The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

Links

 

Gene Review

GPAA1  -  glycosylphosphatidylinositol anchor...

Homo sapiens

Synonyms: GAA1, GAA1 protein homolog, GPI anchor attachment protein 1, Glycosylphosphatidylinositol anchor attachment 1 protein, hGAA1
 
 
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.
 

Disease relevance of GPAA1

  • In this study, we observed that GPAA1 transcript in the HCCs (n = 93) showed a significantly higher expression level compared with their paralleled adjacent nontumor liver tissues, cirrhosis (n = 15) and normal (n = 16) liver tissues using real-time quantitative RT-PCR (p < 0.005) [1].
  • Alterations in the 6p24 locus containing the GAAP-1 gene are frequent in acute myelogenous leukemia (AML), and AML-derived cell lines display reduced GAAP-1 mRNA levels [2].
  • In a mouse model of GSD-II, we demonstrate that infection of the murine liver with a modified adenovirus (Ad) vector encoding human GAA (hGAA) resulted in long-term persistence of the vector in liver tissues for at least 6 months [3].
  • We describe a sporadic case with onset at 53 years of age and a novel VLOFA phenotype mimicking multiple system atrophy (MSA) of cerebellar type associated with minimal GAA1 expansion [4].
  • Very late-onset Friedreich's ataxia with minimal GAA1 expansion mimicking multiple system atrophy of cerebellar type [4].
 

High impact information on GPAA1

 

Biological context of GPAA1

 

Anatomical context of GPAA1

  • Overexpression of antisense hGAA1 in human K562 cells significantly reduced the production of a reporter GPI-anchored protein [11].
  • Recombinant hGAA is identified in a lysosomal location in these muscle cells by immunocytochemistry, and enzyme activity is transferred to deficient skeletal muscle cells grown in coculture [8].
  • Similar recombinant CHO cell lines were produced that expressed the glycosylphosphatidylinositol-(GPI-) anchored FR type beta and a truncated form of FR type beta (FR-beta delta), in which the normal carboxyl-terminal signal for GPI anchor attachment was deleted [12].
  • The sensory action potential amplitude at the wrist (wSAP) and at the medial malleolus (m mal SAP) and the percentage of myelinated fibres with diameter larger than 7, 9, and 11 microm in the sural nerve were correlated with disease duration and GAA expansion size on the shorter (GAA1) and larger (GAA2) expanded allele in each pair [13].
 

Associations of GPAA1 with chemical compounds

  • All other substitutions including cysteine (permitted at the attachment site in other GPI-anchored proteins) abolish both GPI anchor attachment and transport to the cell surface, resulting in accumulation of uncleaved fusion protein in internal compartments (endoplasmic reticulum and Golgi) [7].
 

Other interactions of GPAA1

  • There is a human pseudo GPAA1 gene (GPAA1P1) that is located at 2q12-->q14 [9].
 

Analytical, diagnostic and therapeutic context of GPAA1

  • The mouse GPAA1 gene (Gpaa1) bearing AG at the 3' splice site prepared by site-directed mutagenesis was functional, indicating that any nucleotide is allowed at the 3' end of a minor class intron [9].
  • Molecular cloning of human homolog of yeast GAA1 which is required for attachment of glycosylphosphatidylinositols to proteins [11].
  • Glycogen storage in multiple muscles of old GSD-II mice can be rapidly cleared after a single intravenous injection with a modified adenoviral vector expressing hGAA [14].
  • To investigate the potential for disease reversibility in old GSD-II mice, we studied their responsiveness to exogenous hGAA exposure via a gene therapy approach that we have previously shown to be efficacious in young GAA-KO mice [14].
  • 3. After isoelectric focusing the GAA2 isozyme migrated cathodally with respect to the GAA1 isozyme, whereas with the previous starch-gel electrophoresis method their relative positions were reversed [15].

