PTDSS1
entrez
9791
canonical
uniprot
P48651
canonical
ensembl
ENSG00000156471
resolver
ensp
ENSP00000430548
resolver
genesymbol
PTDSS1
resolver
genesymbol_syn
KIAA0024
resolver
genesymbol_syn
PSSA
resolver
hgnc
HGNC:9587
resolver
uniprot
B4DE85
resolver
uniprot
E5RFC5
resolver
uniprot
Q9BUQ5
resolver
uniprot_entry
PTSS1_HUMAN
resolver
uniprot_sec
B4DE85
resolver
uniprot_sec
E5RFC5
resolver
uniprot_sec
Q9BUQ5
resolver
activity_regulation
ACTIVITY REGULATION: Requires calcium ions (PubMed:19014349). Inhibited by exogenous phosphatidylserine (PubMed:24241535). {ECO:0000269|PubMed:19014349, ECO:0000269|PubMed:24241535}.
uniprot
proteins
amino_acid_sequence
MASCVGSRTLSKDDVNYKMHFRMINEQQVEDITIDFFYRPHTITLLSFTIVSLMYFAFTRDDSVPEDNIWRGILSVIFFFLIISVLAFPNGPFTRPHPALWRMVFGLSVLYFLFLVFLLFLNFEQVKSLMYWLDPNLRYATREADVMEYAVNCHVITWERIISHFDIFAFGHFWGWAMKALLIRSYGLCWTISITWELTELFFMHLLPNFAECWWDQVILDILLCNGGGIWLGMVVCRFLEMRTYHWASFKDIHTTTGKIKRAVLQFTPASWTYVRWFDPKSSFQRVAGVYLFMIIWQLTELNTFFLKHIFVFQASHPLSWGRILFIGGITAPTVRQYYAYLTDTQCKRVGTQCWVFGVIGFLEAIVCIKFGQDLFSKTQILYVVLWLLCVAFTTFLCLYGMIWYAEHYGHREKTYSECEDGTYSPEISWHHRKGTKGSEDSPPKHAGNNESHSSRRRNRHSKSKVTNGVGKK
uniprot
proteins
disease_involvement
DISEASE: Lenz-Majewski hyperostotic dwarfism (LMHD) [MIM:151050]: A syndrome of intellectual disability and multiple congenital anomalies that features generalized craniotubular hyperostosis. LMHD is characterized by the combination of sclerosing bone dysplasia, intellectual disability and distinct craniofacial, dental, cutaneous and distal limb anomalies. The progressive generalized hyperostosis associated with this syndrome affects the cranium, the vertebrae and the diaphyses of tubular bones, leading to severe growth restriction. {ECO:0000269|PubMed:24241535}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.8.29
uniprot
proteins
function
FUNCTION: Catalyzes a base-exchange reaction in which the polar head group of phosphatidylethanolamine (PE) or phosphatidylcholine (PC) is replaced by L-serine (PubMed:19014349, PubMed:24241535). Catalyzes mainly the conversion of phosphatidylcholine (PubMed:19014349, PubMed:24241535). Also converts, in vitro and to a lesser extent, phosphatidylethanolamine (PubMed:19014349, PubMed:24241535). {ECO:0000269|PubMed:19014349, ECO:0000269|PubMed:24241535}.
uniprot
proteins
mass_dalton
55528
uniprot
proteins
pathway_participation
PATHWAY: Phospholipid metabolism; phosphatidylserine biosynthesis.
uniprot
proteins
protein_family
Phosphatidyl serine synthase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19014349
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24241535
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
7584026
uniprot
proteins
sequence_length
473
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q99LH2}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q99LH2}. Note=Highly enriched in the mitochondria-associated membrane (MAM). {ECO:0000250|UniProtKB:Q99LH2}.
uniprot
proteins
transmembrane_region
TRANSMEM 36..56; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 73..93; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 103..123; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 187..207; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 217..237; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 287..307; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 320..342; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 356..376; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 384..404; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins