Gene/Proteome Database (LMPD)
LMPD ID
LMP002660
Gene ID
Species
Homo sapiens (Human)
Gene Name
phosphatidylserine synthase 1
Gene Symbol
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
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
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
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
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] |