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PIGC phosphatidylinositol glycan anchor biosynthesis class C [ Homo sapiens (human) ]

Gene ID: 5279, updated on 1-Jun-2020

Summary

Official Symbol
PIGCprovided by HGNC
Official Full Name
phosphatidylinositol glycan anchor biosynthesis class Cprovided by HGNC
Primary source
HGNC:HGNC:8960
See related
Ensembl:ENSG00000135845 MIM:601730
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GPI2; MRT62; GPIBD16
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]
Expression
Ubiquitous expression in gall bladder (RPKM 12.5), skin (RPKM 12.3) and 25 other tissues See more
Orthologs

Genomic context

See PIGC in Genome Data Viewer
Location:
1q24.3
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (172441457..172444069, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (172410597..172413230, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene dynamin 3 Neighboring gene microRNA 199a-2 Neighboring gene DNM3 opposite strand/antisense RNA Neighboring gene uncharacterized LOC102724528 Neighboring gene RNA, U6 small nuclear 157, pseudogene Neighboring gene chromosome 1 open reading frame 105 Neighboring gene Sharpr-MPRA regulatory region 5023 Neighboring gene SUN domain containing ossification factor

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Phenotypes

Associated conditions

Description Tests
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16
MedGen: C4540521 OMIM: 617816 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC2049

Gene Ontology Provided by GOA

Function Evidence Code Pubs
catalytic activity TAS
Traceable Author Statement
more info
PubMed 
phosphatidylinositol N-acetylglucosaminyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
GPI anchor biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
preassembly of GPI anchor in ER membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
phosphatidylinositol N-acetylglucosaminyltransferase subunit C
Names
PIG-C
phosphatidylinositol-glycan biosynthesis, class C protein
NP_002633.1
NP_714969.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_050631.1 RefSeqGene

    Range
    5022..7634
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002642.4NP_002633.1  phosphatidylinositol N-acetylglucosaminyltransferase subunit C

    See identical proteins and their annotated locations for NP_002633.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses a different splice site in the 5' UTR when compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AA372370, BC006539, BG106700
    Consensus CDS
    CCDS1302.1
    UniProtKB/Swiss-Prot
    Q92535
    Related
    ENSP00000356702.1, ENST00000367728.1
    Conserved Domains (1) summary
    pfam06432
    Location:14284
    GPI2; Phosphatidylinositol N-acetylglucosaminyltransferase
  2. NM_153747.2NP_714969.1  phosphatidylinositol N-acetylglucosaminyltransferase subunit C

    See identical proteins and their annotated locations for NP_714969.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the predominant transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AA372370, BC006539
    Consensus CDS
    CCDS1302.1
    UniProtKB/Swiss-Prot
    Q92535
    Related
    ENSP00000356701.3, ENST00000344529.5
    Conserved Domains (1) summary
    pfam06432
    Location:14284
    GPI2; Phosphatidylinositol N-acetylglucosaminyltransferase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    172441457..172444069 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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