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

Gene ID: 54965, updated on 5-Mar-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
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Genomic context

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Location:
3q29
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (196712377..196736007)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (199431769..199455384)
105.20220307 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
  • 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 (14) 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_2023_10

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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