Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CMKOR1

Identity

Other namesRDC1
GPRN159
G protein-coupled receptor
chemokine orphan receptor 1
G protein-coupled receptor RDC1 homolog
HGNC CXCR7
Location 2q37.3
Local_order Telomeric to IQCA
Centromeric to COPS8
Note RDC1 was originally thought to be the receptor for VIP.

DNA/RNA

Description The genomic size has been estimated to approximately 12.5-13.5 kb. RDC1 has previously been reported to contain only one exon of 1,09 kbp. However, the finding of a RDC1 transcript corresponding to four different regions with exon/intron boundaries in the BAC 514f21 suggests a more complex gene structure. The predicted amino acid sequence of exon 3 and 4 does not show any homology to the protein databases and, since they both contribute with stop codons, it could be questioned whether these sequences represent exons, or are part of an alternatively spliced 3' untranslated region of the gene.
Pseudogene None

Protein

Description 362 amino acids; 41522 Da
Expression RDC1 is expressed in embryological, juvenile as well as adult tissues. Expression has been reported in e.g. bladder, spleen, heart, skeletal muscle, peripheral nervous system and placenta.
Localisation Integral membrane protein
Function Orphan receptor, but its endogenous ligand has not yet been identified. The protein is also a coreceptor for human immunodeficiency viruses (HIV). RDC1 belongs to a family of G-protein coupled receptors, which includes hormone, neurotransmitter and light receptors, all of which transduce extracellular signals through interaction with guanine nucleotide (G) binding proteins.
Homology RDC1 displays homology to other members of the large family of G-protein coupled receptors.

Mutations

Germinal Single nucleotide polymorphisms
Somatic Translocations involving RDC1 and HMGA2 has been reported in three lipomas (see below).

Implicated in

Entity Lipoma,
Disease Benign adipocyte tumor
Prognosis Good
Cytogenetics Translocations involving 2q35-37 and 12q13-15 have been reported in six lipomas
Hybrid/Mutated Gene Fusion between RDC1 and HMGA2 has been reported in three lipomas with rearrangement involving 2q35-37 and 12q13-15. The breakpoint occurred after the third exon of HMGA2, the most common breakpoint of this gene, and in a previously unknown 3' part of the RDC1 gene. The RDC1 part of the fusion was over 300 bp.
Abnormal Protein The functional impact of this fusion is most likely a truncation of HMGA2, since the RDC1 part contributes with a stop codon one amino acid downstream of the breakpoint.
Oncogenesis Not yet established
  
Entity Tenosynovial giant cell tumours
Disease Benign tumor of synovium and tendon sheath
Prognosis Good
Cytogenetics Translocations involving 1p11-13 and 2q35-37 have been reported in eight cases of tenosynovial giant cell tumours.
Hybrid/Mutated Gene Four out of seven cases of tenosynovial giant cell tumours with aberrations of 2q35-37 had breakpoints in a BAC probe 260J21 (BACPAC, Oakland), which contains the RDC1 gene.
  

