• Gene id: 171546

Gene Summary

• Gene Symbol: SPTSSA   Gene   UCSC   Ensembl
• Aliases: C14orf147, SSSPTA
• Gene name: serine palmitoyltransferase small subunit A
• Alternate names: serine palmitoyltransferase small subunit A, small subunit of serine palmitoyltransferase A,
• Gene location: 14q13.1 (34462239: 34432787)     Exons: 2     NC_000014.9
• Gene summary(Entrez): Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes the first committed and rate-limiting step in sphingolipid biosynthesis. SSSPTA is a small SPT subunit that stimulates SPT activity and confers acyl-CoA preference to the SPT catalytic heterodimer o
• OMIM: 613540

Protein Summary

• Protein general information: Q969W0  
  • Name: Serine palmitoyltransferase small subunit A (Small subunit of serine palmitoyltransferase A) (ssSPTa)
  • Length: 71  
  • Mass: 8466
• Sequence:

  MAGMALARAWKQMSWFYYQYLLVTALYMLEPWERTVFNSMLVSIVGMALYTGYVFMPQHIMAILHYFEIVQ

• Structural information:
  • Interpro: IPR024512  
  • DIP: 60754
  • STRING: ENSP00000298130
• Other Databases: GeneCards:  SPTSSA  Malacards:  SPTSSA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046513	ceramide biosynthetic process	IBA	biological process
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0017059	serine C-palmitoyltransferase complex	IBA	cellular component
GO:0004758	serine C-palmitoyltransferase activity	IBA	contributes to
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0008104	protein localization	IDA	biological process
GO:0017059	serine C-palmitoyltransferase complex	IDA	cellular component
GO:0004758	serine C-palmitoyltransferase activity	IDA	contributes to
GO:0005515	protein binding	IPI	molecular function
GO:0030148	sphingolipid biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006665	sphingolipid metabolic process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0046513	ceramide biosynthetic process	IDA	biological process
GO:0004758	serine C-palmitoyltransferase activity	IDA	molecular function
GO:0030148	sphingolipid biosynthetic process	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	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:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006665	sphingolipid metabolic process	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq