• Gene id: 55869

Gene Summary

• Gene Symbol: HDAC8   Gene   UCSC   Ensembl
• Aliases: CDA07, CDLS5, HD8, HDACL1, KDAC8, MRXS6, RPD3, WTS
• Gene name: histone deacetylase 8
• Alternate names: histone deacetylase 8, histone deacetylase-like 1,
• Gene location: Xq13.1 (125161038: 124984316)     Exons: 20     NC_000010.11
• 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 b
• OMIM: 300269

Protein Summary

• Protein general information: Q9BY41  
  • Name: Histone deacetylase 8 (HD8) (EC 3.5.1.98)
  • Length: 377  
  • Mass: 41758
  • Tissue specificity: Weakly expressed in most tissues. Expressed at higher level in heart, brain, kidney and pancreas and also in liver, lung, placenta, prostate and kidney. {ECO
• Sequence:

  MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRIVKPKVASMEEMATFHTDAY
  LQHLQKVSQEGDDDHPDSIEYGLGYDCPATEGIFDYAAAIGGATITAAQCLIDGMCKVAINWSGGWHHAKKDEAS
  GFCYLNDAVLGILRLRRKFERILYVDLDLHHGDGVEDAFSFTSKVMTVSLHKFSPGFFPGTGDVSDVGLGKGRYY
  SVNVPIQDGIQDEKYYQICESVLKEVYQAFNPKAVVLQLGADTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLI
  LGGGGYNLANTARCWTYLTGVILGKTLSSEIPDHEFFTAYGPDYVLEITPSCRPDRNEPHRIQQILNYIKGNLKH
  VV

• Structural information:
  • Interpro: IPR000286  IPR003084  IPR023801  IPR037138  IPR023696  
  • PDB: 1T64 1T67 1T69 1VKG 1W22 2V5W 2V5X 3EW8 3EWF 3EZP 3EZT 3F06 3F07 3F0R 3MZ3 3MZ4 3MZ6 3MZ7 3RQD 3SFF 3SFH 4QA0 4QA1 4QA2 4QA3 4QA4 4QA5 4QA6 4QA7 4RN0 4RN1 4RN2 5BWZ 5D1B 5D1C 5D1D 5DC5 5DC6 5DC7 5DC8 5FCW 5THS 5THT 5THU 5THV 5VI6 6HSK
  • PDBsum: 1T64 1T67 1T69 1VKG 1W22 2V5W 2V5X 3EW8 3EWF 3EZP 3EZT 3F06 3F07 3F0R 3MZ3 3MZ4 3MZ6 3MZ7 3RQD 3SFF 3SFH 4QA0 4QA1 4QA2 4QA3 4QA4 4QA5 4QA6 4QA7 4RN0 4RN1 4RN2 5BWZ 5D1B 5D1C 5D1D 5DC5 5DC6 5DC7 5DC8 5FCW 5THS 5THT 5THU 5THV 5VI6 6HSK
  • STRING: ENSP00000362674
• Other Databases: GeneCards:  HDAC8  Malacards:  HDAC8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000118	histone deacetylase complex	IBA	cellular component
GO:0004407	histone deacetylase activity	IBA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0070932	histone H3 deacetylation	IBA	biological process
GO:0070933	histone H4 deacetylation	IBA	biological process
GO:0071922	regulation of cohesin loading	IMP	biological process
GO:0007062	sister chromatid cohesion	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0004407	histone deacetylase activity	IEA	molecular function
GO:0016575	histone deacetylation	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0004407	histone deacetylase activity	TAS	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	TAS	biological process
GO:0000228	nuclear chromosome	TAS	cellular component
GO:0006333	chromatin assembly or disassembly	TAS	biological process
GO:0004407	histone deacetylase activity	IEA	molecular function
GO:0032041	NAD-dependent histone deacetylase activity (H3-K14 specific)	IEA	molecular function
GO:0004407	histone deacetylase activity	TAS	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0031397	negative regulation of protein ubiquitination	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0031647	regulation of protein stability	IDA	biological process
GO:0030544	Hsp70 protein binding	IPI	molecular function
GO:0030544	Hsp70 protein binding	IPI	molecular function
GO:0051879	Hsp90 protein binding	IPI	molecular function
GO:0051879	Hsp90 protein binding	IPI	molecular function
GO:0032204	regulation of telomere maintenance	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0008134	transcription factor binding	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0006325	chromatin organization	TAS	biological process
GO:0000118	histone deacetylase complex	TAS	cellular component
GO:0004407	histone deacetylase activity	TAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05034	Alcoholism
hsa05203	Viral carcinogenesis

Diseases

Associated diseases	References
Cornelia de Lange syndrome	KEGG:H00631
Cornelia de Lange syndrome	KEGG:H00631
Wilson-Turner syndrome	PMID:22889856
Cornelia de Lange syndrome 5	PMID:22889856
Hirschsprung's disease	PMID:16771768
Chronic obstructive pulmonary disease	PMID:15888697
Associated with spermatogenesis and epigenetic regulation	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Associated with spermatogenesis and epigenetic regulation			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray