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PIGU phosphatidylinositol glycan anchor biosynthesis class U [ Homo sapiens (human) ]

Gene ID: 128869, updated on 3-Apr-2024

Summary

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Official Symbol
PIGUprovided by HGNC
Official Full Name
phosphatidylinositol glycan anchor biosynthesis class Uprovided by HGNC
Primary source
HGNC:HGNC:15791
See related
Ensembl:ENSG00000101464 MIM:608528; AllianceGenome:HGNC:15791
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
GAB1; PIG-U; NEDBSS; CDC91L1; GPIBD21
Summary
The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Cdc91, a predicted integral membrane protein that may function in cell division control. The protein encoded by this gene is the fifth subunit of GPI transamidase that attaches GPI-anchors to proteins. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in testis (RPKM 6.6), ovary (RPKM 5.2) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
20q11.22
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (34560542..34677092, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (36283696..36397781, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (33148346..33264896, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17766 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:33104047-33104912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33110743-33111242 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:33113424-33114623 Neighboring gene dynein light chain roadblock-type 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12837 Neighboring gene microtubule associated protein 1 light chain 3 alpha Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12838 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12839 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12840 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33153261-33153762 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33170999-33171500 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33171501-33172000 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33264364-33265250 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33265251-33266136 Neighboring gene uncharacterized LOC105372599 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12843 Neighboring gene Sharpr-MPRA regulatory region 13945 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12844 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12845 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12846 Neighboring gene tumor protein p53 inducible nuclear protein 2

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. PIGU promotes hepatocellular carcinoma progression through activating NF-κB pathway and increasing immune escape. Wei X, et al. Life Sci, 2020 Nov 1. PMID 32971102
  2. Identification of PIGU as the Hub Gene Associated with KRAS Mutation in Colorectal Cancer by Coexpression Analysis. Zhang M, et al. DNA Cell Biol, 2020 Sep. PMID 32552000
  3. Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies. Knaus A, et al. Am J Hum Genet, 2019 Aug 1. PMID 31353022, Free PMC Article
  4. PIGU overexpression adds value to TNM staging in the prognostic stratification of patients with hepatocellular carcinoma. Cao J, et al. Hum Pathol, 2019 Jan. PMID 30171988
  5. Common sequence variants on 20q11.22 confer melanoma susceptibility. Brown KM, et al. Nat Genet, 2008 Jul. PMID 18488026, Free PMC Article

See all (53) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Functional Analysis of the GPI Transamidase Complex by Screening for Amino Acid Mutations in Each Subunit.
    Title: Functional Analysis of the GPI Transamidase Complex by Screening for Amino Acid Mutations in Each Subunit.
  2. PIGU promotes hepatocellular carcinoma progression through activating NF-kappaB pathway and increasing immune escape.
    Title: PIGU promotes hepatocellular carcinoma progression through activating NF-κB pathway and increasing immune escape.
  3. Identification of PIGU as the Hub Gene Associated with KRAS Mutation in Colorectal Cancer by Coexpression Analysis.
    Title: Identification of PIGU as the Hub Gene Associated with KRAS Mutation in Colorectal Cancer by Coexpression Analysis.
  4. Mutations in PIGU Impair the Function of the glycosylphosphatidylinositol Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies.
    Title: Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies.
  5. Function of a membrane-embedded domain evolutionarily multiplied in the GPI lipid anchor pathway proteins PIG-B, PIG-M, PIG-U, PIG-W, PIG-V, and PIG-Z has been described.
    Title: Function of a membrane-embedded domain evolutionarily multiplied in the GPI lipid anchor pathway proteins PIG-B, PIG-M, PIG-U, PIG-W, PIG-V, and PIG-Z.
  6. our findings suggest that PIGU overexpression provides independent and complementary prognostic information in hepatocellular carcinoma patients
    Title: PIGU overexpression adds value to TNM staging in the prognostic stratification of patients with hepatocellular carcinoma.
  7. Low PIG-U expression is associated with Papillary Thyroid Carcinoma.
    Title: Post-translational Regulation of Radioactive Iodine Therapy Response in Papillary Thyroid Carcinoma.
  8. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
  9. Observational study of gene-disease association. (HuGE Navigator)
    Title: Modest association of malignant melanoma with the rs910873 and rs1885120 markers on chromosome 20: a population-based study.
  10. CDC91L1 is an oncogene in bladder cancer, and implicate the GPI anchoring system as a potential oncogenic pathway and therapeutic target in human cancers
    Title: CDC91L1 (PIG-U) is a newly discovered oncogene in human bladder cancer.
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
Glycosylphosphatidylinositol biosynthesis defect 21
MedGen: C5231419 OMIM: 618590 GeneReviews: Not available
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EBI GWAS Catalog

Description
Common sequence variants on 20q11.22 confer melanoma susceptibility.
EBI GWAS Catalog

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

  • MGC40420

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to GPI anchor binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in GPI anchor biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in attachment of GPI anchor to protein IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in attachment of GPI anchor to protein IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in attachment of GPI anchor to protein NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in attachment of GPI anchor to protein TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of receptor signaling pathway via JAK-STAT IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
part_of GPI-anchor transamidase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of GPI-anchor transamidase complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of GPI-anchor transamidase complex IPI
Inferred from Physical Interaction
more info
 PubMed 
located_in endoplasmic reticulum membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
located_in membrane HDA PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
phosphatidylinositol glycan anchor biosynthesis class U protein
Names
CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1
GPI and Actin Bar homolog
GPI transamidase component PIG-U
GPI transamidase subunit
GPI transamidase subunit PIGU
cell division cycle 91-like 1 protein
cell division cycle protein 91-like 1
protein CDC91-like 1

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_011497.1 RefSeqGene

    Range
    5194..121744
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_080476.5 → NP_536724.1  phosphatidylinositol glycan anchor biosynthesis class U protein

    See identical proteins and their annotated locations for NP_536724.1

    Status: REVIEWED

    Source sequence(s)
    AY422169
    Consensus CDS
    CCDS13239.1
    UniProtKB/Swiss-Prot
    Q7Z489, Q8N2F2, Q9H490
    UniProtKB/TrEMBL
    B4DXB6
    Related
    ENSP00000217446.3, ENST00000217446.8
    Conserved Domains (1) summary
    pfam06728
    Location:20 → 394
    PIG-U; GPI transamidase subunit PIG-U

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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    34560542..34677092 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027664.2 → XP_016883153.1  phosphatidylinositol glycan anchor biosynthesis class U protein isoform X1

    UniProtKB/TrEMBL
    B4DXB6
    Conserved Domains (1) summary
    pfam06728
    Location:20 → 346
    PIG-U; GPI transamidase subunit PIG-U

  2. XM_011528542.2 → XP_011526844.1  phosphatidylinositol glycan anchor biosynthesis class U protein isoform X2

    See identical proteins and their annotated locations for XP_011526844.1

    Conserved Domains (1) summary
    pfam06728
    Location:2 → 178
    PIG-U; GPI transamidase subunit PIG-U

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    36283696..36397781 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054322981.1 → XP_054178956.1  phosphatidylinositol glycan anchor biosynthesis class U protein isoform X1

  2. XM_054322982.1 → XP_054178957.1  phosphatidylinositol glycan anchor biosynthesis class U protein isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H490.3 GenPept UniProtKB/Swiss-Prot:Q9H490

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