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Q96S52

- PIGS_HUMAN

UniProt

Q96S52 - PIGS_HUMAN

Protein

GPI transamidase component PIG-S

Gene

PIGS

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 98 (01 Oct 2014)
      Sequence version 3 (23 Jan 2007)
      Previous versions | rss
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    Functioni

    Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for formation of carbonyl intermediates.1 Publication

    Pathwayi

    GO - Molecular functioni

    1. GPI-anchor transamidase activity Source: Ensembl
    2. protein binding Source: UniProtKB

    GO - Biological processi

    1. attachment of GPI anchor to protein Source: UniProtKB
    2. cellular protein metabolic process Source: Reactome
    3. C-terminal protein lipidation Source: Reactome
    4. post-translational protein modification Source: Reactome

    Keywords - Biological processi

    GPI-anchor biosynthesis

    Enzyme and pathway databases

    ReactomeiREACT_1830. Attachment of GPI anchor to uPAR.
    UniPathwayiUPA00196.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    GPI transamidase component PIG-S
    Alternative name(s):
    Phosphatidylinositol-glycan biosynthesis class S protein
    Gene namesi
    Name:PIGS
    ORF Names:UNQ1873/PRO4316
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:14937. PIGS.

    Subcellular locationi

    Endoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. endoplasmic reticulum membrane Source: Reactome
    2. GPI-anchor transamidase complex Source: UniProtKB
    3. membrane Source: UniProtKB

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA33301.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 555554GPI transamidase component PIG-SPRO_0000218604Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi267 – 2671N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi370 – 3701N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ96S52.
    PaxDbiQ96S52.
    PeptideAtlasiQ96S52.
    PRIDEiQ96S52.

    PTM databases

    PhosphoSiteiQ96S52.

    Expressioni

    Gene expression databases

    ArrayExpressiQ96S52.
    BgeeiQ96S52.
    CleanExiHS_PIGS.
    GenevestigatoriQ96S52.

    Organism-specific databases

    HPAiHPA018149.

    Interactioni

    Subunit structurei

    Forms a complex with PIGK/GPI8, PIGT, PIGU and GAA1.1 Publication

    Protein-protein interaction databases

    BioGridi125082. 11 interactions.
    IntActiQ96S52. 1 interaction.
    MINTiMINT-4537363.
    STRINGi9606.ENSP00000309430.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96S52.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini2 – 1817CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini40 – 520481LumenalSequence AnalysisAdd
    BLAST
    Topological domaini542 – 55514CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei19 – 3921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei521 – 54121HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the PIGS family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG319204.
    HOGENOMiHOG000067980.
    HOVERGENiHBG031822.
    InParanoidiQ96S52.
    KOiK05291.
    OMAiSYIGPER.
    OrthoDBiEOG741Z1V.
    PhylomeDBiQ96S52.
    TreeFamiTF105857.

    Family and domain databases

    InterProiIPR019540. PtdIno-glycan_biosynth_class_S.
    [Graphical view]
    PANTHERiPTHR21072. PTHR21072. 1 hit.
    PfamiPF10510. PIG-S. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

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

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96S52-1) [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

    MAAAGAAATH LEVARGKRAA LFFAAVAIVL GLPLWWKTTE TYRASLPYSQ    50
    ISGLNALQLR LMVPVTVVFT RESVPLDDQE KLPFTVVHER EIPLKYKMKI 100
    KCRFQKAYRR ALDHEEEALS SGSVQEAEAM LDEPQEQAEG SLTVYVISEH 150
    SSLLPQDMMS YIGPKRTAVV RGIMHREAFN IIGRRIVQVA QAMSLTEDVL 200
    AAALADHLPE DKWSAEKRRP LKSSLGYEIT FSLLNPDPKS HDVYWDIEGA 250
    VRRYVQPFLN ALGAAGNFSV DSQILYYAML GVNPRFDSAS SSYYLDMHSL 300
    PHVINPVESR LGSSAASLYP VLNFLLYVPE LAHSPLYIQD KDGAPVATNA 350
    FHSPRWGGIM VYNVDSKTYN ASVLPVRVEV DMVRVMEVFL AQLRLLFGIA 400
    QPQLPPKCLL SGPTSEGLMT WELDRLLWAR SVENLATATT TLTSLAQLLG 450
    KISNIVIKDD VASEVYKAVA AVQKSAEELA SGHLASAFVA SQEAVTSSEL 500
    AFFDPSLLHL LYFPDDQKFA IYIPLFLPMA VPILLSLVKI FLETRKSWRK 550
    PEKTD 555
    Length:555
    Mass (Da):61,656
    Last modified:January 23, 2007 - v3
    Checksum:iA20B323C5475EF4F
    GO
    Isoform 2 (identifier: Q96S52-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-11: MAAAGAAATHL → MPS

    Note: No experimental confirmation available.

