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

    Gene ID: 284098, updated on 28-Oct-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
    mouse all
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    Genomic context

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    See PIGW in Genome Data Viewer
    Location:
    17q12
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (36534987..36539303)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (37520740..37525056)
    RS_2024_09 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 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 (16) 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
    		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)

    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 biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in GPI anchor metabolic process IC
    Inferred by Curator
    more info
    		 PubMed 
    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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