• Gene id: 9791

Gene Summary

• Gene Symbol: PTDSS1   Gene   UCSC   Ensembl
• Aliases: LMHD, PSS1, PSSA
• Gene name: phosphatidylserine synthase 1
• Alternate names: phosphatidylserine synthase 1, PSS-1, ptdSer synthase 1, serine-exchange enzyme I,
• Gene location: 8q22.1 (96261901: 96336994)     Exons: 13     NC_000008.11
• Gene summary(Entrez): The protein encoded by this gene catalyzes the formation of phosphatidylserine from either phosphatidylcholine or phosphatidylethanolamine. Phosphatidylserine localizes to the mitochondria-associated membrane of the endoplasmic reticulum, where it serves

Protein Summary

• Protein general information: P48651  
  • Name: Phosphatidylserine synthase 1 (PSS 1) (PtdSer synthase 1) (EC 2.7.8.29) (Serine exchange enzyme I)
  • Length: 473  
  • Mass: 55528
• Sequence:

  MASCVGSRTLSKDDVNYKMHFRMINEQQVEDITIDFFYRPHTITLLSFTIVSLMYFAFTRDDSVPEDNIWRGILS
  VIFFFLIISVLAFPNGPFTRPHPALWRMVFGLSVLYFLFLVFLLFLNFEQVKSLMYWLDPNLRYATREADVMEYA
  VNCHVITWERIISHFDIFAFGHFWGWAMKALLIRSYGLCWTISITWELTELFFMHLLPNFAECWWDQVILDILLC
  NGGGIWLGMVVCRFLEMRTYHWASFKDIHTTTGKIKRAVLQFTPASWTYVRWFDPKSSFQRVAGVYLFMIIWQLT
  ELNTFFLKHIFVFQASHPLSWGRILFIGGITAPTVRQYYAYLTDTQCKRVGTQCWVFGVIGFLEAIVCIKFGQDL
  FSKTQILYVVLWLLCVAFTTFLCLYGMIWYAEHYGHREKTYSECEDGTYSPEISWHHRKGTKGSEDSPPKHAGNN
  ESHSSRRRNRHSKSKVTNGVGKK

• Structural information:
  • Interpro: IPR004277  
  • STRING: ENSP00000430548
• Other Databases: GeneCards:  PTDSS1  Malacards:  PTDSS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005789	endoplasmic reticulum membrane	ISS	cellular component
GO:0016020	membrane	ISS	cellular component
GO:0006659	phosphatidylserine biosynthetic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0008654	phospholipid biosynthetic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0106245	L-serine-phosphatidylethanolamine phosphatidyltransferase activity	IEA	molecular function
GO:0106245	L-serine-phosphatidylethanolamine phosphatidyltransferase activity	IDA	molecular function
GO:0006659	phosphatidylserine biosynthetic process	IDA	biological process
GO:0006659	phosphatidylserine biosynthetic process	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0016740	transferase activity	TAS	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006659	phosphatidylserine biosynthetic process	IEA	biological process
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00564	Glycerophospholipid metabolism

Diseases

Associated diseases	References
Lenz-Majewski syndrome	KEGG:H01832
Lenz-Majewski syndrome	KEGG:H01832
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq