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Q9BRB3

- PIGQ_HUMAN

UniProt

Q9BRB3 - PIGQ_HUMAN

Protein

Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q

Gene

PIGQ

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 116 (01 Oct 2014)
      Sequence version 3 (23 Jan 2007)
      Previous versions | rss
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    Functioni

    Part of the complex catalyzing the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis.

    Catalytic activityi

    UDP-N-acetyl-D-glucosamine + 1-phosphatidyl-1D-myo-inositol = UDP + 6-(N-acetyl-alpha-D-glucosaminyl)-1-phosphatidyl-1D-myo-inositol.

    Pathwayi

    GO - Molecular functioni

    1. phosphatidylinositol N-acetylglucosaminyltransferase activity Source: UniProtKB-EC

    GO - Biological processi

    1. carbohydrate metabolic process Source: ProtInc
    2. cellular protein metabolic process Source: Reactome
    3. C-terminal protein lipidation Source: Reactome
    4. post-translational protein modification Source: Reactome
    5. preassembly of GPI anchor in ER membrane Source: Reactome

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    Keywords - Biological processi

    GPI-anchor biosynthesis

    Enzyme and pathway databases

    BRENDAi2.4.1.198. 2681.
    ReactomeiREACT_952. Synthesis of glycosylphosphatidylinositol (GPI).
    UniPathwayiUPA00196.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q (EC:2.4.1.198)
    Alternative name(s):
    N-acetylglucosamyl transferase component GPI1
    Phosphatidylinositol-glycan biosynthesis class Q protein
    Short name:
    PIG-Q
    Gene namesi
    Name:PIGQ
    Synonyms:GPI1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:14135. PIGQ.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum membrane Source: Reactome
    2. glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex Source: Ensembl
    3. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA33299.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 760759Phosphatidylinositol N-acetylglucosaminyltransferase subunit QPRO_0000215664Add
    BLAST

    Proteomic databases

    MaxQBiQ9BRB3.
    PaxDbiQ9BRB3.
    PRIDEiQ9BRB3.

    PTM databases

    PhosphoSiteiQ9BRB3.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9BRB3.
    BgeeiQ9BRB3.
    CleanExiHS_PIGQ.
    GenevestigatoriQ9BRB3.

    Organism-specific databases

    HPAiHPA039105.
    HPA039828.

    Interactioni

    Subunit structurei

    Associates with PIGA, PIGC, PIGH, PIGP and DPM2. The latter is not essential for activity.

    Protein-protein interaction databases

    BioGridi114545. 6 interactions.
    IntActiQ9BRB3. 3 interactions.
    MINTiMINT-1182611.
    STRINGi9606.ENSP00000026218.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BRB3.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei278 – 29821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei349 – 37123HelicalSequence AnalysisAdd
    BLAST
    Transmembranei378 – 40023HelicalSequence AnalysisAdd
    BLAST
    Transmembranei446 – 46823HelicalSequence AnalysisAdd
    BLAST
    Transmembranei475 – 49723HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi214 – 536323Leu-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the PIGQ family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG242183.
    HOVERGENiHBG036559.
    InParanoidiQ9BRB3.
    KOiK03860.
    OrthoDBiEOG7K6PTR.
    PhylomeDBiQ9BRB3.
    TreeFamiTF321258.

    Family and domain databases

    InterProiIPR007720. GlcNAc_Gpi1.
    [Graphical view]
    PfamiPF05024. Gpi1. 1 hit.
    [Graphical view]

    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. Align

    Isoform 1 (identifier: Q9BRB3-1) [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

    MVLKAFFPTC CVSTDSGLLV GRWVPEQSSA VVLAVLHFPF IPIQVKQLLA    50
    QVRQASQVGV AVLGTWCHCR QEPEESLGRF LESLGAVFPH EPWLRLCRER 100
    GGTFWSCEAT HRQAPTAPGA PGEDQVMLIF YDQRQVLLSQ LHLPTVLPDR 150
    QAGATTASTG GLAAVFDTVA RSEVLFRSDR FDEGPVRLSH WQSEGVEASI 200
    LAELARRASG PICLLLASLL SLVSAVSACR VFKLWPLSFL GSKLSTCEQL 250
    RHRLEHLTLI FSTRKAENPA QLMRKANTVA SVLLDVALGL MLLSWLHGRS 300
    RIGHLADALV PVADHVAEEL QHLLQWLMGA PAGLKMNRAL DQVLGRFFLY 350
    HIHLWISYIH LMSPFVEHIL WHVGLSACLG LTVALSLLSD IIALLTFHIY 400
    CFYVYGARLY CLKIHGLSSL WRLFRGKKWN VLRQRVDSCS YDLDQLFIGT 450
    LLFTILLFLL PTTALYYLVF TLLRLLVVAV QGLIHLLVDL INSLPLYSLG 500
    LRLCRPYRLA DKPTALQPRG AHLPPPQLWL PPQALLGRPV PQAVPWGAHL 550
    PLEAERGQAG LRELLARLAP PHGHSQPSAL PGWHQLSWRM SCALWTLLCA 600
    PEHGRPCYHT LGLEVIGSEQ MWGWPARLAA LHHWHCLPWD PLPTCCGHHG 650
    GEHSNPRCPE HCPMPTLCTQ VQRVRPPQQP QVEGWSPWGL PSGSALAVGV 700
    EGPCQDEPPS PRHPLAPSAE QHPASGGLKQ SLTPVPSGPG PSLPEPHGVY 750
    LRMFPGEVAL 760

