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PIGL Gene

protein-coding   GIFtS: 58
GCID: GC17P016120

Phosphatidylinositol Glycan Anchor Biosynthesis, Class L

(Previous names: phosphatidylinositol glycan, class L)
  See PIGL-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Phosphatidylinositol Glycan Anchor Biosynthesis, Class L1 2     PIG-L2 3
Phosphatidylinositol Glycan, Class L1 2     CHIME2 5
N-Acetylglucosaminylphosphatidylinositol Deacetylase1 2     N-Acetylglucosaminyl-Phosphatidylinositol De-N-Acetylase2
Phosphatidylinositol-Glycan Biosynthesis Class L Protein2 3     EC 3.5.1.893

External Ids:    HGNC: 89661   Entrez Gene: 94872   Ensembl: ENSG000001084747   OMIM: 6059475   UniProtKB: Q9Y2B23   

Export aliases for PIGL gene to outside databases

Previous GC identifers: GC17P016482 GC17P017232 GC17P016063 GC17P016321 GC17P016061 GC17P015989


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PIGL Gene:
This gene encodes an enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis,
which is the de-N-acetylation of N-acetylglucosaminylphosphatidylinositol (GlcNAc-PI). Study of a similar rat
enzyme suggests that this protein localizes to the endoplasmic reticulum. (provided by RefSeq, Jul 2008)

GeneCards Summary for PIGL Gene:
PIGL (phosphatidylinositol glycan anchor biosynthesis, class L) is a protein-coding gene. Diseases associated with PIGL include zunich neuroectodermal syndrome, and coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome. GO annotations related to this gene include N-acetylglucosaminylphosphatidylinositol deacetylase activity.

UniProtKB/Swiss-Prot: PIGL_HUMAN, Q9Y2B2
Function: Involved in the second step of GPI biosynthesis. De-N-acetylation of
N-acetylglucosaminyl-phosphatidylinositol




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010718.17  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PIGL gene promoter:
         TBP   Pax-5   AML1a   AP-1   AP-2gamma   FOXL1   Evi-1   Cart-1   Hlf   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPIGL promoter sequence
   Search Chromatin IP Primers for PIGL

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PIGL


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p12-p11.2   Ensembl cytogenetic band:  17p11.2   HGNC cytogenetic band: 17p12-p11.2

PIGL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PIGL gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P016120:  view genomic region     (about GC identifiers)

Start:
16,120,505 bp from pter      End:
16,252,115 bp from pter
Size:
131,611 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PIGL_HUMAN, Q9Y2B2 (See protein sequence)
Recommended Name: N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase  
Size: 252 amino acids; 28531 Da
Secondary accessions: A8KA67

Explore the universe of human proteins at neXtProt for PIGL: NX_Q9Y2B2

Explore proteomics data for PIGL at MOPED


See PIGL Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_004269.1  
ENSEMBL proteins: 
 ENSP00000462432   ENSP00000463540   ENSP00000463820   ENSP00000225609   ENSP00000379185  
 ENSP00000463754   ENSP00000464424   ENSP00000462131   ENSP00000470064  
Reactome Protein details: Q9Y2B2

PIGL Human Recombinant Protein Products:

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antibodies-online proteins for PIGL (7 products) 

 
antibodies-online peptides for PIGL

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antibodies-online antibodies for PIGL (17 products) 

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antibodies-online kits for PIGL (8 products) 


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
PIG: Phosphatidylinositol glycan anchor biosynthesis

2 InterPro protein domains:
 IPR003737 GlcNAc_PI_deacetylase-related
 IPR024078 LmbE-like_dom

Graphical View of Domain Structure for InterPro Entry Q9Y2B2

ProtoNet protein and cluster: Q9Y2B2

1 Blocks protein domain: IPB003737 LmbE-like protein

UniProtKB/Swiss-Prot: PIGL_HUMAN, Q9Y2B2
Similarity: Belongs to the PIGL family


Find genes that share domains with PIGL           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: PIGL_HUMAN, Q9Y2B2
Function: Involved in the second step of GPI biosynthesis. De-N-acetylation of
N-acetylglucosaminyl-phosphatidylinositol
Catalytic activity: 6-(N-acetyl-alpha-D-glucosaminyl)-1-phosphatidyl-1D-myo-inositol + H(2)O =
6-(alpha-D-glucosaminyl)-1-phosphatidyl-1D-myo-inositol + acetate

     Genatlas biochemistry entry for PIGL:
phosphatidylinositol glycan,class L,S cerevisiae
homolog,N-acetylglucosaminylphosphatidylinositol-N-acetylase,essential in glycosylphosphatidylinositol
biosynthesis

