Format

Send to:

Choose Destination
    • Showing Current items.

    GPAA1 glycosylphosphatidylinositol anchor attachment 1 [ Homo sapiens (human) ]

    Gene ID: 8733, updated on 16-Aug-2021

    Summary

    Official Symbol
    GPAA1provided by HGNC
    Official Full Name
    glycosylphosphatidylinositol anchor attachment 1provided by HGNC
    Primary source
    HGNC:HGNC:4446
    See related
    Ensembl:ENSG00000197858 MIM:603048
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GAA1; hGAA1; GPIBD15
    Summary
    Posttranslational glycosylphosphatidylinositol (GPI) anchor attachment serves as a general mechanism for linking proteins to the cell surface membrane. The protein encoded by this gene presumably functions in GPI anchoring at the GPI transfer step. The mRNA transcript is ubiquitously expressed in both fetal and adult tissues. The anchor attachment protein 1 contains an N-terminal signal sequence, 1 cAMP- and cGMP-dependent protein kinase phosphorylation site, 1 leucine zipper pattern, 2 potential N-glycosylation sites, and 8 putative transmembrane domains. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in kidney (RPKM 27.5), thyroid (RPKM 25.6) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GPAA1 in Genome Data Viewer
    Location:
    8q24.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (144082634..144086216)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (145137537..145141119)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene 5-oxoprolinase, ATP-hydrolysing Neighboring gene microRNA 6846 Neighboring gene exosome component 4 Neighboring gene microRNA 6847 Neighboring gene cytochrome c1 Neighboring gene SHANK associated RH domain interactor

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Glycosylphosphatidylinositol biosynthesis defect 15
    MedGen: C4540520 OMIM: 617810 GeneReviews: Not available
    Compare labs
    Human metabolic individuality in biomedical and pharmaceutical research.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to GPI anchor binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    contributes_to GPI-anchor transamidase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables tubulin binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in attachment of GPI anchor to protein IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in attachment of GPI anchor to protein NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in attachment of GPI anchor to protein TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in protein retention in ER lumen NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in protein-containing complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of GPI-anchor transamidase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of GPI-anchor transamidase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of GPI-anchor transamidase complex TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
     
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in membrane HDA PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    glycosylphosphatidylinositol anchor attachment 1 protein
    Names
    GAA1 protein homolog
    GPAA1P anchor attachment protein 1 homolog
    GPI anchor attachment protein 1
    GPI transamidase subunit
    anchor attachment protein 1 (Gaa1p, yeast) homolog
    glycophosphatidylinositol anchor attachment 1
    glycosylphosphatidylinositol anchor attachment protein 1 homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_003801.4NP_003792.1  glycosylphosphatidylinositol anchor attachment 1 protein

      See identical proteins and their annotated locations for NP_003792.1

      Status: REVIEWED

      Source sequence(s)
      BC003171, BC004129
      Consensus CDS
      CCDS43776.1
      UniProtKB/Swiss-Prot
      O43292
      Related
      ENSP00000347206.4, ENST00000355091.9
      Conserved Domains (1) summary
      pfam04114
      Location:126613
      Gaa1; Gaa1-like, GPI transamidase component

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      144082634..144086216
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center