• Gene id: 10284

Gene Summary

• Gene Symbol: SAP18   Gene   UCSC   Ensembl
• Aliases: 2HOR0202, SAP18P
• Gene name: Sin3A associated protein 18
• Alternate names: histone deacetylase complex subunit SAP18, 18 kDa Sin3-associated polypeptide, Sin3A-associated protein, 18kDa, cell growth inhibiting protein 38, cell growth-inhibiting gene 38 protein, epididymis secretory sperm binding protein, histone deacetlyase complex su,
• Gene location: 13q12.11 (200620790: 200551496)     Exons: 32     NC_000001.11
• 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: 602949

Protein Summary

• Protein general information: O00422  
  • Name: Histone deacetylase complex subunit SAP18 (18 kDa Sin3 associated polypeptide) (2HOR0202) (Cell growth inhibiting gene 38 protein) (Sin3 associated polypeptide p18)
  • Length: 153  
  • Mass: 17561
  • Tissue specificity: Ubiquitous.
• Sequence:

  MAVESRVTQEEIKKEPEKPIDREKTCPLLLRVFTTNNGRHHRMDEFSRGNVPSSELQIYTWMDATLKELTSLVKE
  VYPEARKKGTHFNFAIVFTDVKRPGYRVKEIGSTMSGRKGTDDSMTLQSQKFQIGDYLDIAITPPNRAPPPSGRM
  RPY

• Structural information:
  • Interpro: IPR017250  IPR010516  IPR042534  
  • PDB: 2HDE
  • PDBsum: 2HDE
  • DIP: 33590
  • STRING: ENSP00000481842
• Other Databases: GeneCards:  SAP18  Malacards:  SAP18

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035145	exon-exon junction complex	IDA	colocalizes with
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IDA	biological process
GO:0061574	ASAP complex	IDA	cellular component
GO:0048025	negative regulation of mRNA splicing, via spliceosome	IDA	biological process
GO:0043065	positive regulation of apoptotic process	IDA	biological process
GO:0016607	nuclear speck	IDA	cellular component
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0008380	RNA splicing	IEA	biological process
GO:0006397	mRNA processing	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0000118	histone deacetylase complex	TAS	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	TAS	biological process
GO:0003714	transcription corepressor activity	TAS	molecular function
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:1903507	negative regulation of nucleic acid-templated transcription	IEA	biological process
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03013	RNA transport
hsa03015	mRNA surveillance pathway

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			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
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