Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5277
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphatidylinositol glycan anchor biosynthesis class A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PIGA
Synonyms (NCBI Gene) Gene synonyms aliases
GPI3, MCAHS2, NEDEPH, PIG-A, PNH1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MCAHS2, NEDEPH, PNH1
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp22.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein required for synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first intermediate in the biosynthetic pathway of GPI anchor. The GPI anchor is a glycolipid found on many blood cells and which serves to anc
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs199422232 G>T Pathogenic Upstream transcript variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, stop gained
rs199422233 G>A Pathogenic Upstream transcript variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, stop gained
rs201119959 T>A,C Uncertain-significance, pathogenic Upstream transcript variant, genic upstream transcript variant, intron variant, coding sequence variant, missense variant
rs387906726 G>A,T Likely-benign, pathogenic Non coding transcript variant, synonymous variant, stop gained, coding sequence variant
rs587776723 A>- Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT028798 hsa-miR-26b-5p Microarray 19088304
MIRT043655 hsa-miR-326 CLASH 23622248
MIRT566430 hsa-miR-548e-5p PAR-CLIP 20371350
MIRT566429 hsa-miR-548p PAR-CLIP 20371350
MIRT566428 hsa-miR-16-1-3p PAR-CLIP 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000506 Component Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex IBA 21873635
GO:0000506 Component Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex IDA 16162815
GO:0005515 Function Protein binding IPI 16162815
GO:0005789 Component Endoplasmic reticulum membrane IDA 16162815
GO:0005789 Component Endoplasmic reticulum membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
311770 8957 ENSG00000165195
Protein
UniProt ID P37287
Protein name Phosphatidylinositol N-acetylglucosaminyltransferase subunit A (EC 2.4.1.198) (GlcNAc-PI synthesis protein) (Phosphatidylinositol-glycan biosynthesis class A protein) (PIG-A)
Protein 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08288 PIGA 72 161 PIGA (GPI anchor biosynthesis) Family
PF00534 Glycos_transf_1 214 371 Glycosyl transferases group 1 Family
Sequence
MACRGGAGNGHRASATLSRVSPGSLYTCRTRTHNICMVSDFFYPNMGGVESHIYQLSQCL
IERGHKVIIVTHAYGNRKGIRYLTSGLKVYYLPLKVMYNQSTATTLFHSLPLLRYIFVRE
RVTIIHSHSSFSAMAHDALFHAKTMGLQTVFTDHSLFGFAD
VSSVLTNKLLTVSLCDTNH
IICVSYTSKENTVLRAALNPEIVSVIPNAVDPTDFTPDPFRRHDSITIVVVSRLVYRKGI
DLLSGIIPELCQKYPDLNFIIGGEGPKRIILEEVRERYQLHDRVRLLGALEHKDVRNVLV
QGHIFLNTSLTEAFCMAIVEAASCGLQVVSTRVGGIPEVLPENLIILCEPSVKSLCEGLE
KAIFQLKSGTL
PAPENIHNIVKTFYTWRNVAERTEKVYDRVSVEAVLPMDKRLDRLISHC
GPVTGYIFALLAVFNFLFLIFLRWMTPDSIIDVAIDATGPRGAWTNNYSHSKRGGENNEI
SETR
Sequence length 484
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
Metabolic pathways
  Synthesis of glycosylphosphatidylinositol (GPI)
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia, Hemolytic rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Aplastic anemia Aplastic Anemia rs113993991, rs113993993, rs864309668, rs121908974, rs199422265, rs199422270, rs104894176, rs104894180, rs28933973, rs104894182, rs28933376, rs771552960, rs786205093, rs193302876, rs113993992
View all (104 more)
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074
View all (25 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Unknown
Disease term Disease name Evidence References Source
Myocardial infarction Myocardial Infarction ClinVar
Infantile Spasms infantile spasms GenCC
Malignant migrating partial seizures of infancy malignant migrating partial seizures of infancy GenCC
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome multiple congenital anomalies-hypotonia-seizures syndrome 2 GenCC
Associations from Text Mining
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 10086790
Abruzzo Erickson syndrome Associate 29974678
Adenocarcinoma Associate 30914682, 37006185
Anemia Aplastic Associate 10086790, 10233366, 12424196, 22315493, 25800665, 26132940, 8541558, 8619404, 9163589
Barrett Esophagus Associate 30914682
Body Dysmorphic Disorders Associate 25885527
Bone Marrow Diseases Associate 12130519
Bone Marrow Failure Disorders Associate 11750098, 19118373, 19656154
Brain Diseases Associate 29656098
CD59 Deficiency Associate 10086790