MGP Database

MGP004010

Record overview

MGPD ID	MGP004010
Gene ID	9791
Species	Homo sapiens (Human)
Gene Name	phosphatidylserine synthase 1
Gene Symbol	PTDSS1
Synonyms	LMHD; PSS1; PSSA;
Alternate names	phosphatidylserine synthase 1; PSS-1; ptdSer synthase 1; serine-exchange enzyme I;
Chromosome	8
Map Location	8q22
EC Number	2.7.8.29
Summary	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]
Orthologs	View 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:

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:

`MEYAVNCHVITWERIISHFDIFAFGHFWGWAMKALLIRSYGLCWTISITWELTELFFMHLLPNFAECWWDQVILDILLCNGGGIWLGMVVCRFLEMRTYH WASFKDIHTTTGKIKRAVLQFTPASWTYVRWFDPKSSFQRVAGVYLFMIIWQLTELNTFFLKHIFVFQASHPLSWGRILFIGGITAPTVRQYYAYLTDTQ CKRVGTQCWVFGVIGFLEAIVCIKFGQDLFSKTQILYVVLWLLCVAFTTFLCLYGMIWYAEHYGHREKTYSECEDGTYSPEISWHHRKGTKGSEDSPPKH AGNNESHSSRRRNRHSKSKVTNGVGKK`