TBC1D3

TBC1D3F
Identifiers
Aliases	TBC1D3F, TBC1D3, TBC1D3G, TBC1 domain family member 3F
External IDs	OMIM: 610809; HomoloGene: 74280; GeneCards: TBC1D3F; OMA:TBC1D3F - orthologs
Gene location (Human)
Chr.	Chromosome 17 (human)
End	36,439,566 bp
RNA expression pattern
	Top expressed in
	testicle; ; right testis; ; left testis; ; right uterine tube; ; left uterine tube; ; bone marrow; ; duodenum; ; skeletal muscle tissue; ; gallbladder; ; blood;
	n/a
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	GTPase activator activity;
Cellular component	membrane; plasma membrane; intracellular anatomical structure; endomembrane system;
Biological process	intracellular protein transport; regulation of vesicle fusion; activation of GTPase activity;
	Sources:Amigo / QuickGO
Orthologs
	84218
	n/a
	ENSG00000275954
	n/a
	A6NER0
	n/a
	NM_032258
	n/a
	NP_115634
	n/a
	Wikidata
View/Edit Human

TBC1 domain family member 3 is a protein that in humans is encoded by the TBC1D3 gene.³⁴ This protein contains a TBC (Tre-2, Bub2p, and Cdc16p) domain, which is found in proteins involved in Rab GTPase signaling and vesicle trafficking.

In humans, the NPEPPS-TBC1D3 fusion (transcriptional readthrough) transcripts are the predominant TBC1D3 isoforms.⁵⁶

References

GRCh38: Ensembl release 89: ENSG00000275954 – Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
Hodzic D, Kong C, Wainszelbaum MJ, Charron AJ, Su X, Stahl PD (November 2006). "TBC1D3, a hominoid oncoprotein, is encoded by a cluster of paralogues located on chromosome 17q12". Genomics. 88 (6): 731–736. doi:10.1016/j.ygeno.2006.05.009. PMID 16863688.
"Entrez Gene: TBC1D3 TBC1 domain family, member 3".
Ma K, Yang Z, Li Z, Guo J, Lian D, Wang Z, et al. (2026-01-15), Joint Segmental Duplication Co-option Drives Human-specific Transcriptional Readthrough and Expression Fine-tuning of NPEPPS-TBC1D3, bioRxiv, doi:10.64898/2026.01.14.699191
Guitart X, Brunner JW, Ren L, Jeong H, Yoo D, Porubsky D, et al. (January 2026). "NPEPPS segmental duplication drives position effect expression of TBC1D3 in the human brain". bioRxiv: The Preprint Server for Biology 2026.01.14.699559. doi:10.64898/2026.01.14.699559. PMC 12871316. PMID 41648143.

Further reading

Onno M, Nakamura T, Hillova J, Hill M (1993). "Identification of novel sequences in the repertoire of hypervariable TRE17 genes from immortalized nonmalignant and malignant human keratinocytes". Gene. 131 (2): 209–215. doi:10.1016/0378-1119(93)90295-E. PMID 8406013.
Onno M, Nakamura T, Mariage-Samson R, Hillova J, Hill M (March 1993). "Human TRE17 oncogene is generated from a family of homologous polymorphic sequences by single-base changes". DNA and Cell Biology. 12 (2): 107–118. doi:10.1089/dna.1993.12.107. PMID 8471161.
Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Research. 10 (11): 1788–1795. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, et al. (March 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Research. 11 (3): 422–435. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
Paulding CA, Ruvolo M, Haber DA (2003). "The Tre2 (USP6) oncogene is a hominoid-specific gene". Proceedings of the National Academy of Sciences of the United States of America. 100 (5): 2507–2511. Bibcode:2003PNAS..100.2507P. doi:10.1073/pnas.0437015100. PMC 151371. PMID 12604796.
Masuda-Robens JM, Kutney SN, Qi H, Chou MM (2003). "The TRE17 oncogene encodes a component of a novel effector pathway for Rho GTPases Cdc42 and Rac1 and stimulates actin remodeling". Molecular and Cellular Biology. 23 (6): 2151–2161. doi:10.1128/MCB.23.6.2151-2161.2003. PMC 149457. PMID 12612085.
Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, et al. (October 2004). "From ORFeome to biology: a functional genomics pipeline". Genome Research. 14 (10B): 2136–2144. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, et al. (January 2006). "The LIFEdb database in 2006". Nucleic Acids Research. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000275954 – Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid16863688-3] Hodzic D, Kong C, Wainszelbaum MJ, Charron AJ, Su X, Stahl PD (November 2006). "TBC1D3, a hominoid oncoprotein, is encoded by a cluster of paralogues located on chromosome 17q12". Genomics. 88 (6): 731–736. doi:10.1016/j.ygeno.2006.05.009. PMID 16863688.

[entrez-4] "Entrez Gene: TBC1D3 TBC1 domain family, member 3".

[5] Ma K, Yang Z, Li Z, Guo J, Lian D, Wang Z, et al. (2026-01-15), Joint Segmental Duplication Co-option Drives Human-specific Transcriptional Readthrough and Expression Fine-tuning of NPEPPS-TBC1D3, bioRxiv, doi:10.64898/2026.01.14.699191

[6] Guitart X, Brunner JW, Ren L, Jeong H, Yoo D, Porubsky D, et al. (January 2026). "NPEPPS segmental duplication drives position effect expression of TBC1D3 in the human brain". bioRxiv: The Preprint Server for Biology 2026.01.14.699559. doi:10.64898/2026.01.14.699559. PMC 12871316. PMID 41648143.

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