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Protein

Phosphatidylserine synthase 1

Gene

PTDSS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.

Catalytic activityi

L-1-phosphatidylethanolamine + L-serine = L-1-phosphatidylserine + ethanolamine.

Activity regulationi

Requires calcium ions. Activated by exogenous phosphatidylethanolamine.2 Publications

Kineticsi

  1. KM=67 µM for serine (in the presence of 2 mM PC)1 Publication
  2. KM=24 µM for serine (in the presence of 1 mM PE)1 Publication

    pH dependencei

    Optimum pH for both PC and PE is between 7.0 and 7.5.1 Publication

    Pathwayi: phosphatidylserine biosynthesis

    This protein is involved in the pathway phosphatidylserine biosynthesis, which is part of Phospholipid metabolism.
    View all proteins of this organism that are known to be involved in the pathway phosphatidylserine biosynthesis and in Phospholipid metabolism.

    GO - Molecular functioni

    GO - Biological processi

    Keywordsi

    Molecular functionTransferase
    Biological processLipid biosynthesis, Lipid metabolism, Phospholipid biosynthesis, Phospholipid metabolism

    Enzyme and pathway databases

    BioCyciMetaCyc:HS08129-MONOMER
    ReactomeiR-HSA-1483101 Synthesis of PS
    UniPathwayi
    UPA00948

    Chemistry databases

    SwissLipidsiSLP:000001060

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Phosphatidylserine synthase 1 (EC:2.7.8.29)
    Short name:
    PSS-1
    Short name:
    PtdSer synthase 1
    Alternative name(s):
    Serine-exchange enzyme I
    Gene namesi
    Name:PTDSS1
    Synonyms:KIAA0024, PSSA
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    Proteomesi
    • UP000005640 Componenti: Chromosome 8

    Organism-specific databases

    EuPathDBiHostDB:ENSG00000156471.12
    HGNCiHGNC:9587 PTDSS1
    MIMi612792 gene
    neXtProtiNX_P48651

    Subcellular locationi

    Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

    Topology

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Topological domaini2 – 35CytoplasmicSequence analysisAdd BLAST34
    Transmembranei36 – 56HelicalSequence analysisAdd BLAST21
    Topological domaini57 – 72LumenalSequence analysisAdd BLAST16
    Transmembranei73 – 93HelicalSequence analysisAdd BLAST21
    Topological domaini94 – 102CytoplasmicSequence analysis9
    Transmembranei103 – 123HelicalSequence analysisAdd BLAST21
    Topological domaini124 – 186LumenalSequence analysisAdd BLAST63
    Transmembranei187 – 207HelicalSequence analysisAdd BLAST21
    Topological domaini208 – 216CytoplasmicSequence analysis9
    Transmembranei217 – 237HelicalSequence analysisAdd BLAST21
    Topological domaini238 – 286LumenalSequence analysisAdd BLAST49
    Transmembranei287 – 307HelicalSequence analysisAdd BLAST21
    Topological domaini308 – 319CytoplasmicSequence analysisAdd BLAST12
    Transmembranei320 – 342HelicalSequence analysisAdd BLAST23
    Topological domaini343 – 355LumenalSequence analysisAdd BLAST13
    Transmembranei356 – 376HelicalSequence analysisAdd BLAST21
    Topological domaini377 – 383CytoplasmicSequence analysis7
    Transmembranei384 – 404HelicalSequence analysisAdd BLAST21
    Topological domaini405 – 473LumenalSequence analysisAdd BLAST69

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Lenz-Majewski hyperostotic dwarfism (LMHD)1 Publication
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionA 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.
    See also OMIM:151050
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_070987265L → P in LMHD; does not affect protein levels; increases the rate of phosphatidylserine synthesis; profoundly impairs negative feedback enzyme regulation by phosphatidylserine. 1 PublicationCorresponds to variant dbSNP:rs587777090EnsemblClinVar.1
    Natural variantiVAR_070988269P → S in LMHD; does not affect protein levels; increases the rate of phosphatidylserine synthesis; profoundly impairs negative feedback enzyme regulation by phosphatidylserine. 1 PublicationCorresponds to variant dbSNP:rs587777089EnsemblClinVar.1
    Natural variantiVAR_070989353Q → R in LMHD; does not affect protein levels; increases the rate of phosphatidylserine synthesis; profoundly impairs negative feedback enzyme regulation by phosphatidylserine. 1 PublicationCorresponds to variant dbSNP:rs587777088EnsemblClinVar.1

    Keywords - Diseasei

    Disease mutation, Dwarfism, Mental retardation

    Organism-specific databases

    DisGeNETi9791
    MalaCardsiPTDSS1
    MIMi151050 phenotype
    OpenTargetsiENSG00000156471
    Orphaneti2658 Lenz-Majewski hyperostotic dwarfism
    PharmGKBiPA33939

    Chemistry databases

    DrugBankiDB00144 Phosphatidyl serine

    Polymorphism and mutation databases

    BioMutaiPTDSS1
    DMDMi1346881

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Initiator methionineiRemovedCombined sources
    ChainiPRO_00000568292 – 473Phosphatidylserine synthase 1Add BLAST472

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Modified residuei2N-acetylalanineCombined sources1
    Modified residuei417PhosphoserineCombined sources1
    Modified residuei425PhosphoserineCombined sources1
    Modified residuei442PhosphoserineCombined sources1
    Modified residuei454PhosphoserineCombined sources1

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    EPDiP48651
    MaxQBiP48651
    PaxDbiP48651
    PeptideAtlasiP48651
    PRIDEiP48651
    ProteomicsDBi55920

    PTM databases

    iPTMnetiP48651
    PhosphoSitePlusiP48651

    Expressioni

    Gene expression databases

    BgeeiENSG00000156471 Expressed in 235 organ(s), highest expression level in left ventricle myocardium
    CleanExiHS_PTDSS1
    ExpressionAtlasiP48651 baseline and differential
    GenevisibleiP48651 HS

    Organism-specific databases

    HPAiHPA016852

    Interactioni

    Protein-protein interaction databases

    BioGridi115135, 16 interactors
    IntActiP48651, 15 interactors
    MINTiP48651
    STRINGi9606.ENSP00000430548

    Structurei

    3D structure databases

    ProteinModelPortaliP48651
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiKOG2735 Eukaryota
    ENOG410XS7H LUCA
    GeneTreeiENSGT00530000063576
    HOGENOMiHOG000069882
    HOVERGENiHBG053765
    InParanoidiP48651
    KOiK08729
    OMAiHPAIWRI
    OrthoDBiEOG091G075F
    PhylomeDBiP48651
    TreeFamiTF300012

    Family and domain databases

    InterProiView protein in InterPro
    IPR004277 PSS
    PfamiView protein in Pfam
    PF03034 PSS, 1 hit

    Sequences (3+)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

    This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

    Isoform 1 (identifier: P48651-1) [UniParc]FASTAAdd to basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide
            10         20         30         40         50
    MASCVGSRTL SKDDVNYKMH FRMINEQQVE DITIDFFYRP HTITLLSFTI
    60 70 80 90 100
    VSLMYFAFTR DDSVPEDNIW RGILSVIFFF LIISVLAFPN GPFTRPHPAL
    110 120 130 140 150
    WRMVFGLSVL YFLFLVFLLF LNFEQVKSLM YWLDPNLRYA TREADVMEYA
    160 170 180 190 200
    VNCHVITWER IISHFDIFAF GHFWGWAMKA LLIRSYGLCW TISITWELTE
    210 220 230 240 250
    LFFMHLLPNF AECWWDQVIL DILLCNGGGI WLGMVVCRFL EMRTYHWASF
    260 270 280 290 300
    KDIHTTTGKI KRAVLQFTPA SWTYVRWFDP KSSFQRVAGV YLFMIIWQLT
    310 320 330 340 350
    ELNTFFLKHI FVFQASHPLS WGRILFIGGI TAPTVRQYYA YLTDTQCKRV
    360 370 380 390 400
    GTQCWVFGVI GFLEAIVCIK FGQDLFSKTQ ILYVVLWLLC VAFTTFLCLY
    410 420 430 440 450
    GMIWYAEHYG HREKTYSECE DGTYSPEISW HHRKGTKGSE DSPPKHAGNN
    460 470
    ESHSSRRRNR HSKSKVTNGV GKK
    Length:473
    Mass (Da):55,528
    Last modified:February 1, 1996 - v1
    Checksum:iCFC8F50A33CE038D
    GO
    Isoform 2 (identifier: P48651-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-146: Missing.

    Note: No experimental confirmation available.
    Show »
    Length:327
    Mass (Da):38,273
    Checksum:i6F14EC0246926405
    GO
    Isoform 3 (identifier: P48651-3) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-203: Missing.
         449-473: NNESHSSRRRNRHSKSKVTNGVGKK → EGTWGSLFEI...VAARCVEGKR

    Note: No experimental confirmation available.
    Show »
    Length:301
    Mass (Da):34,579
    Checksum:i12C03D0EEAF2DB9F
    GO

    Computationally mapped potential isoform sequencesi

    There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    J3KNR6J3KNR6_HUMAN
    Phosphatidylserine synthase 1, isof...
    PTDSS1 hCG_15747
    108Annotation score:

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_070987265L → P in LMHD; does not affect protein levels; increases the rate of phosphatidylserine synthesis; profoundly impairs negative feedback enzyme regulation by phosphatidylserine. 1 PublicationCorresponds to variant dbSNP:rs587777090EnsemblClinVar.1
    Natural variantiVAR_070988269P → S in LMHD; does not affect protein levels; increases the rate of phosphatidylserine synthesis; profoundly impairs negative feedback enzyme regulation by phosphatidylserine. 1 PublicationCorresponds to variant dbSNP:rs587777089EnsemblClinVar.1
    Natural variantiVAR_070989353Q → R in LMHD; does not affect protein levels; increases the rate of phosphatidylserine synthesis; profoundly impairs negative feedback enzyme regulation by phosphatidylserine. 1 PublicationCorresponds to variant dbSNP:rs587777088EnsemblClinVar.1
    Natural variantiVAR_048735423T → N. Corresponds to variant dbSNP:rs7835798Ensembl.1

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Alternative sequenceiVSP_0574211 – 203Missing in isoform 3. 1 PublicationAdd BLAST203
    Alternative sequenceiVSP_0559801 – 146Missing in isoform 2. 1 PublicationAdd BLAST146
    Alternative sequenceiVSP_057422449 – 473NNESH…GVGKK → EGTWGSLFEIVSLVSHRPGR VRQIIAWGAFANVGSLLTSA LDMRSPVAARCVEGKR in isoform 3. 1 PublicationAdd BLAST25

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    D14694 mRNA Translation: BAA03520.1
    AK293513 mRNA Translation: BAG56996.1
    AP003465 Genomic DNA No translation available.
    KC877275 Genomic DNA No translation available.
    BC004192 mRNA Translation: AAH04192.1
    BC002376 mRNA Translation: AAH02376.2
    BC004390 mRNA Translation: AAH04390.1
    CCDSiCCDS6271.1 [P48651-1]
    RefSeqiNP_001277154.1, NM_001290225.1 [P48651-2]
    NP_055569.1, NM_014754.2 [P48651-1]
    UniGeneiHs.292579

    Genome annotation databases

    EnsembliENST00000517309; ENSP00000430548; ENSG00000156471 [P48651-1]
    ENST00000522072; ENSP00000430928; ENSG00000156471 [P48651-3]
    GeneIDi9791
    KEGGihsa:9791
    UCSCiuc003yht.2 human [P48651-1]
    uc064ouh.1 human

