UniProtKB - P37287 (PIGA_HUMAN)
Phosphatidylinositol N-acetylglucosaminyltransferase subunit A
PIGA
Functioni
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.
1 PublicationCatalytic activityi
- a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + UDP-N-acetyl-α-D-glucosamine = a 6-(N-acetyl-α-D-glucosaminyl)-1-phosphatidyl-1D-myo-inositol + H+ + UDP1 PublicationEC:2.4.1.1981 PublicationThis reaction proceeds in the forward1 Publication direction.
: glycosylphosphatidylinositol-anchor biosynthesis Pathwayi
This protein is involved in the pathway glycosylphosphatidylinositol-anchor biosynthesis, which is part of Glycolipid biosynthesis.1 PublicationView all proteins of this organism that are known to be involved in the pathway glycosylphosphatidylinositol-anchor biosynthesis and in Glycolipid biosynthesis.
GO - Molecular functioni
- phosphatidylinositol N-acetylglucosaminyltransferase activity Source: GO_Central
- UDP-glycosyltransferase activity Source: Reactome
GO - Biological processi
- cellular response to leukemia inhibitory factor Source: Ensembl
- GPI anchor biosynthetic process Source: GO_Central
- preassembly of GPI anchor in ER membrane Source: Reactome
Keywordsi
Molecular function | Glycosyltransferase, Transferase |
Biological process | GPI-anchor biosynthesis, Lipid metabolism |
Enzyme and pathway databases
PathwayCommonsi | P37287 |
Reactomei | R-HSA-162710, Synthesis of glycosylphosphatidylinositol (GPI) |
SignaLinki | P37287 |
UniPathwayi | UPA00196 |
Protein family/group databases
CAZyi | GT4, Glycosyltransferase Family 4 |
Names & Taxonomyi
Protein namesi | Recommended name: Phosphatidylinositol N-acetylglucosaminyltransferase subunit ACurated (EC:2.4.1.1981 Publication)Alternative name(s): GlcNAc-PI synthesis protein Phosphatidylinositol-glycan biosynthesis class A protein Short name: PIG-A |
Gene namesi | Name:PIGAImported |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:8957, PIGA |
MIMi | 311770, gene |
neXtProti | NX_P37287 |
VEuPathDBi | HostDB:ENSG00000165195 |
Subcellular locationi
Endoplasmic reticulum
Endoplasmic reticulum
- endoplasmic reticulum membrane Source: HGNC-UCL
- glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex Source: HGNC-UCL
Other locations
- integral component of membrane Source: UniProtKB-KW
- membrane Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 421 | CytoplasmicCuratedAdd BLAST | 421 | |
Transmembranei | 422 – 442 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 443 – 484 | LumenalCuratedAdd BLAST | 42 |
Keywords - Cellular componenti
Endoplasmic reticulum, MembranePathology & Biotechi
Involvement in diseasei
Paroxysmal nocturnal hemoglobinuria 1 (PNH1)5 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_015442 | 19 | R → W in PNH1. 1 PublicationCorresponds to variant dbSNP:rs34422225EnsemblClinVar. | 1 | |
Natural variantiVAR_015436 | 40 | D → H in PNH1. 1 Publication | 1 | |
Natural variantiVAR_015437 | 48 | G → A in PNH1. 1 Publication | 1 | |
Natural variantiVAR_015438 | 48 | G → D in PNH1. 1 Publication | 1 | |
Natural variantiVAR_015439 | 48 | G → V in PNH1. 1 Publication | 1 | |
