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Entry version 152 (08 May 2019)
Sequence version 1 (01 Feb 1996)
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Protein

Phosphatidylserine synthase 1

Gene

PTDSS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Requires calcium ions. Activated by exogenous phosphatidylethanolamine.2 Publications

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>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

    <p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>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.

    <p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

    GO - Biological processi

    <p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

    Enzyme and pathway databases

    BioCyc Collection of Pathway/Genome Databases

    More...
    BioCyci
    MetaCyc:HS08129-MONOMER

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-1483101 Synthesis of PS

    UniPathway: a resource for the exploration and annotation of metabolic pathways

    More...
    UniPathwayi
    UPA00948

    Chemistry databases

    SwissLipids knowledge resource for lipid biology

    More...
    SwissLipidsi
    SLP:000001060

    <p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
    Name:PTDSS1
    Synonyms:KIAA0024, PSSA
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
    • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 8

    Organism-specific databases

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:9587 PTDSS1

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    612792 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_P48651

    <p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

    Topology

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini2 – 35CytoplasmicSequence analysisAdd BLAST34
    <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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

    <p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

    <p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
    Related information in OMIM
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

    DisGeNET

    More...
    DisGeNETi
    9791

    MalaCards human disease database

    More...
    MalaCardsi
    PTDSS1
    MIMi151050 phenotype

    Open Targets

    More...
    OpenTargetsi
    ENSG00000156471

    Orphanet; a database dedicated to information on rare diseases and orphan drugs

    More...
    Orphaneti
    2658 Lenz-Majewski hyperostotic dwarfism

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA33939

    Chemistry databases

    Drug and drug target database

    More...
    DrugBanki
    DB00144 Phosphatidyl serine

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    PTDSS1

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    1346881

    <p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
    <p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000568292 – 473Phosphatidylserine synthase 1Add BLAST472

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1
    Modified residuei417PhosphoserineCombined sources1
    Modified residuei425PhosphoserineCombined sources1
    Modified residuei442PhosphoserineCombined sources1
    Modified residuei454PhosphoserineCombined sources1

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...
    EPDi
    P48651

    jPOST - Japan Proteome Standard Repository/Database

    More...
    jPOSTi
    P48651

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    P48651

    PaxDb, a database of protein abundance averages across all three domains of life

    More...
    PaxDbi
    P48651

    PeptideAtlas

    More...
    PeptideAtlasi
    P48651

    PRoteomics IDEntifications database

    More...
    PRIDEi
    P48651

    ProteomicsDB human proteome resource

    More...
    ProteomicsDBi
    55920

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    P48651

    Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

    More...
    PhosphoSitePlusi
    P48651

    SwissPalm database of S-palmitoylation events

    More...
    SwissPalmi
    P48651

    <p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000156471 Expressed in 235 organ(s), highest expression level in left ventricle myocardium

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    P48651 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    P48651 HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    HPA016852

    <p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGrid)

    More...
    BioGridi
    115135, 22 interactors

    Protein interaction database and analysis system

    More...
    IntActi
    P48651, 18 interactors

    Molecular INTeraction database

    More...
    MINTi
    P48651

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000430548

    <p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

    <p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    KOG2735 Eukaryota
    ENOG410XS7H LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00530000063576

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    HOG000069882

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    P48651

    KEGG Orthology (KO)

    More...
    KOi
    K08729

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    EFFYRPH

    Database of Orthologous Groups

    More...
    OrthoDBi
    749511at2759

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    P48651

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF300012

    Family and domain databases

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR004277 PSS

    Pfam protein domain database

    More...
    Pfami
    View protein in Pfam
    PF03034 PSS, 1 hit

    <p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

    <p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

    <p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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
    <p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

    <p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

    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
    <p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

    EMBL nucleotide sequence database

    More...
    EMBLi

    GenBank nucleotide sequence database

    More...
    GenBanki

    DNA Data Bank of Japan; a nucleotide sequence database

    More...
    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

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS6271.1 [P48651-1]

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_001277154.1, NM_001290225.1 [P48651-2]
    NP_055569.1, NM_014754.2 [P48651-1]

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000517309; ENSP00000430548; ENSG00000156471 [P48651-1]
    ENST00000522072; ENSP00000430928; ENSG00000156471 [P48651-3]

    Database of genes from NCBI RefSeq genomes

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    GeneIDi
    9791

    KEGG: Kyoto Encyclopedia of Genes and Genomes

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    KEGGi
    hsa:9791

    UCSC genome browser

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    UCSCi
    uc003yht.2 human [P48651-1]
    uc064ouh.1 human

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    <p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

    <p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

    3D structure databases

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...
    MobiDBi
    Search...

    SWISS-MODEL Interactive Workspace

    More...
    SWISS-MODEL-Workspacei
    Submit a new modelling project...

    Protein-protein interaction databases

    BioGridi115135, 22 interactors
    IntActiP48651, 18 interactors
    MINTiP48651
    STRINGi9606.ENSP00000430548

    Chemistry databases

    DrugBankiDB00144 Phosphatidyl serine
    SwissLipidsiSLP:000001060

    PTM databases

    iPTMnetiP48651
    PhosphoSitePlusiP48651
    SwissPalmiP48651

    Polymorphism and mutation databases

    BioMutaiPTDSS1
    DMDMi1346881

    Proteomic databases

    EPDiP48651
    jPOSTiP48651
    MaxQBiP48651
    PaxDbiP48651
    PeptideAtlasiP48651
    PRIDEiP48651
    ProteomicsDBi55920

    Protocols and materials databases

    The DNASU plasmid repository

    More...
    DNASUi
    9791
    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

    Comparative Toxicogenomics Database

    More...
    CTDi
    9791
    DisGeNETi9791

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    PTDSS1
    HGNCiHGNC:9587 PTDSS1
    HPAiHPA016852
    MalaCardsiPTDSS1
    MIMi151050 phenotype
    612792 gene
    neXtProtiNX_P48651
    OpenTargetsiENSG00000156471
    Orphaneti2658 Lenz-Majewski hyperostotic dwarfism
    PharmGKBiPA33939

    Human Unidentified Gene-Encoded large proteins database

    More...
    HUGEi
    Search...

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG2735 Eukaryota
    ENOG410XS7H LUCA
    GeneTreeiENSGT00530000063576
    HOGENOMiHOG000069882
    InParanoidiP48651
    KOiK08729
    OMAiEFFYRPH
    OrthoDBi749511at2759
    PhylomeDBiP48651
    TreeFamiTF300012

    Enzyme and pathway databases

    UniPathwayiUPA00948
    BioCyciMetaCyc:HS08129-MONOMER
    ReactomeiR-HSA-1483101 Synthesis of PS

    Miscellaneous databases

    ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

    More...
    ChiTaRSi
    PTDSS1 human

    Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

    More...
    GenomeRNAii
    9791

    Protein Ontology

    More...
    PROi
    PR:P48651

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

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

    Family and domain databases

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

    ProtoNet; Automatic hierarchical classification of proteins

    More...
    ProtoNeti
    Search...

    <p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

    <p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPTSS1_HUMAN
    <p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P48651
    Secondary accession number(s): B4DE85, E5RFC5, Q9BUQ5
    <p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
    Last sequence update: February 1, 1996
    Last modified: May 8, 2019
    This is version 152 of the entry and version 1 of the sequence. See complete history.
    <p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

    <p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. SIMILARITY comments
      Index of protein domains and families
    2. Human chromosome 8
      Human chromosome 8: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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