• Gene id: 79685

Gene Summary

• Gene Symbol: SAP30L   Gene   UCSC   Ensembl
• Aliases: NS4ATP2
• Gene name: SAP30 like
• Alternate names: histone deacetylase complex subunit SAP30L, HCV non-structural protein 4A-transactivated protein 2, Sin3A associated protein p30-like, sin3 corepressor complex subunit SAP30L, sin3-associated protein p30-like,
• Gene location: 5q33.2 (154445968: 154461052)     Exons: 5     NC_000005.10
• OMIM: 610398

Protein Summary

• Protein general information: Q9HAJ7  
  • Name: Histone deacetylase complex subunit SAP30L (HCV non structural protein 4A transactivated protein 2) (Sin3 corepressor complex subunit SAP30L) (Sin3 associated protein p30 like)
  • Length: 183  
  • Mass: 20877
  • Tissue specificity: Detected in brain and ovary, and at lower levels in heart, small intestine, lung, kidney, skeletal muscle, stomach and spleen (at protein level) (PubMed
• Sequence:

  MNGFSTEEDSREGPPAAPAAAAPGYGQSCCLIEDGERCVRPAGNASFSKRVQKSISQKKLKLDIDKSVRHLYICD
  FHKNFIQSVRNKRKRKTSDDGGDSPEHDTDIPEVDLFQLQVNTLRRYKRHYKLQTRPGFNKAQLAETVSRHFRNI
  PVNEKETLAYFIYMVKSNKSRLDQKSEGGKQLE

• Structural information:
  • Interpro: IPR024145  IPR038291  IPR025718  IPR025717  
  • PDB: 2N1U
  • PDBsum: 2N1U
  • STRING: ENSP00000297109
• Other Databases: GeneCards:  SAP30L  Malacards:  SAP30L

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:0010314	phosphatidylinositol-5-phosphate binding	IDA	molecular function
GO:0042393	histone binding	IDA	molecular function
GO:0005730	nucleolus	IDA	cellular component
GO:0008270	zinc ion binding	IDA	molecular function
GO:0031491	nucleosome binding	IDA	molecular function
GO:0044378	non-sequence-specific DNA binding, bending	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0008289	lipid binding	IEA	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005730	nucleolus	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray