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Aliases for GPAA1 Gene

Aliases for GPAA1 Gene

  • Glycosylphosphatidylinositol Anchor Attachment 1 2 3 5
  • Anchor Attachment Protein 1 (Gaa1p, Yeast) Homolog 2 3
  • GPI Anchor Attachment Protein 1 3 4
  • GPI Transamidase Subunit 2 3
  • GAA1 Protein Homolog 3 4
  • HGAA1 3 4
  • GAA1 3 4
  • Glycosylphosphatidylinositol Anchor Attachment Protein 1 Homolog (Yeast) 2
  • Glycosylphosphatidylinositol Anchor Attachment Protein 1 Homolog 3
  • Glycosylphosphatidylinositol Anchor Attachment 1 Protein 3
  • GPAA1P Anchor Attachment Protein 1 Homolog (Yeast) 2
  • Glycophosphatidylinositol Anchor Attachment 1 3
  • GPAA1P Anchor Attachment Protein 1 Homolog 3

External Ids for GPAA1 Gene

Previous GeneCards Identifiers for GPAA1 Gene

  • GC08U990073
  • GC08M145297
  • GC08P144912
  • GC08P145243
  • GC08P145209
  • GC08P145137
  • GC08P140413

Summaries for GPAA1 Gene

Entrez Gene Summary for GPAA1 Gene

  • 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]

GeneCards Summary for GPAA1 Gene

GPAA1 (Glycosylphosphatidylinositol Anchor Attachment 1) is a Protein Coding gene. Among its related pathways are Glycosylphosphatidylinositol (GPI)-anchor biosynthesis and Metabolism of proteins. GO annotations related to this gene include tubulin binding and GPI-anchor transamidase activity.

UniProtKB/Swiss-Prot for GPAA1 Gene

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

Gene Wiki entry for GPAA1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GPAA1 Gene

Genomics for GPAA1 Gene

Regulatory Elements for GPAA1 Gene

Enhancers for GPAA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08F144455 0.8 Ensembl ENCODE 60.2 +373.9 373857 1.6 PKNOX1 ARNT CREB3L1 ZFP64 SIN3A ZNF2 ZNF416 ZNF207 ZNF548 FOS ZNF623 ZNF251 ZNF250 VPS28 GPAA1 LRRC14 LOC105375803 ZNF517 ZNF34 PPP1R16A
GH08F143460 1.1 Ensembl ENCODE 29.9 -620.3 -620338 3.6 HDGF TBP PKNOX1 TBL1XR1 ZNF493 THRB RAD21 RARA ZNF207 CREM ZNF623 VPS28 JRK SLC52A2 GPAA1 ADCK5 TIGD5 ZNF696 LOC105375798 MINCR
GH08F143968 1.4 Ensembl ENCODE 22.5 -108.4 -108351 11.0 HDGF PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 PLEC GPAA1 MAF1 WDR97 C8orf82 ZNF251 LRRC14 ZNF623 ZNF250 MIR661
GH08F144766 1.3 Ensembl ENCODE 16.2 +685.3 685305 2.3 ATF1 ARNT ARID4B SIN3A GLI4 ZNF48 GTF3C2 ZNF121 FOS TSHZ1 RPL8 GPAA1 VPS28 SLC52A2 ADCK5 HGH1 PARP10 ZNF34 LOC105375805 ZNF251
GH08F143453 0.9 Ensembl ENCODE 13.2 -628.0 -628008 1.6 PKNOX1 ATF1 ARNT CREB3L1 ARID4B SIN3A DMAP1 GTF3C2 FOS NCOA1 TIGD5 VPS28 GPAA1 JRK ENSG00000255050 SLC52A2 ZNF623 MAFA-AS1 ADCK5 HGH1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around GPAA1 on UCSC Golden Path with GeneCards custom track

Promoters for GPAA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001404385 210 1601 MLX ARID4B SIN3A ZNF48 ZNF2 ETS1 SLC30A9 GLIS2 ELK1 ZNF143

Genomic Location for GPAA1 Gene

Chromosome:
8
Start:
144,082,590 bp from pter
End:
144,086,216 bp from pter
Size:
3,627 bases
Orientation:
Plus strand

Genomic View for GPAA1 Gene

Genes around GPAA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GPAA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GPAA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GPAA1 Gene

Proteins for GPAA1 Gene

  • Protein details for GPAA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43292-GPAA1_HUMAN
    Recommended name:
    Glycosylphosphatidylinositol anchor attachment 1 protein
    Protein Accession:
    O43292
    Secondary Accessions:
    • Q9NSS0
    • Q9UQ31

