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Protein

Phosphatidylinositol N-acetylglucosaminyltransferase subunit A

Gene

PIGA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Necessary for the synthesis of N-acetylglucosaminyl-phosphatidylinositol, the very early intermediate in GPI-anchor biosynthesis.

Catalytic activityi

UDP-N-acetyl-D-glucosamine + 1-phosphatidyl-1D-myo-inositol = UDP + 6-(N-acetyl-alpha-D-glucosaminyl)-1-phosphatidyl-1D-myo-inositol.

Pathwayi: glycosylphosphatidylinositol-anchor biosynthesis

This protein is involved in the pathway glycosylphosphatidylinositol-anchor biosynthesis, which is part of Glycolipid biosynthesis.
View all proteins of this organism that are known to be involved in the pathway glycosylphosphatidylinositol-anchor biosynthesis and in Glycolipid biosynthesis.

GO - Molecular functioni

GO - Biological processi

  • cellular response to leukemia inhibitory factor Source: Ensembl
  • GPI anchor biosynthetic process Source: HGNC
  • positive regulation of metabolic process Source: HGNC
  • preassembly of GPI anchor in ER membrane Source: Reactome

Keywordsi

Molecular functionGlycosyltransferase, Transferase
Biological processGPI-anchor biosynthesis

Enzyme and pathway databases

ReactomeiR-HSA-162710. Synthesis of glycosylphosphatidylinositol (GPI).
UniPathwayiUPA00196.

Protein family/group databases

CAZyiGT4. Glycosyltransferase Family 4.

Names & Taxonomyi

Protein namesi
Recommended name:
Phosphatidylinositol N-acetylglucosaminyltransferase subunit A (EC:2.4.1.198)
Alternative name(s):
GlcNAc-PI synthesis protein
Phosphatidylinositol-glycan biosynthesis class A protein
Short name:
PIG-A
Gene namesi
Name:PIGA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000165195.14.
HGNCiHGNC:8957. PIGA.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 421CytoplasmicCuratedAdd BLAST421
Transmembranei422 – 442HelicalSequence analysisAdd BLAST21
Topological domaini443 – 484LumenalCuratedAdd BLAST42

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Paroxysmal nocturnal hemoglobinuria 1 (PNH1)5 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:300818
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01544219R → W in PNH1. 1 PublicationCorresponds to variant dbSNP:rs34422225Ensembl.1
Natural variantiVAR_01543640D → H in PNH1. 1 Publication1
Natural variantiVAR_01543748G → A in PNH1. 1 Publication1
Natural variantiVAR_01543848G → D in PNH1. 1 Publication1
Natural variantiVAR_01543948G → V in PNH1. 1 Publication1
Natural variantiVAR_015440128H → R in PNH1. 1 Publication1
Natural variantiVAR_005531155S → F in PNH1. 1 Publication1
Natural variantiVAR_015441239G → R in PNH1. 1 Publication1
Natural variantiVAR_005532297N → D in PNH1. 1 Publication1
Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:300868
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07106977R → L in MCAHS2. 1 PublicationCorresponds to variant dbSNP:rs587777398Ensembl.1
Natural variantiVAR_07107093P → L in MCAHS2. 1 PublicationCorresponds to variant dbSNP:rs587777400Ensembl.1
Natural variantiVAR_071071119R → W in MCAHS2. 1 PublicationCorresponds to variant dbSNP:rs587777396Ensembl.1
Natural variantiVAR_071072206I → F in MCAHS2. 1 PublicationCorresponds to variant dbSNP:rs201119959Ensembl.1
Natural variantiVAR_071073344Missing in MCAHS2. 1 Publication1
Natural variantiVAR_078721355L → S in MCAHS2; unknown pathological significance. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi5277.
MalaCardsiPIGA.
MIMi300818. phenotype.
300868. phenotype.
OpenTargetsiENSG00000165195.
Orphaneti397922. Ferro-cerebro-cutaneous syndrome.
300496. Multiple congenital anomalies-hypotonia-seizures syndrome type 2.
447. Paroxysmal nocturnal hemoglobinuria.
3451. West syndrome.
PharmGKBiPA33288.

Polymorphism and mutation databases

BioMutaiPIGA.
DMDMi585696.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000803261 – 484Phosphatidylinositol N-acetylglucosaminyltransferase subunit AAdd BLAST484

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei21PhosphoserineCombined sources1
Modified residuei24PhosphoserineCombined sources1
Glycosylationi467N-linked (GlcNAc...) asparaginePROSITE-ProRule annotation1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiP37287.
MaxQBiP37287.
PaxDbiP37287.
PeptideAtlasiP37287.
PRIDEiP37287.

PTM databases

iPTMnetiP37287.
PhosphoSitePlusiP37287.

