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O43292

- GPAA1_HUMAN

UniProt

O43292 - GPAA1_HUMAN

Protein

Glycosylphosphatidylinositol anchor attachment 1 protein

Gene

GPAA1

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

    Essential for GPI-anchoring of precursor proteins but not for GPI synthesis. Acts before or during formation of the carbonyl intermediate.1 Publication

    Pathwayi

    GO - Molecular functioni

    1. protein binding Source: UniProtKB
    2. tubulin 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
    5. protein complex assembly Source: UniProtKB
    6. protein retention in ER lumen Source: UniProtKB

    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:
    Glycosylphosphatidylinositol anchor attachment 1 protein
    Short name:
    GPI anchor attachment protein 1
    Alternative name(s):
    GAA1 protein homolog
    Short name:
    hGAA1
    Gene namesi
    Name:GPAA1
    Synonyms:GAA1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:4446. GPAA1.

    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

    PharmGKBiPA28827.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 621620Glycosylphosphatidylinositol anchor attachment 1 proteinPRO_0000087554Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi203 – 2031N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi517 – 5171N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiO43292.
    PaxDbiO43292.
    PRIDEiO43292.

    PTM databases

    PhosphoSiteiO43292.

    Expressioni

    Tissue specificityi

    Ubiquitously expressed in fetal and adult tissues. Expressed at higher levels in fetal tissues than adult tissues.1 Publication

    Gene expression databases

    ArrayExpressiO43292.
    BgeeiO43292.
    CleanExiHS_GPAA1.
    GenevestigatoriO43292.

    Interactioni

    Subunit structurei

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

    Protein-protein interaction databases

    BioGridi114271. 8 interactions.
    IntActiO43292. 5 interactions.
    MINTiMINT-1385413.
    STRINGi9606.ENSP00000347206.

    Structurei

    3D structure databases

    ProteinModelPortaliO43292.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini2 – 2423CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini46 – 368323LumenalSequence AnalysisAdd
    BLAST
    Topological domaini390 – 42738CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini449 – 45810LumenalSequence Analysis
    Topological domaini480 – 49516CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini517 – 54327LumenalSequence AnalysisAdd
    BLAST
    Topological domaini565 – 59935CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini621 – 6211LumenalSequence Analysis

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei25 – 4521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei369 – 38921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei428 – 44821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei459 – 47921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei496 – 51621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei544 – 56421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei600 – 62021HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG273269.
    HOGENOMiHOG000045628.
    HOVERGENiHBG051793.
    InParanoidiO43292.
    KOiK05289.
    OMAiLHQSYFF.
    PhylomeDBiO43292.
    TreeFamiTF313030.

    Family and domain databases

    InterProiIPR007246. Gaa1.
    IPR017063. GPI_prot_transamidse_cplx_GAA1.
    [Graphical view]
    PANTHERiPTHR13304. PTHR13304. 1 hit.
    PfamiPF04114. Gaa1. 1 hit.
    [Graphical view]
    PIRSFiPIRSF036762. GAA1. 1 hit.

    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: O43292-1) [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

    MGLLSDPVRR RALARLVLRL NAPLCVLSYV AGIAWFLALV FPPLTQRTYM    50
    SENAMGSTMV EEQFAGGDRA RAFARDFAAH RKKSGALPVA WLERTMRSVG 100
    LEVYTQSFSR KLPFPDETHE RYMVSGTNVY GILRAPRAAS TESLVLTVPC 150
    GSDSTNSQAV GLLLALAAHF RGQIYWAKDI VFLVTEHDLL GTEAWLEAYH 200
    DVNVTGMQSS PLQGRAGAIQ AAVALELSSD VVTSLDVAVE GLNGQLPNLD 250
    LLNLFQTFCQ KGGLLCTLQG KLQPEDWTSL DGPLQGLQTL LLMVLRQASG 300
    RPHGSHGLFL RYRVEALTLR GINSFRQYKY DLVAVGKALE GMFRKLNHLL 350
    ERLHQSFFLY LLPGLSRFVS IGLYMPAVGF LLLVLGLKAL ELWMQLHEAG 400
    MGLEEPGGAP GPSVPLPPSQ GVGLASLVAP LLISQAMGLA LYVLPVLGQH 450
    VATQHFPVAE AEAVVLTLLA IYAAGLALPH NTHRVVSTQA PDRGWMALKL 500
    VALIYLALQL GCIALTNFSL GFLLATTMVP TAALAKPHGP RTLYAALLVL 550
    TSPAATLLGS LFLWRELQEA PLSLAEGWQL FLAALAQGVL EHHTYGALLF 600
    PLLSLGLYPC WLLFWNVLFW K 621
    Length:621
    Mass (Da):67,623
    Last modified:January 23, 2007 - v3
    Checksum:iA70AC8758A919A98
    GO
    Isoform 2 (identifier: O43292-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         25-85: CVLSYVAGIAWFLALVFPPLTQRTYMSENAMGSTMVEEQFAGGDRARAFARDFAAHRKKSG → W

    Show »
    Length:561
    Mass (Da):61,098
    Checksum:i8D17F7CCE04FFA67
    GO

    Sequence cautioni

    The sequence CAB75660.2 differs from that shown. Reason: Erroneous gene model prediction. Erroneous prediction from an unspliced cDNA.

