TBC1D3 TBC1 domain family member 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TBC1D3provided by HGNC
Official Full Name: TBC1 domain family member 3provided by HGNC
Primary source: HGNC:HGNC:19031
See related: Ensembl:ENSG00000274611 MIM:607741; AllianceGenome:HGNC:19031
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: PRC17; TBC1D3A; TBC1D3C; TBC1D3D; TBC1D3F; TBC1D3L
Summary: Predicted to enable GTPase activator activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. Predicted to be located in early endosome membrane. [provided by Alliance of Genome Resources, Apr 2022]
Annotation information: Note: After build 36.3 (2008), NCBI noted that the annotation of TBC1D3 and TBC1D3F were incorrect. At that time geneID:729873 was renamed to TBC1D3 and geneID:84218 was renamed to TBC1D3F. [22 Apr 2009]
Expression: Broad expression in testis (RPKM 25.9), skin (RPKM 14.0) and 24 other tissues See more
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Genomic context

Location:: 17q12

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (38181659..38192555, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (39044723..39055625, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TBC1D3 promotes neural progenitor proliferation by suppressing the histone methyltransferase G9a.
Title: TBC1D3 promotes neural progenitor proliferation by suppressing the histone methyltransferase G9a.
our work reveals a novel model by which CaM promotes cell migration through inhibiting the ubiquitination and degradation of TBC1D3.
Title: Calmodulin promotes matrix metalloproteinase 9 production and cell migration by inhibiting the ubiquitination and degradation of TBC1D3 oncoprotein in human breast cancer cells.
High TBC1B3 expression is associated with breast cancer.
Title: Up-regulation of OLR1 expression by TBC1D3 through activation of TNFα/NF-κB pathway promotes the migration of human breast cancer cells.
Here, the found that expression of TBC1D3 in ventricular cortical progenitors of mice via in utero electroporation caused delamination of ventricular radial glia cells (vRGs) and promoted generation of self-renewing basal progenitors with typical morphology of outer radial glia (oRG), which are most abundant in primates. Expression of TBC1D3, was often found to underlie cortical regions exhibiting folding.
Title: The hominoid-specific gene TBC1D3 promotes generation of basal neural progenitors and induces cortical folding in mice.
these studies indicate a novel model by which the microtubule network regulates EGFR stability and signaling through tubulin dimer/oligomer interaction with the nucleocytoplasmic protein TBC1D3.
Title: Cytoplasmic retention of a nucleocytoplasmic protein TBC1D3 by microtubule network is required for enhanced EGFR signaling.
TBC1D3 is targeted to the plasma membrane by protein palmitoylation.
Title: Ubiquitination and degradation of the hominoid-specific oncoprotein TBC1D3 is regulated by protein palmitoylation.
Growth factor-stimulated TBC1D3 ubiquitination and degradation are regulated by its interaction with CUL7-Fbw8.
Title: Ubiquitination and degradation of the hominoid-specific oncoprotein TBC1D3 is mediated by CUL7 E3 ligase.
TBC1D3 plays an unanticipated and potentially unique role in the fine-tuning of insulin/IGF-1 signaling
Title: TBC1D3, a hominoid-specific gene, delays IRS-1 degradation and promotes insulin signaling by modulating p70 S6 kinase activity.
We describe eight highly related TBC1D3 paralogues located on Chromosome 17q12 that display specific transcription patterns in human tissues, and that pattern is altered in several primary prostate tumors in comparison to healthy prostate tissues.
Title: TBC1D3, a hominoid oncoprotein, is encoded by a cluster of paralogues located on chromosome 17q12.
Altered growth factor receptor trafficking and GTP-Ras turnover may be sites where recently evolved genes such as TBC1D3 selectively modulate signaling in hominoids and humans
Title: The hominoid-specific oncogene TBC1D3 activates Ras and modulates epidermal growth factor receptor signaling and trafficking.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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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

G19723 (e-PCR)
- UniSTS:40053

D17S1360E (e-PCR)
- UniSTS:150430

RH10527 (e-PCR)
- UniSTS:88029

Clone Names

FLJ56187, FLJ57364, FLJ58835, FLJ60943, FLJ77836, FLJ93850, DKFZp434P2235

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in activation of GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
NOT involved_in regulation of cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in early endosome membrane	TAS Traceable Author Statement more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: TBC1 domain family member 3

Names: Rab GTPase-activating protein PRC17; TBC1 domain family member 3C; TBC1 domain family member 3L; TBC1 domain family, member 3F; prostate cancer gene 17 protein; protein TRE17-alpha

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.