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Similar proteinsi

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    D14694 mRNA Translation: BAA03520.1
    AK293513 mRNA Translation: BAG56996.1
    AP003465 Genomic DNA No translation available.
    KC877275 Genomic DNA No translation available.
    BC004192 mRNA Translation: AAH04192.1
    BC002376 mRNA Translation: AAH02376.2
    BC004390 mRNA Translation: AAH04390.1
    CCDSiCCDS6271.1 [P48651-1]
    RefSeqiNP_001277154.1, NM_001290225.1 [P48651-2]
    NP_055569.1, NM_014754.2 [P48651-1]
    UniGeneiHs.292579

    3D structure databases

    ProteinModelPortaliP48651
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi115135, 16 interactors
    IntActiP48651, 15 interactors
    MINTiP48651
    STRINGi9606.ENSP00000430548

    Chemistry databases

    DrugBankiDB00144 Phosphatidyl serine
    SwissLipidsiSLP:000001060

    PTM databases

    iPTMnetiP48651
    PhosphoSitePlusiP48651

    Polymorphism and mutation databases

    BioMutaiPTDSS1
    DMDMi1346881

    Proteomic databases

    EPDiP48651
    MaxQBiP48651
    PaxDbiP48651
    PeptideAtlasiP48651
    PRIDEiP48651
    ProteomicsDBi55920

    Protocols and materials databases

    DNASUi9791
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000517309; ENSP00000430548; ENSG00000156471 [P48651-1]
    ENST00000522072; ENSP00000430928; ENSG00000156471 [P48651-3]
    GeneIDi9791
    KEGGihsa:9791
    UCSCiuc003yht.2 human [P48651-1]
    uc064ouh.1 human

    Organism-specific databases

    CTDi9791
    DisGeNETi9791
    EuPathDBiHostDB:ENSG00000156471.12
    GeneCardsiPTDSS1
    HGNCiHGNC:9587 PTDSS1
    HPAiHPA016852
    MalaCardsiPTDSS1
    MIMi151050 phenotype
    612792 gene
    neXtProtiNX_P48651
    OpenTargetsiENSG00000156471
    Orphaneti2658 Lenz-Majewski hyperostotic dwarfism
    PharmGKBiPA33939
    HUGEiSearch...
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiKOG2735 Eukaryota
    ENOG410XS7H LUCA
    GeneTreeiENSGT00530000063576
    HOGENOMiHOG000069882
    HOVERGENiHBG053765
    InParanoidiP48651
    KOiK08729
    OMAiHPAIWRI
    OrthoDBiEOG091G075F
    PhylomeDBiP48651
    TreeFamiTF300012

    Enzyme and pathway databases

    UniPathwayi
    UPA00948

    BioCyciMetaCyc:HS08129-MONOMER
    ReactomeiR-HSA-1483101 Synthesis of PS

    Miscellaneous databases

    ChiTaRSiPTDSS1 human
    GenomeRNAii9791
    PROiPR:P48651
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000156471 Expressed in 235 organ(s), highest expression level in left ventricle myocardium
    CleanExiHS_PTDSS1
    ExpressionAtlasiP48651 baseline and differential
    GenevisibleiP48651 HS

    Family and domain databases

    InterProiView protein in InterPro
    IPR004277 PSS
    PfamiView protein in Pfam
    PF03034 PSS, 1 hit
    ProtoNetiSearch...

    Entry informationi

    Entry nameiPTSS1_HUMAN
    AccessioniPrimary (citable) accession number: P48651
    Secondary accession number(s): B4DE85, E5RFC5, Q9BUQ5
    Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
    Last sequence update: February 1, 1996
    Last modified: October 10, 2018
    This is version 147 of the entry and version 1 of the sequence. See complete history.
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 8
      Human chromosome 8: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. SIMILARITY comments
      Index of protein domains and families
    4. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    5. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    6. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    UniProt is an ELIXIR core data resource
    Main funding by: National Institutes of Health

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