GPAA1
entrez
8733
canonical
uniprot
O43292
canonical
ensembl
ENSG00000197858
resolver
ensp
ENSP00000347206
resolver
genesymbol
GPAA1
resolver
genesymbol_syn
GAA1
resolver
hgnc
HGNC:4446
resolver
uniprot
Q9NSS0
resolver
uniprot
Q9UQ31
resolver
uniprot_entry
GPAA1_HUMAN
resolver
uniprot_sec
Q9NSS0
resolver
uniprot_sec
Q9UQ31
resolver
amino_acid_sequence
MGLLSDPVRRRALARLVLRLNAPLCVLSYVAGIAWFLALVFPPLTQRTYMSENAMGSTMVEEQFAGGDRARAFARDFAAHRKKSGALPVAWLERTMRSVGLEVYTQSFSRKLPFPDETHERYMVSGTNVYGILRAPRAASTESLVLTVPCGSDSTNSQAVGLLLALAAHFRGQIYWAKDIVFLVTEHDLLGTEAWLEAYHDVNVTGMQSSPLQGRAGAIQAAVALELSSDVVTSLDVAVEGLNGQLPNLDLLNLFQTFCQKGGLLCTLQGKLQPEDWTSLDGPLQGLQTLLLMVLRQASGRPHGSHGLFLRYRVEALTLRGINSFRQYKYDLVAVGKALEGMFRKLNHLLERLHQSFFLYLLPGLSRFVSIGLYMPAVGFLLLVLGLKALELWMQLHEAGMGLEEPGGAPGPSVPLPPSQGVGLASLVAPLLISQAMGLALYVLPVLGQHVATQHFPVAEAEAVVLTLLAIYAAGLALPHNTHRVVSTQAPDRGWMALKLVALIYLALQLGCIALTNFSLGFLLATTMVPTAALAKPHGPRTLYAALLVLTSPAATLLGSLFLWRELQEAPLSLAEGWQLFLAALAQGVLEHHTYGALLFPLLSLGLYPCWLLFWNVLFWK
uniprot
proteins
disease_involvement
DISEASE: Glycosylphosphatidylinositol biosynthesis defect 15 (GPIBD15) [MIM:617810]: 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. {ECO:0000269|PubMed:29100095}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the glycosylphosphatidylinositol-anchor (GPI-anchor) transamidase (GPI-T) complex that catalyzes the formation of the linkage between a proprotein and a GPI-anchor and participates in GPI anchored protein biosynthesis (PubMed:11483512, PubMed:29100095, PubMed:34576938, PubMed:35165458, PubMed:35551457, PubMed:37684232, PubMed:9468317). Binds GPI-anchor (PubMed:37684232). {ECO:0000269|PubMed:11483512, ECO:0000269|PubMed:29100095, ECO:0000269|PubMed:34576938, ECO:0000269|PubMed:35165458, ECO:0000269|PubMed:35551457, ECO:0000269|PubMed:37684232, ECO:0000269|PubMed:9468317}.
uniprot
proteins
mass_dalton
67623
uniprot
proteins
mutagenesis
MUTAGEN 52; /note="E->A: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 137; /note="R->A: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 153; /note="D->A: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 186..187; /note="EH->AA: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 188; /note="D->A: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 203; /note="N->Q: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 226; /note="E->A: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 250; /note="D->A: Decreased function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 325; /note="F->A: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 328; /note="Y->A: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 329; /note="K->A: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 351..352; /note="ER->AA: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 354; /note="H->F: Reduces GPI-anchor transamidase activity by ~25%."; /evidence="ECO:0000269|PubMed:35551457"; MUTAGEN 517; /note="N->Q: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938
uniprot
proteins
pathway_participation
PATHWAY: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis. {ECO:0000269|PubMed:11483512, ECO:0000269|PubMed:29100095, ECO:0000269|PubMed:34576938, ECO:0000269|PubMed:35165458, ECO:0000269|PubMed:35551457, ECO:0000269|PubMed:37684232, ECO:0000269|PubMed:9468317}.
uniprot
proteins
pubmed
10393431
uniprot
proteins
pubmed
11483512
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
29100095
uniprot
proteins
pubmed
34576938
uniprot
proteins
pubmed
35165458
uniprot
proteins
pubmed
35551457
uniprot
proteins
pubmed
37684232
uniprot
proteins
pubmed
9468317
uniprot
proteins
sequence_length
621
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:11483512, ECO:0000305|PubMed:35165458, ECO:0000305|PubMed:35551457}; Multi-pass membrane protein {ECO:0000269|PubMed:35165458, ECO:0000269|PubMed:35551457}.
uniprot
proteins
transmembrane_region
TRANSMEM 20..41; /note="Helical"; /evidence="ECO:0000269|PubMed:35165458, ECO:0000269|PubMed:35551457, ECO:0007744|PDB:7W72, ECO:0007744|PDB:7WLD"; TRANSMEM 371..393; /note="Helical"; /evidence="ECO:0000269|PubMed:35165458, ECO:0000269|PubMed:35551457, ECO:0007744|PDB:7W72, ECO:0007744|PDB:7WLD"; TRANSMEM 426..450; /note="Helical"; /evidence="ECO:0000269|PubMed:35165458, ECO:0000269|PubMed:35551457, ECO:0007744|PDB:7W72, ECO:0007744|PDB:7WLD"; TRANSMEM 463..483; /note="Helical"; /evidence="ECO:0000269|PubMed:35165458, ECO:0000269|PubMed:35551457, ECO:0007744|PDB:7W72, ECO:0007744|PDB:7WLD"; TRANSMEM 496..519; /note="Helical"; /evidence="ECO:0000269|PubMed:35165458, ECO:0000269|PubMed:35551457, ECO:0007744|PDB:7W72, ECO:0007744|PDB:7WLD"; TRANSMEM 520..536; /note="Helical"; /evidence="ECO:0000269|PubMed:35165458, ECO:0000269|PubMed:35551457, ECO:0007744|PDB:7W72, ECO:0007744|PDB:7WLD"; TRANSMEM 541..563; /note="Helical"; /evidence="ECO:0000269|PubMed:35165458, ECO:0000269|PubMed:35551457, ECO:0007744|PDB:7W72, ECO:0007744|PDB:7WLD"; TRANSMEM 598..619; /note="Helical"; /evidence="ECO:0000269|PubMed:35165458, ECO:0000269|PubMed:35551457, ECO:0007744|PDB:7W72, ECO:0007744|PDB:7WLD
uniprot
proteins