LMPD Database

LMP002660

Record overview

LMPD IDLMP002660
Gene ID9791
SpeciesHomo sapiens (Human)
Gene Namephosphatidylserine synthase 1
Gene SymbolPTDSS1
SynonymsLMHD; PSS1; PSSA
Alternate namesphosphatidylserine synthase 1; PSS-1; ptdSer synthase 1; serine-exchange enzyme I
Chromosome8
Map Location8q22
EC Number2.7.8.29
SummaryThe 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]
OrthologsView orthologs and multiple alignments for PTDSS1

Proteins

phosphatidylserine synthase 1 isoform 1
Refseq ID:NP_055569
Protein GI:7662647
UniProt ID:P48651
mRNA ID:NM_014754
Length:473
RefSeq Status:REVIEWED
MASCVGSRTLSKDDVNYKMHFRMINEQQVEDITIDFFYRPHTITLLSFTIVSLMYFAFTRDDSVPEDNIWRGILSVIFFFLIISVLAFPNGPFTRPHPAL
WRMVFGLSVLYFLFLVFLLFLNFEQVKSLMYWLDPNLRYATREADVMEYAVNCHVITWERIISHFDIFAFGHFWGWAMKALLIRSYGLCWTISITWELTE
LFFMHLLPNFAECWWDQVILDILLCNGGGIWLGMVVCRFLEMRTYHWASFKDIHTTTGKIKRAVLQFTPASWTYVRWFDPKSSFQRVAGVYLFMIIWQLT
ELNTFFLKHIFVFQASHPLSWGRILFIGGITAPTVRQYYAYLTDTQCKRVGTQCWVFGVIGFLEAIVCIKFGQDLFSKTQILYVVLWLLCVAFTTFLCLY
GMIWYAEHYGHREKTYSECEDGTYSPEISWHHRKGTKGSEDSPPKHAGNNESHSSRRRNRHSKSKVTNGVGKK
 
phosphatidylserine synthase 1 isoform 2
Refseq ID:NP_001277154
Protein GI:589811544
UniProt ID:P48651
mRNA ID:NM_001290225
Length:327
RefSeq Status:REVIEWED
MEYAVNCHVITWERIISHFDIFAFGHFWGWAMKALLIRSYGLCWTISITWELTELFFMHLLPNFAECWWDQVILDILLCNGGGIWLGMVVCRFLEMRTYH
WASFKDIHTTTGKIKRAVLQFTPASWTYVRWFDPKSSFQRVAGVYLFMIIWQLTELNTFFLKHIFVFQASHPLSWGRILFIGGITAPTVRQYYAYLTDTQ
CKRVGTQCWVFGVIGFLEAIVCIKFGQDLFSKTQILYVVLWLLCVAFTTFLCLYGMIWYAEHYGHREKTYSECEDGTYSPEISWHHRKGTKGSEDSPPKH
AGNNESHSSRRRNRHSKSKVTNGVGKK