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] See more...

Aliases for PIGL Gene

Aliases for PIGL Gene

  • Phosphatidylinositol Glycan Anchor Biosynthesis Class L 2 3 5
  • N-Acetylglucosaminyl-Phosphatidylinositol De-N-Acetylase 3 4
  • 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 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome and Hyperphosphatasia-Intellectual Disability Syndrome. Among its related pathways are Metabolism of proteins and Glycosylphosphatidylinositol (GPI)-anchor biosynthesis. Gene Ontology (GO) annotations related to this gene include N-acetylglucosaminylphosphatidylinositol deacetylase activity.

UniProtKB/Swiss-Prot Summary for PIGL Gene

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

Additional gene information for PIGL Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PIGL Gene

Genomics for PIGL Gene

GeneHancer (GH) Regulatory Elements for PIGL Gene

Promoters and enhancers for PIGL Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PIGL on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PIGL

Top Transcription factor binding sites by QIAGEN in the PIGL gene promoter:
  • AML1a
  • AP-1
  • AP-2gamma
  • ATF6
  • Cart-1
  • Evi-1
  • FOXL1
  • Hlf
  • Pax-5
  • TBP

Genomic Locations for PIGL Gene

Genomic Locations for PIGL Gene
chr17:16,217,191-16,351,797
(GRCh38/hg38)
Size:
134,607 bases
Orientation:
Plus strand
chr17:16,120,505-16,252,115
(GRCh37/hg19)
Size:
131,611 bases
Orientation:
Plus strand

Genomic View for PIGL Gene

Genes around PIGL on UCSC Golden Path with GeneCards custom track

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

Post-translational modifications for PIGL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PIGL Gene

Domains & Families for PIGL Gene

Gene Families for PIGL Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for PIGL Gene

Blocks:
  • LmbE-like protein
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PIGL Gene

GenScript: Design optimal peptide antigens:
  • Phosphatidylinositol-glycan biosynthesis class L protein (PIGL_HUMAN)

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

UniProtKB/Swiss-Prot Function:
Involved in the second step of GPI biosynthesis. De-N-acetylation of N-acetylglucosaminyl-phosphatidylinositol.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 6-(N-acetyl-alpha-D-glucosaminyl)-1-phosphatidyl-1D-myo-inositol + H2O = a 6-(alpha-D-glucosaminyl)-1-phosphatidyl-1D-myo-inositol + acetate; Xref=Rhea:RHEA:11660, ChEBI:CHEBI:15377, ChEBI:CHEBI:30089, ChEBI:CHEBI:57265, ChEBI:CHEBI:57997; EC=3.5.1.89;.
GENATLAS Biochemistry:
phosphatidylinositol glycan,class L,S cerevisiae homolog,N-acetylglucosaminylphosphatidylinositol-N-acetylase,essential in glycosylphosphatidylinositol biosynthesis

Enzyme Numbers (IUBMB) for PIGL Gene

Phenotypes From GWAS Catalog 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 TAS --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PIGL: view
genes like me logo Genes that share phenotypes with PIGL: view

Human Phenotype Ontology for PIGL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PIGL Gene

MGI Knock Outs for PIGL:
  • Pigl Pigl<tm1b(KOMP)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for PIGL

CRISPR Products

miRNA for PIGL Gene

miRTarBase miRNAs that target PIGL

Clone Products

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PIGL gene
Compartment Confidence
endoplasmic reticulum 4
extracellular 3
cytosol 3
plasma membrane 2
nucleus 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PIGL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
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.

Gene Ontology (GO) - Biological Process for PIGL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006506 GPI anchor biosynthetic process NAS,IEA 10085243
GO:0016254 preassembly of GPI anchor in ER membrane 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

(6) Drugs for PIGL Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
acetic acid Approved Pharma Full agonist, Agonist 141
Water Approved Pharma 0
Phytosphingosine Experimental Pharma 0
Sphingosine Experimental Pharma 0
sphinganine Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Dehydrosphinganine
  • 3-dehydro-D-Sphinganine
  • 3-Ketodihydrosphingosine
  • 3-Ketosphinganine
  • (2S)-2-amino-1-Hydroxyoctadecan-3-one
  • 1-Hydroxy-2-amino-3-oxo-octadecane
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

mRNA/cDNA for PIGL Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

Expression for PIGL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for PIGL Gene



