InnateDB Protein
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IDBP-46057.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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PIGA
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Protein Name
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phosphatidylinositol glycan anchor biosynthesis, class A
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Synonyms
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GPI3; MCAHS2; PIG-A; PNH1;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000369820
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InnateDB Gene
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IDBG-46055 (PIGA)
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Protein Structure
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Function |
Necessary for the synthesis of N-acetylglucosaminyl- phosphatidylinositol, the very early intermediate in GPI-anchor biosynthesis.
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Subcellular Localization |
Endoplasmic reticulum membrane; Single-pass membrane protein.
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Disease Associations |
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:0000269PubMed:10087994, ECO:0000269PubMed:12037021, ECO:0000269PubMed:8167330, ECO:0000269PubMed:8306954, ECO:0000269PubMed:8500164}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.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:0000269PubMed:22305531, ECO:0000269PubMed:24259184, ECO:0000269PubMed:24259288, ECO:0000269PubMed:24706016}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
6
[view]
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Protein-Protein |
6
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0005515
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protein binding
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GO:0008194
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UDP-glycosyltransferase activity
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GO:0016757
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transferase activity, transferring glycosyl groups
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GO:0017176
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phosphatidylinositol N-acetylglucosaminyltransferase activity
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001296
Glycosyl transferase, family 1
IPR013234
PIGA, GPI anchor biosynthesis
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PFAM |
PF00534
PF08288
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P37287
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PhosphoSite |
PhosphoSite-P37287
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TrEMBL |
B3KUV7
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UniProt Splice Variant |
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Entrez Gene |
5277
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UniGene |
Hs.624563
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RefSeq |
NP_002632
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HUGO |
HGNC:8957
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OMIM |
311770
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CCDS |
CCDS14165
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HPRD |
02410
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IMGT |
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EMBL |
AC095351
AK098047
AK303538
BC038236
CH471074
D11466
D28791
S61523
S74936
X77725
X77726
X77727
X77728
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GenPept |
AAD13929
AAD14160
AAH38236
BAA02019
BAA05966
BAG53569
BAG64564
CAB57276
EAW98880
EAW98882
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