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    GID8 GID complex subunit 8 homolog [ Homo sapiens (human) ]

    Gene ID: 54994, updated on 5-Mar-2024

    Summary

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    Official Symbol
    GID8provided by HGNC
    Official Full Name
    GID complex subunit 8 homologprovided by HGNC
    Primary source
    HGNC:HGNC:15857
    See related
    Ensembl:ENSG00000101193 MIM:611625; AllianceGenome:HGNC:15857
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TWA1; C20orf11
    Summary
    Predicted to enable protein homodimerization activity. Involved in positive regulation of canonical Wnt signaling pathway and positive regulation of cell population proliferation. Located in cell junction; cytosol; and nucleoplasm. Part of ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in esophagus (RPKM 17.5), ovary (RPKM 15.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GID8 in Genome Data Viewer
    Location:
    20q13.33
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (62938147..62948475)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (64738261..64748596)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (61569499..61579827)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372717 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:61506686-61507340 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:61507341-61507994 Neighboring gene Sharpr-MPRA regulatory region 11652 Neighboring gene MPRA-validated peak4302 silencer Neighboring gene ADP ribosylation factor 4 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:61517086-61517616 Neighboring gene small nucleolar RNA, H/ACA box 117 Neighboring gene death inducer-obliterator 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:61531289-61532143 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:61553829-61554340 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:61556733-61557346 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:61557347-61557960 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:61558843-61559691 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18219 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13133 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13134 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13135 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:61569565-61570233 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:61583471-61584300 Neighboring gene solute carrier family 17 member 9 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13140 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13141 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:61604715-61605564 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr20:61605565-61606416 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18220 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:61613574-61614491 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:61629479-61630243 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:61630758-61631400 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:61631401-61632042 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:61635197-61635710 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:61638035-61638740 Neighboring gene basic helix-loop-helix family member e23

    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. Overexpression of TWA1 predicts poor prognosis in patients with gastric cancer. Xiong J, et al. Pathol Res Pract, 2019 Nov. PMID 31591053
    2. (1)H, (13)C and (15)N chemical shift assignment of lissencephaly-1 homology (LisH) domain homodimer of human two-hybrid-associated protein 1 with RanBPM (Twa1). de Araujo TS, et al. Biomol NMR Assign, 2018 Apr. PMID 29067546
    3. A novel nuclear protein, Twa1, and Muskelin comprise a complex with RanBPM. Umeda M, et al. Gene, 2003 Jan 16. PMID 12559565
    4. Molecular phylogeny of a RING E3 ubiquitin ligase, conserved in eukaryotic cells and dominated by homologous components, the muskelin/RanBPM/CTLH complex. Francis O, et al. PLoS One, 2013. PMID 24143168, Free PMC Article
    5. The human GID complex engages two independent modules for substrate recruitment. Mohamed WI, et al. EMBO Rep, 2021 Nov 4. PMID 34647674, Free PMC Article

    See all (59) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. findings revealed that TWA1 plays an important role in the development of gastric cancer
      Title: Overexpression of TWA1 predicts poor prognosis in patients with gastric cancer.
    2. The results identify Twa1 as a previously undescribed regulator of the Wnt pathway for promoting colorectal tumorigenesis by facilitating beta-catenin nuclear retention.
      Title: Twa1/Gid8 is a β-catenin nuclear retention factor in Wnt signaling and colorectal tumorigenesis.
    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of canonical Wnt signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    glucose-induced degradation protein 8 homolog
    Names
    protein C20orf11
    two hybrid associated protein No. 1 with RanBPM
    two hybrid-associated protein 1 with RanBPM

    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_017896.3 → NP_060366.1  glucose-induced degradation protein 8 homolog

      See identical proteins and their annotated locations for NP_060366.1

      Status: VALIDATED

      Source sequence(s)
      AK000609, AK025775, BC031819, BC032120, BQ931571, BQ935273, CD676269
      Consensus CDS
      CCDS13510.1
      UniProtKB/Swiss-Prot
      E1P5I3, Q8N5M5, Q9NWU2
      Related
      ENSP00000266069.3, ENST00000266069.5
      Conserved Domains (2) summary
      pfam08513
      Location:28 → 52
      LisH
      pfam10607
      Location:63 → 207
      CLTH; CTLH/CRA C-terminal to LisH motif domain

    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
      62938147..62948475
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047440247.1 → XP_047296203.1  glucose-induced degradation protein 8 homolog isoform X1

      UniProtKB/Swiss-Prot
      E1P5I3, Q8N5M5, Q9NWU2

    2. XM_047440246.1 → XP_047296202.1  glucose-induced degradation protein 8 homolog isoform X1

      UniProtKB/Swiss-Prot
      E1P5I3, Q8N5M5, Q9NWU2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      64738261..64748596
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323585.1 → XP_054179560.1  glucose-induced degradation protein 8 homolog isoform X1

      UniProtKB/Swiss-Prot
      E1P5I3, Q8N5M5, Q9NWU2
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NWU2.1 GenPept UniProtKB/Swiss-Prot:Q9NWU2

    Gene LinkOut

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

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