• Gene id: 9734

Gene Summary

• Gene Symbol: HDAC9   Gene   UCSC   Ensembl
• Aliases: HD7, HD7b, HD9, HDAC, HDAC7, HDAC7B, HDAC9B, HDAC9FL, HDRP, MITR
• Gene name: histone deacetylase 9
• Alternate names: histone deacetylase 9, MEF-2 interacting transcription repressor (MITR) protein, histone deacetylase 4/5-related protein, histone deacetylase 7B,
• Gene location: 7p21.1 (141002078: 140657899)     Exons: 44     NC_000008.11
• Gene summary(Entrez): 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 h
• OMIM: 606543

Protein Summary

• Protein general information: Q9UKV0  
  • Name: Histone deacetylase 9 (HD9) (EC 3.5.1.98) (Histone deacetylase 7B) (HD7) (HD7b) (Histone deacetylase related protein) (MEF2 interacting transcription repressor MITR)
  • Length: 1011  
  • Mass: 111297
  • Tissue specificity: Broadly expressed, with highest levels in brain, heart, muscle and testis. Isoform 3 is present in human bladder carcinoma cells (at protein level). {ECO
• Sequence:

  MHSMISSVDVKSEVPVGLEPISPLDLRTDLRMMMPVVDPVVREKQLQQELLLIQQQQQIQKQLLIAEFQKQHENL
  TRQHQAQLQEHIKELLAIKQQQELLEKEQKLEQQRQEQEVERHRREQQLPPLRGKDRGRERAVASTEVKQKLQEF
  LLSKSATKDTPTNGKNHSVSRHPKLWYTAAHHTSLDQSSPPLSGTSPSYKYTLPGAQDAKDDFPLRKTASEPNLK
  VRSRLKQKVAERRSSPLLRRKDGNVVTSFKKRMFEVTESSVSSSSPGSGPSSPNNGPTGSVTENETSVLPPTPHA
  EQMVSQQRILIHEDSMNLLSLYTSPSLPNITLGLPAVPSQLNASNSLKEKQKCETQTLRQGVPLPGQYGGSIPAS
  SSHPHVTLEGKPPNSSHQALLQHLLLKEQMRQQKLLVAGGVPLHPQSPLATKERISPGIRGTHKLPRHRPLNRTQ
  SAPLPQSTLAQLVIQQQHQQFLEKQKQYQQQIHMNKLLSKSIEQLKQPGSHLEEAEEELQGDQAMQEDRAPSSGN
  STRSDSSACVDDTLGQVGAVKVKEEPVDSDEDAQIQEMESGEQAAFMQQPFLEPTHTRALSVRQAPLAAVGMDGL
  EKHRLVSRTHSSPAASVLPHPAMDRPLQPGSATGIAYDPLMLKHQCVCGNSTTHPEHAGRIQSIWSRLQETGLLN
  KCERIQGRKASLEEIQLVHSEHHSLLYGTNPLDGQKLDPRILLGDDSQKFFSSLPCGGLGVDSDTIWNELHSSGA
  ARMAVGCVIELASKVASGELKNGFAVVRPPGHHAEESTAMGFCFFNSVAITAKYLRDQLNISKILIVDLDVHHGN
  GTQQAFYADPSILYISLHRYDEGNFFPGSGAPNEVGTGLGEGYNINIAWTGGLDPPMGDVEYLEAFRTIVKPVAK
  EFDPDMVLVSAGFDALEGHTPPLGGYKVTAKCFGHLTKQLMTLADGRVVLALEGGHDLTAICDASEACVNALLGN
  ELEPLAEDILHQSPNMNAVISLQKIIEIQSMSLKFS

• Structural information:
  • Interpro: IPR000286  IPR023801  IPR037138  IPR024643  IPR017320   IPR023696  
  • DIP: 39904
  • STRING: ENSP00000408617
• Other Databases: GeneCards:  HDAC9  Malacards:  HDAC9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1990678	histone H4-K16 deacetylation	IDA	biological process
GO:0042632	cholesterol homeostasis	IDA	biological process
GO:0034739	histone deacetylase activity (H4-K16 specific)	IDA	molecular function
GO:0050710	negative regulation of cytokine secretion	IDA	biological process
GO:0051005	negative regulation of lipoprotein lipase activity	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005080	protein kinase C binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000118	histone deacetylase complex	IEA	cellular component
GO:0004407	histone deacetylase activity	IEA	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0016575	histone deacetylation	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0004407	histone deacetylase activity	IEA	molecular function
GO:0032041	NAD-dependent histone deacetylase activity (H3-K14 specific)	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001975	response to amphetamine	IEA	biological process
GO:0030182	neuron differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0004407	histone deacetylase activity	IDA	molecular function
GO:0008134	transcription factor binding	IDA	molecular function
GO:0033558	protein deacetylase activity	IDA	molecular function
GO:0070491	repressing transcription factor binding	IDA	molecular function
GO:0003714	transcription corepressor activity	ISS	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0042826	histone deacetylase binding	IPI	molecular function
GO:0042826	histone deacetylase binding	IPI	molecular function
GO:0042826	histone deacetylase binding	IPI	molecular function
GO:0070491	repressing transcription factor binding	ISS	molecular function
GO:0070491	repressing transcription factor binding	IPI	molecular function
GO:0032869	cellular response to insulin stimulus	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0035097	histone methyltransferase complex	ISS	cellular component
GO:0048742	regulation of skeletal muscle fiber development	ISS	biological process
GO:0090050	positive regulation of cell migration involved in sprouting angiogenesis	IMP	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005667	transcription regulator complex	IDA	cellular component
GO:0005667	transcription regulator complex	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0016575	histone deacetylation	IDA	biological process
GO:0034983	peptidyl-lysine deacetylation	IDA	biological process
GO:0070932	histone H3 deacetylation	IDA	biological process
GO:0070933	histone H4 deacetylation	IDA	biological process
GO:0007507	heart development	ISS	biological process
GO:0051153	regulation of striated muscle cell differentiation	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0042113	B cell activation	TAS	biological process
GO:0008134	transcription factor binding	IPI	molecular function
GO:0006954	inflammatory response	TAS	biological process
GO:0005737	cytoplasm	TAS	cellular component
GO:0035097	histone methyltransferase complex	ISS	cellular component
GO:0000118	histone deacetylase complex	TAS	cellular component
GO:0048742	regulation of skeletal muscle fiber development	ISS	biological process
GO:0030183	B cell differentiation	TAS	biological process
GO:0051153	regulation of striated muscle cell differentiation	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa05034	Alcoholism
hsa05203	Viral carcinogenesis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881