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

Summary

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, Nov 2024]
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

Location:: 20q13.33

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (62938147..62948475)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (64738261..64748596)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (61569499..61579827)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

YTHDF1 regulates GID8-mediated glutamine metabolism to promote colorectal cancer progression in m6A-dependent manner.
Title: YTHDF1 regulates GID8-mediated glutamine metabolism to promote colorectal cancer progression in m6A-dependent manner.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH78524 (e-PCR)
- UniSTS:90116

RH66099 (e-PCR)
- UniSTS:87862

D20S1106 (e-PCR)
- UniSTS:25433

RH26943 (e-PCR)
- UniSTS:91515

RH39001 (e-PCR)
- UniSTS:88477

RH77850 (e-PCR)
- UniSTS:86993

SHGC-58609 (e-PCR)
- UniSTS:94425

WIAF-2552 (e-PCR)
- UniSTS:91363

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 cytosol	TAS Traceable Author Statement more info
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)

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

62938147..62948475

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

E1P5I3, Q8N5M5, Q9NWU2
XM_047440246.1 → XP_047296202.1 glucose-induced degradation protein 8 homolog isoform X1

UniProtKB/Swiss-Prot

E1P5I3, Q8N5M5, Q9NWU2