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei25 – 8561CVLSY…RKKSG → W in isoform 2. 1 PublicationVSP_009542Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB006969 mRNA. Translation: BAA24035.1.
    AB002135 mRNA. Translation: BAA82588.1.
    AB002137 Genomic DNA. Translation: BAA82590.1.
    AB017267 Genomic DNA. Translation: BAA82587.1.
    AL157437 mRNA. Translation: CAB75660.2. Sequence problems.
    BC003171 mRNA. Translation: AAH03171.1.
    BC004129 mRNA. Translation: AAH04129.1.
    BC006383 mRNA. Translation: AAH06383.2.
    CCDSiCCDS43776.1. [O43292-1]
    PIRiT46923.
    RefSeqiNP_003792.1. NM_003801.3. [O43292-1]
    UniGeneiHs.627962.

    Genome annotation databases

    EnsembliENST00000355091; ENSP00000347206; ENSG00000197858. [O43292-1]
    ENST00000361036; ENSP00000354316; ENSG00000197858. [O43292-2]
    GeneIDi8733.
    KEGGihsa:8733.
    UCSCiuc003zaw.1. human. [O43292-2]
    uc003zax.3. human. [O43292-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB006969 mRNA. Translation: BAA24035.1 .
    AB002135 mRNA. Translation: BAA82588.1 .
    AB002137 Genomic DNA. Translation: BAA82590.1 .
    AB017267 Genomic DNA. Translation: BAA82587.1 .
    AL157437 mRNA. Translation: CAB75660.2 . Sequence problems.
    BC003171 mRNA. Translation: AAH03171.1 .
    BC004129 mRNA. Translation: AAH04129.1 .
    BC006383 mRNA. Translation: AAH06383.2 .
    CCDSi CCDS43776.1. [O43292-1 ]
    PIRi T46923.
    RefSeqi NP_003792.1. NM_003801.3. [O43292-1 ]
    UniGenei Hs.627962.

    3D structure databases

    ProteinModelPortali O43292.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114271. 8 interactions.
    IntActi O43292. 5 interactions.
    MINTi MINT-1385413.
    STRINGi 9606.ENSP00000347206.

    PTM databases

    PhosphoSitei O43292.

    Proteomic databases

    MaxQBi O43292.
    PaxDbi O43292.
    PRIDEi O43292.

    Protocols and materials databases

    DNASUi 8733.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000355091 ; ENSP00000347206 ; ENSG00000197858 . [O43292-1 ]
    ENST00000361036 ; ENSP00000354316 ; ENSG00000197858 . [O43292-2 ]
    GeneIDi 8733.
    KEGGi hsa:8733.
    UCSCi uc003zaw.1. human. [O43292-2 ]
    uc003zax.3. human. [O43292-1 ]

    Organism-specific databases

    CTDi 8733.
    GeneCardsi GC08P145137.
    HGNCi HGNC:4446. GPAA1.
    MIMi 603048. gene.
    neXtProti NX_O43292.
    PharmGKBi PA28827.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG273269.
    HOGENOMi HOG000045628.
    HOVERGENi HBG051793.
    InParanoidi O43292.
    KOi K05289.
    OMAi LHQSYFF.
    PhylomeDBi O43292.
    TreeFami TF313030.

    Enzyme and pathway databases

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

    Miscellaneous databases

    GeneWikii GPAA1.
    GenomeRNAii 8733.
    NextBioi 32761.
    PROi O43292.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O43292.
    Bgeei O43292.
    CleanExi HS_GPAA1.
    Genevestigatori O43292.

    Family and domain databases

    InterProi IPR007246. Gaa1.
    IPR017063. GPI_prot_transamidse_cplx_GAA1.
    [Graphical view ]
    PANTHERi PTHR13304. PTHR13304. 1 hit.
    Pfami PF04114. Gaa1. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF036762. GAA1. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning of human homolog of yeast GAA1 which is required for attachment of glycosylphosphatidylinositols to proteins."
      Hiroi Y., Komuro I., Chen R., Hosoda T., Mizuno T., Kudoh S., Georgescu S.P., Medof M.E., Yazaki Y.
      FEBS Lett. 421:252-258(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY.
      Tissue: Heart.
    2. "Human and mouse GPAA1 (glycosylphosphatidylinositol anchor attachment 1) genes: genomic structures, chromosome loci and the presence of a minor class intron."
      Inoue N., Ohishi K., Endo Y., Fujita T., Takeda J., Kinoshita T.
      Cytogenet. Cell Genet. 84:199-205(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1).
      Tissue: Lung.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Testis.
    4. "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 2).
      Tissue: Muscle, Placenta and Skin.
    5. "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: PROTEIN SEQUENCE OF 2-21, SUBUNIT, SUBCELLULAR LOCATION, MEMBRANE TOPOLOGY.
    6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiGPAA1_HUMAN
    AccessioniPrimary (citable) accession number: O43292
    Secondary accession number(s): Q9NSS0, Q9UQ31
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 1, 2004
    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 8
      Human chromosome 8: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. PATHWAY comments
      Index of metabolic and biosynthesis pathways

    External Data

    Dasty 3