Atlas of Genetics and Cytogenetics in Oncology and Haematology

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PRCC (papillary renal cell carcinoma)

Identity

Other namesRCCP1 (renal cell carcinoma, papillary, 1)
HGNC (Hugo) PRCC
LocusID (NCBI) 5546
Location 1q23.1
Location_base_pair Starts at 156737274 and ends at 156770609 bp from pter ( according to hg19-Feb_2009)  [Mapping]
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics

DNA/RNA

Description cDNA of 2039 bp
Transcription 1989 bp RNA; coding sequence: CDS 191...1666

Protein

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 t(X;1)(p11.2;q21.2) in renal cell carcinoma --> PRCC/TFE3
Disease t(X;1) is a very rare subtype of papillary renal cell carcinoma
Prognosis overall 5-yr survival rate around 85%
 
Hybrid/Mutated Gene 5' PRCC- 3' TFE3; variable breakpoint in PRCC; breakpoint in the 1st intron of TFE3
Abnormal 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.
  

External links

Nomenclature
HGNC (Hugo)PRCC   9343
Entrez_Gene (NCBI)PRCC  5546  papillary renal cell carcinoma (translocation-associated)
Cards
AtlasPRCCID69
GeneCards (Weizmann)PRCC
Ensembl (Hinxton)ENSG00000143294 [Gene_View]  chr1:156737274-156770609 [Contig_View]  PRCC [Vega]
AceView (NCBI)PRCC
Genatlas (Paris)PRCC
SOURCE (Stanford)NM_005973 NM_199416
Genomic and cartography
GoldenPath (UCSC)PRCC  -  1q23.1   chr1:156737274-156770609 +  1q21.1   [Description]    (hg19-Feb_2009)
EnsemblPRCC - 1q21.1 [CytoView]
Mapping of homologs : NCBIPRCC [Mapview]
OMIM179755   605074   
Gene and transcription
Genbank (Entrez)AA846273 AK126403 AK289872 BC004913 BC010450
RefSeq transcript (SRS)NM_005973 NM_199416
RefSeq transcript (Entrez)NM_005973 NM_199416
RefSeq genomic (SRS)AC_000133 NC_000001 NC_018912 NG_008138 NT_004487 NW_001838531 NW_004077999
RefSeq genomic (Entrez)AC_000133 NC_000001 NC_018912 NG_008138 NT_004487 NW_001838531 NW_004077999
Consensus coding sequences : CCDS (NCBI)PRCC
Cluster EST : UnigeneHs.516948 [ SRS ] Hs.516948 [ NCBI ]
CGAP (NCI)Hs.516948
Alternative Splicing : Fast-db (Paris)GSHG0001056
Alternative Splicing GalleryENSG00000143294
Gene ExpressionPRCC [ NCBI-GEO ]   PRCC [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92733 (SRS) Q92733 (Uniprot)
NextProtQ92733
With graphics : InterProQ92733
Splice isoforms : SwissVarQ92733(Swissvar)
Domains : Interpro (SRS)PRCC_C   
Domains : Interpro (EBI)PRCC_C   
Related proteins : CluSTrQ92733
Domain families : Pfam (SRS)PRCC_Cterm (PF10253)   
Domain families : Pfam (Sanger)PRCC_Cterm (PF10253)   
Domain families : Pfam (NCBI)pfam10253   
DMDM5546
Blocks (Seattle)Q92733
Human Protein AtlasENSG00000143294
HPRD01562
IPIIPI00294618   IPI00399306   IPI00514697   
Protein Interaction databases
DIP (DOE-UCLA)Q92733
IntAct (EBI)Q92733
FunCoupENSG00000143294
REACTOMEPRCC
Protein Interaction Database5546
BioGRIDPRCC
InParanoidQ92733
Interologous Interaction database Q92733
IntegromeDBPRCC
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)PRCC
SNP (GeneSNP Utah)PRCC
SNP : HGBasePRCC
Genetic variants : HAPMAPPRCC
Cancer Gene: CensusPRCC 
Somatic Mutations in Cancer : COSMICPRCC 
CONAN: Copy Number AnalysisPRCC 
Rearrangement : COSMICPRCC [1q23.1]  -  TFE3 [Xp11.23]
Rearrangement : COSMICTFE3 [Xp11.23]  -  PRCC [1q23.1]
Translocation Breakpoints in Cancer : TICdbPRCC 
Mutations and Diseases : HGMDPRCC
OMIM179755    605074   
GENETests179755    605074   
Disease Genetic AssociationPRCC
Huge Navigator PRCC [HugePedia]  PRCC [HugeCancerGEM]
Genomic VariantsPRCC  PRCC [DGVbeta]
snp3D : Map Gene to Disease5546
General knowledge
Homologs : HomoloGenePRCC
Homology/Alignments : Family Browser (UCSC)PRCC
Phylogenetic Trees/Animal Genes : TreeFamPRCC
Chemical/Protein Interactions : CTD5546
Chemical/Pharm GKB GenePA33704
Clinical trialPRCC
Cancer Resource (Charite)ENSG00000143294
Ontology : AmiGOprotein binding  nucleus  nucleolus  mitotic cell cycle checkpoint  intracellular membrane-bounded organelle  
Ontology : EGO-EBIprotein binding  nucleus  nucleolus  mitotic cell cycle checkpoint  intracellular membrane-bounded organelle  
Other databases
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
PubGenePRCC
iHOPPRCC

Bibliography

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.
Sidhar SK, Clark J, Gill S, Hamoudi R, Crew AJ, Gwilliam R, Ross M, Linehan WM, Birdsall S, Shipley J, Cooper CS
Human molecular genetics. 1996 ; 5 (9) : 1333-1338.
PMID 8872474
 
Fusion of the transcription factor TFE3 gene to a novel gene, PRCC, in t(X;1)(p11;q21)-positive papillary renal cell carcinomas.
Weterman MA, Wilbrink M, Geurts van Kessel A
Proceedings of the National Academy of Sciences of the United States of America. 1996 ; 93 (26) : 15294-15298.
PMID 8986805
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written01-1999Fran¨ois Desangles and Jean-Loup Huret

Citation

This paper should be referenced as such :
Desangles F and Huret JL . PRCC (papillary renal cell carcinoma). Atlas Genet Cytogenet Oncol Haematol. January 1999 .
URL : http://AtlasGeneticsOncology.org/Genes/PRCCID69.html

This paper is referenced by INIST as such :
http://documents.irevues.inist.fr/bitstream/2042/37500/1/01-1999-PRCCID69.pdf   [ Bibliographic record ]

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indexed on : Wed May 1 12:55:31 CEST 2013
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