Natural variantiVAR_015440 | 128 | H → R in PNH1. 1 Publication | 1 | |
Natural variantiVAR_005531 | 155 | S → F in PNH1. 1 Publication | 1 | |
Natural variantiVAR_015441 | 239 | G → R in PNH1. 1 Publication | 1 | |
Natural variantiVAR_005532 | 297 | N → D in PNH1. 1 Publication | 1 |
Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)5 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_071069 | 77 | R → L in MCAHS2. 1 PublicationCorresponds to variant dbSNP:rs587777398EnsemblClinVar. | 1 | |
Natural variantiVAR_071070 | 93 | P → L in MCAHS2. 1 PublicationCorresponds to variant dbSNP:rs587777400EnsemblClinVar. | 1 | |
Natural variantiVAR_071071 | 119 | R → W in MCAHS2. 1 PublicationCorresponds to variant dbSNP:rs587777396EnsemblClinVar. | 1 | |
Natural variantiVAR_071072 | 206 | I → F in MCAHS2. 1 PublicationCorresponds to variant dbSNP:rs201119959EnsemblClinVar. | 1 | |
Natural variantiVAR_071073 | 344 | Missing in MCAHS2. 1 Publication | 1 | |
Natural variantiVAR_078721 | 355 | L → S in MCAHS2; unknown pathological significance. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, EpilepsyOrganism-specific databases
DisGeNETi | 5277 |
MalaCardsi | PIGA |
MIMi | 300818, phenotype 300868, phenotype |
OpenTargetsi | ENSG00000165195 |
Orphaneti | 397922, Ferro-cerebro-cutaneous syndrome 3451, Infantile spasms syndrome 293181, Malignant migrating focal seizures of infancy 300496, Multiple congenital anomalies-hypotonia-seizures syndrome type 2 447, Paroxysmal nocturnal hemoglobinuria |
PharmGKBi | PA33288 |
Miscellaneous databases
Pharosi | P37287, Tbio |
Genetic variation databases
BioMutai | PIGA |
DMDMi | 585696 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000080326 | 1 – 484 | Phosphatidylinositol N-acetylglucosaminyltransferase subunit AAdd BLAST | 484 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 21 | PhosphoserineCombined sources | 1 | |
Modified residuei | 24 | PhosphoserineCombined sources | 1 | |
Glycosylationi | 467 | N-linked (GlcNAc...) asparaginePROSITE-ProRule annotation | 1 |
Keywords - PTMi
Glycoprotein, PhosphoproteinProteomic databases
EPDi | P37287 |
jPOSTi | P37287 |
MassIVEi | P37287 |
MaxQBi | P37287 |
PaxDbi | P37287 |
PeptideAtlasi | P37287 |
PRIDEi | P37287 |
ProteomicsDBi | 55273 [P37287-1] 55274 [P37287-2] 55275 [P37287-3] |
PTM databases
GlyGeni | P37287, 1 site |
iPTMneti | P37287 |
PhosphoSitePlusi | P37287 |
Expressioni
Gene expression databases
Bgeei | ENSG00000165195, Expressed in bone marrow and 227 other tissues |
ExpressionAtlasi | P37287, baseline and differential |
Genevisiblei | P37287, HS |
Organism-specific databases
HPAi | ENSG00000165195, Low tissue specificity |
Interactioni
Subunit structurei
Component of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex composed at least by PIGA, PIGC, PIGH, PIGP, PIGQ, PIGY and DPM2 (PubMed:16162815, PubMed:9463366).
Interacts with PIGC, PIGH, PIGP, PIGQ and DPM2 (PubMed:16162815).
Interacts directly with PIGY; this interaction regulates glycosylphosphatidylinositol-N-acetylglucosaminyltransferase activity (PubMed:16162815).
Interacts with PIGQ (PubMed:9463366).
