HDAC9
Histone deacetylase 9
Also known as: HD7, HDAC, HDAC7B, HDAC9_HUMAN, KIAA0744, MITR
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9UKV0
- Gene
- HDAC9
- Ensembl
- ENSG00000048052
- Chromosome
- 7
- Canonical length
- 1011 aa
- Protein class
- Disease related genes, Enzymes, FDA approved drug targets, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
- Quaternary structure
- Homodimer
OverviewNCBI Gene
Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene has sequence homology to members of the histone deacetylase family. This gene is orthologous to the Xenopus and mouse MITR genes. The MITR protein lacks the histone deacetylase catalytic domain. It represses MEF2 activity through recruitment of multicomponent corepressor complexes that include CtBP and HDACs. This encoded protein may play a role in hematopoiesis. Multiple alternatively spliced transcripts have been described for this gene but the full-length nature of some of them has not been determined. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
1011 residues, UniProt reviewed canonical sequence.
>Q9UKV0|HDAC9
1 MHSMISSVDV KSEVPVGLEP ISPLDLRTDL RMMMPVVDPV VREKQLQQEL LLIQQQQQIQ
61 KQLLIAEFQK QHENLTRQHQ AQLQEHIKEL LAIKQQQELL EKEQKLEQQR QEQEVERHRR
121 EQQLPPLRGK DRGRERAVAS TEVKQKLQEF LLSKSATKDT PTNGKNHSVS RHPKLWYTAA
181 HHTSLDQSSP PLSGTSPSYK YTLPGAQDAK DDFPLRKTAS EPNLKVRSRL KQKVAERRSS
241 PLLRRKDGNV VTSFKKRMFE VTESSVSSSS PGSGPSSPNN GPTGSVTENE TSVLPPTPHA
301 EQMVSQQRIL IHEDSMNLLS LYTSPSLPNI TLGLPAVPSQ LNASNSLKEK QKCETQTLRQ
361 GVPLPGQYGG SIPASSSHPH VTLEGKPPNS SHQALLQHLL LKEQMRQQKL LVAGGVPLHP
421 QSPLATKERI SPGIRGTHKL PRHRPLNRTQ SAPLPQSTLA QLVIQQQHQQ FLEKQKQYQQ
481 QIHMNKLLSK SIEQLKQPGS HLEEAEEELQ GDQAMQEDRA PSSGNSTRSD SSACVDDTLG
541 QVGAVKVKEE PVDSDEDAQI QEMESGEQAA FMQQPFLEPT HTRALSVRQA PLAAVGMDGL
601 EKHRLVSRTH SSPAASVLPH PAMDRPLQPG SATGIAYDPL MLKHQCVCGN STTHPEHAGR
661 IQSIWSRLQE TGLLNKCERI QGRKASLEEI QLVHSEHHSL LYGTNPLDGQ KLDPRILLGD
721 DSQKFFSSLP CGGLGVDSDT IWNELHSSGA ARMAVGCVIE LASKVASGEL KNGFAVVRPP
781 GHHAEESTAM GFCFFNSVAI TAKYLRDQLN ISKILIVDLD VHHGNGTQQA FYADPSILYI
841 SLHRYDEGNF FPGSGAPNEV GTGLGEGYNI NIAWTGGLDP PMGDVEYLEA FRTIVKPVAK
901 EFDPDMVLVS AGFDALEGHT PPLGGYKVTA KCFGHLTKQL MTLADGRVVL ALEGGHDLTA
961 ICDASEACVN ALLGNELEPL AEDILHQSPN MNAVISLQKI IEIQSMSLKF SLocalizationUniProt · AlphaFold · HPA
Whether an antibody against HDAC9 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)
- 0.49
- Highest tissue expression
- 24 nTPM
Expression across tissuesHPA
Tissue
- retina: 24 nTPM
- lymph node: 17 nTPM
- tonsil: 17 nTPM
- spleen: 16 nTPM
- skeletal muscle: 16 nTPM
- heart muscle: 13 nTPM
Single-cell type
- choroid plexus epithelial cells: 4,757 nCPM
- adrenal medulla cells: 2,649 nCPM
- cdc: 1,768 nCPM
- thyrotrophs: 1,737 nCPM
- microglia: 1,354 nCPM
- corticotrophs: 1,278 nCPM
Immune cell
- myeloid DC: 74 nTPM
- memory B-cell: 53 nTPM
- naive B-cell: 44 nTPM
- classical monocyte: 24 nTPM
- intermediate monocyte: 16 nTPM
- plasmacytoid DC: 16 nTPM
Brain region
- choroid plexus: 120 nTPM
- thalamus: 49 nTPM
- cerebral cortex: 39 nTPM
- white matter: 36 nTPM
- basal ganglia: 36 nTPM
- medulla oblongata: 36 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about HDAC9.
Disease | AllUniProt
Conditions HDAC9 is implicated in, by any mechanism.
- Auriculocondylar syndrome 4 (ARCND4) MIM:620457
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 152 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Auriculocondylar syndrome 4
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)
- 0.25
- gnomAD pLI
- 1
- gnomAD missense Z
- 2.06
- DepMap mean gene effect
- 0.1
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- B cell activation
- B cell differentiation
- cellular response to insulin stimulus
- cholesterol homeostasis
- epigenetic regulation of gene expression
- heart development
- inflammatory response
- negative regulation of cytokine production
- negative regulation of DNA-templated transcription
- negative regulation of gene expression, epigenetic
- negative regulation of transcription by RNA polymerase II
- positive regulation of cell migration involved in sprouting angiogenesis
- regulation of skeletal muscle fiber development
- regulation of striated muscle cell differentiation
Molecular functions
- DNA-binding transcription factor binding
- histone deacetylase activity
- histone deacetylase binding
- histone H3K9 deacetylase activity, hydrolytic mechanism
- metal ion binding
- protein kinase C binding
- protein lysine deacetylase activity
- RNA polymerase II-specific DNA-binding transcription factor binding
- transcription corepressor activity
- histone H3K14 deacetylase activity, hydrolytic mechanism
- histone H4K16 deacetylase activity, hydrolytic mechanism
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of HDAC9 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 HDAC9 as an antibody target. Whether an autoantibody or antibody against HDAC9 could matter depends on whether native HDAC9 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
HDAC9 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 HDAC9 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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