     Enzyme Number (IUBMB): EC 3.5.1.891

     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0000225N-acetylglucosaminylphosphatidylinositol deacetylase activity NAS10085243
     
Find genes that share ontologies with PIGL           About GenesLikeMe


Phenotypes:
     1 GenomeRNAi human phenotype for PIGL:
 Increased HPV18 LCR reporter a 

Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for PIGL

miRNA
Products:
    
Block miRNA regulation of human, mouse, rat PIGL using miScript Target Protectors
1 qRT-PCR Assays for microRNA that regulate PIGL:
hsa-miR-513b
SwitchGear 3'UTR luciferase reporter plasmidPIGL 3' UTR sequence
Inhib. RNA
Products:
    
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Predesigned siRNA for gene silencing in human, mouse, rat PIGL

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DNA2.0 Custom Codon Optimized Gene Synthesis Service for PIGL
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PIGL

Cell Line
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
PIGL_HUMAN, Q9Y2B2: Endoplasmic reticulum membrane; Single-pass membrane protein (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
endoplasmic reticulum5
extracellular2
cytosol1
nucleus1
plasma membrane1

Gene Ontology (GO): 3 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005783endoplasmic reticulum ----
GO:0005789endoplasmic reticulum membrane TAS--
GO:0016021integral component of membrane IEA--

Find genes that share ontologies with PIGL           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for PIGL About    
See pathways by source

SuperPathContained pathways About
1Post-translational modification- synthesis of GPI-anchored proteins
Post-translational modification- synthesis of GPI-anchored proteins0.76
Synthesis of glycosylphosphatidylinositol (GPI)0.00
Glycosylphosphatidylinositol(GPI)-anchor biosynthesis0.76
2Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
Post-translational protein modification0.43
Metabolism of proteins0.30
3Metabolism
Metabolic pathways0.38


Find genes that share SuperPaths with PIGL           About GenesLikeMe

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


1 Reactome Pathway for PIGL
    Synthesis of glycosylphosphatidylinositol (GPI)


2 Kegg Pathways  (Kegg details for PIGL):
    Glycosylphosphatidylinositol(GPI)-anchor biosynthesis
Metabolic pathways

UniProtKB/Swiss-Prot: PIGL_HUMAN, Q9Y2B2
Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PIGL
Interactions:

    Search GeneGlobe Interaction Network for PIGL

STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

Selected Interacting proteins for PIGL (ENSP000002256094) via UniProtKB, MINT, STRING, and/or I2D (see all 8)

InteractantInteraction Details
GeneCardExternal ID(s)
DPM2ENSP000003221814STRING: ENSP00000322181
GPLD1ENSP000002300364STRING: ENSP00000230036
PIGAENSP000003698204STRING: ENSP00000369820
PIGCENSP000002583244STRING: ENSP00000258324
PIGHENSP000002164524STRING: ENSP00000216452
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Gene Ontology (GO): 5 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006501C-terminal protein lipidation TAS--
GO:0006506GPI anchor biosynthetic process NAS10085243
GO:0016254preassembly of GPI anchor in ER membrane TAS--
GO:0043687post-translational protein modification TAS--
GO:0044267cellular protein metabolic process TAS--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for PIGL

Selected HMDB Compounds for PIGL (see all 900)    About this table
CompoundSynonyms CAS #PubMed Ids
3-Dehydrosphinganine1-Hydroxy-2-amino-3-oxo-octadecane (see all 9)16105-69-4--
3-O-Sulfogalactosylceramide (d18:1/12:0)Sulfatide (d18:1/12:0) (see all 13)852100-88-0--
3-O-Sulfogalactosylceramide (d18:1/14:0)Sulfatide (d18:1/14:0) (see all 13)----
3-O-Sulfogalactosylceramide (d18:1/16:0)Sulfatide (d18:1/16:0) (see all 13)862509-48-6--
3-O-Sulfogalactosylceramide (d18:1/18:0)Sulfatide (d18:1/18:0) (see all 13)244215-65-4--
3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))Sulfatide (d18:1/18:1(9Z)) (see all 13)----
3-O-Sulfogalactosylceramide (d18:1/20:0)Sulfatide (d18:1/20:0) (see all 13)265096-81-9--
3-O-Sulfogalactosylceramide (d18:1/22:0)Sulfatide (d18:1/22:0) (see all 13)265096-83-1--
3-O-Sulfogalactosylceramide (d18:1/24:0)Sulfatide (d18:1/24:0) (see all 16)151122-71-3--
3-O-Sulfogalactosylceramide (d18:1/24:1(15Z))Sulfatide (d18:1/24:1(15Z)) (see all 13)151057-28-2--



