PIGA
entrez
5277
canonical
uniprot
P37287
canonical
ensembl
ENSG00000165195
resolver
ensp
ENSP00000369820
resolver
ensp
ENSP00000489540
resolver
genesymbol
PIGA
resolver
hgnc
HGNC:8957
resolver
uniprot
A0A2K4ZA02
resolver
uniprot
B4E0V2
resolver
uniprot
Q16025
resolver
uniprot
Q16250
resolver
uniprot_entry
A0A2K4ZA02_HUMAN
resolver
uniprot_entry
PIGA_HUMAN
resolver
uniprot_sec
B4E0V2
resolver
uniprot_sec
Q16025
resolver
uniprot_sec
Q16250
resolver
amino_acid_sequence
MACRGGAGNGHRASATLSRVSPGSLYTCRTRTHNICMVSDFFYPNMGGVESHIYQLSQCLIERGHKVIIVTHAYGNRKGIRYLTSGLKVYYLPLKVMYNQSTATTLFHSLPLLRYIFVRERVTIIHSHSSFSAMAHDALFHAKTMGLQTVFTDHSLFGFADVSSVLTNKLLTVSLCDTNHIICVSYTSKENTVLRAALNPEIVSVIPNAVDPTDFTPDPFRRHDSITIVVVSRLVYRKGIDLLSGIIPELCQKYPDLNFIIGGEGPKRIILEEVRERYQLHDRVRLLGALEHKDVRNVLVQGHIFLNTSLTEAFCMAIVEAASCGLQVVSTRVGGIPEVLPENLIILCEPSVKSLCEGLEKAIFQLKSGTLPAPENIHNIVKTFYTWRNVAERTEKVYDRVSVEAVLPMDKRLDRLISHCGPVTGYIFALLAVFNFLFLIFLRWMTPDSIIDVAIDATGPRGAWTNNYSHSKRGGENNEISETR
uniprot
proteins
disease_involvement
DISEASE: Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]: A disorder characterized by hemolytic anemia with hemoglobinuria, thromboses in large vessels, and a deficiency in hematopoiesis. Red blood cell breakdown with release of hemoglobin into the urine is manifested most prominently by dark-colored urine in the morning. {ECO:0000269|PubMed:10087994, ECO:0000269|PubMed:12037021, ECO:0000269|PubMed:8167330, ECO:0000269|PubMed:8306954, ECO:0000269|PubMed:8500164}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) [MIM:300868]: An X-linked recessive developmental disorder characterized by dysmorphic features, neonatal hypotonia, myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. Most affected individuals die in infancy. {ECO:0000269|PubMed:22305531, ECO:0000269|PubMed:24259184, ECO:0000269|PubMed:24259288, ECO:0000269|PubMed:24706016, ECO:0000269|PubMed:26545172, ECO:0000269|PubMed:26993267, ECO:0000269|PubMed:34875027}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neurodevelopmental disorder with epilepsy and hemochromatosis (NEDEPH) [MIM:301072]: An X-liked recessive disorder characterized by severe developmental delay, intellectual disability, early-onset epilepsy, and early systemic iron overload resulting in juvenile-onset hemochromatosis. Variable additional features may include joint contractures, visual or hearing impairment, and skin abnormalities. {ECO:0000269|PubMed:24259288, ECO:0000269|PubMed:34875027}. Note=The disease is caused by variants affecting the gene represented in this entry. PIGA deficiency causes disruption of iron homeostasis, due to failure to attach GPI anchors to hemojuvelin (HJV), a BMP coreceptor that regulates hepcidin (HAMP) expression. HAMP is an essential regulator of iron absorption and distribution across tissues. PIGA-deficient cells lack hemojuvelin surface expression and show significantly lower HAMP mRNA levels compared to control cells. {ECO:0000269|PubMed:34875027}.
uniprot
proteins
ec_number
2.4.1.198
uniprot
proteins
function
FUNCTION: Catalytic subunit of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynthesis. {ECO:0000305|PubMed:16162815}.
uniprot
proteins
mass_dalton
54127
uniprot
proteins
pathway_participation
PATHWAY: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis. {ECO:0000269|PubMed:16162815}.
uniprot
proteins
protein_family
Glycosyltransferase 4 subfamily
uniprot
proteins
protein_family
Glycosyltransferase group 1 family
uniprot
proteins
pubmed
10087994
uniprot
proteins
pubmed
12037021
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
16162815
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
22305531
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24259184
uniprot
proteins
pubmed
24259288
uniprot
proteins
pubmed
24706016
uniprot
proteins
pubmed
26545172
uniprot
proteins
pubmed
26993267
uniprot
proteins
pubmed
27864847
uniprot
proteins
pubmed
34875027
uniprot
proteins
pubmed
7680492
uniprot
proteins
pubmed
8081230
uniprot
proteins
pubmed
8081362
uniprot
proteins
pubmed
8167330
uniprot
proteins
pubmed
8193350
uniprot
proteins
pubmed
8306954
uniprot
proteins
pubmed
8500164
uniprot
proteins
pubmed
8900170
uniprot
proteins
pubmed
9463366
uniprot
proteins
sequence_length
484
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Rough endoplasmic reticulum membrane {ECO:0000269|PubMed:8900170}; Single-pass membrane protein {ECO:0000255}. Note=Endoplasmic reticulum localization is mediated by the C-terminus. {ECO:0000269|PubMed:8900170}.
uniprot
proteins
transmembrane_region
TRANSMEM 422..442; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins