PRCC (gene)

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Papillary renal cell carcinoma (translocation-associated)
Identifiers
Symbols PRCC ; RCCP1; TPRC
External IDs OMIM179755 MGI2137738 HomoloGene38120 GeneCards: PRCC Gene
RNA expression pattern
PBB GE PRCC 208938 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 5546 94315
Ensembl ENSG00000143294 ENSMUSG00000004895
UniProt Q92733 Q9EQC8
RefSeq (mRNA) NM_005973 NM_033573
RefSeq (protein) NP_005964 NP_291051
Location (UCSC) Chr 1:
156.75 – 156.8 Mb
Chr 3:
87.86 – 87.89 Mb
PubMed search [1] [2]

Proline-rich protein PRCC is a protein that in humans is encoded by the PRCC gene.[1][2]

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.[2]

References[edit]

  1. ^ 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. 
  2. ^ a b "Entrez Gene: PRCC papillary renal cell carcinoma (translocation-associated)". 

Further reading[edit]