    Protein attributes for GPAA1 Gene

    Size:
    621 amino acids
    Molecular mass:
    67623 Da
    Quaternary structure:
    • Forms a complex with PIGK/GPI8, PIGT, PIGU and PIGS.
    SequenceCaution:
    • Sequence=CAB75660.2; Type=Erroneous gene model prediction; Note=Erroneous prediction from an unspliced cDNA.; Evidence={ECO:0000305};

    Alternative splice isoforms for GPAA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GPAA1 Gene

Post-translational modifications for GPAA1 Gene

  • Ubiquitination at Lys 83, Lys 111, and Lys 329
  • Glycosylation at Asn 203 and Asn 517
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GPAA1 Gene

Domains & Families for GPAA1 Gene

Protein Domains for GPAA1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GPAA1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with GPAA1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for GPAA1 Gene

Function for GPAA1 Gene

Molecular function for GPAA1 Gene

GENATLAS Biochemistry:
glycosylphosphatidylinositol anchor attachment protein 1,expressed in the endoplasmic reticulum,putative component of GPI transamidase (see PIGK)
UniProtKB/Swiss-Prot Function:
Essential for GPI-anchoring of precursor proteins but not for GPI synthesis. Acts before or during formation of the carbonyl intermediate.

Gene Ontology (GO) - Molecular Function for GPAA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003923 contributes_to GPI-anchor transamidase activity NAS 9468317
GO:0005515 protein binding IPI 10793132
GO:0015631 tubulin binding NAS 12052837
GO:0034235 contributes_to GPI anchor binding IMP 14660601
genes like me logo Genes that share ontologies with GPAA1: view
genes like me logo Genes that share phenotypes with GPAA1: view

Animal Model Products

miRNA for GPAA1 Gene

miRTarBase miRNAs that target GPAA1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GPAA1 Gene

Localization for GPAA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GPAA1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GPAA1 Gene COMPARTMENTS Subcellular localization image for GPAA1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3

Gene Ontology (GO) - Cellular Components for GPAA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA,TAS --
GO:0016020 membrane IEA,IDA 19946888
GO:0016021 integral component of membrane IEA --
GO:0042765 GPI-anchor transamidase complex IEA,TAS 15713669
genes like me logo Genes that share ontologies with GPAA1: view

Pathways & Interactions for GPAA1 Gene

genes like me logo Genes that share pathways with GPAA1: view

UniProtKB/Swiss-Prot O43292-GPAA1_HUMAN

  • Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.

Gene Ontology (GO) - Biological Process for GPAA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006461 protein complex assembly NAS 14660601
GO:0006506 GPI anchor biosynthetic process IEA --
GO:0006621 protein retention in ER lumen NAS 12052837
GO:0016255 attachment of GPI anchor to protein NAS,TAS 11483512
genes like me logo Genes that share ontologies with GPAA1: view

No data available for SIGNOR curated interactions for GPAA1 Gene

Drugs & Compounds for GPAA1 Gene

(3) Drugs for GPAA1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sphingosine Experimental Pharma 0
sphinganine Pharma 0
Sphingosine-1-phosphate Pharma Full agonist, Agonist endogenous second messenger and ligand for S1PR1, Endogenous agonist at S1P1-5 0

(462) Additional Compounds for GPAA1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Dehydrosphinganine
  • (2S)-2-amino-1-hydroxyoctadecan-3-one
  • 1-Hydroxy-2-amino-3-oxo-octadecane
  • 2-Amino-1-hydroxy-3-Octadecanone
  • 3-Dehydro-D-sphinganine
  • 3-Dehydrosphinganine
16105-69-4
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
244215-65-4
genes like me logo Genes that share compounds with GPAA1: view

Transcripts for GPAA1 Gene

Unigene Clusters for GPAA1 Gene

Glycosylphosphatidylinositol anchor attachment 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GPAA1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c · 10d ^ 11a ·
SP1: - - - -
SP2: - - - - - - -
SP3: - - - -
SP4: -
SP5: - - - - -
SP6: -
SP7: - -
SP8: - - -
SP9:
SP10:
SP11:
SP12: - -
SP13:
SP14:
SP15: - -
SP16:

ExUns: 11b · 11c ^ 12a · 12b · 12c · 12d ^ 13 ^ 14a · 14b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: -
SP13:
SP14:
SP15:
SP16:

Relevant External Links for GPAA1 Gene

GeneLoc Exon Structure for
GPAA1
ECgene alternative splicing isoforms for
GPAA1

Expression for GPAA1 Gene

mRNA expression in normal human tissues for GPAA1 Gene

Protein differential expression in normal tissues from HIPED for GPAA1 Gene

This gene is overexpressed in Nasal epithelium (50.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GPAA1 Gene



Protein tissue co-expression partners for GPAA1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GPAA1 Gene:

GPAA1

SOURCE GeneReport for Unigene cluster for GPAA1 Gene:

Hs.627962

mRNA Expression by UniProt/SwissProt for GPAA1 Gene:

