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

Gene ID: 284098, updated on 13-Mar-2020

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
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

Genomic context

See PIGW in Genome Data Viewer
Location:
17q12
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (36534762..36539303)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (34890849..34895217)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371749 Neighboring gene RNA, 5S ribosomal pseudogene 439 Neighboring gene zinc finger HIT-type containing 3 Neighboring gene myosin XIX 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

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ37433

Gene Ontology Provided by GOA

Function Evidence Code Pubs
O-acyltransferase activity TAS
Traceable Author Statement
more info
 
glucosaminyl-phosphotidylinositol O-acyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
GPI anchor biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GPI anchor metabolic process IC
Inferred by Curator
more info
PubMed 
preassembly of GPI anchor in ER membrane TAS
Traceable Author Statement
more info
 
protein localization to plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein localization to plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
phosphatidylinositol-glycan biosynthesis class W protein

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_052004.1 RefSeqGene

    Range
    5001..9542
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001346754.2NP_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
    Related
    ENSP00000482202.1, ENST00000614443.2
  2. NM_001346755.1NP_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
  3. NM_178517.4NP_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, AK094752, DN998947
    Consensus CDS
    CCDS11313.1
    UniProtKB/Swiss-Prot
    Q7Z7B1
    Related
    ENSP00000480021.1, ENST00000620233.1
    Conserved Domains (1) summary
    cl02109
    Location:4497
    GWT1; GWT1

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_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    36534762..36539303
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187614.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    769666..774207
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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