This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI) lipid anchor biosynthesis. The GPI lipid anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. The encoded protein is one subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphati... See more...

Aliases for PIGC Gene

Aliases for PIGC Gene

  • Phosphatidylinositol Glycan Anchor Biosynthesis Class C 2 3 5
  • Phosphatidylinositol N-Acetylglucosaminyltransferase Subunit C 3 4
  • PIG-C 3 4
  • GPI2 3 4
  • Phosphatidylinositol-Glycan Biosynthesis, Class C Protein 3
  • Phosphatidylinositol-Glycan Biosynthesis Class C Protein 4
  • Phosphatidylinositol N-Acetylglucosaminyltransferase 2
  • Phosphatidylinositol Glycan, Class C 2
  • EC 2.4.1.198 4
  • GPIBD16 3
  • MRT62 3
  • PIGC 5

External Ids for PIGC Gene

Previous GeneCards Identifiers for PIGC Gene

  • GC01M169974
  • GC01M168039
  • GC01M168991
  • GC01M169649
  • GC01M169142
  • GC01M170628
  • GC01M170677
  • GC01M143634

Summaries for PIGC Gene

Entrez Gene Summary for PIGC Gene

  • This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI) lipid anchor biosynthesis. The GPI lipid anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. The encoded protein is one subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. Two alternatively spliced transcripts that encode the same protein have been found for this gene. A pseudogene on chromosome 11 has also been characterized. [provided by RefSeq, Jul 2008]

GeneCards Summary for PIGC Gene

PIGC (Phosphatidylinositol Glycan Anchor Biosynthesis Class C) is a Protein Coding gene. Diseases associated with PIGC include Glycosylphosphatidylinositol Biosynthesis Defect 16 and Autosomal Recessive Non-Syndromic Intellectual Disability. Among its related pathways are Glycosylphosphatidylinositol (GPI)-anchor biosynthesis and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol N-acetylglucosaminyltransferase activity.

UniProtKB/Swiss-Prot Summary for PIGC Gene

  • Involved in GPI anchor biosynthesis (PubMed:8806613, PubMed:27694521). Part of the complex catalyzing the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis (ECO:0000269|PubMed:27694521).

Gene Wiki entry for PIGC Gene

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

Genomics for PIGC Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PIGC 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 PIGC on the GeneHancer Hub at the UCSC Golden Path

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

Top Transcription factor binding sites by QIAGEN in the PIGC gene promoter:
  • AML1a
  • CUTL1
  • E47
  • POU3F1
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • STAT5A

Genomic Locations for PIGC Gene

Genomic Locations for PIGC Gene
chr1:172,370,189-172,444,086
(GRCh38/hg38)
Size:
73,898 bases
Orientation:
Minus strand
chr1:172,339,329-172,413,230
(GRCh37/hg19)
Size:
73,902 bases
Orientation:
Minus strand

Genomic View for PIGC Gene

Genes around PIGC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PIGC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PIGC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIGC Gene

Proteins for PIGC Gene

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

    Protein Symbol:
    Q92535-PIGC_HUMAN
    Recommended name:
    Phosphatidylinositol N-acetylglucosaminyltransferase subunit C
    Protein Accession:
    Q92535
    Secondary Accessions:
    • O14491

    Protein attributes for PIGC Gene

    Size:
    297 amino acids
    Molecular mass:
    33583 Da
    Quaternary structure:
    • Associates with PIGA, PIGH, PIGP, PIGQ and DPM2. The latter is not essential for activity.

neXtProt entry for PIGC Gene

Post-translational modifications for PIGC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PIGC Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PIGC Gene

Domains & Families for PIGC Gene

Gene Families for PIGC Gene

Protein Domains for PIGC Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PIGC Gene

GenScript: Design optimal peptide antigens:
  • Phosphatidylinositol-glycan biosynthesis class C protein (PIGC_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92535

UniProtKB/Swiss-Prot:

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

Function for PIGC Gene

Molecular function for PIGC Gene

UniProtKB/Swiss-Prot Function:
Involved in GPI anchor biosynthesis (PubMed:8806613, PubMed:27694521). Part of the complex catalyzing the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis (ECO:0000269|PubMed:27694521).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + UDP-N-acetyl-alpha-D-glucosamine = a 6-(N-acetyl-alpha-D-glucosaminyl)-1-phosphatidyl-1D-myo-inositol + H(+) + UDP; Xref=Rhea:RHEA:14789, ChEBI:CHEBI:15378, ChEBI:CHEBI:57265, ChEBI:CHEBI:57705, ChEBI:CHEBI:57880, ChEBI:CHEBI:58223; EC=2.4.1.198;.
GENATLAS Biochemistry:
glycosylphosphatidylinositol (GPI) anchor synthesis,class C

Enzyme Numbers (IUBMB) for PIGC Gene

Phenotypes From GWAS Catalog for PIGC Gene

Gene Ontology (GO) - Molecular Function for PIGC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity TAS 8806613
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0017176 phosphatidylinositol N-acetylglucosaminyltransferase activity IEA --
genes like me logo Genes that share ontologies with PIGC: view
genes like me logo Genes that share phenotypes with PIGC: view

Human Phenotype Ontology for PIGC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for PIGC Gene

miRTarBase miRNAs that target PIGC

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIGC

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

Localization for PIGC Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIGC Gene

Endoplasmic reticulum membrane. Multi-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 PIGC gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1
lysosome 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for PIGC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000506 glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex IBA,IDA 10944123
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 PIGC: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PIGC Gene

Pathways & Interactions for PIGC Gene

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

UniProtKB/Swiss-Prot Q92535-PIGC_HUMAN

  • Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.

