PIGQ phosphatidylinositol glycan anchor biosynthesis class Q [Homo sapiens (human)] - Gene

Summary

Official Symbol: PIGQprovided by HGNC
Official Full Name: phosphatidylinositol glycan anchor biosynthesis class Qprovided by HGNC
Primary source: HGNC:HGNC:14135
See related: Ensembl:ENSG00000007541 MIM:605754; AllianceGenome:HGNC:14135
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: GPI1; DEE77; EIEE77; MCAHS4; GPIBD19; c407A10.1
Summary: This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]
Expression: Ubiquitous expression in bone marrow (RPKM 21.8), kidney (RPKM 15.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p13.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (569968..584109)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (573385..587926)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (619968..634109)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identifying novel risk conferring genes involved in glycosylation processes with familial schizophrenia in an Indian cohort: Prediction of ADAMTS9 gene variant for structural stability.
Title: Identifying novel risk conferring genes involved in glycosylation processes with familial schizophrenia in an Indian cohort: Prediction of ADAMTS9 gene variant for structural stability.
Genome-wide association analyses identified four suggestive loci (PAX3, CCRN4L, PIGQ, and ADAM19)determinants of disease progression in Alzheimer's disease
Title: Genetic determinants of disease progression in Alzheimer's disease.
Genetic studies reveal two novel genes for Ohtahara Syndrome: KCNT1 and PIGQ.
Title: Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association of genetic variants with hemorrhagic stroke in Japanese individuals.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Developmental and epileptic encephalopathy, 77 MedGen: C5231405 OMIM: 618548 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in GPI anchor biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in GPI anchor biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in GPI anchor biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in carbohydrate metabolic process	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
part_of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IDA Inferred from Direct Assay more info	PubMed
part_of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: phosphatidylinositol N-acetylglucosaminyltransferase subunit Q

Names: N-acetylglucosaminyl transferase component Gpi1; N-acetylglucosamyl transferase component GPI1; PIG-Q; c407A10.1 (GPI1 (N-acetylglucosaminyl transferase component)); phosphatidylinositol glycan, class Q; phosphatidylinositol-glycan biosynthesis class Q protein

NP_004195.2

EC 2.4.1.198

NP_683721.1

EC 2.4.1.198

NCBI Reference Sequences (RefSeq)

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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

NG_034206.1 RefSeqGene

Range

5001..19171

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004204.5 → NP_004195.2 phosphatidylinositol N-acetylglucosaminyltransferase subunit Q isoform 2

See identical proteins and their annotated locations for NP_004195.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) has an additional exon in the 3' coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.

Source sequence(s)

AB003723, AK314361, BC006377, DA206420

Consensus CDS

CCDS10412.1

UniProtKB/TrEMBL

B2RAU6

Related

ENSP00000326674.6, ENST00000321878.10

Conserved Domains (1) summary

pfam05024
Location:277 → 449

Gpi1; N-acetylglucosaminyl transferase component (Gpi1)
NM_148920.4 → NP_683721.1 phosphatidylinositol N-acetylglucosaminyltransferase subunit Q isoform 1

See identical proteins and their annotated locations for NP_683721.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AB003723, BC006377, DA206420

Consensus CDS

CCDS10411.1

UniProtKB/Swiss-Prot

A2IDE1, D3DU52, O14927, Q96G00, Q96S22, Q9BRB3, Q9UJH4

Related

ENSP00000026218.5, ENST00000026218.9

Conserved Domains (1) summary

pfam05024
Location:277 → 449

Gpi1; N-acetylglucosaminyl transferase component (Gpi1)