    Show »
    Length:547
    Mass (Da):61,005
    Checksum:iFE15DAA8222209B8
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti159 – 1591M → I in a breast cancer sample; somatic mutation. 1 Publication
    VAR_036510
    Natural varianti253 – 2531R → H.
    Corresponds to variant rs34669811 [ dbSNP | Ensembl ].
    VAR_053582

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 1111MAAAGAAATHL → MPS in isoform 2. 1 PublicationVSP_013158Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB057723 mRNA. Translation: BAB60853.1.
    AY359112 mRNA. Translation: AAQ89470.1.
    BC069228 mRNA. Translation: AAH69228.1.
    CCDSiCCDS11235.1. [Q96S52-1]
    RefSeqiNP_149975.1. NM_033198.3. [Q96S52-1]
    UniGeneiHs.462550.

    Genome annotation databases

    EnsembliENST00000308360; ENSP00000309430; ENSG00000087111. [Q96S52-1]
    ENST00000395346; ENSP00000378755; ENSG00000087111. [Q96S52-2]
    GeneIDi94005.
    KEGGihsa:94005.
    UCSCiuc002hbn.2. human. [Q96S52-2]
    uc002hbo.2. human. [Q96S52-1]

    Polymorphism databases

    DMDMi21759353.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB057723 mRNA. Translation: BAB60853.1 .
    AY359112 mRNA. Translation: AAQ89470.1 .
    BC069228 mRNA. Translation: AAH69228.1 .
    CCDSi CCDS11235.1. [Q96S52-1 ]
    RefSeqi NP_149975.1. NM_033198.3. [Q96S52-1 ]
    UniGenei Hs.462550.

    3D structure databases

    ProteinModelPortali Q96S52.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 125082. 11 interactions.
    IntActi Q96S52. 1 interaction.
    MINTi MINT-4537363.
    STRINGi 9606.ENSP00000309430.

    PTM databases

    PhosphoSitei Q96S52.

    Polymorphism databases

    DMDMi 21759353.

    Proteomic databases

    MaxQBi Q96S52.
    PaxDbi Q96S52.
    PeptideAtlasi Q96S52.
    PRIDEi Q96S52.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000308360 ; ENSP00000309430 ; ENSG00000087111 . [Q96S52-1 ]
    ENST00000395346 ; ENSP00000378755 ; ENSG00000087111 . [Q96S52-2 ]
    GeneIDi 94005.
    KEGGi hsa:94005.
    UCSCi uc002hbn.2. human. [Q96S52-2 ]
    uc002hbo.2. human. [Q96S52-1 ]

    Organism-specific databases

    CTDi 94005.
    GeneCardsi GC17M026880.
    HGNCi HGNC:14937. PIGS.
    HPAi HPA018149.
    MIMi 610271. gene.
    neXtProti NX_Q96S52.
    PharmGKBi PA33301.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG319204.
    HOGENOMi HOG000067980.
    HOVERGENi HBG031822.
    InParanoidi Q96S52.
    KOi K05291.
    OMAi SYIGPER.
    OrthoDBi EOG741Z1V.
    PhylomeDBi Q96S52.
    TreeFami TF105857.

    Enzyme and pathway databases

    UniPathwayi UPA00196 .
    Reactomei REACT_1830. Attachment of GPI anchor to uPAR.

    Miscellaneous databases

    GeneWikii PIGS_(gene).
    GenomeRNAii 94005.
    NextBioi 78284.
    PROi Q96S52.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96S52.
    Bgeei Q96S52.
    CleanExi HS_PIGS.
    Genevestigatori Q96S52.

    Family and domain databases

    InterProi IPR019540. PtdIno-glycan_biosynth_class_S.
    [Graphical view ]
    PANTHERi PTHR21072. PTHR21072. 1 hit.
    Pfami PF10510. PIG-S. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "PIG-S and PIG-T, essential for GPI anchor attachment to proteins, form a complex with GAA1 and GPI8."
      Ohishi K., Inoue N., Kinoshita T.
      EMBO J. 20:4088-4098(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PROTEIN SEQUENCE OF 2-21, FUNCTION, SUBUNIT, SUBCELLULAR LOCATION, MEMBRANE TOPOLOGY.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Lung.
    4. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    5. Cited for: VARIANT [LARGE SCALE ANALYSIS] ILE-159.

    Entry informationi

    Entry nameiPIGS_HUMAN
    AccessioniPrimary (citable) accession number: Q96S52
    Secondary accession number(s): Q6UVX6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 11, 2002
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 98 of the entry and version 3 of the sequence. [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, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: 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. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3