PIGC - phosphatidylinositol glycan anchor biosynthesis class C Gene

Also Known as GPI2; MRT62; GPIBD16

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5279

About PIGC

Cytogenetic location: 1q24.3 Genomic coordinates (GRCh38): 1:172,441,457-172,444,069 (from NCBI)

This gene has 7 transcripts (splice variants), 198 orthologues and is associated with 2 phenotypes. Ubiquitous expression in gall bladder (RPKM 12.5), skin (RPKM 12.3) and 25 other tissues.

Summary

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]

PIGC Products (2)

mRNA	Protein	Name
NM_002642.4	NP_002633.1	phosphatidylinositol N-acetylglucosaminyltransferase subunit C
NM_153747.2	NP_714969.1	phosphatidylinositol N-acetylglucosaminyltransferase subunit C

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	9463366	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in GPI anchor biosynthetic process	IDA IDA: Inferred from direct assay	16162815	GOA
involved in GPI anchor biosynthetic process	IMP IMP: Inferred from mutant phenotype	27694521	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	16162815	GOA
part of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IDA IDA: Inferred from direct assay	10944123	GOA
part of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IPI IPI: Inferred from physical interaction	16162815	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PIGC Protein Structure

GPI2

0
100
200
297 a.a.

Protein Preferred Names	Protein Names
phosphatidylinositol N-acetylglucosaminyltransferase subunit C	PIG-C

PIGC Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PIGC	Q92535	PIGQ	Homo sapiens	Q9BRB3	Anti Tag CoIP	9463366
Intra	PIGC	Q92535	DPM2	Homo sapiens	O94777	Anti Tag CoIP	10944123

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Glycosylphosphatidylinositol Biosynthesis Defect 16	GPIBD16 Mrt62 Mental Retardation, Autosomal Recessive 62 Intellectual Developmental Disorder, Autosomal Recessive 62 Glycosylphosphatidylinositol Biosynthesis Defect, Type 16
Autosomal Recessive Non-Syndromic Intellectual Disability	Ar-Nsid Ns-Arid
Anterior Segment Dysgenesis 4	Iridogoniodysgenesis Syndrome Iridogoniodysgenesis, Type 2 Irid2 Iridogoniodysgenesis Type 2 ASGD4 Igds Iris Hypoplasia With Early-Onset Glaucoma, Autosomal Dominant Ihga Irid 1 Irid 2 Iridogoniodysgenesis Type 1 Igds2 Iridogoniodysgenesis Syndrome 2 Iridogoniodysgenesis, Type 1
Autosomal Recessive Intellectual Developmental Disorder	Mental Retardation, Autosomal Recessive Autosomal Recessive Mental Retardation Autosomal Recessive Non-Syndromic Mental Retardation Autosomal Recessive Non-Syndromic Intellectual Disability

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10489	PIGC Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PIGC	VGNC	VGNC:44531
Mus musculus	PIGC	MGD	MGI:1914542
Macaca mulatta	PIGC	VGNC	VGNC:75986
Felis catus	PIGC	VGNC	VGNC:82497
Rattus norvegicus	PIGC	RGD	RGD:1311337
Others	PIGC	NCBI