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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 re... See more...
Aliases for PIGA Gene
Aliases for PIGA Gene
- Phosphatidylinositol Glycan Anchor Biosynthesis Class A 2 3 5
- Phosphatidylinositol N-Acetylglucosaminyltransferase Subunit A 3 4
- EC 2.4.1.198 4 51
- PIG-A 3 4
- GPI3 2 3
- Phosphatidylinositol Glycan, Class A (Paroxysmal Nocturnal Hemoglobinuria) 2
- Phosphatidylinositol-Glycan Biosynthesis, Class A Protein 3
- Phosphatidylinositol-Glycan Biosynthesis Class A Protein 4
External Ids for PIGA Gene
- HGNC: 8957
- Entrez Gene: 5277
- Ensembl: ENSG00000165195
- OMIM: 311770
- UniProtKB: P37287
Previous GeneCards Identifiers for PIGA Gene
- GC0XM014782
- GC0XM014163
- GC0XM014539
- GC0XM014699
- GC0XM015097
- GC0XM015247
- GC0XM013097
- GC0XM015337
Summaries 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 1. Among its related pathways are Glycosylphosphatidylinositol (GPI)-anchor biosynthesis and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol N-acetylglucosaminyltransferase activity and UDP-glycosyltransferase activity. An important paralog of this gene is ALG11.
UniProtKB/Swiss-Prot Summary for PIGA Gene
-
Necessary for the synthesis of N-acetylglucosaminyl-phosphatidylinositol, the very early intermediate in GPI-anchor biosynthesis.
Additional gene information for PIGA Gene
- HGNC(8957)
- Entrez Gene(5277)
- Ensembl(ENSG00000165195)
- OMIM(311770)
- UniProtKB(P37287)
- Open Targets Platform(ENSG00000165195)
- Monarch Initiative
- Search for PIGA at DataMed
- Search for PIGA at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PIGA Gene
Genomics for PIGA Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for PIGA Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around PIGA on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PIGA
- Top Transcription factor binding sites by QIAGEN in the PIGA gene promoter:
-
- ATF-2
- C/EBPalpha
- CRE-BP1
- CUTL1
- Evi-1
- Ik-2
- Meis-1
- Meis-1a
- Meis-1b
Genomic Locations for PIGA Gene
Genomic Locations for PIGA Gene
- chrX:15,319,451-15,335,580
- (GRCh38/hg38)
- Size:
- 16,130 bases
- Orientation:
- Minus strand
- chrX:15,337,573-15,353,676
- (GRCh37/hg19)
- Size:
- 16,104 bases
- Orientation:
- Minus strand
Genomic View for PIGA Gene
Genes around PIGA on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xp22.2 by HGNC
- Xp22.2 by Entrez Gene
- Xp22.2 by Ensembl
PIGA Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for PIGA Gene
Selected DME Specific Peptides for PIGA Gene
- P37287:
-
- VGGIPEVLP
- TVFTDHSL
Post-translational modifications for PIGA Gene
Other Protein References for PIGA Gene
Antibody Products
- G Biosciences Immunotag™ PIGA Antibody
-
Custom Antibody ServicesOriGene Antibodies for PIGA
- Novus Biologicals Antibodies for PIGA
-
Abcam antibodies for PIGA
- Invitrogen Antibodies for PIGA (AFLGC-PIGA)
-
Boster Bio Antibodies for PIGA
-
Santa Cruz Biotechnology (SCBT) Antibodies for PIGA
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for PIGA
- Origene Custom Protein Services for PIGA
- Novus Biologicals proteins for PIGA
-
Abcam proteins for PIGA
Domains & Families for PIGA Gene
Gene Families for PIGA Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for PIGA Gene
- InterPro:
- Blocks:
-
- Glycosyl transferase, group 1
- ProtoNet:
Suggested Antigen Peptide Sequences for PIGA Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ40728 fis, clone TKIDN2000240, highly similar to Phosphatidylinositol N-acetylglucosaminyltransferase subunit A (EC 2.4.1.198) (B3KUV7_HUMAN)
- cDNA FLJ54823, highly similar to PhosphatidylinositolN-acetylglucosaminyltransferase subunit A (EC 2.4.1.198) (B4E0V2_HUMAN)
- Phosphatidylinositol-glycan biosynthesis class A protein (PIGA_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P37287UniProtKB/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.
Function for PIGA Gene
Molecular function for PIGA Gene
- UniProtKB/Swiss-Prot Function:
- Necessary for the synthesis of N-acetylglucosaminyl-phosphatidylinositol, the very early intermediate in GPI-anchor biosynthesis.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + UDP-N-acetyl-alpha-D-glucosamine = a 6-(N-acetyl-alpha-D-glucosaminyl)-1-phosphatidyl-1D-myo-inositol + H(+) + UDP; Xref=Rhea:RHEA:14789, ChEBI:CHEBI:15378, ChEBI:CHEBI:57265, ChEBI:CHEBI:57705, ChEBI:CHEBI:57880, ChEBI:CHEBI:58223; EC=2.4.1.198;.
- GENATLAS Biochemistry:
- glycosyl-phosphatidylinositol (GPI),54kDa,anchor synthesis,class A,putatively involved in apoptosis regulation
Enzyme Numbers (IUBMB) for PIGA Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 16162815 |
| GO:0008194 | UDP-glycosyltransferase activity | TAS | -- |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0016757 | transferase activity, transferring glycosyl groups | IEA | -- |
| GO:0017176 | phosphatidylinositol N-acetylglucosaminyltransferase activity | IBA,TAS | 16162815 |
Phenotypes for PIGA Gene
- MGI mutant phenotypes for PIGA:
-
inferred from 4 alleles
- nervous system phenotype
- immune system phenotype
- cellular phenotype
- behavior/neurological phenotype
- mortality/aging
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- neoplasm
- digestive/alimentary phenotype
- reproductive system phenotype
- skeleton phenotype
- hematopoietic system phenotype
- integument phenotype
- embryo phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for PIGA:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PIGA - Select products 50% OFF >
- * PIGA CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PIGA
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PIGA
-
Santa Cruz Biotechnology (SCBT) CRISPR for PIGA
miRNA for PIGA Gene
- miRTarBase miRNAs that target PIGA
-
- mmu-let-7b-5p (MIRT012184)
- hsa-miR-26b-5p (MIRT028798)
- hsa-miR-326 (MIRT043655)
- hsa-miR-144-5p (MIRT260770)
- hsa-miR-4696 (MIRT535242)
- hsa-miR-6845-3p (MIRT535243)
- hsa-miR-5009-3p (MIRT535244)
- hsa-miR-590-3p (MIRT535245)
- hsa-miR-519c-3p (MIRT535246)
- hsa-miR-519b-3p (MIRT535247)
- hsa-miR-519a-3p (MIRT535248)
- hsa-miR-513c-3p (MIRT535249)
- hsa-miR-513a-3p (MIRT535250)
- hsa-miR-3606-3p (MIRT535251)
- hsa-miR-5692a (MIRT535252)
- hsa-miR-520b (MIRT535253)
- hsa-miR-520c-3p (MIRT535254)
- hsa-miR-520d-3p (MIRT535255)
- hsa-miR-302a-3p (MIRT535256)
- hsa-miR-520e (MIRT535257)
- hsa-miR-520a-3p (MIRT535258)
- hsa-miR-373-3p (MIRT535259)
- hsa-miR-372-3p (MIRT535260)
- hsa-miR-302b-3p (MIRT535261)
- hsa-miR-302c-3p (MIRT535262)
- hsa-miR-302d-3p (MIRT535263)
- hsa-miR-302e (MIRT535264)
- hsa-miR-454-3p (MIRT535265)
- hsa-miR-130a-3p (MIRT535266)
- hsa-miR-301b-3p (MIRT535267)
- hsa-miR-3666 (MIRT535268)
- hsa-miR-4295 (MIRT535269)
- hsa-miR-130b-3p (MIRT535270)
- hsa-miR-301a-3p (MIRT535271)
- hsa-miR-2355-5p (MIRT566422)
- hsa-miR-3689f (MIRT566423)
- hsa-miR-3689e (MIRT566424)
- hsa-miR-3689b-5p (MIRT566425)
- hsa-miR-3689a-5p (MIRT566426)
- hsa-miR-4746-5p (MIRT566427)
- hsa-miR-16-1-3p (MIRT566428)
- hsa-miR-548p (MIRT566429)
- hsa-miR-548e-5p (MIRT566430)
- mmu-miR-3082-5p (MIRT581875)
- mmu-miR-466m-3p (MIRT589302)
- mmu-miR-466o-3p (MIRT589303)
- mmu-miR-466f-3p (MIRT593034)
- mmu-miR-466i-3p (MIRT593035)
- mmu-miR-362-3p (MIRT593036)
- mmu-miR-329-3p (MIRT593037)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PIGA
- Browse OriGene Inhibitory RNA Products For PIGA
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIGA
Clone Products
- Applied Biological Materials (abm): Clones for PIGA - Select products 50% OFF >
- * PIGA as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for PIGA
- Addgene plasmids for PIGA
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PIGA
Cell Line Products
-
Horizon Cell Lines for PIGA
No data available for Phenotypes From GWAS Catalog , 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.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| plasma membrane | 2 |
| extracellular | 2 |
| mitochondrion | 2 |
| nucleus | 2 |
| endosome | 2 |
| cytosol | 2 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000506 | glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex | IBA,IDA | 16162815 |
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005789 | endoplasmic reticulum membrane | IDA,TAS | -- |
| GO:0016020 | membrane | IEA,HDA | 19946888 |
| GO:0016021 | integral component of membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for PIGA Gene
Pathways & Interactions for PIGA Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Glycosylphosphatidylinositol (GPI)-anchor biosynthesis | ||
| 2 | Metabolism of proteins | ||
| 3 | Metabolism | ||
| 4 | Post-translational modification- synthesis of GPI-anchored proteins | ||
Pathways by source for PIGA Gene
2 KEGG pathways for PIGA Gene
UniProtKB/Swiss-Prot P37287-PIGA_HUMAN
- Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.
Interacting Proteins for PIGA Gene
GPS-Prot Interaction Network for PIGA
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006506 | GPI anchor biosynthetic process | IEA,TAS | 16162815 |
| GO:0009893 | positive regulation of metabolic process | TAS | 16162815 |
| GO:0016254 | preassembly of GPI anchor in ER membrane | TAS | -- |
| GO:1990830 | cellular response to leukemia inhibitory factor | IEA | -- |
No data available for SIGNOR curated interactions for PIGA Gene
Drugs & Compounds for PIGA Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Phytosphingosine | Experimental | Pharma | 0 | |||
| Sphingosine | Experimental | Pharma | 0 | |||
| Uridine 5'-diphosphate | Experimental | Pharma | 0 | |||
| sphinganine | Pharma | 0 | ||||
| Sphingosine-1-phosphate | Pharma | Agonist, Full agonist | endogenous second messenger and ligand for S1PR1, Endogenous agonist at S1P1-5 | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 3-Dehydrosphinganine |
|
16105-69-4 |
|
|||
| 3-O-Sulfogalactosylceramide (d18:1/12:0) |
|
852100-88-0 |
|
|||
| 3-O-Sulfogalactosylceramide (d18:1/14:0) |
|
|
||||
| 3-O-Sulfogalactosylceramide (d18:1/16:0) |
|
862509-48-6 |
|
|||
| 3-O-Sulfogalactosylceramide (d18:1/18:0) |
|
244215-65-4 |
|
Transcripts for PIGA Gene
mRNA/cDNA for PIGA Gene
- 3 REFSEQ mRNAs :
- 54 NCBI additional mRNA sequence :
- 19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000333590 3652 nts (view in UCSC)
- ENST00000463173 520 nts (view in UCSC)
- ENST00000474662 582 nts (view in UCSC)
- ENST00000475746 153 nts (view in UCSC)
- ENST00000482148 1092 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PIGA - Select products 50% OFF >
- * PIGA CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PIGA
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PIGA
-
Santa Cruz Biotechnology (SCBT) CRISPR for PIGA
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PIGA
- Browse OriGene Inhibitory RNA Products For PIGA
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIGA
Clone Products
- Applied Biological Materials (abm): Clones for PIGA - Select products 50% OFF >
- * PIGA as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for PIGA
- Addgene plasmids for PIGA
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PIGA
| 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
Expression for PIGA Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
This gene is overexpressed in Serum (55.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PIGA Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PIGA
SOURCE GeneReport for Unigene cluster for PIGA Gene:
Hs.137154Evidence on tissue expression from TISSUES for PIGA Gene
- Nervous system(4.5)
- Bone marrow(3)
- Blood(2.8)
- Intestine(2.5)
- Kidney(2.3)
- Liver(2.3)
Phenotype-based relationships between genes and organs from Gene ORGANizer for PIGA Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- meninges
- mouth
- neck
- nose
- olfactory bulb
- outer ear
- pharynx
- skull
- tooth
Thorax:
- chest wall
- diaphragm
- esophagus
- heart
- heart valve
- lung
- rib
- rib cage
Abdomen:
- abdominal wall
- intestine
- large intestine
- small intestine
- stomach
Pelvis:
- pelvis
- rectum
Limb:
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- nail
- shoulder
- toe
- upper limb
- wrist
General:
- blood
- blood vessel
- peripheral nerve
- peripheral nervous system
- red blood cell
- skin
- spinal column
- spinal cord
- vertebrae
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for PIGA
-
OriGene qPCR primer pairs and template standards for PIGA
Gene Expression 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PIGA 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | PIGA 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | PIGA 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | PIGA 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Piga 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Piga 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | PIGA 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | PIGA 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | PIGA 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | piga 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.16573 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | piga 30 31 |
|
OneToOne | |
| zgc56589 30 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011274 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG6401 30 31 32 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | piga-1 30 31 |
|
OneToOne | |
| D2085.6 32 |
|
|
|||
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0C09713g 30 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SPT14 30 31 33 |
|
OneToOne | |
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AAL108C 30 |
|
||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | SETH2 30 |
|
||
| Barley (Hordeum vulgare) |
Liliopsida | Hv.4393 30 |
|
||
| Wheat (Triticum aestivum) |
Liliopsida | Ta.10118 30 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | gpi3 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU09757 30 |
|
||
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.5861 30 |
|
- Species where no ortholog for PIGA was found in the sources mined by GeneCards:
-
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for PIGA: view image
Paralogs for PIGA Gene
Variants for PIGA Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PIGA Gene
| SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 644227 | Benign: Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 15,331,681(-) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT | |
| 647223 | Uncertain Significance: Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 15,331,211(-) | A/G | INTRON_VARIANT | |
| 653615 | Uncertain Significance: Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 15,321,534(-) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 655263 | Uncertain Significance: Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 15,325,093(-) | T/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 655615 | Uncertain Significance: Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 15,331,405(-) | A/C | MISSENSE_VARIANT,INTRON_VARIANT |
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)
Additional Variant Information for PIGA Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIGA Gene
Disorders for PIGA Gene
(21) MalaCards diseases for PIGA Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| multiple congenital anomalies-hypotonia-seizures syndrome 2 |
|
|
| paroxysmal nocturnal hemoglobinuria 1 |
|
|
| paroxysmal nocturnal hemoglobinuria |
|
|
| ferro-cerebro-cutaneous syndrome |
|
|
| west syndrome |
|
|
Search PIGA in MalaCards
View complete list of genes associated with diseases
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, ECO:0000269 PubMed:26993267}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for PIGA
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for PIGA Gene
Publications for PIGA Gene
- 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
- The spectrum of somatic mutations in the PIG-A gene in paroxysmal nocturnal hemoglobinuria includes large deletions and small duplications. (PMID: 10087994) Nafa K … Luzzatto L (Blood cells, molecules & diseases 1998) 3 4 23
- Mutations within the Piga gene in patients with paroxysmal nocturnal hemoglobinuria. (PMID: 8167330) Ware RE … Howard TA (Blood 1994) 3 4 23
- Characterization of genomic PIG-A gene: a gene for glycosylphosphatidylinositol-anchor biosynthesis and paroxysmal nocturnal hemoglobinuria. (PMID: 8193350) Iida Y … Kinoshita T (Blood 1994) 3 4 23
- Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene. (PMID: 8306954) Bessler M … Kinoshita T (The EMBO journal 1994) 3 4 23
ExternalLinks
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Sources for PIGA Gene
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