DIRC1

Identity

HGNC	DIRC1
Location	2q33
Location_base_pair	Starts at 189306710 and ends at 189363076 bp from pter ( according to hg18-Mar_2006).

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	DIRC1   15760
Entrez_Gene	DIRC1  116093  disrupted in renal carcinoma 1
	Cards
Atlas	DIRC1ID499
GeneCards	DIRC1
Ensembl	DIRC1 [Search_View]   ENSG00000174325 [Gene_View]  DIRC1 [Vega]
Genatlas	DIRC1
GeneLynx	DIRC1
eGenome	DIRC1
euGene	116093
	Genomic and cartography
GoldenPath	DIRC1  -  2q33   chr2:189306710-189363076 -  2q33   [Description]    (hg18-Mar_2006)
Ensembl	DIRC1 - 2q33 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	DIRC1
	Gene and transcription
Genbank	AY039011 [ ENTREZ ]
Genbank	BC125137 [ ENTREZ ]
RefSeq	NM_052952 [ SRS ]    NM_052952 [ ENTREZ ]
RefSeq	AC_000045 [ SRS ]    AC_000045 [ ENTREZ ]
RefSeq	AC_000134 [ SRS ]    AC_000134 [ ENTREZ ]
RefSeq	NC_000002 [ SRS ]    NC_000002 [ ENTREZ ]
RefSeq	NT_005403 [ SRS ]    NT_005403 [ ENTREZ ]
RefSeq	NW_001838863 [ SRS ]    NW_001838863 [ ENTREZ ]
RefSeq	NW_921585 [ SRS ]    NW_921585 [ ENTREZ ]
CCDS	DIRC1 CCDS - NCBI
AceView	DIRC1 AceView - NCBI
Unigene	Hs.470892 [ SRS ]    Hs.470892 [ NCBI ]     HS470892 [ spliceNest ]
Fast-db	13707 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	Q969H9 [ SRS]    Q969H9 [ EXPASY ]     Q969H9 [ INTERPRO ]     Q969H9 [ UNIPROT ] Q969H9 [ VarSplice ]
CluSTr	Q969H9
Blocks	Q969H9
HPRD	16219
	Protein Interaction databases
DIP	Q969H9
IntAct	Q969H9
	Polymorphism : SNP, mutations, diseases
OMIM	606423    [ map ]
GENECLINICS	606423
SNP	DIRC1 [dbSNP-NCBI]
SNP	NM_052952 [SNP-NCI]
SNP	DIRC1 [GeneSNPs - Utah]  DIRC1] [HGBASE - SRS]
HAPMAP	DIRC1 [HAPMAP]
HGMD	DIRC1
Genetic Association	DIRC1
CDC HuGE	DIRC1
	General knowledge
Family Browser	DIRC1 [UCSC Family Browser]
SOURCE	NM_052952
SMD	Hs.470892
SAGE	Hs.470892
PubGene	DIRC1
TreeFam	DIRC1
CTD	116093 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	DIRC1 Related clones (RZPD - Berlin)
	PubMed
PubMed	4 Pubmed reference(s) in Entrez

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

Search in all EBI   NCBI

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. 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 : Sun Nov 9 19:39:35 2008