2 PublicationsBinary interactionsi
P37287
Protein-protein interaction databases
BioGRIDi | 111295, 46 interactors |
CORUMi | P37287 |
IntActi | P37287, 27 interactors |
STRINGi | 9606.ENSP00000369820 |
Miscellaneous databases
RNActi | P37287, protein |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG1111, Eukaryota |
GeneTreei | ENSGT00390000014405 |
HOGENOMi | CLU_009583_19_3_1 |
InParanoidi | P37287 |
OMAi | FFCPNAG |
PhylomeDBi | P37287 |
TreeFami | TF105675 |
Family and domain databases
CDDi | cd03796, GT4_PIG-A-like, 1 hit |
InterProi | View protein in InterPro IPR001296, Glyco_trans_1 IPR039507, PIG-A/GPI3 IPR013234, PIGA_GPI_anchor_biosynthesis |
Pfami | View protein in Pfam PF00534, Glycos_transf_1, 1 hit PF08288, PIGA, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MACRGGAGNG HRASATLSRV SPGSLYTCRT RTHNICMVSD FFYPNMGGVE
60 70 80 90 100
SHIYQLSQCL IERGHKVIIV THAYGNRKGI RYLTSGLKVY YLPLKVMYNQ
110 120 130 140 150
STATTLFHSL PLLRYIFVRE RVTIIHSHSS FSAMAHDALF HAKTMGLQTV
160 170 180 190 200
FTDHSLFGFA DVSSVLTNKL LTVSLCDTNH IICVSYTSKE NTVLRAALNP
210 220 230 240 250
EIVSVIPNAV DPTDFTPDPF RRHDSITIVV VSRLVYRKGI DLLSGIIPEL
260 270 280 290 300
CQKYPDLNFI IGGEGPKRII LEEVRERYQL HDRVRLLGAL EHKDVRNVLV
310 320 330 340 350
QGHIFLNTSL TEAFCMAIVE AASCGLQVVS TRVGGIPEVL PENLIILCEP
360 370 380 390 400
SVKSLCEGLE KAIFQLKSGT LPAPENIHNI VKTFYTWRNV AERTEKVYDR
410 420 430 440 450
VSVEAVLPMD KRLDRLISHC GPVTGYIFAL LAVFNFLFLI FLRWMTPDSI
460 470 480
IDVAIDATGP RGAWTNNYSH SKRGGENNEI SETR
Computationally mapped potential isoform sequencesi
There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketB3KUV7 | B3KUV7_HUMAN | Phosphatidylinositol N-acetylglucos... | PIGA hCG_1783055 | 169 | Annotation score: | ||
A0A0U1RQM9 | A0A0U1RQM9_HUMAN | Phosphatidylinositol N-acetylglucos... | PIGA | 150 | Annotation score: | ||
A0A0U1RQW8 | A0A0U1RQW8_HUMAN | Phosphatidylinositol N-acetylglucos... | PIGA | 152 | Annotation score: | ||
A0A0U1RRE8 | A0A0U1RRE8_HUMAN | Phosphatidylinositol N-acetylglucos... | PIGA | 99 | Annotation score: | ||
A0A1B0GU19 | A0A1B0GU19_HUMAN | Phosphatidylinositol N-acetylglucos... | PIGA | 274 | Annotation score: | ||
A8K382 | A8K382_HUMAN | Phosphatidylinositol N-acetylglucos... | PIGA | 118 | Annotation score: | ||
A0A0U1RQF5 | A0A0U1RQF5_HUMAN | Phosphatidylinositol N-acetylglucos... | PIGA | 51 | Annotation score: | ||
A0A1B0GVE5 | A0A1B0GVE5_HUMAN | Phosphatidylinositol N-acetylglucos... | PIGA | 44 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_015442 | 19 | R → W in PNH1. 1 PublicationCorresponds to variant dbSNP:rs34422225EnsemblClinVar. | 1 | |
Natural variantiVAR_015436 | 40 | D → H in PNH1. 1 Publication | 1 | |
Natural variantiVAR_015437 | 48 | G → A in PNH1. 1 Publication | 1 | |
Natural variantiVAR_015438 | 48 | G → D in PNH1. 1 Publication | 1 | |
Natural variantiVAR_015439 | 48 | G → V in PNH1. 1 Publication | 1 | |
Natural variantiVAR_071069 | 77 | R → L in MCAHS2. 1 PublicationCorresponds to variant dbSNP:rs587777398EnsemblClinVar. | 1 | |
Natural variantiVAR_071070 | 93 | P → L in MCAHS2. 1 PublicationCorresponds to variant dbSNP:rs587777400EnsemblClinVar. | 1 | |
