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
Location 1q21.2
Location_base_pair Starts at 155003898 and ends at 155037233 bp from pter ( according to hg18-Mar_2006)  [Mapping]

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]  PRCC [Vega]
AceView (NCBI)PRCC
Genatlas (Paris)PRCC
euGene (Indiana)5546
SOURCE (Stanford)NM_005973 NM_199416
Gene Expression (Array Express) ENSG00000143294
Genomic and cartography
GoldenPath (UCSC)PRCC  -  1q21.2   chr1:155003898-155037233 +  1q21.1   [Description]    (hg18-Mar_2006)
EnsemblPRCC - 1q21.1 [CytoView]
Mapping of homologs : NCBIPRCC [Mapview]
OMIM179755   605074   
Gene and transcription
Gene : Genbank (Entrez)AA846273 AK126403 AK289872 BC004913 BC010450
Reference sequence (RefSeq transcript) :SRSNM_005973 NM_199416
Reference transcript : EntrezNM_005973 NM_199416
RefSeq genomic : SRSAC_000044 AC_000133 NC_000001 NG_008138 NT_004487 NW_001838531 NW_925683
RefSeq genomic : EntrezAC_000044 AC_000133 NC_000001 NG_008138 NT_004487 NW_001838531 NW_925683
Consensus coding sequences : CCDS NCBIPRCC
Cluster EST : UnigeneHs.516948 [ SRS ] Hs.516948 [ NCBI ]
Alternative Splicing : Fast-db (Paris)17414
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtQ92733 (SRS) Q92733 (Expasy) Q92733 (Uniprot)
With graphics : InterProQ92733
Splice isoforms : VarSplice FASTAQ92733(VarSplice FASTA)
Domains : Interpro (SRS)PRCC_C   
Domains : Interpro (EBI)PRCC_C   
Related proteins : CluSTrQ92733
Domain families : Pfam SRSPRCC_Cterm (PF10253)   
Domain families : Pfam SangerPRCC_Cterm (PF10253)   
Domain families : Pfam NCBIpfam10253   
Blocks (Seattle)Q92733
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
HPRD01562
Protein Interaction databases
DIP (DOE-UCLA)Q92733
IntAct (EBI)Q92733
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIPRCC
SNP : GeneSNP UtahPRCC
SNP : HGBasePRCC
Genetic variants : HAPMAPPRCC
Mutations and Diseases : HGMDPRCC
Hereditary diseases : OMIM179755    605074   
Hereditary diseases : GENETests179755    605074   
Diseases : Genetic AssociationPRCC
General knowledge
Homologs : HomoloGenePRCC
Homology/Alignments : Family Browser UCSCPRCC
Phylogenetic Trees/Animal Genes : TreeFamPRCC
Chemical/Protein Interactions : CTD5546
Keywords Ontology : AmiGOmolecular_function  cellular_component  biological_process  
Keywords Ontology : EGO-EBImolecular_function  cellular_component  biological_process  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
Probes : ImagenesPRCC Related clones (RZPD - Berlin)
Literature
PubMed14 Pubmed reference(s) in Entrez
PubGenePRCC

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

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indexed on : Sat Feb 6 13:38:36 CET 2010
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