TBC1D3

TBC1D3
Identifiers
Aliases	TBC1D3, PRC17, TBC1D3A, TBC1D3F, TBC1 domain family member 3, TBC1D3L, TBC1D3D, TBC1D3C
External IDs	OMIM: 607741; GeneCards: TBC1D3
Gene location (Human)
Chr.	Chromosome 17 (human)
End	38,192,555 bp
RNA expression pattern
	Top expressed in
	gastric mucosa; ; testicle; ; sural nerve; ; epithelium of colon; ; fundus; ; granulocyte; ; left testis; ; right adrenal cortex; ; skeletal muscle tissue; ; bone marrow cell;
	n/a
	More reference expression data
	n/a
Gene ontology
Molecular function	GTPase activator activity;
Cellular component	membrane; plasma membrane; endomembrane system; intracellular anatomical structure; early endosome membrane;
Biological process	activation of GTPase activity; regulation of vesicle fusion; intracellular protein transport; regulation of cilium assembly;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	729873
	n/a
	ENSG00000274611
	n/a
	Q6IPX1; Q8IZP1
	n/a
	NM_001123391
	n/a
	NP_001116863; NP_001001418; NP_001116863
	n/a
	Wikidata
View/Edit Human

TBC1 domain family member 3 is a protein that in humans is encoded by the TBC1D3 gene.^[3]^[4] 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.^[5]^[6]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000274611 – 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 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 10.64898/2026.01.14.699559.

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] 1 2 3 GRCh38: Ensembl release 89: ENSG00000274611 – 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 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 10.64898/2026.01.14.699559.

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[5]

[6]

References

Further reading