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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
  • CHIME 3 6
  • PIG-L 3 4
  • N-Acetylglucosaminyl-Phosphatidylinositol De-N-Acetylase 3
  • EC 3.5.1.89 4

External Ids for PIGL Gene

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 babesiosis. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. 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

Genomic Location for PIGL Gene

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

Regulatory Elements 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

Other Protein References for PIGL Gene

No data available for DME Specific Peptides for PIGL Gene

Domains for PIGL Gene

Gene Families for PIGL Gene

HGNC:
  • PIG :Phosphatidylinositol glycan anchor biosynthesis

Protein Domains for PIGL Gene

UniProtKB/Swiss-Prot:

PIGL_HUMAN
Family:
  • Belongs to the PIGL family.:
    • Q9Y2B2
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

Phenotypes for PIGL Gene

GenomeRNAi human phenotypes for PIGL:
genes like me logo Genes that share phenotypes with PIGL: view

No data available for Animal Models , miRNA , Transcription Factor Targeting 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 5
extracellular 2
cytosol 1
nucleus 1
plasma membrane 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 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

Compounds for PIGL Gene

(900) HMDB Compounds for PIGL Gene

Compound Synonyms Cas Number PubMed IDs
3-Dehydrosphinganine
  • 1-Hydroxy-2-amino-3-oxo-octadecane
16105-69-4
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • Sulfatide (d18:1/12:0)
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • Sulfatide (d18:1/14:0)
Not Available
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • Sulfatide (d18:1/16:0)
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • Sulfatide (d18:1/18:0)
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:

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

Integrated Proteomics: protein expression 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 expressions with PIGL: view

Orthologs for PIGL Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PIGL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PIGL 36
  • 99.74 (n)
  • 99.21 (a)
PIGL 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PIGL 36
  • 82 (n)
  • 77.22 (a)
PIGL 37
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PIGL 36
  • 87.76 (n)
  • 83.97 (a)
PIGL 37
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pigl 36
  • 83.07 (n)
  • 79.37 (a)
Pigl 16
Pigl 37
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PIGL 37
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PIGL 37
  • 56 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pigl 36
  • 81.88 (n)
  • 77.38 (a)
chicken
(Gallus gallus)
Aves PIGL 36
  • 69.9 (n)
  • 66.29 (a)
PIGL 37
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pigl 36
  • 61.36 (n)
  • 58.37 (a)
zebrafish
(Danio rerio)
Actinopterygii pigl 36
  • 55.99 (n)
  • 52.38 (a)
pigl 37
  • 43 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001955 36
  • 53.04 (n)
  • 45.19 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG4433 36
  • 51.53 (n)
  • 46.38 (a)
CG4433 37
  • 26 (a)
OneToOne
CG4433 38
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea Y52B11C.1 36
  • 44.14 (n)
  • 39.81 (a)
Y52B11C.1 37
  • 35 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL120W 36
  • 43.43 (n)
  • 38.1 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPI12 36
  • 43.79 (n)
  • 38.24 (a)
GPI12 37
  • 26 (a)
OneToOne
GPI12 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D01430g 36
  • 40.49 (n)
  • 36.13 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G58130 36
  • 44.34 (n)
  • 33.96 (a)
rice
(Oryza sativa)
Liliopsida Os04g0678800 36
  • 44.63 (n)
  • 36.78 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU09510 36
  • 47.92 (n)
  • 43.75 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gpi12 36
  • 44.64 (n)
  • 39.13 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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(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/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

Relevant External Links for PIGL Gene

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

Disorders for PIGL Gene

(1) OMIM Diseases for PIGL Gene (605947)

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.

(1) University of Copenhagen DISEASES for PIGL Gene

Relevant External Links for PIGL

Genetic Association Database (GAD)
PIGL
genes like me logo Genes that share disorders with PIGL: view

Publications for PIGL Gene

  1. 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 3 4
  2. Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. (PMID: 22444671) Ng B.G. … Freeze H.H. (Am. J. Hum. Genet. 2012) 3 4
  3. 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) 3 23
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for PIGL Gene

Sources for PIGL Gene

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