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for PIGL gene: 
NM_004278.3  

Unigene Cluster for PIGL:

Phosphatidylinositol glycan anchor biosynthesis, class L
Hs.499793  [show with all ESTs]
Unigene Representative Sequence: AK023469
16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000607144 ENST00000581006 ENST00000584797 ENST00000498772 ENST00000225609(uc002gpv.3)
ENST00000395844 ENST00000470116 ENST00000585034(uc010vwd.2) ENST00000477745
ENST00000489009 ENST00000463810 ENST00000580201 ENST00000596678 ENST00000488375
ENST00000431149 ENST00000414755
miRNA
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1 qRT-PCR Assays for microRNA that regulate PIGL:
hsa-miR-513b
SwitchGear 3'UTR luciferase reporter plasmidPIGL 3' UTR sequence
Inhib. RNA
Products:
     
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Predesigned siRNA for gene silencing in human, mouse, rat PIGL
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GenScript: all cDNA clones in your preferred vector: PIGL (NM_004278)
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Primer
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Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PIGL
  QuantiTect SYBR Green Assays in human, mouse, rat PIGL
  QuantiFast Probe-based Assays in human, mouse, rat PIGL

Additional mRNA sequence: 

AB017165.1 AK023469.1 AK292932.1 AK296120.1 AK302523.1 BC068197.1 

7 DOTS entries:

DT.107247  DT.92419515  DT.95258985  DT.102829196  DT.91924079  DT.95268488  DT.100745603 

Selected AceView cDNA sequences (see all 86):

AI383617 BF108861 Z38346 BP372744 BM836750 BF593304 BI753538 AI637838 
NM_004278 BX280602 BI833840 AI089509 BP380329 AA515381 AB017165 AU098701 
BQ013049 AI091675 BG681898 AW469310 AI318083 AW205945 AK023469 BM784582 

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for PIGL (see all 8)    About this scheme

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9
SP1:              -     -     -     -     -                       -     -               
SP2:              -     -     -                                                         
SP3:              -     -     -     -     -                                             
SP4:              -     -     -     -     -                 -     -     -               
SP5:              -           -                                                         


ECgene alternative splicing isoforms for PIGL

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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PIGL expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TAGGCCAGGG
PIGL Expression
About this image

PIGL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

PIGL Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.499793
    Custom PCR Arrays for PIGL
Primer
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QuantiFast Probe-based Assays in human, mouse, rat PIGL
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PIGL

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for PIGL gene from Selected species (see all 21)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Pigl1 , 5 phosphatidylinositol glycan anchor biosynthesis, class more1, 5 83.07(n)1
79.37(a)1
  11 (38.34 cM)5
3279421  NM_001039536.21  NP_001034625.11 
 624584605 
chicken
(Gallus gallus)
Aves PIGL1 phosphatidylinositol glycan anchor biosynthesis, class more 69.9(n)
66.29(a)
  417600  XM_415845.4  XP_415845.4 
tropical clawed frog
(Xenopus tropicalis)
Amphibia pigl1 phosphatidylinositol glycan anchor biosynthesis, class more 61.36(n)
58.37(a)
  100495759  XM_002938921.2  XP_002938967.1 
zebrafish
(Danio rerio)
Actinopterygii pigl1 phosphatidylinositol glycan anchor biosynthesis, class more 55.99(n)
52.38(a)
  561471  NM_001256655.1  NP_001243584.1 
fruit fly
(Drosophila melanogaster)
Insecta CG44331 , 3 CG44331 41(a)3
51.53(n)1
46.38(a)1
  92C13
423881  NM_001260272.11  NP_001247201.11 
worm
(Caenorhabditis elegans)
Secernentea Y52B11C.11 Y52B11C.1 44.14(n)
39.81(a)
  3565275  NM_060472.3  NP_492873.2 
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPI12(YMR281W)4
GPI121
ER membrane protein involved in the second step of more4
GPI121
43.79(n)1
38.24(a)1
  13(832339-833253)4
8553241, 4  NP_014008.11, 4 
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G581301 AT3G58130 44.34(n)
33.96(a)
  824982  NM_001035805.1  NP_001030882.1 
rice
(Oryza sativa)
Liliopsida Os04g06788001 Os04g0678800 44.63(n)
36.78(a)
  4337416  NM_001060810.1  NP_001054275.1 


