PRCC (papillary renal cell carcinoma)

1999-01-01   François Desangles , Jean-Loup Huret 

Laboratoire de Biologie, Hopital du Val de Grace, 75230 Paris, France

Identity

HGNC
LOCATION
1q23.1
IMAGE
Atlas Image
LEGEND
Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
LOCUSID
ALIAS
RCCP1,TPRC
FUSION GENES

DNA/RNA

Description

cDNA of 2039 bp

Transcription

1989 bp RNA; coding sequence: CDS 191...1666

Proteins

Description

491 amino acids; 52 kDa; proline/leucine/glycine rich domain of 150 amino acids in N-term

Expression

wide; in the fetus and in the adult

Homology

none is known

Implicated in

Entity name
t(X;1)(p11.2;q21.2) in renal cell carcinoma --> PRCC /< CC: TXT: TFE3 ID: 86 >
Disease
t(X;1) is a very rare subtype of papillary renal cell carcinoma
Prognosis
overall 5-yr survival rate around 85%
Hybrid gene
5 PRCC- 3 TFE3; variable breakpoint in PRCC; breakpoint in the 1st intron of TFE3
Atlas Image
Fusion protein
N-term PRCC with the proline rich sequence fused to most of TFE3, including the ; the reciprocal TFE3-PRCC is expressed; it is to be noted that the normal TFE3 transcript is lost in female patients.

Bibliography

Pubmed IDLast YearTitleAuthors
88724741996The t(X;1)(p11.2;q21.2) translocation in papillary renal cell carcinoma fuses a novel gene PRCC to the TFE3 transcription factor gene.Sidhar SK et al
89868051996Fusion of the transcription factor TFE3 gene to a novel gene, PRCC, in t(X;1)(p11;q21)-positive papillary renal cell carcinomas.Weterman MA et al

Other Information

Locus ID:

NCBI: 5546
MIM: 179755
HGNC: 9343
Ensembl: ENSG00000143294

Variants:

dbSNP: 5546
ClinVar: 5546
TCGA: ENSG00000143294
COSMIC: PRCC

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000143294ENST00000271526Q92733
ENSG00000143294ENST00000271526A0A0S2Z456
ENSG00000143294ENST00000454659H0Y679
ENSG00000143294ENST00000526188H0YE12

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
Transcriptional misregulation in cancerKEGGko05202
Transcriptional misregulation in cancerKEGGhsa05202
Gene ExpressionREACTOMER-HSA-74160
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
194228212009The renal cell carcinoma-associated oncogenic fusion protein PRCCTFE3 provokes p21 WAF1/CIP1-mediated cell cycle delay.10
289499762017PRCC-TFE3 dual-fusion FISH assay: A new method for identifying PRCC-TFE3 renal cell carcinoma in paraffin-embedded tissue.3

Citation

François Desangles ; Jean-Loup Huret

PRCC (papillary renal cell carcinoma)

Atlas Genet Cytogenet Oncol Haematol. 1999-01-01

Online version: http://atlasgeneticsoncology.org/gene/69/prcc