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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. 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

Additional gene information for GPAA1 Gene

No data available for CIViC summary , 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
GH08H144455 1.4 Ensembl ENCODE 66.8 +373.9 373857 1 HNRNPUL1 HDGF PKNOX1 FOXA2 ARNT ZFP64 SIN3A ZNF2 ZNF766 ZNF416 ZNF251 ZNF623 ZNF7 ZNF250 ZNF16 LRRC14 VPS28 CPSF1 ZNF517 ZNF34
GH08H143460 1.4 Ensembl ENCODE dbSUPER 40.7 -620.3 -620338 3 HDGF PKNOX1 ZNF493 SIN3A ZNF207 ATF7 RUNX3 ZNF202 JUNB REST ZNF623 CPSF1 VPS28 SLC52A2 JRK GPAA1 ADCK5 TIGD5 ZNF707 ZNF696
GH08H143968 1.6 Ensembl ENCODE dbSUPER 22.5 -108.4 -108351 11 HDGF FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 PLEC ZNF623 ZNF7 ZNF251 LRRC14 ZNF16 CPSF1 GPAA1 WDR97 ZNF707
GH08H144101 1.2 ENCODE 29.1 +21.3 21322 3 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF766 ZNF623 ZNF7 ZNF16 ZNF251 ZNF250 ZNF517 CPSF1 VPS28 ZNF696 LRRC14
GH08H144014 1.5 FANTOM5 Ensembl ENCODE 21 -67.7 -67719 0 ZSCAN4 INSM2 KLF17 SIN3A ZEB1 ZNF155 GLIS2 ZNF366 SCRT2 FOS ZNF7 ZNF250 ZNF623 ZNF251 VPS28 GPAA1 AK3P2 ZNF16 SPATC1 CPSF1
- Elite enhancer and/or Elite enhancer-gene association 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
ENSR00000232204 210 1201 MLX ARID4B SIN3A ZNF2 ZBTB7B 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 isoforms=83, isoforms=2111, and posLast=329329
  • Glycosylation at posLast=203203 and posLast=517517
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GPAA1 Gene

Domains & Families for GPAA1 Gene

Gene Families for GPAA1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

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 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.

Phenotypes From GWAS Catalog for GPAA1 Gene

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

CRISPR Products

miRNA for GPAA1 Gene

miRTarBase miRNAs that target GPAA1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GPAA1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
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 TAS --
GO:0016020 membrane IDA,IEA 19946888
GO:0016021 integral component of membrane IEA --
GO:0042765 GPI-anchor transamidase complex TAS,IEA 15713669
genes like me logo Genes that share ontologies with GPAA1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GPAA1 Gene

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 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 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GPAA1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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.

Evidence on tissue expression from TISSUES for GPAA1 Gene

  • Nervous system(4.8)
  • Skin(4.7)
  • Lung(4.5)
  • Heart(4.3)
  • Muscle(4.3)
  • Kidney(2.9)
  • Intestine(2.4)
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 , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 99.46 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GPAA1 33 34
  • 90.02 (n)
dog
(Canis familiaris)
Mammalia GPAA1 33 34
  • 87.55 (n)
rat
(Rattus norvegicus)
Mammalia Gpaa1 33
  • 86.04 (n)
mouse
(Mus musculus)
Mammalia Gpaa1 16 34 33
  • 85.78 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 82 (a)
OneToMany
-- 34
  • 80 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia GPAA1 34
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GPAA1 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gpaa1 33
  • 68.46 (n)
Str.5051 33
African clawed frog
(Xenopus laevis)
Amphibia MGC68658 33
zebrafish
(Danio rerio)
Actinopterygii LOC555496 33
  • 63.96 (n)
GPAA1 34
  • 60 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010738 33
  • 47.5 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3033 35 33 34
  • 47.49 (n)
worm
(Caenorhabditis elegans)
Secernentea hpo-3 34
  • 21 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR087C 33
  • 48.4 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F19118g 33
  • 42.58 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GAA1 33 34 36
  • 40.92 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02368 33
  • 49.65 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gaa1 33
  • 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
rs1000244007 -- 144,082,089(+) AGTGA(C/G)AGTAT upstream-variant-2KB
rs1000296212 -- 144,081,819(+) CCACT(G/T)TAGCC upstream-variant-2KB
rs1001959101 -- 144,082,716(+) CCGCG(C/G)CGCCC utr-variant-5-prime
rs1002623580 -- 144,085,305(+) GGCCT(C/T)GCTCG reference, missense
rs1004321110 -- 144,086,671(+) TGGCT(G/T)CCTCA downstream-variant-500B

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 (Cytogenetics and cell genetics 1999) 3 4 22 60
  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 letters 1998) 3 4 22 60
  3. Human metabolic individuality in biomedical and pharmaceutical research. (PMID: 21886157) Suhre K … Gieger C (Nature 2011) 3 45 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  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 AK (The Journal of biological chemistry 2004) 3 22 60

Products for GPAA1 Gene

Sources for GPAA1 Gene

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