ENSEMBL Gene Tree for PIGL (if available)
TreeFam Gene Tree for PIGL (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for PIGL (see all 2116)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 17 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1453033311,2,,4
C,FColoboma, congenital heart disease, ichthyosiform dermatosis, mental retardation and ear anomalies syndrome (CHIME)4 --16208606(+) GGCCCT/CGCACT 2 /P /L mis12Minor allele frequency- C:0.00NA EU 5873
rs1166391841,2
C,F--16107163(+) CCCGAC/TCTGCC 1 -- us2k11Minor allele frequency- T:0.20WA 118
rs766077901,2
C,F--16107270(+) CCGGGG/ATTGCA 1 -- us2k11Minor allele frequency- A:0.14WA 118
rs1929061431,2
--16107301(+) GGGAGC/TTGGCT 1 -- us2k10--------
rs1847865661,2
--16107412(+) CACTCC/TAGCCG 1 -- us2k10--------
rs22727751,2
C,F,H--16107570(-) GCCCGG/ACCAGC 1 -- us2k18Minor allele frequency- A:0.06EA MN NS 3252
rs1872396161,2
--16107632(+) CATGTC/GTCCTC 1 -- us2k10--------
rs1787971,2
C,F,O,A,H--16107673(-) GGCCCC/TGTATC 1 -- us2k123Minor allele frequency- T:0.24NS EA NA MN WA 3416
rs283728011,2
F--16107775(-) CGCCTG/AAGGAA 1 -- us2k12Minor allele frequency- A:0.01MN EA 1252
rs1500549811,2
--16107825(+) CAAACC/TCCTCC 1 -- us2k10--------

HapMap Linkage Disequilibrium report for PIGL (16120505 - 16252115 bp)

Structural Variations
     Database of Genomic Variants (DGV) 10 variations for PIGL:    About this table    
Variant IDTypeSubtypePubMed ID
esv2715702CNV Deletion23290073
esv2666670CNV Deletion23128226
nsv1994CNV Insertion18451855
nsv907718CNV Loss21882294
nsv528263CNV Loss19592680
dgv3063n71CNV Loss21882294
nsv907719CNV Gain21882294
nsv907715CNV Gain21882294
nsv522169CNV Gain19592680
nsv907717CNV Gain21882294

Human Gene Mutation Database (HGMD): PIGL
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing PIGL
DNA2.0 Custom Variant and Variant Library Synthesis for PIGL

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 605947   
OMIM disorders: 280000  
UniProtKB/Swiss-Prot: PIGL_HUMAN, Q9Y2B2
  • Coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation and ear anomalies
    syndrome (CHIME) [MIM:280000]: An extremely rare autosomal recessive multisystem disorder clinically
    characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation, and
    ear anomalies including conductive hearing loss. Other clinical features include distinctive facial features,
    abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 3 diseases for PIGL:    
    About MalaCards
    zunich neuroectodermal syndrome    coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome    babesiosis

    1 disease from the University of Copenhagen DISEASES database for PIGL:
    Babesiosis

    Find genes that share disorders with PIGL           About GenesLikeMe

    Genetic Association Database (GAD): PIGL

    Export disorders for PIGL gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PIGL gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with PIGL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mammalian PIG-L and its yeast homologue Gpi12p are N- acetylglucosaminylphosphatidylinositol de-N-acetylases essential in glycosylphosphatidylinositol biosynthesis. (PubMed id 10085243)1, 2, 3 Watanabe R.... Kinoshita T. (Biochem. J. 1999)
    2. Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. (PubMed id 22444671)1, 2 Ng B.G.... Freeze H.H. (Am. J. Hum. Genet. 2012)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Subcellular localization and targeting of N-acetylglucosaminyl phosphatidylinositol de-N-acetylase, the second enzyme in the glycosylphosphatidylinositol biosynthetic pathway. (PubMed id 14742432)1, 9 Pottekat A. and Menon A.K. (J. Biol. Chem. 2004)
    6. Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. (PubMed id 22959728)1  ....Zheng J.G. (Neurobiol. Aging 2013)
    7. A genome-wide short hairpin RNA screening of jurkat T-cells for human proteins contributing to productive HIV-1 replication. (PubMed id 19460752)1 Yeung M.L....Jeang K.T. (J. Biol. Chem. 2009)
    8. Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study. (PubMed id 17903297)4 Seshadri S....Wolf P.A. (BMC Med. Genet. 2007)
    9. Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PubMed id 17903300)4 Fox C.S....Atwood L.D. (BMC Med. Genet. 2007)
    10. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9487 HGNC: 8966 AceView: PIGL Ensembl:ENSG00000108474 euGenes: HUgn9487
    ECgene: PIGL Kegg: 9487 H-InvDB: PIGL

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PIGL Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PIGL Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for PIGL gene:
    Search GeneIP for patents involving PIGL

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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