PRCC (gene)

PRCC
Identifiers
Aliases	PRCC , RCCP1, TPRC, papillary renal cell carcinoma (translocation-associated), proline rich mitotic checkpoint control factor
External IDs	OMIM: 179755 MGI: 2137738 HomoloGene: 38120 GeneCards: PRCC
Gene location (Human) Chr. Chromosome 1 (human) [1] Band 1q23.1 Start 156,750,610 bp [1] End 156,800,815 bp [1]
Gene location (Mouse) Chr. Chromosome 3 (mouse) [2] Band 3|3 F1 Start 87,766,210 bp [2] End 87,792,915 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence right lobe of thyroid gland skin of abdomen gastrocnemius muscle stromal cell of endometrium left lobe of thyroid gland right lung canal of the cervix left uterine tube prefrontal cortex Top expressed in yolk sac lip superior frontal gyrus thymus aortic valve ganglionic eminence supraoptic nucleus ascending aorta morula entorhinal cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding Cellular component nucleus nucleoplasm nuclear speck Biological process cell cycle mitotic cell cycle checkpoint signaling mRNA splicing, via spliceosome Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5546 94315 Ensembl ENSG00000143294 ENSMUSG00000004895 UniProt Q92733 Q9EQC8 RefSeq (mRNA) NM_005973 NM_199416 NM_033573 RefSeq (protein) NP_005964 NP_291051 Location (UCSC) Chr 1: 156.75 – 156.8 Mb Chr 3: 87.77 – 87.79 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Proline-rich protein PRCC is a protein that, in humans, is encoded by the PRCC gene. ^{[5] [6]}

In a subset of papillary renal cell carcinomas, a t(X;1)(p11;q21) chromosome translocation has been repeatedly reported and is thought to be the cause of the cancer. As a result of the translocation, the transcription factor TFE3 on the X chromosome becomes fused to this gene on chromosome 1. The fused gene results in the fusion of N-terminal proline-rich region of the protein encoded by this gene to the entire TFE3 protein. This protein has been shown to interact with the mitotic checkpoint protein MAD2B, which suggests that the dominant-negative effect of the fusion protein with TFE3 may lead to a mitotic checkpoint defect. Alternatively spliced transcript variants encoding distinct isoforms have been observed. ^[6]

References

1. GRCh38: Ensembl release 89: ENSG00000143294 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000004895 - 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. Sidhar SK, Clark J, Gill S, Hamoudi R, Crew AJ, Gwilliam R, Ross M, Linehan WM, Birdsall S, Shipley J, Cooper CS (Jan 1997). "The t(X;1)(p11.2;q21.2) translocation in papillary renal cell carcinoma fuses a novel gene PRCC to the TFE3 transcription factor gene". Hum Mol Genet. 5 (9): 1333–8. doi: 10.1093/hmg/5.9.1333 . PMID   8872474.
6. "Entrez Gene: PRCC papillary renal cell carcinoma (translocation-associated)".

Further reading

• Zbar B, Glenn G, Lubensky I, et al. (1995). "Hereditary papillary renal cell carcinoma: clinical studies in 10 families". J. Urol. 153 (3 Pt 2): 907–12. doi:10.1016/S0022-5347(01)67601-8. PMID   7853572.
• Meloni AM, Dobbs RM, Pontes JE, Sandberg AA (1993). "Translocation (X;1) in papillary renal cell carcinoma. A new cytogenetic subtype". Cancer Genet. Cytogenet. 65 (1): 1–6. doi:10.1016/0165-4608(93)90050-V. PMID   8431910.
• Weterman MA, Wilbrink M, Geurts van Kessel A (1997). "Fusion of the transcription factor TFE3 gene to a novel gene, PRCC, in t(X;1)(p11;q21)-positive papillary renal cell carcinomas". Proc. Natl. Acad. Sci. U.S.A. 93 (26): 15294–8. doi: 10.1073/pnas.93.26.15294 . PMC   26398 . PMID   8986805.
• Weterman MJ, van Groningen JJ, Jansen A, van Kessel AG (2000). "Nuclear localization and transactivating capacities of the papillary renal cell carcinoma-associated TFE3 and PRCC (fusion) proteins". Oncogene. 19 (1): 69–74. doi: 10.1038/sj.onc.1203255 . PMID   10644981.
• Skalsky YM, Ajuh PM, Parker C, et al. (2001). "PRCC, the commonest TFE3 fusion partner in papillary renal carcinoma is associated with pre-mRNA splicing factors". Oncogene. 20 (2): 178–87. doi: 10.1038/sj.onc.1204056 . PMID   11313942.
• Weterman MA, Wilbrink M, Eleveld M, et al. (2001). "Genomic structure, chromosomal localization, and embryonic expression of the mouse homolog of PRCC, a gene associated with papillary renal cell carcinoma". Cytogenet. Cell Genet. 92 (3–4): 326–32. doi:10.1159/000056922. PMID   11435707. S2CID   2520925.
• Weterman MA, van Groningen JJ, Tertoolen L, van Kessel AG (2002). "Impairment of MAD2B-PRCC interaction in mitotic checkpoint defective t(X;1)-positive renal cell carcinomas". Proc. Natl. Acad. Sci. U.S.A. 98 (24): 13808–13. Bibcode:2001PNAS...9813808W. doi: 10.1073/pnas.241304198 . PMC   61123 . PMID   11717438.
• 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.
• 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.
• Anderson NL, Polanski M, Pieper R, et al. (2004). "The human plasma proteome: a nonredundant list developed by combination of four separate sources". Mol. Cell. Proteomics. 3 (4): 311–26. doi: 10.1074/mcp.M300127-MCP200 . PMID   14718574.
• 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.
• 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.