPM
- midbrain: 35 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about KAT8.
Disease | AllUniProt
Conditions KAT8 is implicated in, by any mechanism.
- Li-Ghorbani-Weisz-Hubshman syndrome (LIGOWS) MIM:618974
Disease | GeneticClinVar
11 pathogenic / likely-pathogenic of 172 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Li-Ghorbani-Weisz-Hubshman syndrome
- Inborn genetic diseases
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)
- 0.48
- gnomAD pLI
- 0.22
- gnomAD missense Z
- 3.15
- DepMap mean gene effect
- -1.56
- DepMap dependency class
- pan
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- dosage compensation by inactivation of X chromosome
- myeloid cell differentiation
- negative regulation of DNA-templated transcription
- negative regulation of epithelial to mesenchymal transition
- negative regulation of type I interferon production
- neurogenesis
- oogenesis
- positive regulation of DNA-templated transcription
- positive regulation of skeletal muscle satellite cell differentiation
- positive regulation of transcription initiation by RNA polymerase II
- post-embryonic hemopoiesis
- regulation of autophagy
- regulation of mitochondrial transcription
- regulation of mRNA processing
- transcription initiation-coupled chromatin remodeling
Molecular functions
- enzyme binding
- histone H4 acetyltransferase activity
- histone H4K16 acetyltransferase activity
- histone H4K5 acetyltransferase activity
- histone H4K8 acetyltransferase activity
- promoter-specific chromatin binding
- protein propionyltransferase activity
- protein-lysine-acetyltransferase activity
- RNA polymerase II-specific DNA-binding transcription factor binding
- transcription coactivator activity
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Chromo/chromo shadow domain
- Histone acetyltransferase domain, MYST-type
- Acyl-CoA N-acyltransferase
- Chromo-like domain superfamily
- RNA binding activity-knot of a chromodomain
- Winged helix-like DNA-binding domain superfamily
- MYST, zinc finger domain
- MYST family histone acetyltransferases
- MOZ/SAS family
- RNA binding activity-knot of a chromodomain
- MYST family zinc finger domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of KAT8 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 KAT8 as an antibody target. Whether an autoantibody or antibody against KAT8 could matter depends on whether native KAT8 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
KAT8 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 KAT8 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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