Homo sapiens Gene: PTDSS1
Summary
InnateDB Gene IDBG-29455.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PTDSS1
Gene Name phosphatidylserine synthase 1
Synonyms LMHD; PSS1; PSSA;
Species Homo sapiens
Ensembl Gene ENSG00000156471
Encoded Proteins
phosphatidylserine synthase 1
phosphatidylserine synthase 1
phosphatidylserine synthase 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Phosphatidylserine (PS) accounts for 5 to 10% of cell membrane phospholipids. In addition to its role as a structural component, PS is involved in cell signaling, blood coagulation, and apoptosis. PS is synthesized by a calcium-dependent base-exchange reaction catalyzed by PS synthases (EC 2.7.8.8), like PTDSS1, that exchange L-serine for the polar head group of phosphatidylcholine (PC) or phosphatidylethanolamine (PE) (Sturbois-Balcerzak et al., 2001 [PubMed 11084049]).[supplied by OMIM, May 2009]
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 a structural role as well as a signaling role. Defects in this gene are a cause of Lenz-Majewski hyperostotic dwarfism. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:96261715-96336995
Strand Forward strand
Band q22.1
Transcripts
ENST00000337004 ENSP00000337331
ENST00000517309 ENSP00000430548
ENST00000517557
ENST00000518776
ENST00000522072 ENSP00000430928
ENST00000517982
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0016740 transferase activity
Biological Process
GO:0006644 phospholipid metabolic process
GO:0006659 phosphatidylserine biosynthetic process
GO:0044281 small molecule metabolic process
GO:0046474 glycerophospholipid biosynthetic process
Cellular Component
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Metabolism of lipids and lipoproteins pathway
Synthesis of PS pathway
Glycerophospholipid biosynthesis pathway
Phospholipid metabolism pathway
Metabolism pathway
KEGG
Glycerophospholipid metabolism pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.292579 Hs.711313 Hs.738082
RefSeq NM_001290225 NM_014754
HUGO
OMIM
CCDS CCDS6271
HPRD 17926
IMGT
EMBL
GenPept
RNA Seq Atlas