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

Gene ID: 284098, updated on 5-Mar-2024

Summary

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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
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Genomic context

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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_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371749 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:34842246-34843179 Neighboring gene RNA, 5S ribosomal pseudogene 439 Neighboring gene zinc finger HIT-type containing 3 Neighboring gene myosin XIX Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:34889386-34890061 Neighboring gene gametogenetin binding protein 2 Neighboring gene ribosomal protein S2 pseudogene 50 Neighboring gene uncharacterized LOC107985031 Neighboring gene dehydrogenase/reductase 11

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW-related prenatal findings. Ronzoni L, et al. Prenat Diagn, 2022 Nov. PMID 35788948
  2. PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature. Peron A, et al. Am J Med Genet A, 2020 Jun. PMID 32198969
  3. A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia. Hogrebe M, et al. Am J Med Genet A, 2016 Dec. PMID 27626616
  4. Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome. Chiyonobu T, et al. J Med Genet, 2014 Mar. PMID 24367057
  5. GWT1 gene is required for inositol acylation of glycosylphosphatidylinositol anchors in yeast. Umemura M, et al. J Biol Chem, 2003 Jun 27. PMID 12714589

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ37433

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

  1. NG_052004.2 RefSeqGene

    Range
    5002..9318
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  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

  3. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    36534987..36539303
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187614.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    769891..774207
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    37520740..37525056
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7Z7B1.1 GenPept UniProtKB/Swiss-Prot:Q7Z7B1

Gene LinkOut

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