References

  1. Increased expression of glycosyl-phosphatidylinositol anchor attachment protein 1 (GPAA1) is associated with gene amplification in hepatocellular carcinoma. Ho, J.C., Cheung, S.T., Patil, M., Chen, X., Fan, S.T. Int. J. Cancer (2006) [Pubmed]
  2. GAAP-1: a transcriptional activator of p53 and IRF-1 possesses pro-apoptotic activity. Lallemand, C., Palmieri, M., Blanchard, B., Meritet, J.F., Tovey, M.G. EMBO Rep. (2002) [Pubmed]
  3. Long-term efficacy after [E1-, polymerase-] adenovirus-mediated transfer of human acid-alpha-glucosidase gene into glycogen storage disease type II knockout mice. Ding, E.Y., Hodges, B.L., Hu, H., McVie-Wylie, A.J., Serra, D., Migone, F.K., Pressley, D., Chen, Y.T., Amalfitano, A. Hum. Gene Ther. (2001) [Pubmed]
  4. Very late-onset Friedreich's ataxia with minimal GAA1 expansion mimicking multiple system atrophy of cerebellar type. Berciano, J., Infante, J., García, A., Polo, J.M., Volpini, V., Combarros, O. Mov. Disord. (2005) [Pubmed]
  5. Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower "affinity" for glycogen (GAA 2) and transient gene expression in deficient cells. Martiniuk, F., Bodkin, M., Tzall, S., Hirschhorn, R. Am. J. Hum. Genet. (1990) [Pubmed]
  6. Inositol deacylation of glycosylphosphatidylinositol-anchored proteins is mediated by mammalian PGAP1 and yeast Bst1p. Tanaka, S., Maeda, Y., Tashima, Y., Kinoshita, T. J. Biol. Chem. (2004) [Pubmed]
  7. Glycophospholipid membrane anchor attachment. Molecular analysis of the cleavage/attachment site. Moran, P., Raab, H., Kohr, W.J., Caras, I.W. J. Biol. Chem. (1991) [Pubmed]
  8. Intercellular transfer of the virally derived precursor form of acid alpha-glucosidase corrects the enzyme deficiency in inherited cardioskeletal myopathy Pompe disease. Pauly, D.F., Fraites, T.J., Toma, C., Bayes, H.S., Huie, M.L., Hirschhorn, R., Plotz, P.H., Raben, N., Kessler, P.D., Byrne, B.J. Hum. Gene Ther. (2001) [Pubmed]
  9. Human and mouse GPAA1 (Glycosylphosphatidylinositol anchor attachment 1) genes: genomic structures, chromosome loci and the presence of a minor class intron. Inoue, N., Ohishi, K., Endo, Y., Fujita, T., Takeda, J., Kinoshita, T. Cytogenet. Cell Genet. (1999) [Pubmed]
  10. Comparative efficiencies of C-terminal signals of native glycophosphatidylinositol (GPI)-anchored proproteins in conferring GPI-anchoring. Chen, R., Knez, J.J., Merrick, W.C., Medof, M.E. J. Cell. Biochem. (2001) [Pubmed]
  11. Molecular cloning of human homolog of yeast GAA1 which is required for attachment of glycosylphosphatidylinositols to proteins. Hiroi, Y., Komuro, I., Chen, R., Hosoda, T., Mizuno, T., Kudoh, S., Georgescu, S.P., Medof, M.E., Yazaki, Y. FEBS Lett. (1998) [Pubmed]
  12. Folate receptor type gamma is primarily a secretory protein due to lack of an efficient signal for glycosylphosphatidylinositol modification: protein characterization and cell type specificity. Shen, F., Wu, M., Ross, J.F., Miller, D., Ratnam, M. Biochemistry (1995) [Pubmed]
  13. Relation between trinucleotide GAA repeat length and sensory neuropathy in Friedreich's ataxia. Santoro, L., De Michele, G., Perretti, A., Crisci, C., Cocozza, S., Cavalcanti, F., Ragno, M., Monticelli, A., Filla, A., Caruso, G. J. Neurol. Neurosurg. Psychiatr. (1999) [Pubmed]
  14. Glycogen storage in multiple muscles of old GSD-II mice can be rapidly cleared after a single intravenous injection with a modified adenoviral vector expressing hGAA. Xu, F., Ding, E., Migone, F., Serra, D., Schneider, A., Chen, Y.T., Amalfitano, A. The journal of gene medicine. (2005) [Pubmed]
  15. Extension of human acid alpha-glucosidase polymorphism by isoelectric focusing in polyacrylamide gel. Nickel, B.E., McAlpine, P.J. Ann. Hum. Genet. (1982) [Pubmed]
 
WikiGenes - Universities