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ADIPOR1 (adiponectin receptor 1)

Written2009-05Virginia Kaklamani, Christos Mantzoros
Department of Medicine, Division of Hematology/Oncology, Northwestern University, Feinberg School of Medicine, Chicago, IL, 676 N St Clair St. Suite 850, Chicago, IL 60611, USA (VK); Department of Medicine, Division of Endocrinology, Harvard University Medical School, Beth Israel Deaconess Medical Center, E/St 816, 330 Brookline Ave, Boston, MA02215, USA (CM)

(Note : for Links provided by Atlas : click)

Identity

Alias_symbol (synonym)PAQR1
ACDCR1
Other aliasCGI-45
CGI45
FLJ25385
FLJ42464
TESBP1A
HGNC (Hugo) ADIPOR1
LocusID (NCBI) 51094
Atlas_Id 44512
Location 1q32.1  [Link to chromosome band 1q32]
Location_base_pair Starts at 202940825 and ends at 202957984 bp from pter ( according to hg19-Feb_2009)  [Mapping ADIPOR1.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ADIPOR1 (1q32.1) / APEH (3p21.31)ADIPOR1 (1q32.1) / CYB5R1 (1q32.1)ADIPOR1 (1q32.1) / RGS8 (1q25.3)
BICC1 (10q21.1) / ADIPOR1 (1q32.1)FAM155A (13q33.3) / ADIPOR1 (1q32.1)

DNA/RNA

 
  Genomic structure of ADIPOR1. Blue boxes indicate exons.
Description Eight exons spanning 17.5 kb. Transcription is from telomere to centromere.
Transcription Transcription produces 11 different mRNAs, 10 alternatively spliced variants and 1 unspliced form. There are 6 probable alternative promoters, 2 non overlapping alternative last exons and 8 validated alternative polyadenylation sites. The mRNAs appear to differ by truncation of the 5' end, truncation of the 3' end, presence or absence of 6 cassette exons, overlapping exons with different boundaries. 9 spliced and the unspliced mRNAs putatively encode good proteins, altogether 9 different isoforms (3 complete, 6 partial), some containing Hly-III related proteins domain (Pfam) some transmembrane domains (Psort2); 1 of the 3 complete proteins appears to be secreted. The remaining mRNA variant (spliced) appears not to encode a good protein.

Protein

Description Receptor for globular and full-length adiponectin (APM1), an essential hormone secreted by adipocytes that counteracts the effects of insulin.
Expression Widely expressed. Highly expressed in adipose tissue and skeletal muscle. Expressed at intermediate level in brain, heart, spleen, kidney, liver, placenta, lung and peripheral blood leukocytes. Weakly expressed in colon, thymus and small intestine. We have also shown expression in normal and cancerous breast tissue as well as in other cancers such as prostate, colon, endometrial. It is also present in several cell lines.
Localisation ADIPOR1 localizes to the plasma membrane.
Function Receptor for globular and full-length adiponectin (APM1), an essential hormone secreted by adipocytes that acts as an antidiabetic. Probably involved in metabolic pathways that regulate lipid metabolism such as fatty acid oxidation. Mediates increased AMPK, PPARa ligand activity, fatty acid oxidation and glucose uptake by adiponectin. Has some high-affinity for globular adiponectin but low-affinity for full-length adiponectin.
Homology The mouse, human, and rat Adipor1 protein (ADIPOR1) contains 375 amino acids. Human and mouse ADIPOR1 share 96.8% identity.

Mutations

Note One functional polymorphism has been described. Rs7539542 has been found to modulate expression of ADIPOR1 mRNA (Soccio et al., 2006).

Implicated in

Note
  
Entity Breast Cancer
Note Adiponectin has been implicated in breast cancer. The breast cancer cell lines MCF-7, MDB-MB-231 and T47D were found to express both adiponectin receptors ADIPOR1/ADIPOR2 (Dieudonne et al., 2006; Korner et al., 2007) and exposure of T47D cells to adiponectin, significantly inhibited their proliferation (Korner et al., 2007). rs2232853 CT genotype (OR=1.67; 95% CI 1.23-2.26) and the combination of rs7539542 GC (OR=0.59; 95% CI 0.36-0.98) and CC genotypes (OR=0.57; 95% CI 0.35-0.94) were significantly associated with breast cancer risk. The high expressing rs2241766 G allele (GG and GT genotypes) was associated with decreased breast cancer risk (OR=0.64; 95% CI 0.49-0.83). The low expressing rs1501299 G allele was associated with increased breast cancer risk: for TG: OR=1.59; 95% CI 1.03-2.48, for GG: OR= 1.80; 95% CI 1.14-2.85.
  
