Atlas of Genetics and Cytogenetics in Oncology and Haematology
PRCC (papillary renal cell carcinoma)
| Identity |
| Other names | RCCP1 (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 | |
| Atlas | PRCCID69 |
| 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 |
| Genomic and cartography | |
| GoldenPath (UCSC) | PRCC - 1q21.2 chr1:155003898-155037233 + 1q21.1 [Description] (hg18-Mar_2006) |
| Ensembl | PRCC - 1q21.1 [CytoView] |
| Mapping of homologs : NCBI | PRCC [Mapview] |
| OMIM | 179755 605074 |
| Gene and transcription | |
| Gene : Genbank (Entrez) | AA846273 AK126403 AK289872 BC004913 BC010450 |
| Reference sequence (RefSeq transcript) :SRS | NM_005973 NM_199416 |
| Reference transcript : Entrez | NM_005973 NM_199416 |
| RefSeq genomic : SRS | AC_000044 AC_000133 NC_000001 NG_008138 NT_004487 NW_001838531 NW_925683 |
| RefSeq genomic : Entrez | AC_000044 AC_000133 NC_000001 NG_008138 NT_004487 NW_001838531 NW_925683 |
| Consensus coding sequences : CCDS NCBI | PRCC |
| Cluster EST : Unigene | Hs.516948 [ SRS ] Hs.516948 [ NCBI ] |
| Alternative Splicing : Fast-db (Paris) | 17414 |
| Protein : pattern, domain, 3D structure | |
| Protein : UniProt/SwissProt | Q92733 (SRS) Q92733 (Expasy) Q92733 (Uniprot) |
| With graphics : InterPro | Q92733 |
| Splice isoforms : VarSplice FASTA | Q92733(VarSplice FASTA) |
| Related proteins : CluSTr | Q92733 |
| Domain families : Pfam SRS | |
| Domain families : Pfam Sanger | |
| Domain families : Pfam NCBI | |
| 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 | |
| HPRD | 01562 |
| Protein Interaction databases | |
| DIP (DOE-UCLA) | Q92733 |
| IntAct (EBI) | Q92733 |
| Polymorphism : SNP, mutations, diseases | |
| Single Nucleotide Polymorphism (SNP) : dbSNP NCBI | PRCC |
| SNP : GeneSNP Utah | PRCC |
| SNP : HGBase | PRCC |
| Genetic variants : HAPMAP | PRCC |
| Somatic Mutations in Cancer : COSMIC | PRCC |
| Mutations and Diseases : HGMD | PRCC |
| Hereditary diseases : OMIM | 179755 605074 |
| Hereditary diseases : GENETests | 179755 605074 |
| Diseases : Genetic Association | PRCC |
| General knowledge | |
| Homologs : HomoloGene | PRCC |
| Homology/Alignments : Family Browser UCSC | PRCC |
| Phylogenetic Trees/Animal Genes : TreeFam | PRCC |
| Chemical/Protein Interactions : CTD | 5546 |
| Keywords Ontology : AmiGO | |
| Keywords Ontology : EGO-EBI | |
| Pathways : BIOCARTA | |
| Pathways : KEGG | |
| Other databases | |
| Probes | |
| Probes : Imagenes | PRCC Related clones (RZPD - Berlin) |
| Literature | |
| PubMed | 13 Pubmed reference(s) in Entrez |
| PubGene | PRCC |
| 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 articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 01-1999 | Fran¨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 |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Jun 27 16:37:50 CEST 2009 |
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