O43292-GPAA1_HUMAN
Tissue specificity: Ubiquitously expressed in fetal and adult tissues. Expressed at higher levels in fetal tissues than adult tissues.
genes like me logo Genes that share expression patterns with GPAA1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for GPAA1 Gene

Orthologs for GPAA1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GPAA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GPAA1 34 35
  • 99.46 (n)
cow
(Bos Taurus)
Mammalia GPAA1 34 35
  • 90.02 (n)
dog
(Canis familiaris)
Mammalia GPAA1 34 35
  • 87.55 (n)
rat
(Rattus norvegicus)
Mammalia Gpaa1 34
  • 86.04 (n)
mouse
(Mus musculus)
Mammalia Gpaa1 34 16 35
  • 85.78 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 82 (a)
OneToMany
-- 35
  • 80 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia GPAA1 35
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GPAA1 35
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gpaa1 34
  • 68.46 (n)
Str.5051 34
African clawed frog
(Xenopus laevis)
Amphibia MGC68658 34
zebrafish
(Danio rerio)
Actinopterygii LOC555496 34
  • 63.96 (n)
GPAA1 35
  • 60 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010738 34
  • 47.5 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3033 36 34 35
  • 47.49 (n)
worm
(Caenorhabditis elegans)
Secernentea hpo-3 35
  • 21 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR087C 34
  • 48.4 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F19118g 34
  • 42.58 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GAA1 34 35 37
  • 40.92 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02368 34
  • 49.65 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gaa1 34
  • 39.82 (n)
Species where no ortholog for GPAA1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GPAA1 Gene

ENSEMBL:
Gene Tree for GPAA1 (if available)
TreeFam:
Gene Tree for GPAA1 (if available)

Paralogs for GPAA1 Gene

Pseudogenes.org Pseudogenes for GPAA1 Gene

genes like me logo Genes that share paralogs with GPAA1: view

No data available for Paralogs for GPAA1 Gene

Variants for GPAA1 Gene

Sequence variations from dbSNP and Humsavar for GPAA1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs111328532 -- 144,081,316(+) GGAGG(C/T)GGAGG upstream-variant-2KB
rs112395021 -- 144,086,550(+) TGCTA(A/G)GACTG downstream-variant-500B
rs112424234 -- 144,081,016(+) GGGAT(A/G)TGGGG intron-variant, downstream-variant-500B, upstream-variant-2KB
rs112428562 -- 144,082,219(+) TGTGA(C/T)TCCAC upstream-variant-2KB
rs112494800 -- 144,082,194(+) GAAAA(A/C)CTCGG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for GPAA1 Gene

Variant ID Type Subtype PubMed ID
dgv12431n54 CNV loss 21841781
dgv12433n54 CNV gain 21841781
dgv906n27 CNV loss 19166990
esv2759651 CNV gain 17122850
esv29971 CNV loss 17803354
nsv1025071 CNV gain 25217958
nsv428208 CNV gain 18775914
nsv466014 CNV loss 19166990
nsv470249 CNV loss 18288195
nsv470250 CNV gain 18288195
nsv515809 CNV gain+loss 19592680
nsv612906 CNV loss 21841781
nsv612907 CNV gain+loss 21841781
nsv612914 CNV loss 21841781
nsv612915 CNV loss 21841781
nsv6447 CNV insertion 18451855
nsv950015 CNV deletion 24416366

Variation tolerance for GPAA1 Gene

Residual Variation Intolerance Score: 47.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.52; 55.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GPAA1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GPAA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GPAA1 Gene

Disorders for GPAA1 Gene

Relevant External Links for GPAA1

Genetic Association Database (GAD)
GPAA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GPAA1

No disorders were found for GPAA1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GPAA1 Gene

Publications for GPAA1 Gene

  1. Human and mouse GPAA1 (glycosylphosphatidylinositol anchor attachment 1) genes: genomic structures, chromosome loci and the presence of a minor class intron. (PMID: 10393431) Inoue N. … Kinoshita T. (Cytogenet. Cell Genet. 1999) 3 4 22 64
  2. Molecular cloning of human homolog of yeast GAA1 which is required for attachment of glycosylphosphatidylinositols to proteins. (PMID: 9468317) Hiroi Y. … Yazaki Y. (FEBS Lett. 1998) 3 4 22 64
  3. Human metabolic individuality in biomedical and pharmaceutical research. (PMID: 21886157) Suhre K. … Gieger C. (Nature 2011) 3 46 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. A conserved proline in the last transmembrane segment of Gaa1 is required for glycosylphosphatidylinositol (GPI) recognition by GPI transamidase. (PMID: 14660601) Vainauskas S. … Menon A.K. (J. Biol. Chem. 2004) 3 22 64

Products for GPAA1 Gene

Sources for GPAA1 Gene

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