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Aliases for PIGL Gene

Aliases for PIGL Gene

  • Phosphatidylinositol Glycan Anchor Biosynthesis, Class L 2 3
  • Phosphatidylinositol-Glycan Biosynthesis Class L Protein 3 4
  • N-Acetylglucosaminylphosphatidylinositol Deacetylase 2 3
  • Phosphatidylinositol Glycan, Class L 2 3
  • PIG-L 3 4
  • EC 3.5.1.89 4
  • CHIME 3

External Ids for PIGL Gene

Previous GeneCards Identifiers for PIGL Gene

  • GC17P016482
  • GC17P017232
  • GC17P016063
  • GC17P016321
  • GC17P016061
  • GC17P016120
  • GC17P015989

Summaries for PIGL Gene

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 chime syndrome and hyperphosphatasia-intellectual disability syndrome. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism. GO annotations related to this gene include N-acetylglucosaminylphosphatidylinositol deacetylase activity.

UniProtKB/Swiss-Prot for PIGL Gene

  • Involved in the second step of GPI biosynthesis. De-N-acetylation of N-acetylglucosaminyl-phosphatidylinositol

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIGL Gene

Genomics for PIGL Gene

Regulatory Elements for PIGL Gene

Epigenetics Products

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

Genomic Location for PIGL Gene

Chromosome:
17
Start:
16,217,191 bp from pter
End:
16,351,797 bp from pter
Size:
134,607 bases
Orientation:
Plus strand

Genomic View for PIGL Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PIGL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIGL Gene

Proteins for PIGL Gene

  • Protein details for PIGL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2B2-PIGL_HUMAN
    Recommended name:
    N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase
    Protein Accession:
    Q9Y2B2
    Secondary Accessions:
    • A8KA67
    • B4DYN4

    Protein attributes for PIGL Gene

    Size:
    252 amino acids
    Molecular mass:
    28531 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PIGL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIGL Gene

Proteomics data for PIGL Gene at MOPED

Post-translational modifications for PIGL Gene

No Post-translational modifications

No data available for DME Specific Peptides for PIGL Gene

Domains & Families for PIGL Gene

Gene Families for PIGL Gene

Protein Domains for PIGL Gene

Suggested Antigen Peptide Sequences for PIGL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y2B2

UniProtKB/Swiss-Prot:

PIGL_HUMAN :
  • Belongs to the PIGL family.
Family:
  • Belongs to the PIGL family.
genes like me logo Genes that share domains with PIGL: view

Function for PIGL Gene

Molecular function for PIGL Gene

GENATLAS Biochemistry:
phosphatidylinositol glycan,class L,S cerevisiae homolog,N-acetylglucosaminylphosphatidylinositol-N-acetylase,essential in glycosylphosphatidylinositol biosynthesis
UniProtKB/Swiss-Prot CatalyticActivity:
6-(N-acetyl-alpha-D-glucosaminyl)-1-phosphatidyl-1D-myo-inositol + H(2)O = 6-(alpha-D-glucosaminyl)-1-phosphatidyl-1D-myo-inositol + acetate
UniProtKB/Swiss-Prot Function:
Involved in the second step of GPI biosynthesis. De-N-acetylation of N-acetylglucosaminyl-phosphatidylinositol

Enzyme Numbers (IUBMB) for PIGL Gene

Gene Ontology (GO) - Molecular Function for PIGL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000225 N-acetylglucosaminylphosphatidylinositol deacetylase activity NAS 10085243
genes like me logo Genes that share ontologies with PIGL: view
genes like me logo Genes that share phenotypes with PIGL: view

Animal Model Products

miRNA for PIGL Gene

miRTarBase miRNAs that target PIGL

miRNA Products

Inhibitory RNA Products

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

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for PIGL Gene

Localization for PIGL Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIGL Gene

Endoplasmic reticulum membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PIGL Gene COMPARTMENTS Subcellular localization image for PIGL gene
Compartment Confidence
endoplasmic reticulum 4
cytosol 2
nucleus 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PIGL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PIGL: view

Pathways & Interactions for PIGL Gene

genes like me logo Genes that share pathways with PIGL: view

UniProtKB/Swiss-Prot Q9Y2B2-PIGL_HUMAN

  • Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis

Interacting Proteins for PIGL Gene

Gene Ontology (GO) - Biological Process for PIGL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006501 C-terminal protein lipidation TAS --
GO:0006506 GPI anchor biosynthetic process NAS 10085243
GO:0016254 preassembly of GPI anchor in ER membrane TAS --
GO:0043687 post-translational protein modification TAS --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with PIGL: view

No data available for SIGNOR curated interactions for PIGL Gene

Drugs & Compounds for PIGL Gene

(4) Drugs for PIGL Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
acetic acid Approved Nutra Full agonist, Agonist 80
Sphingosine Experimental Pharma 0
sphinganine Pharma 0
sphingosine 1-phosphate Pharma Agonist Endogenous agonist at S1P1-5 0

(842) Additional Compounds for PIGL Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Dehydrosphinganine
  • (2S)-2-amino-1-hydroxyoctadecan-3-one
  • 1-Hydroxy-2-amino-3-oxo-octadecane
  • 2-Amino-1-hydroxy-3-Octadecanone
  • 3-Dehydro-D-sphinganine
  • 3-Dehydrosphinganine
16105-69-4
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
244215-65-4
genes like me logo Genes that share compounds with PIGL: view

Transcripts for PIGL Gene

Unigene Clusters for PIGL Gene

Phosphatidylinositol glycan anchor biosynthesis, class L:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

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

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PIGL Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9
SP1: - - - - - - -
SP2: - - -
SP3: - - - - -
SP4: - - - - - - - -
SP5: - -
SP6: - - - -
SP7: - -
SP8:

Relevant External Links for PIGL Gene

GeneLoc Exon Structure for
PIGL
ECgene alternative splicing isoforms for
PIGL

Expression for PIGL Gene

mRNA expression in normal human tissues for PIGL Gene

Protein differential expression in normal tissues from HIPED for PIGL Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PIGL Gene



SOURCE GeneReport for Unigene cluster for PIGL Gene Hs.499793

genes like me logo Genes that share expression patterns with PIGL: view

Protein tissue co-expression partners for PIGL Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PIGL Gene

Orthologs for PIGL Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PIGL Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PIGL 35
  • 82 (n)
  • 77.22 (a)
PIGL 36
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PIGL 35
  • 87.76 (n)
  • 83.97 (a)
PIGL 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pigl 35
  • 83.07 (n)
  • 79.37 (a)
Pigl 16
Pigl 36
  • 79 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PIGL 35
  • 99.74 (n)
  • 99.21 (a)
PIGL 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pigl 35
  • 81.88 (n)
  • 77.38 (a)
oppossum
(Monodelphis domestica)
Mammalia PIGL 36
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PIGL 36
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIGL 35
  • 69.9 (n)
  • 66.29 (a)
PIGL 36
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pigl 35
  • 61.36 (n)
  • 58.37 (a)
zebrafish
(Danio rerio)
Actinopterygii pigl 35
  • 55.99 (n)
  • 52.38 (a)
pigl 36
  • 43 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG4433 37
  • 41 (a)
CG4433 35
  • 51.53 (n)
  • 46.38 (a)
CG4433 36
  • 26 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001955 35
  • 53.04 (n)
  • 45.19 (a)
worm
(Caenorhabditis elegans)
Secernentea Y52B11C.1 35
  • 44.14 (n)
  • 39.81 (a)
Y52B11C.1 36
  • 35 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL120W 35
  • 43.43 (n)
  • 38.1 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D01430g 35
  • 40.49 (n)
  • 36.13 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPI12 35
  • 43.79 (n)
  • 38.24 (a)
GPI12 36
  • 26 (a)
OneToOne
GPI12 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G58130 35
  • 44.34 (n)
  • 33.96 (a)
rice
(Oryza sativa)
Liliopsida Os04g0678800 35
  • 44.63 (n)
  • 36.78 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU09510 35
  • 47.92 (n)
  • 43.75 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gpi12 35
  • 44.64 (n)
  • 39.13 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 33 (a)
OneToOne
Species with no ortholog for PIGL:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • 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)
  • lizard (Anolis carolinensis)
  • 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 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)
  • wheat (Triticum aestivum)

