PIGW phosphatidylinositol glycan anchor biosynthesis class W [Homo sapiens (human)] - Gene

Summary

Official Symbol: PIGWprovided by HGNC
Official Full Name: phosphatidylinositol glycan anchor biosynthesis class Wprovided by HGNC
Primary source: HGNC:HGNC:23213
See related: Ensembl:ENSG00000277161 MIM:610275; AllianceGenome:HGNC:23213
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: Gwt1; HPMRS5
Summary: The protein encoded by this gene is an inositol acyltransferase that acylates the inositol ring of phosphatidylinositol. This occurs in the endoplasmic reticulum and is a step in the biosynthesis of glycosylphosphatidylinositol (GPI), which anchors many cell surface proteins to the membrane. Defects in this gene are a cause of the age-dependent epileptic encephalopathy West syndrome as well as a syndrome exhibiting hyperphosphatasia and cognitive disability (HPMRS5). [provided by RefSeq, Jul 2017]
Expression: Ubiquitous expression in appendix (RPKM 3.2), esophagus (RPKM 2.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q12

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (36534987..36539303)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (37520740..37525056)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (34890814..34895152)

Chromosome 17 - NC_000017.11 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
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?

Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW-related prenatal findings.
Title: Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW-related prenatal findings.
PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature.
Title: PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature.

Submit: New GeneRIF Correction

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
Hyperphosphatasia with intellectual disability syndrome 5 MedGen: C4014958 OMIM: 616025 GeneReviews: Not available	Compare labs

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 O-acyltransferase activity	TAS Traceable Author Statement more info
enables glucosaminyl-phosphatidylinositol O-acyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in GPI anchor biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in GPI anchor metabolic process	IC Inferred by Curator more info	PubMed
involved_in preassembly of GPI anchor in ER membrane	TAS Traceable Author Statement more info
involved_in protein localization to plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: phosphatidylinositol-glycan biosynthesis class W protein

Names: GPI-anchored wall protein transfer 1 homolog

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_052004.2 RefSeqGene

Range

5002..9318

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001346754.2 → NP_001333683.1 phosphatidylinositol-glycan biosynthesis class W protein

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.

Source sequence(s)

AC233698

Consensus CDS

CCDS11313.1

UniProtKB/Swiss-Prot

Q7Z7B1, Q8N9G3

Related

ENSP00000482202.1, ENST00000614443.2
NM_001346755.2 → NP_001333684.1 phosphatidylinositol-glycan biosynthesis class W protein

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.

Source sequence(s)

AC233698

Consensus CDS

CCDS11313.1

UniProtKB/Swiss-Prot

Q7Z7B1, Q8N9G3
NM_178517.5 → NP_848612.2 phosphatidylinositol-glycan biosynthesis class W protein

See identical proteins and their annotated locations for NP_848612.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. All three variants encode the same protein.

Source sequence(s)

AC233698

Consensus CDS

CCDS11313.1

UniProtKB/Swiss-Prot

Q7Z7B1, Q8N9G3

Related

ENSP00000480021.1, ENST00000620233.1

Conserved Domains (1) summary

cl02109
Location:4 → 497

GWT1; GWT1