Misplaced Pages

RNF139
Identifiers
Aliases	RNF139, HRCA1, RCA1, TRC8, ring finger protein 139
External IDs	OMIM: 603046; MGI: 1923091; HomoloGene: 5222; GeneCards: RNF139; OMA:RNF139 - orthologs
Gene location (Human) Chr. Chromosome 8 (human) Band 8q24.13 Start 124,474,880 bp End 124,488,618 bp
Gene location (Mouse) Chr. Chromosome 15 (mouse) Band 15|15 D1 Start 58,761,078 bp End 58,778,906 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sperm left testis right testis endothelial cell parietal pleura visceral pleura cartilage tissue tail of epididymis synovial joint Achilles tendon Top expressed in seminiferous tubule medullary collecting duct spermatid renal corpuscle interventricular septum otolith organ utricle medial head of gastrocnemius muscle knee joint spermatocyte More reference expression data BioGPS More reference expression data
Gene ontology Molecular function ubiquitin protein ligase activity zinc ion binding metal ion binding ubiquitin-protein transferase activity ubiquitin-like protein transferase activity protease binding protein binding transferase activity ligase activity signaling receptor activity Cellular component integral component of membrane membrane endoplasmic reticulum Derlin-1 retrotranslocation complex endoplasmic reticulum membrane endoplasmic reticulum quality control compartment endomembrane system Biological process negative regulation of translation ERAD pathway regulation of ER to Golgi vesicle-mediated transport regulation of protein ubiquitination protein polyubiquitination regulation of protein processing positive regulation of ubiquitin-dependent protein catabolic process protein destabilization protein ubiquitination negative regulation of cell population proliferation proteasome-mediated ubiquitin-dependent protein catabolic process endoplasmic reticulum mannose trimming signal transduction Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 11236 75841 Ensembl ENSG00000170881 ENSMUSG00000037075 UniProt Q8WU17 Q7TMV1 RefSeq (mRNA) NM_007218 NM_175226 RefSeq (protein) NP_009149 NP_780435 Location (UCSC) Chr 8: 124.47 – 124.49 Mb Chr 15: 58.76 – 58.78 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

RING finger protein 139, also known as TRC8, is a protein that in humans is encoded by the RNF139 gene.

The protein encoded by this gene is a multi-membrane spanning protein containing a RING-H2 finger. This protein is located in the endoplasmic reticulum, and has been shown to possess ubiquitin ligase activity. This gene was found to be interrupted by a t(3:8) translocation in a family with hereditary renal and non-medullary thyroid cancer. Studies of the Drosophila counterpart suggested that this protein may interact with tumor suppressor protein VHL, as well as with COPS5/JAB1, a protein responsible for the degradation of tumor suppressor CDKN1B/P27KIP].

References

1. ^ GRCh38: Ensembl release 89: ENSG00000170881 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000037075 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Gemmill RM, West JD, Boldog F, Tanaka N, Robinson LJ, Smith DI, Li F, Drabkin HA (Sep 1998). "The hereditary renal cell carcinoma 3;8 translocation fuses FHIT to a patched-related gene, TRC8". Proc Natl Acad Sci U S A. 95 (16): 9572–7. Bibcode:1998PNAS...95.9572G. doi:10.1073/pnas.95.16.9572. PMC 21380. PMID 9689122.
6. ^ "Entrez Gene: RNF139 ring finger protein 139".

Further reading

• Poland KS, Azim M, Folsom M, et al. (2007). "A constitutional balanced t(3;8)(p14;q24.1) translocation results in disruption of the TRC8 gene and predisposition to clear cell renal cell carcinoma". Genes Chromosomes Cancer. 46 (9): 805–12. doi:10.1002/gcc.20466. PMID 17539022. S2CID 44344160.
• Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.
• Brauweiler A, Lorick KL, Lee JP, et al. (2007). "RING-dependent tumor suppression and G2/M arrest induced by the TRC8 hereditary kidney cancer gene". Oncogene. 26 (16): 2263–71. doi:10.1038/sj.onc.1210017. PMID 17016439. S2CID 12979173.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Gemmill RM, Bemis LT, Lee JP, et al. (2002). "The TRC8 hereditary kidney cancer gene suppresses growth and functions with VHL in a common pathway". Oncogene. 21 (22): 3507–16. doi:10.1038/sj.onc.1205437. PMID 12032852. S2CID 9964634.
• Lorick KL, Jensen JP, Fang S, et al. (1999). "RING fingers mediate ubiquitin-conjugating enzyme (E2)-dependent ubiquitination". Proc. Natl. Acad. Sci. U.S.A. 96 (20): 11364–9. Bibcode:1999PNAS...9611364L. doi:10.1073/pnas.96.20.11364. PMC 18039. PMID 10500182.
• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.

This article on a gene on human chromosome 8 is a stub. You can help Misplaced Pages by expanding it.

• v
• t
• e

• Genes on human chromosome 8
• RING finger proteins
• Human chromosome 8 gene stubs