TBC1D3F TBC1 domain family member 3F [Homo sapiens (human)] - Gene

Summary

Official Symbol: TBC1D3Fprovided by HGNC
Official Full Name: TBC1 domain family member 3Fprovided by HGNC
Primary source: HGNC:HGNC:18257
See related: Ensembl:ENSG00000275954 MIM:610809; AllianceGenome:HGNC:18257
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: TBC1D3; TBC1D3G
Summary: Predicted to enable GTPase activator activity. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
Annotation information: Annotation category: suggests misassembly; 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 23.1), skin (RPKM 11.4) and 23 other tissues See more
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Genomic context

Location:: 17q12

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (36428612..36439521, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (37427057..37437961, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (34797172..34808058, 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PRC17 is amplified in 15% of prostate cancers, it is highly overexpressed in approximately one-half of metastatic prostate tumors.
Title: PRC17, a novel oncogene encoding a Rab GTPase-activating protein, is amplified in prostate cancer.
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.

Submit: New GeneRIF Correction

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 studies and variants in dbVar

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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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: TBC1 domain family member 3F

Names: TBC1 domain family member 3; TBC1 domain family member 3G; 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.