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

Gene ID: 54965, updated on 18-Aug-2020

Summary

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
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

Genomic context

See PIGX in Genome Data Viewer
Location:
3q29
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (196712377..196736007)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (196439234..196462878)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene negative regulator of reactive oxygen species Neighboring gene RNA, U6 small nuclear 646, pseudogene Neighboring gene centrosomal protein 19 Neighboring gene RNA, U4 small nuclear 89, pseudogene Neighboring gene p21 (RAC1) activated kinase 2 Neighboring gene RNA, U6 small nuclear 42, pseudogene

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

  • FLJ20522

Gene Ontology Provided by GOA

Process Evidence Code Pubs
preassembly of GPI anchor in ER membrane TAS
Traceable Author Statement
more info
 
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 X protein
Names
GPI-mannosyltransferase subunit

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.

mRNA and Protein(s)

  1. NM_001166304.2NP_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/Swiss-Prot
    Q8TBF5
    Related
    ENSP00000296333.5, ENST00000296333.9
    Conserved Domains (1) summary
    pfam08320
    Location:54268
    PIG-X; PIG-X / PBN1
  2. NM_017861.4NP_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
    Related
    ENSP00000376192.3, ENST00000392391.7
    Conserved Domains (1) summary
    pfam08320
    Location:54250
    PIG-X; PIG-X / PBN1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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