PRCC
Identifiers
AliasesPRCC, RCCP1, TPRC, papillary renal cell carcinoma (translocation-associated), proline rich mitotic checkpoint control factor
External IDsOMIM: 179755 MGI: 2137738 HomoloGene: 38120 GeneCards: PRCC
Orthologs
SpeciesHumanMouse
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 MbChr 3: 87.77 – 87.79 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. 1 2 3 GRCh38: Ensembl release 89: ENSG00000143294 - Ensembl, May 2017
  2. 1 2 3 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. 1 2 "Entrez Gene: PRCC papillary renal cell carcinoma (translocation-associated)".

Further reading


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