Natural variantiVAR_071071 | 119 | R → W in MCAHS2. 1 PublicationCorresponds to variant dbSNP:rs587777396EnsemblClinVar. | 1 | |
Natural variantiVAR_015440 | 128 | H → R in PNH1. 1 Publication | 1 | |
Natural variantiVAR_078230 | 135 | A → V Probable disease-associated variant found in a patient with infantile onset epileptic encephalopathy with dyskinesia and microcephaly. 1 Publication | 1 | |
Natural variantiVAR_005531 | 155 | S → F in PNH1. 1 Publication | 1 | |
Natural variantiVAR_071072 | 206 | I → F in MCAHS2. 1 PublicationCorresponds to variant dbSNP:rs201119959EnsemblClinVar. | 1 | |
Natural variantiVAR_015441 | 239 | G → R in PNH1. 1 Publication | 1 | |
Natural variantiVAR_005532 | 297 | N → D in PNH1. 1 Publication | 1 | |
Natural variantiVAR_071073 | 344 | Missing in MCAHS2. 1 Publication | 1 | |
Natural variantiVAR_078721 | 355 | L → S in MCAHS2; unknown pathological significance. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_043366 | 1 – 4 | MACR → MELT in isoform 3. 1 Publication | 4 | |
Alternative sequenceiVSP_043367 | 5 – 238 | Missing in isoform 3. 1 PublicationAdd BLAST | 234 | |
Alternative sequenceiVSP_001802 | 115 – 283 | Missing in isoform 2. 1 PublicationAdd BLAST | 169 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | D11466 mRNA Translation: BAA02019.1 X77725 , X77726, X77727, X77728 Genomic DNA Translation: CAB57276.1 Sequence problems. D28791 Genomic DNA Translation: BAA05966.1 S74936 mRNA Translation: AAD14160.1 AK303538 mRNA Translation: BAG64564.1 AC095351 Genomic DNA No translation available. BC038236 mRNA Translation: AAH38236.1 S61523 mRNA Translation: AAD13929.1 |
CCDSi | CCDS14165.1 [P37287-1] CCDS48086.2 [P37287-3] |
PIRi | A46217 |
RefSeqi | NP_002632.1, NM_002641.3 [P37287-1] NP_065206.3, NM_020473.3 [P37287-3] XP_016885070.1, XM_017029581.1 |
Genome annotation databases
Ensembli | ENST00000333590.6; ENSP00000369820.3; ENSG00000165195.16 ENST00000482148.6; ENSP00000489528.1; ENSG00000165195.16 [P37287-2] ENST00000542278.6; ENSP00000442653.2; ENSG00000165195.16 ENST00000634582.1; ENSP00000489540.1; ENSG00000165195.16 [P37287-3] |
GeneIDi | 5277 |
KEGGi | hsa:5277 |
MANE-Selecti | ENST00000333590.6; ENSP00000369820.3; NM_002641.4; NP_002632.1 |
UCSCi | uc004cwr.4, human [P37287-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
Functional Glycomics Gateway - GTase Phosphatidylinositol N-acetylglucosaminyltransferase subunit A |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | D11466 mRNA Translation: BAA02019.1 X77725 , X77726, X77727, X77728 Genomic DNA Translation: CAB57276.1 Sequence problems. D28791 Genomic DNA Translation: BAA05966.1 S74936 mRNA Translation: AAD14160.1 AK303538 mRNA Translation: BAG64564.1 AC095351 Genomic DNA No translation available. BC038236 mRNA Translation: AAH38236.1 S61523 mRNA Translation: AAD13929.1 |
CCDSi | CCDS14165.1 [P37287-1] CCDS48086.2 [P37287-3] |
PIRi | A46217 |
RefSeqi | NP_002632.1, NM_002641.3 [P37287-1] NP_065206.3, NM_020473.3 [P37287-3] XP_016885070.1, XM_017029581.1 |
3D structure databases
AlphaFoldDBi | P37287 |
SMRi | P37287 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 111295, 46 interactors |
CORUMi | P37287 |