Gene Ontology (GO) - Biological Process for PIGC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006506 GPI anchor biosynthetic process TAS,IMP 27694521
GO:0016254 preassembly of GPI anchor in ER membrane TAS --
genes like me logo Genes that share ontologies with PIGC: view

No data available for SIGNOR curated interactions for PIGC Gene

Drugs & Compounds for PIGC Gene

(6) Drugs for PIGC Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phytosphingosine Experimental Pharma 0
Sphingosine Experimental Pharma 0
Uridine 5'-diphosphate Experimental Pharma 0
sphinganine Pharma 0
Sphingosine-1-phosphate Pharma Agonist, Full agonist endogenous second messenger and ligand for S1PR1, Endogenous agonist at S1P1-5 0

(896) Additional Compounds for PIGC Gene - From: HMDB and Novoseek

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 PIGC: view

Transcripts for PIGC Gene

mRNA/cDNA for PIGC Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIGC

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

No ASD Table

Relevant External Links for PIGC Gene

GeneLoc Exon Structure for
PIGC

Expression for PIGC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PIGC Gene

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



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

SOURCE GeneReport for Unigene cluster for PIGC Gene:

Hs.188456

Evidence on tissue expression from TISSUES for PIGC Gene

  • Lung(4.3)
  • Skin(2.1)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with PIGC: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PIGC Gene

Orthologs for PIGC Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PIGC Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PIGC 30 31
  • 99.1 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PIGC 30 31
  • 92.03 (n)
OneToMany
-- 31
  • 88 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia PIGC 30 31
  • 90.12 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PIGC 31
  • 89 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PIGC 31
  • 88 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Pigc 30 17 31
  • 86.53 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pigc 30
  • 86.53 (n)
Chicken
(Gallus gallus)
Aves PIGC 30
  • 72.52 (n)
Lizard
(Anolis carolinensis)
Reptilia PIGC 31
  • 78 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC101732903 30
  • 71.28 (n)
Zebrafish
(Danio rerio)
Actinopterygii pigc 30 31
  • 59.43 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG12077 30 31
  • 48.07 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005923 30
  • 47.86 (n)
Worm
(Caenorhabditis elegans)
Secernentea T20D3.8 30 31
  • 48.26 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons SETH1 30
  • 46.35 (n)
Rice
(Oryza sativa)
Liliopsida Os02g0622200 30
  • 46.08 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gpi2 30
  • 44.08 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU02137 30
  • 43.02 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 38 (a)
OneToOne
Species where no ortholog for PIGC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • 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 Vase (Ciona intestinalis)
  • 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 PIGC Gene

ENSEMBL:
Gene Tree for PIGC (if available)
TreeFam:
Gene Tree for PIGC (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PIGC: view image

Paralogs for PIGC Gene

Pseudogenes.org Pseudogenes for PIGC Gene

genes like me logo Genes that share paralogs with PIGC: view

No data available for Paralogs for PIGC Gene

Variants for PIGC Gene

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

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
767727 Benign: not provided 172,442,125(-) A/G SYNONYMOUS_VARIANT,INTRON_VARIANT
769251 Likely Benign: not provided 172,441,947(-) G/A MISSENSE_VARIANT,INTRON_VARIANT
rs115209243 Conflicting Interpretations: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16; not provided 172,442,562(-) G/A NONSENSE,INTRON_VARIANT
rs1553259602 Likely Pathogenic: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16. Glycosylphosphatidylinositol biosynthesis defect 16 (GPIBD16) [MIM:617816] 172,441,988(-) A/Gp.Leu212Pro MISSENSE_VARIANT,INTRON_VARIANT
rs1553259614 Likely Pathogenic: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16. Glycosylphosphatidylinositol biosynthesis defect 16 (GPIBD16) [MIM:617816] 172,442,057(-) A/Cp.Leu189Trp MISSENSE_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for PIGC Gene

Variation tolerance for PIGC Gene

Residual Variation Intolerance Score: 40.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.73; 94.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PIGC Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PIGC Gene

Disorders for PIGC Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards
Search PIGC in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PIGC_HUMAN
  • Glycosylphosphatidylinositol biosynthesis defect 16 (GPIBD16) [MIM:617816]: An autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, and seizures. {ECO:0000269 PubMed:27694521}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PIGC

genes like me logo Genes that share disorders with PIGC: view

No data available for Genatlas for PIGC Gene

Publications for PIGC Gene

  1. Structures and chromosomal localizations of the glycosylphosphatidylinositol synthesis gene PIGC and its pseudogene PIGCP1. (PMID: 9325057) Hong Y … Kinoshita T (Genomics 1997) 2 3 4 23
  2. PIG-C, one of the three human genes involved in the first step of glycosylphosphatidylinositol biosynthesis is a homologue of Saccharomyces cerevisiae GPI2. (PMID: 8806613) Inoue N … Kinoshita T (Biochemical and biophysical research communications 1996) 2 3 4 23
  3. Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability. (PMID: 27694521) Edvardson S … Elpeleg O (Journal of medical genetics 2017) 3 4
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  5. 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

Products for PIGC Gene

Sources for PIGC Gene