| Identity |
| HGNC (Hugo) | DIRC1 |
| Location | 2q33 |
| Location_base_pair | Starts at 189306710 and ends at 189363076 bp from pter ( according to hg18-Mar_2006) [Mapping] |
| DNA/RNA |
| Description | The DIRC1 gene contains 2 exons and spans approximately 57 kb of genomic DNA |
| Protein |
| Description | 104 amino acids |
| Expression | Expression in adult placenta, testis, ovary, prostate, and in fetal kidney, spleen, and skeletal muscle. |
| Function | unknown |
| Implicated in |
| Entity | t(2;3)(q33;q21) in hereditary renal cell cancer. |
| Disease | Familial renal cell cancer. |
| Cytogenetics | Disruption of the gene because of the t(2;3) translocation. |
| External links |
| Nomenclature | |
|---|---|
| HGNC (Hugo) | DIRC1 15760 |
| Entrez_Gene (NCBI) | DIRC1 116093 disrupted in renal carcinoma 1 |
| Cards | |
| Atlas | DIRC1ID499 |
| GeneCards (Weizmann) | DIRC1 |
| Ensembl (Hinxton) | ENSG00000174325 [Gene_View] DIRC1 [Vega] |
| AceView (NCBI) | DIRC1 |
| Genatlas (Paris) | DIRC1 |
| euGene (Indiana) | 116093 |
| SOURCE (Stanford) | NM_052952 |
| Gene Expression (Array Express) | ENSG00000174325 |
| Genomic and cartography | |
| GoldenPath (UCSC) | DIRC1 - 2q33 chr2:189306710-189363076 - 2q33 [Description] (hg18-Mar_2006) |
| Ensembl | DIRC1 - 2q33 [CytoView] |
| Mapping of homologs : NCBI | DIRC1 [Mapview] |
| OMIM | 606423 |
| Gene and transcription | |
| Gene : Genbank (Entrez) | AY039011 BC125137 |
| Reference sequence (RefSeq transcript) :SRS | NM_052952 |
| Reference transcript : Entrez | NM_052952 |
| RefSeq genomic : SRS | AC_000045 AC_000134 NC_000002 NT_005403 NW_001838863 NW_921585 |
| RefSeq genomic : Entrez | AC_000045 AC_000134 NC_000002 NT_005403 NW_001838863 NW_921585 |
| Consensus coding sequences : CCDS NCBI | DIRC1 |
| Cluster EST : Unigene | Hs.470892 [ SRS ] Hs.470892 [ NCBI ] |
| Alternative Splicing : Fast-db (Paris) | 13707 |
| Protein : pattern, domain, 3D structure | |
| Protein : UniProt/SwissProt | Q969H9 (SRS) Q969H9 (Expasy) Q969H9 (Uniprot) |
| With graphics : InterPro | Q969H9 |
| Splice isoforms : VarSplice FASTA | Q969H9(VarSplice FASTA) |
| Related proteins : CluSTr | Q969H9 |
| Domain families : Pfam SRS | |
| Domain families : Pfam Sanger | |
| Domain families : Pfam NCBI | |
| Blocks (Seattle) | Q969H9 |
| Crystal structure of protein : PDB SRS | |
| Crystal structure of protein : PDBSum | |
| Crystal structure of protein : IMB | |
| Crystal structure of protein : PDB RSDB | |
| HPRD | 16219 |
| Protein Interaction databases | |
| DIP (DOE-UCLA) | Q969H9 |
| IntAct (EBI) | Q969H9 |
| Polymorphism : SNP, mutations, diseases | |
| Single Nucleotide Polymorphism (SNP) : dbSNP NCBI | DIRC1 |
| SNP : GeneSNP Utah | DIRC1 |
| SNP : HGBase | DIRC1 |
| Genetic variants : HAPMAP | DIRC1 |
| Somatic Mutations in Cancer : COSMIC | DIRC1 |
| Mutations and Diseases : HGMD | DIRC1 |
| Hereditary diseases : OMIM | 606423 |
| Hereditary diseases : GENETests | 606423 |
| Diseases : Genetic Association | DIRC1 |
| General knowledge | |
| Homologs : HomoloGene | DIRC1 |
| Homology/Alignments : Family Browser UCSC | DIRC1 |
| Phylogenetic Trees/Animal Genes : TreeFam | DIRC1 |
| Chemical/Protein Interactions : CTD | 116093 |
| Keywords Ontology : AmiGO | |
| Keywords Ontology : EGO-EBI | |
| Pathways : BIOCARTA | |
| Pathways : KEGG | |
| Other databases | |
| Probes | |
| Probes : Imagenes | DIRC1 Related clones (RZPD - Berlin) |
| Literature | |
| PubMed | 4 Pubmed reference(s) in Entrez |
| PubGene | DIRC1 |
| Bibliography |
| The DIRC1 gene at chromosome 2q33 spans a familial RCC-associated t(2;3)(q33;q21) chromosome translocation. |
| Druck T, Podolski J, Byrski T, Wyrwicz L, Zajaczek S, Kata G, Borowka A, Lubinski J, Huebner K |
| Journal of human genetics. 2001 ; 46 (10) : 583-589. |
| PMID 11587072 |
| Characterization of a familial RCC-associated t(2;3)(q33;q21) chromosome translocation. |
| Podolski J, Byrski T, Zajaczek S, Druck T, Zimonjic DB, Popescu NC, Kata G, Borowka A, Gronwald J, Lubinski J, Huebner K |
| Journal of human genetics. 2001 ; 46 (12) : 685-693. |
| PMID 11776380 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 06-2004 | Anita Bonné, Eric Schoenmakers, Ad Geurts van Kessel |
| Citation |
| This paper should be referenced as such : |
| Bonné A, Schoenmakers EFPMG, Geurts van Kessel A . DIRC1 disrupted in renal carcinoma 1. Atlas Genet Cytogenet Oncol Haematol. June 2004 . URL : http://AtlasGeneticsOncology.org/Genes/DIRC1ID499.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Feb 27 10:50:31 CET 2010 |
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