Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PIGL Gene

protein-coding   GIFtS: 59
GCID: GC17P016120

Phosphatidylinositol Glycan Anchor Biosynthesis, Class L

(Previous names: phosphatidylinositol glycan, class L)
  See 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)
About This Section

Aliases
Phosphatidylinositol Glycan Anchor Biosynthesis, Class L1 2     PIG-L2 3
Phosphatidylinositol Glycan, Class L1 2     CHIME2
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome, and babesiosis, and among its related super-pathways are Post-translational modification: synthesis of GPI-anchored proteins and Post-translational protein modification. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010718.16  NC_018928.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PIGL

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PIGL_HUMAN, Q9Y2B2 (See protein sequence)
Recommended Name: N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase  
Size: 252 amino acids; 28531 Da
Subcellular location: Endoplasmic reticulum membrane; Single-pass membrane protein (By similarity)
Secondary accessions: A8KA67

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

Explore proteomics data for PIGL at MOPED 

PIGL Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

PIGL Protein Expression

REFSEQ proteins: NP_004269.1  
ENSEMBL proteins: 
 ENSP00000462432   ENSP00000463540   ENSP00000463820   ENSP00000379185   ENSP00000225609  
 ENSP00000463754   ENSP00000464424   ENSP00000462131   ENSP00000470064  
Reactome Protein details: Q9Y2B2
Human Recombinant Protein Products for PIGL: 
Browse Purified and Recombinant Proteins at EMD Millipore
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
OriGene Purified Protein for PIGL
Browse OriGene Protein Over-expression Lysates
OriGene MassSpec for PIGL 
OriGene Custom Protein Services for PIGL
GenScript Custom Purified and Recombinant Proteins Services for PIGL
Novus Biologicals PIGL Proteins
Browse Sino Biological Recombinant Proteins
Browse Sino Biological Cell Lysates 
Browse ProSpec Recombinant Proteins
Cloud-Clone Corp. Proteins for PIGL 

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005783endoplasmic reticulum NAS--
GO:0005789endoplasmic reticulum membrane TAS--
GO:0016021integral to membrane IEA--

PIGL for ontologies           About GeneDecksing



PIGL Antibody Products: 
Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Browse R&D Systems for Antibodies
Browse OriGene Antibodies
OriGene Custom Antibody Services for PIGL
GenScript Custom Superior Antibodies Services for PIGL
Novus Biologicals PIGL Antibodies
Abcam antibodies for PIGL
Cloud-Clone Corp. Antibodies for PIGL 
Search ThermoFisher Antibodies for PIGL
LSBio Antibodies in human, mouse, rat for PIGL 

Assay Products for PIGL: 
Browse Kits and Assays available from EMD Millipore
OriGene Custom Assay Services for PIGL
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for PIGL
Browse Enzo Life Sciences for kits & assays
Cloud-Clone Corp. ELISAs for PIGL 
Cloud-Clone Corp. CLIAs for PIGL


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

2 InterPro protein domains:
 IPR003737 GlcNAc_PIno_de-acetylase
 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


PIGL for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

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 (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0000225N-acetylglucosaminylphosphatidylinositol deacetylase activity NAS10085243
     
PIGL for ontologies           About GeneDecksing


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

Animal Models:
   inGenious Targeting Laboratory - Custom generated mouse model solutions for PIGL 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PIGL

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PIGL 
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PIGL 

miRNA
Products:
    
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PIGL
1 QIAGEN miScript miRNA Assays for microRNA that regulate PIGL:
hsa-miR-513b
SwitchGear 3'UTR luciferase reporter plasmidPIGL 3' UTR sequence
Inhib. RNA
Products:
    
Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for PIGL
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PIGL

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for PIGL
Sirion Biotech Customized adenovirus for overexpression of PIGL

Clone
Products:
     
Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
OriGene clones in human, mouse for PIGL (see all 7)
OriGene ORF clones in mouse, rat for PIGL
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: PIGL (NM_004278)
Browse Sino Biological Human cDNA Clones
DNA2.0 Custom Codon Optimized Gene Synthesis Service for PIGL
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PIGL
Sirion Biotech Customized lentivirus for stable overexpression of PIGL 
                     Customized lentivirus expression plasmids for stable overexpression of PIGL 

Cell Line
Products:
     
GenScript Custom overexpressing Cell Line Services for PIGL
Search LifeMap BioReagents cell lines for PIGL
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PIGL


(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section

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 proteins0.79
Synthesis of glycosylphosphatidylinositol (GPI)0.64
Glycosylphosphatidylinositol(GPI)-anchor biosynthesis0.79
2Asparagine N-linked glycosylation
Post-translational protein modification0.44
Metabolism of proteins0.35
3Metabolism
Metabolic pathways0.40

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


4        Reactome Pathways for PIGL
    Metabolism of proteins
Post-translational modification: synthesis of GPI-anchored proteins
Post-translational protein modification
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


PIGL for pathways           About GeneDecksing

Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PIGL

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

5/8 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
About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    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--

PIGL for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PIGL

10/900 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--

Search CenterWatch for drugs/clinical trials and news about PIGL

(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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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 ENST00000395844
ENST00000225609(uc002gpv.3) ENST00000470116 ENST00000585034(uc010vwd.2)
ENST00000477745 ENST00000489009 ENST00000463810 ENST00000580201 ENST00000596678
ENST00000488375 ENST00000431149 ENST00000414755
miRNA
Products:
     
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PIGL
1 QIAGEN miScript miRNA Assays for microRNA that regulate PIGL:
hsa-miR-513b
SwitchGear 3'UTR luciferase reporter plasmidPIGL 3' UTR sequence
Inhib. RNA
Products:
     
Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for PIGL
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PIGL
Clone
Products:
     
OriGene clones in human, mouse for PIGL (see all 7)
OriGene ORF clones in mouse, rat for PIGL
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: PIGL (NM_004278)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for PIGL
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PIGL
Sirion Biotech Customized lentivirus for stable overexpression of PIGL 
                     Customized lentivirus expression plasmids for stable overexpression of PIGL 
Primer
Products:
    
OriGene qPCR primer pairs and template standards for PIGL
OriGene qSTAR qPCR primer pairs in human, mouse for PIGL
SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PIGL
  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PIGL
  QIAGEN 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 

24/86 AceView cDNA sequences (see all 86):

BF593304 Z38346 AB017165 BM836750 AU098701 AI091675 AI089509 AI637838 
BX280602 AI383617 BP380329 AA515381 NM_004278 BP372744 BI833840 BQ013049 
BI753538 BF108861 AK023469 AA129916 AA702443 AA909355 BI753401 BF436244 

GeneLoc Exon Structure

5/8 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

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


See PIGL Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PIGL

SOURCE GeneReport for Unigene cluster: Hs.499793
    SABiosciences Custom PCR Arrays for PIGL
Primer
Products:
OriGene qPCR primer pairs and template standards for PIGL
OriGene qSTAR qPCR primer pairs in human, mouse for PIGL
SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PIGL
QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PIGL
QIAGEN 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)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for PIGL gene from 8/20 species (see all 20)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Pigl1 , 5 phosphatidylinositol glycan anchor biosynthesis, class L less1, 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 L less 66.11(n)
61.67(a)
  417600  XM_415845.3  XP_415845.3 
zebrafish
(Danio rerio)
Actinopterygii pigl1 phosphatidylinositol glycan anchor biosynthesis, class L less 59.17(n)
55.98(a)
  561471  XM_684869.3  XP_689961.2 
fruit fly
(Drosophila melanogaster)
Insecta CG44331 , 3 CG44331 41(a)3
51.05(n)1
46.38(a)1
  92C13
423881  NM_142600.21  NP_650857.21 
worm
(Caenorhabditis elegans)
Secernentea Y52B11C.16
Protein Y52B11C.1
34(a)
1 ↔ 1
I(11163811-11168736)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPI12(YMR281W)4
GPI121
ER membrane protein involved in the second step of glycosylphosphatidylinositol (GPI) anchor assembly, the de-N-acetylation of the N-acetylglucosaminylphosphatidylinositol intermediate; functional homolog of human PIG-Lp less4
Gpi12p1
43.23(n)1
38.12(a)1
  13(832339-833253)4
8553241, 4  NP_014008.11, 4 
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G581301 N-acetylglucosaminylphosphatidylinositol de-N-acetylase family protein less 44.6(n)
35.21(a)
  824982  NM_001035805.1  NP_001030882.1 
rice
(Oryza sativa)
Liliopsida Os04g06788001 hypothetical protein 45.04(n)
38.02(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)
About This Section
  --

