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    PIGX phosphatidylinositol glycan anchor biosynthesis class X [ Homo sapiens (human) ]

    Gene ID: 54965, updated on 28-Oct-2024

    Summary

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    Official Symbol
    PIGXprovided by HGNC
    Official Full Name
    phosphatidylinositol glycan anchor biosynthesis class Xprovided by HGNC
    Primary source
    HGNC:HGNC:26046
    See related
    Ensembl:ENSG00000163964 MIM:610276; AllianceGenome:HGNC:26046
    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
    PIG-X
    Summary
    This gene encodes a type I transmembrane protein in the endoplasmic reticulum (ER). The protein is an essential component of glycosylphosphatidylinositol-mannosyltransferase I, which transfers the first of the four mannoses in the GPI-anchor precursors during GPI-anchor biosynthesis. Studies in rat indicate that the protein is translated from a non-AUG translation initiation site. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
    Expression
    Ubiquitous expression in brain (RPKM 7.7), prostate (RPKM 7.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PIGX in Genome Data Viewer
    Location:
    3q29
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (196712377..196736007)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (199431769..199455384)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (196439248..196462878)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15069 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15070 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21097 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21098 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21099 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21100 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21101 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:196374559-196375324 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:196377623-196378388 Neighboring gene negative regulator of reactive oxygen species Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:196386545-196387120 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:196392298-196392960 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:196392961-196393623 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:196393624-196394285 Neighboring gene NANOG hESC enhancer GRCh37_chr3:196409910-196410411 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:196438871-196439183 Neighboring gene RNA, U6 small nuclear 646, pseudogene Neighboring gene centrosomal protein 19 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15072 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:196472201-196472700 Neighboring gene RNA, U4 small nuclear 89, pseudogene Neighboring gene p21 (RAC1) activated kinase 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:196499493-196499749 Neighboring gene RNA, U6 small nuclear 42, pseudogene

    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. Mammalian PIG-X and yeast Pbn1p are the essential components of glycosylphosphatidylinositol-mannosyltransferase I. Ashida H, et al. Mol Biol Cell, 2005 Mar. PMID 15635094, Free PMC Article
    2. Dissecting and manipulating the pathway for glycosylphos-phatidylinositol-anchor biosynthesis. Kinoshita T, et al. Curr Opin Chem Biol, 2000 Dec. PMID 11102867
    3. A systems-wide screen identifies substrates of the SCFβTrCP ubiquitin ligase. Low TY, et al. Sci Signal, 2014 Dec 16. PMID 25515538
    4. Comparative host-coronavirus protein interaction networks reveal pan-viral disease mechanisms. Gordon DE, et al. Science, 2020 Dec 4. PMID 33060197, Free PMC Article
    5. Sequential genome-wide CRISPR-Cas9 screens identify genes regulating cell-surface expression of tetraspanins. Yang J, et al. Cell Rep, 2023 Feb 28. PMID 36724073

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. mammalian PIG-X and yeast Pbn1p are the essential components of glycosylphosphatidylinositol-mannosyltransferase I
      Title: Mammalian PIG-X and yeast Pbn1p are the essential components of glycosylphosphatidylinositol-mannosyltransferase I.
    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

    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

    • FLJ20522

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in GPI anchor biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 X protein
    Names
    GPI-mannosyltransferase subunit

    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.

    mRNA and Protein(s)

    1. NM_001166304.2 → NP_001159776.1  phosphatidylinositol-glycan biosynthesis class X protein isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC055725, AK000529, BG715890, BU740645
      Consensus CDS
      CCDS54701.1
      UniProtKB/TrEMBL
      H0Y2P9
      Related
      ENSP00000296333.6, ENST00000296333.10
      Conserved Domains (1) summary
      pfam08320
      Location:54 → 268
      PIG-X; PIG-X / PBN1

    2. NM_017861.4 → NP_060331.3  phosphatidylinositol-glycan biosynthesis class X protein isoform 2 precursor

      See identical proteins and their annotated locations for NP_060331.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      AC055725, BC022542, BG715890, BU740645
      Consensus CDS
      CCDS3320.2
      UniProtKB/Swiss-Prot
      Q8TBF5, Q9NWZ2
      UniProtKB/TrEMBL
      A0A1X7SBT4
      Related
      ENSP00000376192.4, ENST00000392391.9
      Conserved Domains (1) summary
      pfam08320
      Location:54 → 250
      PIG-X; PIG-X / PBN1

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      196712377..196736007
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      199431769..199455384
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TBF5.3 GenPept UniProtKB/Swiss-Prot:Q8TBF5

    Gene LinkOut

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

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