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DIRC1 (disrupted in renal carcinoma 1)

Identity

HGNC (Hugo) DIRC1
LocusID (NCBI) 116093
Location 2q33
Location_base_pair Starts at 189598465 and ends at 189654831 bp from pter ( according to hg19-Feb_2009)  [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
AtlasDIRC1ID499
GeneCards (Weizmann)DIRC1
Ensembl (Hinxton)ENSG00000174325 [Gene_View]  chr2:189598465-189654831 [Contig_View]  DIRC1 [Vega]
AceView (NCBI)DIRC1
Genatlas (Paris)DIRC1
euGene (Indiana)116093
SOURCE (Stanford)NM_052952
Genomic and cartography
GoldenPath (UCSC)DIRC1  -  2q33   chr2:189598465-189654831 -  2q33   [Description]    (hg19-Feb_2009)
EnsemblDIRC1 - 2q33 [CytoView]
Mapping of homologs : NCBIDIRC1 [Mapview]
OMIM606423   
Gene and transcription
Genbank (Entrez)AY039011 BC125137
RefSeq transcript (SRS)NM_052952
RefSeq transcript (Entrez)NM_052952
RefSeq genomic (SRS)AC_000134 NC_000002 NG_027691 NT_005403 NW_001838863
RefSeq genomic (Entrez)AC_000134 NC_000002 NG_027691 NT_005403 NW_001838863
Consensus coding sequences : CCDS (NCBI)DIRC1
Cluster EST : UnigeneHs.470892 [ SRS ] Hs.470892 [ NCBI ]
Alternative Splicing : Fast-db (Paris)13707
Alternative Splicing GalleryENSG00000174325
Gene ExpressionDIRC1 [ NCBI-GEO ]   DIRC1 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ969H9 (SRS) Q969H9 (Uniprot)
With graphics : InterProQ969H9
Splice isoforms : SwissVarQ969H9(Swissvar)
Related proteins : CluSTrQ969H9
Domain families : Pfam (SRS)
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Blocks (Seattle)Q969H9
Human Protein AtlasENSG00000174325
HPRD16219
IPIIPI00056360   
Protein Interaction databases
DIP (DOE-UCLA)Q969H9
IntAct (EBI)Q969H9
FunCoupENSG00000174325
REACTOMEDIRC1
BioGRIDDIRC1
InParanoidQ969H9
Interologous Interaction database Q969H9
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)DIRC1
SNP (GeneSNP Utah)DIRC1
SNP : HGBaseDIRC1
Genetic variants : HAPMAPDIRC1
Somatic Mutations in Cancer : COSMICDIRC1 
CONAN: Copy Number AnalysisDIRC1 
Mutations and Diseases : HGMDDIRC1
OMIM606423   
GENETests606423   
Disease Genetic AssociationDIRC1
Huge Navigator DIRC1 [HugePedia]  DIRC1 [HugeCancerGEM]
Genomic VariantsDIRC1
snp3D : Map Gene to Disease116093
General knowledge
Homologs : HomoloGeneDIRC1
Homology/Alignments : Family Browser (UCSC)DIRC1
Phylogenetic Trees/Animal Genes : TreeFamDIRC1
Chemical/Protein Interactions : CTD116093
Chemical/Pharm GKB GenePA27340
Clinical trialDIRC1
Cancer Resource (Charite)ENSG00000174325
Ontology : AmiGO
Ontology : EGO-EBI
Other databases
Probes
Probes : ImagenesDIRC1 Related clones (RZPD - Berlin)
Litterature
PubMed6 Pubmed reference(s) in Entrez
PubGeneDIRC1
iHOPDIRC1

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 articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written06-2004Anita 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

This paper is referenced by INIST as such :
http://documents.irevues.inist.fr/bitstream/2042/38100/1/06-2004-DIRC1ID499.pdf   [ Bibliographic record ]

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