Evolution for PIGL Gene

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

Paralogs for PIGL Gene

No data available for Paralogs for PIGL Gene

Variants for PIGL Gene

Sequence variations from dbSNP and Humsavar for PIGL Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs15739 -- 16,325,918(+) TTCAG(A/G)TCCAA utr-variant-3-prime, nc-transcript-variant
rs178785 -- 16,232,975(-) acacc(A/C/G)ggcta intron-variant
rs178786 -- 16,229,996(-) tagtc(C/T)cagct intron-variant
rs178787 -- 16,229,730(-) gtcat(C/T)aggga intron-variant
rs178788 -- 16,228,654(-) tccca(C/G/T)cactt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PIGL Gene

Variant ID Type Subtype PubMed ID
esv2715702 CNV Deletion 23290073
nsv522169 CNV Gain 19592680
dgv3063n71 CNV Loss 21882294
nsv907715 CNV Gain 21882294
nsv907717 CNV Gain 21882294
nsv907718 CNV Loss 21882294
nsv528263 CNV Loss 19592680
nsv907719 CNV Gain 21882294
nsv1994 CNV Insertion 18451855
esv2666670 CNV Deletion 23128226

Variation tolerance for PIGL Gene

Residual Variation Intolerance Score: 76.11% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.18; 23.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PIGL Gene

HapMap Linkage Disequilibrium report
PIGL
Human Gene Mutation Database (HGMD)
PIGL

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

Disorders for PIGL Gene

MalaCards: The human disease database

(4) MalaCards diseases for PIGL Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
chime syndrome
  • zunich neuroectodermal syndrome
hyperphosphatasia-intellectual disability syndrome
  • mabry syndrome
coloboma
  • coloboma of macula
congenital heart disease
  • congestive heart failure
- elite association
Search PIGL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PIGL_HUMAN
  • 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. {ECO:0000269 PubMed:22444671}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PIGL

Genetic Association Database (GAD)
PIGL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PIGL
genes like me logo Genes that share disorders with PIGL: view

No data available for Genatlas for PIGL Gene

Publications for PIGL Gene

  1. An efficient method to express GPI-anchor proteins in insect cells. (PMID: 18029261) Shams-Eldin H. … Schwarz R.T. (Biochem. Biophys. Res. Commun. 2008) 23 67
  2. Subcellular localization and targeting of N-acetylglucosaminyl phosphatidylinositol de-N-acetylase, the second enzyme in the glycosylphosphatidylinositol biosynthetic pathway. (PMID: 14742432) Pottekat A. … Menon A.K. (J. Biol. Chem. 2004) 23 67
  3. Mammalian PIG-L and its yeast homologue Gpi12p are N- acetylglucosaminylphosphatidylinositol de-N-acetylases essential in glycosylphosphatidylinositol biosynthesis. (PMID: 10085243) Watanabe R. … Kinoshita T. (Biochem. J. 1999) 2 67
  4. Substrate specificity of the N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase of glycosylphosphatidylinositol membrane anchor biosynthesis in African trypanosomes and human cells. (PMID: 9359849) Sharma D.K. … Ferguson M.A. (Biochem. J. 1997) 23 67
  5. Partial purification and characterization of the N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase of glycosylphosphatidylinositol anchor biosynthesis in African trypanosomes. (PMID: 8206949) Milne K.G. … Ferguson M.A. (J. Biol. Chem. 1994) 23 67

Products for PIGL Gene

Sources for PIGL Gene

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