Human Gene GPAA1 (ENST00000355091.9_7) from GENCODE V47lift37
  Description: glycosylphosphatidylinositol anchor attachment 1 (from RefSeq NM_003801.4)
Gencode Transcript: ENST00000355091.9_7
Gencode Gene: ENSG00000197858.12_14
Transcript (Including UTRs)
   Position: hg19 chr8:145,137,537-145,141,119 Size: 3,583 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chr8:145,137,634-145,141,028 Size: 3,395 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:145,137,537-145,141,119)mRNA (may differ from genome)Protein (621 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MGIOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GPAA1_HUMAN
DESCRIPTION: RecName: Full=Glycosylphosphatidylinositol anchor attachment 1 protein; Short=GPI anchor attachment protein 1; AltName: Full=GAA1 protein homolog; Short=hGAA1;
FUNCTION: Essential for GPI-anchoring of precursor proteins but not for GPI synthesis. Acts before or during formation of the carbonyl intermediate.
PATHWAY: Glycolipid biosynthesis; glycosylphosphatidylinositol- anchor biosynthesis.
SUBUNIT: Forms a complex with PIGK/GPI8, PIGT, PIGU and PIGS.
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Ubiquitously expressed in fetal and adult tissues. Expressed at higher levels in fetal tissues than adult tissues.
SEQUENCE CAUTION: Sequence=CAB75660.2; Type=Erroneous gene model prediction; Note=Erroneous prediction from an unspliced cDNA;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 57.53 RPKM in Adrenal Gland
Total median expression: 1891.27 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -48.6097-0.501 Picture PostScript Text
3' UTR -31.4091-0.345 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007246 - Gaa1
IPR017063 - GPI_prot_transamidse_cplx_GAA1

Pfam Domains:
PF04114 - Gaa1-like, GPI transamidase component

SCOP Domains:
53187 - Zn-dependent exopeptidases

ModBase Predicted Comparative 3D Structure on O43292
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0015631 tubulin binding
GO:0003923 GPI-anchor transamidase activity
GO:0034235 GPI anchor binding

Biological Process:
GO:0006506 GPI anchor biosynthetic process
GO:0006621 protein retention in ER lumen
GO:0016255 attachment of GPI anchor to protein
GO:0065003 macromolecular complex assembly

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0042765 GPI-anchor transamidase complex


-  Descriptions from all associated GenBank mRNAs
  AL157437 - Homo sapiens mRNA; cDNA DKFZp434E1512 (from clone DKFZp434E1512).
AK312759 - Homo sapiens cDNA, FLJ93169, highly similar to Homo sapiens GPAA1P anchor attachment protein 1 homolog (yeast) (GPAA1), mRNA.
BC004129 - Homo sapiens glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast), mRNA (cDNA clone MGC:1312 IMAGE:3504366), complete cds.
AB002135 - Homo sapiens mRNA for glycosylphosphatidylinositol anchor attachment 1 (GPAA1), complete cds.
BC003171 - Homo sapiens glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast), mRNA (cDNA clone MGC:4406 IMAGE:2906111), complete cds.
BC006383 - Homo sapiens glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast), mRNA (cDNA clone MGC:12663 IMAGE:4099139), complete cds.
AB006969 - Homo sapiens hGAA1 mRNA, complete cds.
DQ895039 - Synthetic construct Homo sapiens clone IMAGE:100009499; FLH180586.01L; RZPDo839D11133D glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast) (GPAA1) gene, encodes complete protein.
EU176312 - Synthetic construct Homo sapiens clone IMAGE:100006412; FLH180593.01X; RZPDo839C05251D glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast) (GPAA1) gene, encodes complete protein.
CU678580 - Synthetic construct Homo sapiens gateway clone IMAGE:100017742 5' read GPAA1 mRNA.
CU675377 - Synthetic construct Homo sapiens gateway clone IMAGE:100017408 5' read GPAA1 mRNA.
KJ892609 - Synthetic construct Homo sapiens clone ccsbBroadEn_02003 GPAA1 gene, encodes complete protein.
KJ901905 - Synthetic construct Homo sapiens clone ccsbBroadEn_11299 GPAA1 gene, encodes complete protein.
JD023361 - Sequence 4385 from Patent EP1572962.
JD027688 - Sequence 8712 from Patent EP1572962.
JD076265 - Sequence 57289 from Patent EP1572962.
JD154036 - Sequence 135060 from Patent EP1572962.
JD161354 - Sequence 142378 from Patent EP1572962.
JD441869 - Sequence 422893 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O43292 (Reactome details) participates in the following event(s):

R-HSA-162836 uPAR precursor + acyl-GPI -> uPAR-acyl-GPI + uPAR propeptide
R-HSA-162791 Attachment of GPI anchor to uPAR
R-HSA-163125 Post-translational modification: synthesis of GPI-anchored proteins
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000355091.1, ENST00000355091.2, ENST00000355091.3, ENST00000355091.4, ENST00000355091.5, ENST00000355091.6, ENST00000355091.7, ENST00000355091.8, GAA1, GPAA1_HUMAN, NM_003801, O43292, Q9NSS0, Q9UQ31, uc317yxy.1, uc317yxy.2
UCSC ID: ENST00000355091.9_7
RefSeq Accession: NM_003801.4
Protein: O43292 (aka GPAA1_HUMAN or GPA1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.