    Note: No experimental confirmation available.

    Length:760
    Mass (Da):84,082
    Last modified:January 23, 2007 - v3
    Checksum:iDBF900ADCE08DA98
    GO
    Isoform 2 (identifier: Q9BRB3-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         511-581: DKPTALQPRG...HGHSQPSALP → AGVKFRVLRH...PWRQRGDKQD
         582-760: Missing.

    Show »
    Length:581
    Mass (Da):65,344
    Checksum:iA5C055C7C144661D
    GO
    Isoform 3 (identifier: Q9BRB3-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         275-299: KANTVASVLLDVALGLMLLSWLHGR → CGPALVSAGLGACPLAPSPSPSAPR
         300-760: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:299
    Mass (Da):32,471
    Checksum:i260AA154769F6F41
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti14 – 141T → A.2 Publications
    Corresponds to variant rs2071979 [ dbSNP | Ensembl ].
    VAR_015596
    Natural varianti592 – 5921C → R.
    Corresponds to variant rs1045277 [ dbSNP | Ensembl ].
    VAR_053579
    Natural varianti668 – 6681C → R.
    Corresponds to variant rs710924 [ dbSNP | Ensembl ].
    VAR_053580
    Natural varianti668 – 6681C → Y.
    Corresponds to variant rs710925 [ dbSNP | Ensembl ].
    VAR_053581

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei275 – 29925KANTV…WLHGR → CGPALVSAGLGACPLAPSPS PSAPR in isoform 3. 1 PublicationVSP_007279Add
    BLAST
    Alternative sequencei300 – 760461Missing in isoform 3. 1 PublicationVSP_007280Add
    BLAST
    Alternative sequencei511 – 58171DKPTA…PSALP → AGVKFRVLRHEAGRPLRLLM QINPLPYSRVVHTYRLPSCG CHPKHSWGALCRKLFLGELI YPWRQRGDKQD in isoform 2. 2 PublicationsVSP_007281Add
    BLAST
    Alternative sequencei582 – 760179Missing in isoform 2. 2 PublicationsVSP_007282Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF030177 mRNA. Translation: AAC32661.1.
    AB003723 mRNA. Translation: BAA24948.1.
    AE006464 Genomic DNA. Translation: AAK61235.1.
    Z98883 Genomic DNA. Translation: CAB56148.2.
    Z98883 Genomic DNA. Translation: CAM26442.1.
    CH471112 Genomic DNA. Translation: EAW85796.1.
    CH471112 Genomic DNA. Translation: EAW85797.1.
    CH471112 Genomic DNA. Translation: EAW85799.1.
    BC006377 mRNA. Translation: AAH06377.1.
    BC010094 mRNA. No translation available.
    CCDSiCCDS10411.1. [Q9BRB3-1]
    CCDS10412.1. [Q9BRB3-2]
    RefSeqiNP_004195.2. NM_004204.3. [Q9BRB3-2]
    NP_683721.1. NM_148920.2. [Q9BRB3-1]
    UniGeneiHs.741878.
    Hs.744949.

    Genome annotation databases

    EnsembliENST00000026218; ENSP00000026218; ENSG00000007541. [Q9BRB3-1]
    ENST00000321878; ENSP00000326674; ENSG00000007541. [Q9BRB3-2]
    ENST00000409527; ENSP00000386760; ENSG00000007541. [Q9BRB3-2]
    ENST00000470411; ENSP00000439650; ENSG00000007541. [Q9BRB3-3]
    GeneIDi9091.
    KEGGihsa:9091.
    UCSCiuc002chm.3. human. [Q9BRB3-3]
    uc002chn.3. human. [Q9BRB3-2]
    uc002cho.3. human. [Q9BRB3-1]

    Polymorphism databases

    DMDMi30173119.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF030177 mRNA. Translation: AAC32661.1 .
    AB003723 mRNA. Translation: BAA24948.1 .
    AE006464 Genomic DNA. Translation: AAK61235.1 .
    Z98883 Genomic DNA. Translation: CAB56148.2 .
    Z98883 Genomic DNA. Translation: CAM26442.1 .
    CH471112 Genomic DNA. Translation: EAW85796.1 .
    CH471112 Genomic DNA. Translation: EAW85797.1 .
    CH471112 Genomic DNA. Translation: EAW85799.1 .
    BC006377 mRNA. Translation: AAH06377.1 .
    BC010094 mRNA. No translation available.
    CCDSi CCDS10411.1. [Q9BRB3-1 ]
    CCDS10412.1. [Q9BRB3-2 ]
    RefSeqi NP_004195.2. NM_004204.3. [Q9BRB3-2 ]
    NP_683721.1. NM_148920.2. [Q9BRB3-1 ]
    UniGenei Hs.741878.
    Hs.744949.