Expressioni

Gene expression databases

BgeeiENSG00000165195.
CleanExiHS_PIGA.
ExpressionAtlasiP37287. baseline and differential.
GenevisibleiP37287. HS.

Organism-specific databases

HPAiHPA001174.

Interactioni

Subunit structurei

Associates with PIGC, PIGH, PIGP, PIGQ and DPM2. The latter is not essential for activity. Interacts directly with PIGY.1 Publication

Protein-protein interaction databases

BioGridi111295. 34 interactors.
CORUMiP37287.
STRINGi9606.ENSP00000369820.

Structurei

3D structure databases

ProteinModelPortaliP37287.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1111. Eukaryota.
COG0438. LUCA.
GeneTreeiENSGT00390000014405.
HOGENOMiHOG000203293.
HOVERGENiHBG008198.
InParanoidiP37287.
KOiK03857.
OMAiSHTGREN.
OrthoDBiEOG091G060D.
PhylomeDBiP37287.
TreeFamiTF105675.

Family and domain databases

InterProiView protein in InterPro
IPR001296. Glyco_trans_1.
IPR013234. PIGA_GPI_anchor_biosynthesis.
PfamiView protein in Pfam
PF00534. Glycos_transf_1. 1 hit.
PF08288. PIGA. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P37287-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:484
Mass (Da):54,127
Last modified:October 1, 1994 - v1
Checksum:i34DCD074A3920852
GO
Isoform 2 (identifier: P37287-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     115-283: Missing.

Show »
Length:315
Mass (Da):35,078
Checksum:i3F443EA94F271865
GO
Isoform 3 (identifier: P37287-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-4: MACR → MELT
     5-238: Missing.

Note: No experimental confirmation available.
Show »
Length:250
Mass (Da):28,034
Checksum:i78823EE49BCD9AF6
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01544219R → W in PNH1. 1 PublicationCorresponds to variant dbSNP:rs34422225Ensembl.1
Natural variantiVAR_01543640D → H in PNH1. 1 Publication1
Natural variantiVAR_01543748G → A in PNH1. 1 Publication1
Natural variantiVAR_01543848G → D in PNH1. 1 Publication1
Natural variantiVAR_01543948G → V in PNH1. 1 Publication1
Natural variantiVAR_07106977R → L in MCAHS2. 1 PublicationCorresponds to variant dbSNP:rs587777398Ensembl.1
Natural variantiVAR_07107093P → L in MCAHS2. 1 PublicationCorresponds to variant dbSNP:rs587777400Ensembl.1
Natural variantiVAR_071071119R → W in MCAHS2. 1 PublicationCorresponds to variant dbSNP:rs587777396Ensembl.1
Natural variantiVAR_015440128H → R in PNH1. 1 Publication1
Natural variantiVAR_078230135A → V Probable disease-associated mutation found in a patient with infantile onset epileptic encephalopathy with dyskinesia and microcephaly. 1 Publication1
Natural variantiVAR_005531155S → F in PNH1. 1 Publication1
Natural variantiVAR_071072206I → F in MCAHS2. 1 PublicationCorresponds to variant dbSNP:rs201119959Ensembl.1
Natural variantiVAR_015441239G → R in PNH1. 1 Publication1
Natural variantiVAR_005532297N → D in PNH1. 1 Publication1
Natural variantiVAR_071073344Missing in MCAHS2. 1 Publication1
Natural variantiVAR_078721355L → S in MCAHS2; unknown pathological significance. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0433661 – 4MACR → MELT in isoform 3. 1 Publication4
Alternative sequenceiVSP_0433675 – 238Missing in isoform 3. 1 PublicationAdd BLAST234
Alternative sequenceiVSP_001802115 – 283Missing in isoform 2. 1 PublicationAdd BLAST169

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.
CCDSiCCDS14165.1. [P37287-1]
CCDS48086.2. [P37287-3]
PIRiA46217.
RefSeqiNP_002632.1. NM_002641.3. [P37287-1]
NP_065206.3. NM_020473.3. [P37287-3]
XP_016885070.1. XM_017029581.1. [P37287-1]
UniGeneiHs.137154.

Genome annotation databases

EnsembliENST00000333590; ENSP00000369820; ENSG00000165195. [P37287-1]
ENST00000482148; ENSP00000489528; ENSG00000165195. [P37287-2]
ENST00000542278; ENSP00000442653; ENSG00000165195. [P37287-1]
ENST00000634582; ENSP00000489540; ENSG00000165195. [P37287-3]
GeneIDi5277.
KEGGihsa:5277.
UCSCiuc004cwr.4. human. [P37287-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiPIGA_HUMAN
AccessioniPrimary (citable) accession number: P37287
Secondary accession number(s): B4E0V2, Q16025, Q16250
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1994
Last sequence update: October 1, 1994
Last modified: September 27, 2017
This is version 164 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families