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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
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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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