    3D structure databases

    ProteinModelPortali Q9BRB3.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114545. 6 interactions.
    IntActi Q9BRB3. 3 interactions.
    MINTi MINT-1182611.
    STRINGi 9606.ENSP00000026218.

    PTM databases

    PhosphoSitei Q9BRB3.

    Polymorphism databases

    DMDMi 30173119.

    Proteomic databases

    MaxQBi Q9BRB3.
    PaxDbi Q9BRB3.
    PRIDEi Q9BRB3.

    Protocols and materials databases

    DNASUi 9091.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000026218 ; ENSP00000026218 ; ENSG00000007541 . [Q9BRB3-1 ]
    ENST00000321878 ; ENSP00000326674 ; ENSG00000007541 . [Q9BRB3-2 ]
    ENST00000409527 ; ENSP00000386760 ; ENSG00000007541 . [Q9BRB3-2 ]
    ENST00000470411 ; ENSP00000439650 ; ENSG00000007541 . [Q9BRB3-3 ]
    GeneIDi 9091.
    KEGGi hsa:9091.
    UCSCi uc002chm.3. human. [Q9BRB3-3 ]
    uc002chn.3. human. [Q9BRB3-2 ]
    uc002cho.3. human. [Q9BRB3-1 ]

    Organism-specific databases

    CTDi 9091.
    GeneCardsi GC16P000616.
    HGNCi HGNC:14135. PIGQ.
    HPAi HPA039105.
    HPA039828.
    MIMi 605754. gene.
    neXtProti NX_Q9BRB3.
    PharmGKBi PA33299.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG242183.
    HOVERGENi HBG036559.
    InParanoidi Q9BRB3.
    KOi K03860.
    OrthoDBi EOG7K6PTR.
    PhylomeDBi Q9BRB3.
    TreeFami TF321258.

    Enzyme and pathway databases

    UniPathwayi UPA00196 .
    BRENDAi 2.4.1.198. 2681.
    Reactomei REACT_952. Synthesis of glycosylphosphatidylinositol (GPI).

    Miscellaneous databases

    ChiTaRSi PIGQ. human.
    GeneWikii PIGQ.
    GenomeRNAii 9091.
    NextBioi 34061.
    PROi Q9BRB3.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9BRB3.
    Bgeei Q9BRB3.
    CleanExi HS_PIGQ.
    Genevestigatori Q9BRB3.

    Family and domain databases

    InterProi IPR007720. GlcNAc_Gpi1.
    [Graphical view ]
    Pfami PF05024. Gpi1. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Human and mouse Gpi1p homologues restore glycosylphosphatidylinositol membrane anchor biosynthesis in yeast mutants."
      Tiede A., Schubert J., Nischan C., Jensen I., Westfall B., Taron C.H., Orlean P., Schmidt R.E.
      Biochem. J. 334:609-616(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    2. "The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1."
      Watanabe R., Inoue N., Westfall B., Taron C.H., Orlean P., Takeda J., Kinoshita T.
      EMBO J. 17:877-885(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    3. "Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16."
      Daniels R.J., Peden J.F., Lloyd C., Horsley S.W., Clark K., Tufarelli C., Kearney L., Buckle V.J., Doggett N.A., Flint J., Higgs D.R.
      Hum. Mol. Genet. 10:339-352(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ALA-14.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The sequence and analysis of duplication-rich human chromosome 16."
      Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
      , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
      Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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] (ISOFORMS 1 AND 3), VARIANT ALA-14.
      Tissue: Melanoma and Retinoblastoma.
    7. "Initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-P and is regulated by DPM2."
      Watanabe R., Murakami Y., Marmor M.D., Inoue N., Maeda Y., Hino J., Kangawa K., Julius M., Kinoshita T.
      EMBO J. 19:4402-4411(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 2-6.

    Entry informationi

    Entry nameiPIGQ_HUMAN
    AccessioniPrimary (citable) accession number: Q9BRB3
    Secondary accession number(s): A2IDE1
    , D3DU52, O14927, Q96G00, Q96S22, Q9UJH4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 23, 2003
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 116 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 16
      Human chromosome 16: 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