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

Gene ID: 8733, updated on 24-Dec-2019

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

Genomic context

See GPAA1 in Genome Data Viewer
Location:
8q24.3
Exon count:
12
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (144082634..144086216)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (145137064..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

NHGRI GWAS Catalog

Description
Human metabolic individuality in biomedical and pharmaceutical research.
NHGRI GWA Catalog

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 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
tubulin binding NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
attachment of GPI anchor to protein IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
attachment of GPI anchor to protein NAS
Non-traceable Author Statement
more info
PubMed 
attachment of GPI anchor to protein TAS
Traceable Author Statement
more info
PubMed 
protein retention in ER lumen NAS
Non-traceable Author Statement
more info
PubMed 
protein-containing complex assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
GPI-anchor transamidase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GPI-anchor transamidase complex IDA
Inferred from Direct Assay
more info
PubMed 
GPI-anchor transamidase complex TAS
Traceable Author Statement
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
membrane HDA PubMed 

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)

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 109.20191205

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)
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