External links

Nomenclature
HGNCCXCR7   23692
Entrez_GeneCXCR7  57007  chemokine (C-X-C motif) receptor 7
Cards
AtlasCMKOR1ID40108ch2q37
GeneCardsCXCR7
EnsemblCXCR7 [Search_View]   ENSG00000144476 [Gene_View]
GenatlasCXCR7
GeneLynxCXCR7
eGenomeCXCR7
euGene57007
Genomic and cartography
GoldenPathCXCR7  -  2q37.3   chr2:237143119-237155733 +  2q37.3   [Description]    (hg18-Mar_2006)
EnsemblCXCR7 - 2q37.3 [CytoView]
NCBIMapview
OMIMDisease map [OMIM]
HomoloGeneCXCR7
Gene and transcription
GenbankAF030297 [ ENTREZ ]
GenbankAK291659 [ ENTREZ ]
GenbankBC008459 [ ENTREZ ]
GenbankBC036661 [ ENTREZ ]
GenbankBM925428 [ ENTREZ ]
RefSeqNM_020311 [ SRS ]    NM_020311 [ ENTREZ ]
RefSeqAC_000045 [ SRS ]    AC_000045 [ ENTREZ ]
RefSeqAC_000134 [ SRS ]    AC_000134 [ ENTREZ ]
RefSeqNC_000002 [ SRS ]    NC_000002 [ ENTREZ ]
RefSeqNT_005120 [ SRS ]    NT_005120 [ ENTREZ ]
RefSeqNW_001838870 [ SRS ]    NW_001838870 [ ENTREZ ]
RefSeqNW_921618 [ SRS ]    NW_921618 [ ENTREZ ]
AceViewCXCR7 AceView - NCBI
UnigeneHs.471751 [ SRS ]    Hs.471751 [ NCBI ]     HS471751 [ spliceNest ]
Fast-db16112 (alternative variants)
Protein : pattern, domain, 3D structure
SwissProtP25106 [ SRS]    P25106 [ EXPASY ]     P25106 [ INTERPRO ]     P25106 [ UNIPROT ]
PrositePS00237 G_PROTEIN_RECEP_F1_1 [ SRS ]    PS00237 G_PROTEIN_RECEP_F1_1 [ Expasy ]
PrositePS50262 G_PROTEIN_RECEP_F1_2 [ SRS ]    PS50262 G_PROTEIN_RECEP_F1_2 [ Expasy ]
InterproIPR000276 GPCR_Rhodpsn [ SRS ]    IPR000276 GPCR_Rhodpsn [ EBI ]
InterproIPR017452 GPCR_Rhodpsn_supfam [ SRS ]    IPR017452 GPCR_Rhodpsn_supfam [ EBI ]
InterproIPR001416 RDC1_rcpt [ SRS ]    IPR001416 RDC1_rcpt [ EBI ]
CluSTrP25106
PfamPF00001 7tm_1 [ SRS ]    PF00001 7tm_1 [ Sanger ]    pfam00001 [ NCBI-CDD ]
BlocksP25106
HPRD09882
Protein Interaction databases
DIPP25106
IntActP25106
Polymorphism : SNP, mutations, diseases
OMIM610376    [ map ]   
GENECLINICS610376
SNPCXCR7 [dbSNP-NCBI]  
SNPNM_020311 [SNP-NCI]  
SNPCXCR7 [GeneSNPs - Utah]  CXCR7] [HGBASE - SRS]
HAPMAPCXCR7 [HAPMAP]  
COSMICCXCR7 [Somatic mutation (COSMIC-CGP-Sanger)]  
HGMDCXCR7
General knowledge
Family BrowserCXCR7 [UCSC Family Browser]
SOURCENM_020311
SMDHs.471751
SAGEHs.471751
GOrhodopsin-like receptor activity [Amigo]  rhodopsin-like receptor activity
GOreceptor activity [Amigo]  receptor activity
GOplasma membrane [Amigo]  plasma membrane
GOsignal transduction [Amigo]  signal transduction
GOG-protein coupled receptor protein signaling pathway [Amigo]  G-protein coupled receptor protein signaling pathway
GObiological_process [Amigo]  biological_process
GOintegral to membrane [Amigo]  integral to membrane
GOinterspecies interaction between organisms [Amigo]  interspecies interaction between organisms
PubGeneCXCR7
TreeFamCXCR7
CTD57007 [Comparative ToxicoGenomics Database]
Other databases
Probes
ProbeCXCR7 Related clones (RZPD - Berlin)
PubMed
PubMed15 Pubmed reference(s) in LocusLink

Bibliography

Cloning and expression of the human vasoactive intestinal peptide receptor.
Sreedharan SP, Robichon A, Peterson KE, Goetzl EJ
Proceedings of the National Academy of Sciences of the United States of America. 1991 ; 88 (11) : 4986-4990.
PMID 1675791
 
RDC1 may not be VIP receptor.
Nagata S, Ishihara T, Robberecht P, Libert F, Parmentier M, Christophe J, Vassart G
Trends in pharmacological sciences. 1992 ; 13 (3) : 102-103.
PMID 1315461
 
A putative G protein-coupled receptor, RDC1, is a novel coreceptor for human and simian immunodeficiency viruses.
Shimizu N, Soda Y, Kanbe K, Liu HY, Mukai R, Kitamura T, Hoshino H
Journal of virology. 2000 ; 74 (2) : 619-626.
PMID 10623723
 
Fusion of RDC1 with HMGA2 in lipomas as the result of chromosome aberrations involving 2q35-37 and 12q13-15.
Broberg K, Zhang M, Strˆmbeck B, Isaksson M, Nilsson M, Mertens F, Mandahl N, Panagopoulos I
International journal of oncology. 2002 ; 21 (2) : 321-326.
PMID 12118328
 
Molecular cytogenetic mapping of recurrent chromosomal breakpoints in tenosynovial giant cell tumors.
Nilsson M, Hˆglund M, Panagopoulos I, Sciot R, Dal Cin P, Debiec-Rychter M, Mertens F, Mandahl N
Virchows Archiv : an international journal of pathology. 2002 ; 441 (5) : 475-480.
PMID 12447678
 
Vascular gene expression in nonneoplastic and malignant brain.
Madden SL, Cook BP, Nacht M, Weber WD, Callahan MR, Jiang Y, Dufault MR, Zhang X, Zhang W, Walter-Yohrling J, Rouleau C, Akmaev VR, Wang CJ, Cao X, St Martin TB, Roberts BL, Teicher BA, Klinger KW, Stan RV, Lucey B, Carson-Walter EB, Laterra J, Walter KA
The American journal of pathology. 2004 ; 165 (2) : 601-608.
PMID 15277233
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written11-2004Karin Broberg

Citation

This paper should be referenced as such :
Broberg K . CMKOR1. Atlas Genet Cytogenet Oncol Haematol. November 2004 .
URL : http://AtlasGeneticsOncology.org/Genes/CMKOR1ID40108ch2q37.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Aug 11 21:13:04 2008


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