• Gene id: 8819

Gene Summary

• Gene Symbol: SAP30   Gene   UCSC   Ensembl
• Gene name: Sin3A associated protein 30
• Alternate names: histone deacetylase complex subunit SAP30, 30 kDa Sin3-associated polypeptide, Sin3 corepressor complex subunit SAP30, Sin3-associated polypeptide, 30kDa, Sin3A-associated protein, 30kDa, sin3-associated polypeptide p30, sin3-associated polypeptide, 30 kDa,
• Gene location: 4q34.1 (173370953: 173377531)     Exons: 4     NC_000004.12
• Gene summary(Entrez): Histone acetylation plays a key role in the regulation of eukaryotic gene expression. Histone acetylation and deacetylation are catalyzed by multisubunit complexes. The protein encoded by this gene is a component of the histone deacetylase complex, which
• OMIM: 603378

Protein Summary

• Protein general information: O75446  
  • Name: Histone deacetylase complex subunit SAP30 (30 kDa Sin3 associated polypeptide) (Sin3 corepressor complex subunit SAP30) (Sin3 associated polypeptide p30)
  • Length: 220  
  • Mass: 23306
  • Tissue specificity: Expressed in all tissues tested with highest levels in pancreas, ovary, PBL, spleen and thymus; lowest levels in brain, placenta, lung and kidney. {ECO
• Sequence:

  MNGFTPDEMSRGGDAAAAVAAVVAAAAAAASAGNGTGAGTGAEVPGAGAVSAAGPPGAAGPGPGQLCCLREDGER
  CGRAAGNASFSKRIQKSISQKKVKIELDKSARHLYICDYHKNLIQSVRNRRKRKGSDDDGGDSPVQDIDTPEVDL
  YQLQVNTLRRYKRHFKLPTRPGLNKAQLVEIVGCHFRSIPVNEKDTLTYFIYSVKNDKNKSDLKVDSGVH

• Structural information:
  • Interpro: IPR024145  IPR038291  IPR025718  IPR025717  
  • PDB: 2KDP
  • PDBsum: 2KDP
  • DIP: 33328
  • STRING: ENSP00000296504
• Other Databases: GeneCards:  SAP30  Malacards:  SAP30

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000118	histone deacetylase complex	IBA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IBA	biological process
GO:0003712	transcription coregulator activity	IBA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0035914	skeletal muscle cell differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0000118	histone deacetylase complex	IDA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0003714	transcription corepressor activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05169	Epstein-Barr virus infection

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
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
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray