PIGA Gene
protein-coding GIFtS : 65
GC0XM015247
phosphatidylinositol glycan anchor biosynthesis, class A (Previous names: phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria) )Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
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Aliases & Descriptions for PIGA
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases EC 2.4.1.198 3 GPI3 1 , 2 OTTHUMP00000022959 2 PIG-A 2 , 3
Descriptions GPI anchor biosynthesis 2 GlcNAc-PI synthesis protein 2 , 3 Phosphatidylinositol-glycan biosynthesis class A protein 3 phosphatidylinositol N-acetylglucosaminyltransferase subunit A 2 phosphatidylinositol glycan anchor biosynthesis, class A 2 phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria) 1 phosphatidylinositol-glycan biosynthesis, class A protein 2
Search outside databases for aliases for PIGA genePrevious GC identifers: GC0XM014782 GC0XM014163 GC0XM014539 GC0XM014699 GC0XM015097
Summaries for PIGA (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for PIGA : 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 aglycolipid 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 resultfrom mutations in this gene. Alternate splice variants have been characterized. [provided byRefSeq] UniProtKB/Swiss-Prot: PIGA_HUMAN, P37287 Function : Necessary for the synthesis of N-acetylglucosaminyl-phosphatidylinositol, the very earlyintermediate in GPI-anchor biosynthesis
Gene Wiki entry for PIGA
Genomic Location for PIGA
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the PIGA gene Entrez Gene cytogenetic band: Xp22.1 Ensembl cytogenetic band: Xp22.2 HGNC cytogenetic band: Xp22.1 PIGA Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome X GeneLoc Exon Structure
GeneLoc location for GC0XM015247:
(about GC identifiers )
Start:
15,247,499 bp from pter
End:
15,263,581 bp from pter
Size:
16,083 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000023.9 NT_011757.15 Proteins for PIGA
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: PIGA_HUMAN, P37287 (See
protein sequence )Recommended Name: Phosphatidylinositol N-acetylglucosaminyltransferase subunit A Size : 484 amino acids; 54127 Da
Subunit : Associates with PIGC, PIGH, PIGP, PIGQ and DPM2. The latter is not essential for activity.Interacts directly with PIGY
Subcellular location : Endoplasmic reticulum membrane; Single-pass membrane protein
Secondary accessions : Q16025 Q16250Alternative splicing : 2 isoforms : P37287-1 P37287-2
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_002632.1 NP_065206.2 ENSEMBL proteins: ENSP00000369820 ENSP00000351532 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 5 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for PIGA: Assays for PIGA:
Protein
Domains/ Families for PIGA(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P37287 ProtoNet protein and cluster: P37287
1 Blocks protein family : IPB001296 Glycosyl transferase UniProtKB/Swiss-Prot: PIGA_HUMAN, P37287 Similarity : Belongs to the glycosyltransferase 1 family
Gene Function for PIGA
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_002641 Applied Biosystems Silencer ® siRNAs for PIGA Sigma-Aldrich siRNA for PIGA Sigma-Aldrich shRNA for PIGA Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_002641                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_002641                                  untagged cDNA clones in CMV expression vector (see all 4 ): NM_002641  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_002641 UniProtKB/Swiss-Prot: PIGA_HUMAN, P37287 Function : Necessary for the synthesis of N-acetylglucosaminyl-phosphatidylinositol, the very earlyintermediate in GPI-anchor biosynthesis Catalytic activity : UDP-N-acetyl-D-glucosamine + 1-phosphatidyl-1D-myo-inositol = UDP +6-(N-acetyl-alpha-D-glucosaminyl)-1-phosphatidyl-1D-myo-inositol Enzyme Number (IUBMB): EC 2.4.1.198
Genatlas biochemistry entry for PIGA :glycosyl-phosphatidylinositol (GPI),54kDa,anchor synthesis,class A,putatively involved in apoptosisregulation
14 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Piga) :3 Gene Ontology (GO) molecular function terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0005515 protein binding
IPI 16162815 GO:0016757 transferase activity, transferring glycosyl groups
IEA -- GO:0017176 phosphatidylinositol N-acetylglucosaminyltransferase activity
TAS 16162815
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Pathways & Interactions for PIGA
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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UniProtKB/Swiss-Prot: PIGA_HUMAN, P37287 Pathway : Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis
Gene Network CentralTM Interacting Genes and Proteins Network for PIGA 5/19 Interacting proteins for PIGA (ENSP00000369820 3 ) via UniProtKB, MINT, and/or STRING (see all 19
)About this table 3 Gene Ontology (GO) biological process terms (links to tree view) :
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Drugs & Compounds for PIGA (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for PIGA 4 Novoseek chemical compound relationships for PIGA gene
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Transcripts for PIGA(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
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OriGene ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_002641 Sigma-Aldrich siRNA for PIGA Sigma-Aldrich shRNA for PIGA Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_002641 NM_020473
REFSEQ mRNAs for PIGA gene (2 alternative transcripts): NM_002641.2 NM_020473.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_002641 NM_020473
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_002641                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_002641                                  untagged cDNA clones in CMV expression vector (see all 4 ): NM_002641  
Additional cDNA sequence: AK098047.1 AK290497.1 AK303538.1 AK304144.1 AK315063.1 BC038236.1 D11466.1 S61523.1 S74936.1
6 DOTS entries : DT.95366694 DT.213216 DT.99982419 DT.102823086 DT.121309992 DT.92422332
24/76 AceView cDNA sequences (see all 76
):BQ026278 AU098475 CB157876 CF138539 D11466 NM_020472 BX113864 AI417807 NM_020473 BC038236 CB989816 CF994958 AU136655 NM_002641 BM725982 BM787996 AU127618 BQ026877 BX498283 N33325 BM548209 CD641690 AU129607 CB989512
highest scoring ESTs for PIGA :D11466 AU139488 AA280576 AA424735 AA495864 AA730046 AI082575 AI287677 AI417096 AI537052
Unigene Cluster for PIGA: Phosphatidylinositol glycan anchor biosynthesis, class A Hs.137154 [show with all ESTs ] Unigene Representative Sequence: NM_002641 GeneLoc Exon Structure 5/6 Alternative Splicing Database (ASD) splice patterns (SP) for PIGA (see all 6
) ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b SP1 :   -   -   -     -             SP2 :       -     -             SP3 :     -   -     -             SP4 :     -   -   -   -             SP5 :           -            
About this scheme ECgene alternative splicing isoforms for PIGA 2 Ensembl transcripts including schematic representations : ENST00000333590
ENST00000358698
Expression for PIGA
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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PIGA expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for PIGA 1 / 2 / 3
4 probe-sets matching PIGA gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: TCCAAAAATASOURCE GeneReport for Unigene cluster: Hs.137154 Expression variation in blood from EXPOLDB for PIGA
Orthologs for PIGA
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for PIGA gene from 5/21 species (see all 21
)
About this table Species with no ortholog for PIGA ENSEMBL Gene Tree for PIGA Paralogs for PIGA (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Pseudogenes 1 related pseudogene
SNPs/Variants for PIGA (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for PIGA (up to first 250kb)
Disorders & Mutations for PIGA
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 311770 UniProtKB/Swiss-Prot: PIGA_HUMAN, P37287
Defects in PIGA are the cause of paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770].PNH is an acquired hemolytic blood disorder characterized by chronic hemolysis withhemoglobinuria, increased tendency to venous thrombosis, and variable degrees of bone marrowfailure Biosynthesis of the GPI anchor is deficient in patients with PNH leading to deficientsurface expression of GPI-anchored proteins such as DAF or CD59 which play roles in the protectionof red cells from the action of complement
10/18 Novoseek disease relationships for PIGA gene (see all 18
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
paroxysmal hemoglobinuria nocturnal
98.21
103
8541557 (3), 10389589 (2), 9129055 (2), 16923549 (2) (see all 85 )
hemolysis intravascular
92.32
2
16940417 (1), 11372757 (1)
anemia hemolytic acquired
91.58
3
19074066 (1), 8541557 (1), 11301179 (1)
somatic mutations
90.87
105
10087994 (3), 8500164 (3), 7655005 (3), 7986731 (2) (see all 82 )
anemia aplastic
86.72
18
10233427 (2), 16467865 (2), 8619404 (1), 11750098 (1) (see all 15 )
hemoglobinuria
84.80
1
11372733 (1)
anemia hemolytic
72.87
1
17124035 (1)
hemolysis
71.50
2
12627846 (1), 11756148 (1)
cytopenia
66.10
1
14584753 (1)
hematologic disorders
64.33
4
10389589 (1), 7543308 (1), 7485098 (1), 9238050 (1)
About this table Genetic Association Database: PIGA
Medical News for PIGA (Possibly Related Articles in
Doctor's Guide )
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Publications for PIGA (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/183 PubMed articles for PIGA gene (see all 183
): Deficiency of the GPI anchor caused by a somatic mutation of the PIG- A gene in paroxysmal nocturnal hemoglobinuria. (PubMed id 8500164) 1, 2, 3, 4 Takeda J.... Kinoshita T. (1993) 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. (PubMed id 8081362) 1, 3, 4 Bessler M.... Mason P.J. (1994) The spectrum of somatic mutations in the PIG-A gene in paroxysmal nocturnal hemoglobinuria includes large deletions and small duplications. (PubMed id 10087994) 1, 3, 4 Nafa K.... Luzzatto L. (1998) Characterization of genomic PIG-A gene: a gene for glycosylphosphatidylinositol-anchor biosynthesis and paroxysmal nocturnal hemoglobinuria. (PubMed id 8193350) 1, 3, 4 Iida Y.... Kinoshita T. (1994) Mutations within the Piga gene in patients with paroxysmal nocturnal hemoglobinuria. (PubMed id 8167330) 1, 3, 4 Ware R.E.... Howard T.A. (1994) Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene. (PubMed id 8306954) 1, 3, 4 Bessler M.... Kinoshita T. (1994) The cloning of PIG-A, a component in the early step of GPI-anchor biosynthesis. (PubMed id 7680492) 1, 3, 4 Miyata T.... Kinoshita T. (1993) The initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-Y, a seventh component. (PubMed id 16162815) 3, 4 Murakami Y....Kinoshita T. (2005) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) Mutation analysis of the PIG-A gene in Korean patients with paroxysmal nocturnal haemoglobinuria. (PubMed id 12037021) 3, 4 Yoon J.H.... Kim B.K. (2002)
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Genome Databases showing PIGA
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing PIGA
(According to HUGE )
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--
Specialized Databases showing PIGA (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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Name Description
Functional Glycomics Gateway - GTase http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_555
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-- Services for PIGA (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for PIGA:
Recombinant Proteins (PIGA ) Antibodies (PIGA )
Search Tocris compounds for PIGA
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Pathways/Interactions for PIGA
Proteins for PIGA
Publications for PIGA
SNPs for PIGA
Search Box for PIGA
Services for PIGA
Summaries for PIGA
Technologies for PIGA
Transcripts for PIGA
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009