PRCC (gene)

PRCC

Identifiers

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]
Band	1q23.1	End	156,800,815 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 3 (mouse)^[2]

Band	3\|3 F1	Start	87,766,210 bp^[2]
Band	3\|3 F1	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

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000143294 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000004895 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ ^a ^b "Entrez Gene: PRCC papillary renal cell carcinoma (translocation-associated)".

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.

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This page was last edited on 11 October 2022, at 17:06

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References

Further reading