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Aliases for PIGA Gene

Aliases for PIGA Gene

  • Phosphatidylinositol Glycan Anchor Biosynthesis Class A 2 3 5
  • EC 2.4.1.198 4 63
  • PIG-A 3 4
  • Phosphatidylinositol Glycan, Class A (Paroxysmal Nocturnal Hemoglobinuria) 2
  • Phosphatidylinositol-Glycan Biosynthesis, Class A Protein 3
  • Phosphatidylinositol Glycan Anchor Biosynthesis, Class A 3
  • Phosphatidylinositol-Glycan Biosynthesis Class A Protein 4
  • Class A GlcNAc-Inositol Phospholipid Assembly Protein 3
  • Phosphatidylinositol N-Acetylglucosaminyltransferase 2
  • Paroxysmal Nocturnal Hemoglobinuria 2
  • GLCNAC-PI Synthesis Protein 3
  • GlcNAc-PI Synthesis Protein 4
  • GPI Anchor Biosynthesis 3
  • MCAHS2 3
  • GPI3 3
  • PNH1 3

External Ids for PIGA Gene

Previous GeneCards Identifiers for PIGA Gene

  • GC0XM014782
  • GC0XM014163
  • GC0XM014539
  • GC0XM014699
  • GC0XM015097
  • GC0XM015247
  • GC0XM013097
  • GC0XM015337

Summaries for PIGA Gene

Entrez Gene Summary for PIGA 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 anchor proteins to the cell surface. Paroxysmal nocturnal hemoglobinuria, an acquired hematologic disorder, has been shown to result from mutations in this gene. Alternate splice variants have been characterized. A related pseudogene is located on chromosome 12. [provided by RefSeq, Jun 2010]

GeneCards Summary for PIGA Gene

PIGA (Phosphatidylinositol Glycan Anchor Biosynthesis Class A) is a Protein Coding gene. Diseases associated with PIGA include Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 and Paroxysmal Nocturnal Hemoglobinuria, Somatic. Among its related pathways are Post-translational modification- synthesis of GPI-anchored proteins and Metabolism. GO annotations related to this gene include phosphatidylinositol N-acetylglucosaminyltransferase activity and UDP-glycosyltransferase activity.

UniProtKB/Swiss-Prot for PIGA Gene

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

Gene Wiki entry for PIGA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIGA Gene

Genomics for PIGA Gene

Regulatory Elements for PIGA Gene

Enhancers for PIGA Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PIGA on UCSC Golden Path with GeneCards custom track

Promoters for PIGA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PIGA on UCSC Golden Path with GeneCards custom track

Genomic Location for PIGA Gene

Chromosome:
X
Start:
15,319,451 bp from pter
End:
15,335,580 bp from pter
Size:
16,130 bases
Orientation:
Minus strand

Genomic View for PIGA Gene

Genes around PIGA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PIGA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PIGA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIGA Gene

Proteins for PIGA Gene

  • Protein details for PIGA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P37287-PIGA_HUMAN
    Recommended name:
    Phosphatidylinositol N-acetylglucosaminyltransferase subunit A
    Protein Accession:
    P37287
    Secondary Accessions:
    • B4E0V2
    • Q16025
    • Q16250

    Protein attributes for PIGA Gene

    Size:
    484 amino acids
    Molecular mass:
    54127 Da
    Quaternary structure:
    • Associates with PIGC, PIGH, PIGP, PIGQ and DPM2. The latter is not essential for activity. Interacts directly with PIGY.

    Alternative splice isoforms for PIGA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIGA Gene

Proteomics data for PIGA Gene at MOPED

Selected DME Specific Peptides for PIGA Gene

Post-translational modifications for PIGA Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for PIGA Gene

Protein Domains for PIGA Gene

Graphical View of Domain Structure for InterPro Entry

P37287

UniProtKB/Swiss-Prot:

PIGA_HUMAN :
  • Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily.
Family:
  • Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily.
genes like me logo Genes that share domains with PIGA: view

Function for PIGA Gene

Molecular function for PIGA Gene

GENATLAS Biochemistry:
glycosyl-phosphatidylinositol (GPI),54kDa,anchor synthesis,class A,putatively involved in apoptosis regulation
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-D-glucosamine + 1-phosphatidyl-1D-myo-inositol = UDP + 6-(N-acetyl-alpha-D-glucosaminyl)-1-phosphatidyl-1D-myo-inositol.
UniProtKB/Swiss-Prot Function:
Necessary for the synthesis of N-acetylglucosaminyl-phosphatidylinositol, the very early intermediate in GPI-anchor biosynthesis.

Enzyme Numbers (IUBMB) for PIGA Gene

genes like me logo Genes that share phenotypes with PIGA: view

Human Phenotype Ontology for PIGA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PIGA Gene

MGI Knock Outs for PIGA:

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for PIGA Gene

Localization for PIGA Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIGA Gene

Endoplasmic reticulum membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PIGA Gene COMPARTMENTS Subcellular localization image for PIGA gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 2
endosome 2
mitochondrion 2
plasma membrane 2
extracellular 1
golgi apparatus 1
lysosome 1
nucleus 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for PIGA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PIGA: view

Pathways & Interactions for PIGA Gene

genes like me logo Genes that share pathways with PIGA: view

UniProtKB/Swiss-Prot P37287-PIGA_HUMAN

  • Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.

Gene Ontology (GO) - Biological Process for PIGA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016254 preassembly of GPI anchor in ER membrane TAS --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with PIGA: view

No data available for SIGNOR curated interactions for PIGA Gene

Drugs & Compounds for PIGA Gene

(6) Drugs for PIGA Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sphingosine Experimental Pharma 0
Uridine-5'-Diphosphate Experimental Pharma 0
sphinganine Pharma 0
Sphingosine-1-phosphate Pharma Full agonist, Agonist Endogenous agonist at S1P1-5 0

(848) Additional Compounds for PIGA Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Dehydrosphinganine
  • (2S)-2-amino-1-hydroxyoctadecan-3-one
  • 1-Hydroxy-2-amino-3-oxo-octadecane
  • 2-Amino-1-hydroxy-3-Octadecanone
  • 3-Dehydro-D-sphinganine
  • 3-Dehydrosphinganine
16105-69-4
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
244215-65-4
genes like me logo Genes that share compounds with PIGA: view

Transcripts for PIGA Gene

Unigene Clusters for PIGA Gene

Phosphatidylinositol glycan anchor biosynthesis, class A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PIGA Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b
SP1: - - - -
SP2: - -
SP3: - - -
SP4: - - - -
SP5: -
SP6: - - -

Relevant External Links for PIGA Gene

GeneLoc Exon Structure for
PIGA
ECgene alternative splicing isoforms for
PIGA

Expression for PIGA Gene

mRNA expression in normal human tissues for PIGA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PIGA Gene

This gene is overexpressed in Serum (55.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PIGA Gene



SOURCE GeneReport for Unigene cluster for PIGA Gene Hs.137154

genes like me logo Genes that share expression patterns with PIGA: view

Protein tissue co-expression partners for PIGA Gene

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PIGA Gene

Orthologs for PIGA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PIGA Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PIGA 35
  • 91.8 (n)
  • 93.18 (a)
PIGA 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PIGA 35
  • 91.67 (n)
  • 93.18 (a)
PIGA 36
  • 36 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Piga 35
  • 87.81 (n)
  • 87.81 (a)
Piga 16
Piga 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PIGA 35
  • 99.79 (n)
  • 99.79 (a)
PIGA 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Piga 35
  • 85.75 (n)
  • 86.69 (a)
oppossum
(Monodelphis domestica)
Mammalia PIGA 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PIGA 36
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIGA 35
  • 78.68 (n)
  • 89.41 (a)
PIGA 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PIGA 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia piga 35
  • 74.27 (n)
  • 82.89 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16573 35
zebrafish
(Danio rerio)
Actinopterygii piga 35
  • 69.88 (n)
  • 79.37 (a)
zgc56589 35
piga 36
  • 73 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG6401 37
  • 64 (a)
CG6401 35
  • 56.17 (n)
  • 56.01 (a)
CG6401 36
  • 48 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011274 35
  • 60.16 (n)
  • 66.77 (a)
worm
(Caenorhabditis elegans)
Secernentea D2085.6 37
  • 52 (a)
piga-1 35
  • 56.6 (n)
  • 54.33 (a)
piga-1 36
  • 51 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL108C 35
  • 51.4 (n)
  • 49.16 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C09713g 35
  • 55.16 (n)
  • 48.1 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SPT14 35
  • 53.38 (n)
  • 46.78 (a)
SPT14 36
  • 44 (a)
OneToOne
SPT14 38
thale cress
(Arabidopsis thaliana)
eudicotyledons SETH2 35
  • 57.29 (n)
  • 55.05 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.4393 35
wheat
(Triticum aestivum)
Liliopsida Ta.10118 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5861 35
bread mold
(Neurospora crassa)
Ascomycetes NCU09757 35
  • 51.93 (n)
  • 52.22 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gpi3 35
  • 56.54 (n)
  • 52.87 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 54 (a)
OneToOne
Species with no ortholog for PIGA:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for PIGA Gene

ENSEMBL:
Gene Tree for PIGA (if available)
TreeFam:
Gene Tree for PIGA (if available)

Paralogs for PIGA Gene

Pseudogenes.org Pseudogenes for PIGA Gene

genes like me logo Genes that share paralogs with PIGA: view

No data available for Paralogs for PIGA Gene

Variants for PIGA Gene

Sequence variations from dbSNP and Humsavar for PIGA Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_005531 Paroxysmal nocturnal hemoglobinuria 1 (PNH1)
VAR_005532 Paroxysmal nocturnal hemoglobinuria 1 (PNH1)
VAR_015436 Paroxysmal nocturnal hemoglobinuria 1 (PNH1)
VAR_015437 Paroxysmal nocturnal hemoglobinuria 1 (PNH1)
VAR_015438 Paroxysmal nocturnal hemoglobinuria 1 (PNH1)

Structural Variations from Database of Genomic Variants (DGV) for PIGA Gene

Variant ID Type Subtype PubMed ID
nsv528343 CNV Gain 19592680
nsv522729 CNV Gain 19592680
nsv517938 CNV Gain 19592680

Variation tolerance for PIGA Gene

Residual Variation Intolerance Score: 19.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.87; 35.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PIGA Gene

Human Gene Mutation Database (HGMD)
PIGA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIGA Gene

Disorders for PIGA Gene

MalaCards: The human disease database

(11) MalaCards diseases for PIGA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
multiple congenital anomalies-hypotonia-seizures syndrome 2
  • multiple congenital anomalies-hypotonia-seizures syndrome type 2
paroxysmal nocturnal hemoglobinuria, somatic
  • paroxysmal nocturnal hemoglobinuria 1
paroxysmal nocturnal hemoglobinuria
  • marchiafava-micheli disease
ferro-cerebro-cutaneous syndrome
  • cerebro-cutaneous syndrome with iron overload
west syndrome
  • epileptic encephalopathy, early infantile, 1
- elite association - COSMIC cancer census association via MalaCards
Search PIGA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PIGA_HUMAN
  • 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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 variations affecting the gene represented in this entry.

Relevant External Links for PIGA

Genetic Association Database (GAD)
PIGA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PIGA
genes like me logo Genes that share disorders with PIGA: view

No data available for Genatlas for PIGA Gene

Publications for PIGA Gene

  1. Deficiency of the GPI anchor caused by a somatic mutation of the PIG- A gene in paroxysmal nocturnal hemoglobinuria. (PMID: 8500164) Takeda J. … Kinoshita T. (Cell 1993) 2 3 4 23 67
  2. A quantitative analysis of genomic instability in lymphoid and plasma cell neoplasms based on the PIG-A gene. (PMID: 20060400) Araten D.J. … Sanders K.J. (Mutat. Res. 2010) 3 23
  3. Glycosylphosphatidylinositol-anchored protein deficiency confers resistance to apoptosis in PNH. (PMID: 19013003) Savage W.J. … Brodsky R.A. (Exp. Hematol. 2009) 3 23
  4. Gene targeting of a disease-related gene in human induced pluripotent stem and embryonic stem cells. (PMID: 19540188) Zou J. … Cheng L. (Cell Stem Cell 2009) 3 23
  5. On the origin of multiple mutant clones in paroxysmal nocturnal hemoglobinuria. (PMID: 17823237) Traulsen A. … Dingli D. (Stem Cells 2007) 3 23

Products for PIGA Gene

Sources for PIGA Gene

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