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Aliases for PIGA Gene

Aliases for PIGA Gene

  • Phosphatidylinositol Glycan Anchor Biosynthesis, Class A 2 3
  • EC 2.4.1.198 4 63
  • MCAHS2 3 6
  • PIG-A 3 4
  • Phosphatidylinositol Glycan, Class A (Paroxysmal Nocturnal Hemoglobinuria) 2
  • Phosphatidylinositol N-Acetylglucosaminyltransferase Subunit A 3
  • Phosphatidylinositol-Glycan Biosynthesis, Class A Protein 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
  • 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 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PIGA Gene

Start:
15,319,451 bp from pter
End:
15,335,554 bp from pter
Size:
16,104 bases
Orientation:
Minus strand

Genomic View for PIGA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Other Protein References for PIGA Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for PIGA Gene

Gene Families for PIGA Gene

HGNC:
  • GLT1 :Glycosyltransferase group 1 domain containing
  • PIG :Phosphatidylinositol glycan anchor biosynthesis

Protein Domains for PIGA Gene

Graphical View of Domain Structure for InterPro Entry

P37287

UniProtKB/Swiss-Prot:

PIGA_HUMAN :
  • P37287
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

Gene Ontology (GO) - Molecular Function for PIGA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16162815
GO:0008194 UDP-glycosyltransferase activity TAS --
GO:0017176 phosphatidylinositol N-acetylglucosaminyltransferase activity TAS 16162815
genes like me logo Genes that share ontologies with PIGA: view
genes like me logo Genes that share phenotypes with PIGA: view

Animal Models for PIGA Gene

MGI Knock Outs for PIGA:

Animal Model Products

miRNA for PIGA Gene

miRTarBase miRNAs that target PIGA

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PIGA

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting 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
plasma membrane 3
mitochondrion 2
cytosol 1
endosome 1
extracellular 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PIGA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000506 glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex IDA 16162815
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PIGA: view

Pathways 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:0006501 C-terminal protein lipidation TAS --
GO:0006506 GPI anchor biosynthetic process TAS 16162815
GO:0009058 biosynthetic process --
GO:0009893 positive regulation of metabolic process TAS 16162815
GO:0016254 preassembly of GPI anchor in ER membrane TAS --
genes like me logo Genes that share ontologies with PIGA: view

Compounds for PIGA Gene

(901) HMDB Compounds for PIGA Gene

Compound Synonyms Cas Number PubMed IDs
3-Dehydrosphinganine
  • 1-Hydroxy-2-amino-3-oxo-octadecane
16105-69-4
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • Sulfatide (d18:1/12:0)
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • Sulfatide (d18:1/14:0)
Not Available
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • Sulfatide (d18:1/16:0)
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • Sulfatide (d18:1/18:0)
244215-65-4

(7) Novoseek inferred chemical compound relationships for PIGA Gene

Compound -log(P) Hits PubMed IDs
aerolysin 78.8 3
n-acetylglucosamine 56 3
udp-n-acetylglucosamine 52.8 2
alemtuzumab 46.9 1
phosphatidylinositol 39.7 3
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PIGA

Primer Products

Flow Cytometry Products

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 for PIGA Gene

This gene is overexpressed in Serum (55.8).

Integrated Proteomics: protein expression 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 expressions with PIGA: view

Expression partners for PIGA Gene

In Situ Assay 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 MAF
rs2543 -- 15,327,723(+) TTCTC(A/G)TACAA intron-variant
rs3434 -- 15,319,492(+) GGACA(C/T)GTAGC utr-variant-3-prime, nc-transcript-variant
rs3661 -- 15,319,880(+) GTGGC(A/G)TGCCT utr-variant-3-prime, nc-transcript-variant
rs1804165 -- 15,319,683(-) TTCAA(A/C)CTTTC utr-variant-3-prime, nc-transcript-variant
rs3087965 -- 15,319,760(+) ATCAC(A/T)TGTTT utr-variant-3-prime, nc-transcript-variant

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

Relevant External Links for PIGA Gene

HapMap Linkage Disequilibrium report
PIGA
Human Gene Mutation Database (HGMD)
PIGA
Locus Specific Mutation Databases (LSDB)
PIGA

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

Disorders for PIGA Gene

(2) OMIM Diseases for PIGA Gene (311770)

UniProtKB/Swiss-Prot

PIGA_HUMAN
  • 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.
  • 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.

(19) Novoseek inferred disease relationships for PIGA Gene

Disease -log(P) Hits PubMed IDs
paroxysmal hemoglobinuria nocturnal 98.2 100
hemolysis intravascular 92.2 2
anemia hemolytic acquired 91.1 3
somatic mutations 90.9 102
anemia aplastic 86.6 17

Relevant External Links for PIGA

Genetic Association Database (GAD)
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
  2. Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene. (PMID: 8306954) Bessler M. … Kinoshita T. (EMBO J. 1994) 3 4 23
  3. The cloning of PIG-A, a component in the early step of GPI-anchor biosynthesis. (PMID: 7680492) Miyata T. … Kinoshita T. (Science 1993) 3 4 23
  4. Genomic organization of the X-linked gene (PIG-A) that is mutated in paroxysmal nocturnal haemoglobinuria and of a related autosomal pseudogene mapped to 12q21. (PMID: 8081362) Bessler M. … Mason P.J. (Hum. Mol. Genet. 1994) 3 4 23
  5. Mutations within the Piga gene in patients with paroxysmal nocturnal hemoglobinuria. (PMID: 8167330) Ware R.E. … Howard T.A. (Blood 1994) 3 4 23

Products for PIGA Gene

Sources for PIGA Gene

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