Gene/Proteome Database (LMPD)

LMPD ID
LMP002660
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 REVIEWED
MASCVGSRTLSKDDVNYKMHFRMINEQQVEDITIDFFYRPHTITLLSFTIVSLMYFAFTRDDSVPEDNIWRGILSVIFFFLIISVLAFPNGPFTRPHPALWRMVFGLSVLYFLFLVFLLFLNFEQVKSLMYWLDPNLRYATREADVMEYAVNCHVITWERIISHFDIFAFGHFWGWAMKALLIRSYGLCWTISITWELTELFFMHLLPNFAECWWDQVILDILLCNGGGIWLGMVVCRFLEMRTYHWASFKDIHTTTGKIKRAVLQFTPASWTYVRWFDPKSSFQRVAGVYLFMIIWQLTELNTFFLKHIFVFQASHPLSWGRILFIGGITAPTVRQYYAYLTDTQCKRVGTQCWVFGVIGFLEAIVCIKFGQDLFSKTQILYVVLWLLCVAFTTFLCLYGMIWYAEHYGHREKTYSECEDGTYSPEISWHHRKGTKGSEDSPPKHAGNNESHSSRRRNRHSKSKVTNGVGKK
phosphatidylserine synthase 1 isoform 2
Refseq ID NP_001277154
Protein GI 589811544
UniProt ID P48651
mRNA ID NM_001290225
Length 327
RefSeq Status REVIEWED
MEYAVNCHVITWERIISHFDIFAFGHFWGWAMKALLIRSYGLCWTISITWELTELFFMHLLPNFAECWWDQVILDILLCNGGGIWLGMVVCRFLEMRTYHWASFKDIHTTTGKIKRAVLQFTPASWTYVRWFDPKSSFQRVAGVYLFMIIWQLTELNTFFLKHIFVFQASHPLSWGRILFIGGITAPTVRQYYAYLTDTQCKRVGTQCWVFGVIGFLEAIVCIKFGQDLFSKTQILYVVLWLLCVAFTTFLCLYGMIWYAEHYGHREKTYSECEDGTYSPEISWHHRKGTKGSEDSPPKHAGNNESHSSRRRNRHSKSKVTNGVGKK

Gene Information

Entrez Gene ID
9791
Gene Name
phosphatidylserine synthase 1
Gene Symbol
PTDSS1
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005789 ISS:UniProtKB C endoplasmic reticulum membrane
GO:0016021 IEA:UniProtKB-KW C integral component of membrane
GO:0016020 IDA:UniProtKB C membrane
GO:0016740 IEA:UniProtKB-KW F transferase activity
GO:0046474 TAS:Reactome P glycerophospholipid biosynthetic process
GO:0006659 TAS:Reactome P phosphatidylserine biosynthetic process
GO:0006644 TAS:Reactome P phospholipid metabolic process
GO:0044281 TAS:Reactome P small molecule metabolic process

KEGG Pathway Links

KEGG Pathway ID Description
hsa00564 Glycerophospholipid metabolism
hsa01100 Metabolic pathways

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_121401 Glycerophospholipid biosynthesis
REACT_120823 Synthesis of PS

Domain Information

InterPro Annotations

Accession Description
IPR004277 Phosphatidyl serine synthase

UniProt Annotations

Entry Information

Gene Name
phosphatidylserine synthase 1
Protein Entry
PTSS1_HUMAN
UniProt ID
P48651
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P48651-1; Sequence=Displayed; Name=2; IsoId=P48651-2; Sequence=VSP_055980; Note=No experimental confirmation available.;
Biophysicochemical Properties Kinetic parameters: KM=67 uM for serine (in the presence of 2 mM PC) ; KM=24 uM for serine (in the presence of 1 mM PE) ; pH dependence: Optimum pH for both PC and PE is between 7.0 and 7.5. ;
Catalytic Activity L-1-phosphatidylethanolamine + L-serine = L-1- phosphatidylserine + ethanolamine.
Disease Lenz-Majewski hyperostotic dwarfism (LMHD) [MIM
Enzyme Regulation Requires calcium ions. Activated by exogenous phosphatidylethanolamine. {ECO
Function Catalyzes a base-exchange reaction in which the polar head group of phosphatidylethanolamine (PE) or phosphatidylcholine (PC) is replaced by L-serine. In membranes, PTDSS1 catalyzes mainly the conversion of phosphatidylcholine. Also converts, in vitro and to a lesser extent, phosphatidylethanolamine.
Pathway Phospholipid metabolism; phosphatidylserine biosynthesis.
Similarity Belongs to the phosphatidyl serine synthase family.
Subcellular Location Endoplasmic reticulum membrane {ECO

Identical and Related Proteins

Unique RefSeq proteins for LMP002660 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
7662647 RefSeq NP_055569 473 phosphatidylserine synthase 1 isoform 1
589811544 RefSeq NP_001277154 327 phosphatidylserine synthase 1 isoform 2

Identical Sequences to LMP002660 proteins

Reference Database Accession Length Protein Name
GI:589811544 GenBank AAH02376.2 327 PTDSS1 protein [Homo sapiens]
GI:7662647 GenBank JAA13410.1 473 phosphatidylserine synthase 1 [Pan troglodytes]
GI:7662647 GenBank JAA24277.1 473 phosphatidylserine synthase 1 [Pan troglodytes]
GI:7662647 GenBank JAA44243.1 473 phosphatidylserine synthase 1 [Pan troglodytes]
GI:7662647 GenBank AHD73895.1 473 Sequence 12353 from patent US 8586006
GI:7662647 GenBank AIC50435.1 473 PTDSS1, partial [synthetic construct]
GI:589811544 GenBank AIC59545.1 327 PTDSS1, partial [synthetic construct]
GI:7662647 RefSeq XP_004047380.1 473 PREDICTED: phosphatidylserine synthase 1 [Gorilla gorilla gorilla]

Related Sequences to LMP002660 proteins

Reference Database Accession Length Protein Name
GI:589811544 DBBJ BAA03520.1 473 KIAA0024 [Homo sapiens]
GI:589811544 DBBJ BAG09567.1 473 phosphatidylserine synthase 1, partial [synthetic construct]
GI:7662647 GenBank EHH28661.1 473 Phosphatidylserine synthase 1 [Macaca mulatta]
GI:7662647 GenBank EHH64319.1 473 Phosphatidylserine synthase 1 [Macaca fascicularis]
GI:7662647 GenBank AFE81082.1 473 phosphatidylserine synthase 1 [Macaca mulatta]
GI:7662647 GenBank AFH34835.1 473 phosphatidylserine synthase 1 [Macaca mulatta]
GI:7662647 GenBank AFI38905.1 473 phosphatidylserine synthase 1 [Macaca mulatta]
GI:589811544 GenBank AIC50435.1 473 PTDSS1, partial [synthetic construct]
GI:589811544 RefSeq XP_519868.2 473 PREDICTED: phosphatidylserine synthase 1 [Pan troglodytes]
GI:589811544 RefSeq XP_004047380.1 473 PREDICTED: phosphatidylserine synthase 1 [Gorilla gorilla gorilla]
GI:7662647 RefSeq XP_010373377.1 473 PREDICTED: phosphatidylserine synthase 1 isoform X1 [Rhinopithecus roxellana]
GI:589811544 SwissProt P48651.1 473 RecName: Full=Phosphatidylserine synthase 1; Short=PSS-1; Short=PtdSer synthase 1; AltName: Full=Serine-exchange enzyme I [Homo sapiens]