IntActi | P37287, 27 interactors |
STRINGi | 9606.ENSP00000369820 |
Protein family/group databases
CAZyi | GT4, Glycosyltransferase Family 4 |
PTM databases
GlyGeni | P37287, 1 site |
iPTMneti | P37287 |
PhosphoSitePlusi | P37287 |
Genetic variation databases
BioMutai | PIGA |
DMDMi | 585696 |
Proteomic databases
EPDi | P37287 |
jPOSTi | P37287 |
MassIVEi | P37287 |
MaxQBi | P37287 |
PaxDbi | P37287 |
PeptideAtlasi | P37287 |
PRIDEi | P37287 |
ProteomicsDBi | 55273 [P37287-1] 55274 [P37287-2] 55275 [P37287-3] |
Protocols and materials databases
Antibodypediai | 23929, 211 antibodies from 29 providers |
DNASUi | 5277 |
Genome annotation databases
Ensembli | ENST00000333590.6; ENSP00000369820.3; ENSG00000165195.16 ENST00000482148.6; ENSP00000489528.1; ENSG00000165195.16 [P37287-2] ENST00000542278.6; ENSP00000442653.2; ENSG00000165195.16 ENST00000634582.1; ENSP00000489540.1; ENSG00000165195.16 [P37287-3] |
GeneIDi | 5277 |
KEGGi | hsa:5277 |
MANE-Selecti | ENST00000333590.6; ENSP00000369820.3; NM_002641.4; NP_002632.1 |
UCSCi | uc004cwr.4, human [P37287-1] |
Organism-specific databases
CTDi | 5277 |
DisGeNETi | 5277 |
GeneCardsi | PIGA |
HGNCi | HGNC:8957, PIGA |
HPAi | ENSG00000165195, Low tissue specificity |
MalaCardsi | PIGA |
MIMi | 300818, phenotype 300868, phenotype 311770, gene |
neXtProti | NX_P37287 |
OpenTargetsi | ENSG00000165195 |
Orphaneti | 397922, Ferro-cerebro-cutaneous syndrome 3451, Infantile spasms syndrome 293181, Malignant migrating focal seizures of infancy 300496, Multiple congenital anomalies-hypotonia-seizures syndrome type 2 447, Paroxysmal nocturnal hemoglobinuria |
PharmGKBi | PA33288 |
VEuPathDBi | HostDB:ENSG00000165195 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1111, Eukaryota |
GeneTreei | ENSGT00390000014405 |
HOGENOMi | CLU_009583_19_3_1 |
InParanoidi | P37287 |
OMAi | FFCPNAG |
PhylomeDBi | P37287 |
TreeFami | TF105675 |
Enzyme and pathway databases
UniPathwayi | UPA00196 |
PathwayCommonsi | P37287 |
Reactomei | R-HSA-162710, Synthesis of glycosylphosphatidylinositol (GPI) |
SignaLinki | P37287 |
Miscellaneous databases
BioGRID-ORCSi | 5277, 18 hits in 705 CRISPR screens |
GeneWikii | PIGA |
GenomeRNAii | 5277 |
Pharosi | P37287, Tbio |
PROi | PR:P37287 |
RNActi | P37287, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000165195, Expressed in bone marrow and 227 other tissues |
ExpressionAtlasi | P37287, baseline and differential |
Genevisiblei | P37287, HS |
Family and domain databases
CDDi | cd03796, GT4_PIG-A-like, 1 hit |
InterProi | View protein in InterPro IPR001296, Glyco_trans_1 IPR039507, PIG-A/GPI3 IPR013234, PIGA_GPI_anchor_biosynthesis |
Pfami | View protein in Pfam PF00534, Glycos_transf_1, 1 hit PF08288, PIGA, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | PIGA_HUMAN | |
Accessioni | P37287Primary (citable) accession number: P37287 Secondary accession number(s): B4E0V2, Q16025, Q16250 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1994 |
Last sequence update: | October 1, 1994 | |
Last modified: | May 25, 2022 | |
This is version 190 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - SIMILARITY comments
Index of protein domains and families