(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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/2116 SNPs in PIGL are shown (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
SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 605947    OMIM disorders: --

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

  • 6 diseases for PIGL:    About MalaCards
    coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome    babesiosis    coloboma    sleeping sickness
    congenital heart defect    mental retardation

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

    PIGL for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for PIGL gene, integrated from 9 sources (see all 15):
    (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. (1999)
    2. Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. (PubMed id 22444671)1, 2 Ng B.G.... Freeze H.H. (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. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (2004)
    6. Age of onset of amyotrophic lateral sclerosis is modul ated by a locus on 1p34.1. (PubMed id 22959728)1  ....Zheng J.G. (2013)
    7. 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. (2007)
    8. 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. (2007)
    9. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 9487 HGNC: 8966 AceView: PIGL Ensembl:ENSG00000108474 euGenes: HUgn9487
    ECgene: PIGL Kegg: 9487 H-InvDB: PIGL

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for PIGL  
     OriGene qPCR primer pairs and template standards for PIGL   Browse OriGene Protein Over-expression Lysates  
     OriGene MassSpec something-or-other for PIGL   OriGene clones in human, mouse for PIGL  
     OriGene qSTAR qPCR primer pairs in human, mouse for PIGL   OriGene Purified Protein for PIGL  
     OriGene ORF clones in mouse, rat for PIGL   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for PIGL   OriGene Custom Protein Services for PIGL  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat PIGL
     QIAGEN SeqTarget long-range PCR primers for resequencing PIGL
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PIGL
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PIGL
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PIGL
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PIGL
     GenScript Custom Purified and Recombinant Proteins Services for PIGL GenScript cDNA clones with any tag delivered in your preferred vector for PIGL
     GenScript Custom Assay Services for PIGL GenScript Custom Superior Antibodies Services for PIGL
     GenScript Custom overexpressing Cell Line Services for PIGL CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in PIGL promoter
     Search Chromatin IP Primers for PIGL
     RT2 qPCR Primer Assay in human, mouse, rat PIGL
     Search GNC Networks for PIGL
     SABiosciences Custom PCR Arrays for PIGL
     Search Tocris compounds for PIGL
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     PIGL antibodies
     PIGL proteins
     Antibodies for PIGL
     See all of Abcam's Antibodies, Kits and Proteins for PIGL
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for PIGL
     Antibodies for PIGL
     ELISAs for PIGL
     CLIAs for PIGL
     Search LifeMap BioReagents cell lines for PIGL
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PIGL
     SwitchGear 3'UTR luciferase reporter plasmids for PIGL
     SwitchGear Promoter luciferase reporter plasmids for PIGL
     Search ThermoFisher Antibodies for PIGL
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PIGL
     inGenious Targeting Laboratory - Custom generated mouse model solutions for PIGL
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PIGL
    Customized:
     lentivirus for stable overexpression of PIGL
     lentivirus expression plasmids for stable overexpression of PIGL
     adenovirus for overexpression of PIGL
     LSBio Antibodies in human, mouse, rat for PIGL
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes       gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4