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

    Gene ID: 128869, updated on 28-Oct-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
    mouse all
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    Genomic context

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    See PIGU in Genome Data Viewer
    Location:
    20q11.22
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (34560542..34677092, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (36283696..36397781, complement)
    RS_2024_09 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 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. Common sequence variants on 20q11.22 confer melanoma susceptibility. Brown KM, et al. Nat Genet, 2008 Jul. PMID 18488026, Free PMC Article
    2. 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
    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. 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
    5. 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

    See all (58) 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
    		Compare labs

    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_2024_08

    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

    Gene LinkOut

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