Protein tissue co-expression partners for PIGL Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PIGL

SOURCE GeneReport for Unigene cluster for PIGL Gene:

Hs.499793

Evidence on tissue expression from TISSUES for PIGL Gene

  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PIGL Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tooth
Thorax:
  • breast
  • clavicle
  • heart
  • heart valve
  • lung
Abdomen:
  • biliary tract
  • intestine
  • kidney
  • large intestine
  • liver
Pelvis:
  • anus
  • rectum
  • ureter
  • urinary bladder
Limb:
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with PIGL: view

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
chimpanzee
(Pan troglodytes)
Mammalia PIGL 31 30
  • 99.74 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PIGL 31 30
  • 87.76 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pigl 17 31 30
  • 83.07 (n)
cow
(Bos Taurus)
Mammalia PIGL 31 30
  • 82 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pigl 30
  • 81.88 (n)
oppossum
(Monodelphis domestica)
Mammalia PIGL 31
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PIGL 31
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIGL 31 30
  • 69.9 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pigl 30
  • 61.36 (n)
zebrafish
(Danio rerio)
Actinopterygii pigl 31 30
  • 55.99 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001955 30
  • 53.04 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4433 31 32 30
  • 51.53 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y52B11C.1 31 30
  • 44.14 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPI12 33 31 30
  • 43.79 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL120W 30
  • 43.43 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D01430g 30
  • 40.49 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G58130 30
  • 44.34 (n)
rice
(Oryza sativa)
Liliopsida Os04g0678800 30
  • 44.63 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU09510 30
  • 47.92 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gpi12 30
  • 44.64 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 33 (a)
OneToOne
Species where no ortholog for PIGL was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PIGL: view image

Paralogs for PIGL Gene

No data available for Paralogs for PIGL Gene

Variants for PIGL Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PIGL Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
30547 Pathogenic: Zunich neuroectodermal syndrome 16,313,546(+) G/A SPLICE_ACCEPTOR_VARIANT
638452 Uncertain Significance: Zunich neuroectodermal syndrome 16,233,998(+) G/A MISSENSE_VARIANT
647559 Uncertain Significance: not provided 16,299,898(+) G/A MISSENSE_VARIANT
rs1057518948 Uncertain Significance: Scrotal hypoplasia; Hypertelorism; Low-set ears; Postaxial hand polydactyly; Premature birth; Bilateral cleft lip and palate; Wide intermamillary distance; Camptodactyly of finger 16,217,402(+) C/A MISSENSE_VARIANT
rs1064794861 Likely Pathogenic: not provided 16,325,860(+) TC/T FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for PIGL Gene

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

Variant ID Type Subtype PubMed ID
esv2666670 CNV deletion 23128226
esv2715702 CNV deletion 23290073
esv3640099 CNV loss 21293372
nsv1063764 CNV loss 25217958
nsv1134604 CNV deletion 24896259
nsv1994 CNV insertion 18451855
nsv522169 CNV gain 19592680
nsv528263 CNV loss 19592680

Variation tolerance for PIGL Gene

Residual Variation Intolerance Score: 76.1% 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)

Additional Variant Information for PIGL Gene

Human Gene Mutation Database (HGMD)
PIGL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PIGL

SNP Genotyping and Copy Number Assay Products

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

Disorders for PIGL Gene

MalaCards: The human disease database

(12) MalaCards diseases for PIGL Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

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.

Additional Disease Information for 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. Mammalian PIG-L and its yeast homologue Gpi12p are N-acetylglucosaminylphosphatidylinositol de-N-acetylases essential in glycosylphosphatidylinositol biosynthesis. (PMID: 10085243) Watanabe R … Kinoshita T (The Biochemical journal 1999) 2 3 4 54
  2. Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. (PMID: 22444671) Ng BG … Freeze HH (American journal of human genetics 2012) 3 4 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. Subcellular localization and targeting of N-acetylglucosaminyl phosphatidylinositol de-N-acetylase, the second enzyme in the glycosylphosphatidylinositol biosynthetic pathway. (PMID: 14742432) Pottekat A … Menon AK (The Journal of biological chemistry 2004) 3 23 54

Products for PIGL Gene

Sources for PIGL Gene