GPAA1 gene

glycosylphosphatidylinositol anchor attachment 1

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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

From NCBI Gene:

  • GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15

From UniProt:

Glycosylphosphatidylinositol biosynthesis defect 15 (GPIBD15): An autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. [MIM:617810]

Cytogenetic Location: 8q24.3, which is the long (q) arm of chromosome 8 at position 24.3

Molecular Location: base pairs 144,082,621 to 144,086,216 on chromosome 8 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 8q24.3, which is the long (q) arm of chromosome 8 at position 24.3
  • GAA1
  • GPIBD15
  • hGAA1