  
Entity Colon Cancer
Note Adiponectin has also been implicated in colon cancer risk. rs266729 polymorphism was significantly associated with colon cancer risk: the RR for the GG/CG genotypes was rs266729 was associated with a reduced colorectal cancer risk: O.R. 0.73, 95% CI (0.53-0.99) (Kaklamani et al., 2008).
  
  
Entity Endometrial Cancer
Note Adiponectin levels have been shown to correlate with endometrial cancer risk (Petridou et al., 2003; Dal et al., 2004).
  
  
Entity Prostate Cancer
Note Adiponectin levels have been shown to correlate with prostate cancer risk (Barb et al., 2007; Arisan et al., 2009).
  

Bibliography

Serum adipocytokine levels in prostate cancer patients.
Arisan ED, Arisan S, Atis G, Palavan-Unsal N, Ergenekon E.
Urol Int. 2009;82(2):203-8. Epub 2009 Mar 19.
PMID 19322011
 
Adiponectin in relation to malignancies: a review of existing basic research and clinical evidence.
Barb D, Williams CJ, Neuwirth AK, Mantzoros CS.
Am J Clin Nutr. 2007 Sep;86(3):s858-66.
PMID 18265479
 
Circulating adiponectin and endometrial cancer risk.
Dal Maso L, Augustin LS, Karalis A, Talamini R, Franceschi S, Trichopoulos D, Mantzoros CS, La Vecchia C.
J Clin Endocrinol Metab. 2004 Mar;89(3):1160-3.
PMID 15001602
 
Adiponectin mediates antiproliferative and apoptotic responses in human MCF7 breast cancer cells.
Dieudonne MN, Bussiere M, Dos Santos E, Leneveu MC, Giudicelli Y, Pecquery R.
Biochem Biophys Res Commun. 2006 Jun 23;345(1):271-9. Epub 2006 Apr 27.
PMID 16678125
 
Variants of the adiponectin (ADIPOQ) and adiponectin receptor 1 (ADIPOR1) genes and colorectal cancer risk.
Kaklamani VG, Wisinski KB, Sadim M, Gulden C, Do A, Offit K, Baron JA, Ahsan H, Mantzoros C, Pasche B.
JAMA. 2008 Oct 1;300(13):1523-31.
PMID 18827209
 
Total and high-molecular-weight adiponectin in breast cancer: in vitro and in vivo studies.
Korner A, Pazaitou-Panayiotou K, Kelesidis T, Kelesidis I, Williams CJ, Kaprara A, Bullen J, Neuwirth A, Tseleni S, Mitsiades N, Kiess W, Mantzoros CS.
J Clin Endocrinol Metab. 2007 Mar;92(3):1041-8. Epub 2006 Dec 27.
PMID 17192291
 
Plasma adiponectin concentrations in relation to endometrial cancer: a case-control study in Greece.
Petridou E, Mantzoros C, Dessypris N, Koukoulomatis P, Addy C, Voulgaris Z, Chrousos G, Trichopoulos D.
J Clin Endocrinol Metab. 2003 Mar;88(3):993-7.
PMID 12629074
 
Common haplotypes at the adiponectin receptor 1 (ADIPOR1) locus are associated with increased risk of coronary artery disease in type 2 diabetes.
Soccio T, Zhang YY, Bacci S, Mlynarski W, Placha G, Raggio G, Di Paola R, Marucci A, Johnstone MT, Gervino EV, Abumrad NA, Klein S, Trischitta V, Doria A.
Diabetes. 2006 Oct;55(10):2763-70.
PMID 17003341
 

Citation

This paper should be referenced as such :
Kaklamani, V ; Mantzoros, C
ADIPOR1 (adiponectin receptor 1)
Atlas Genet Cytogenet Oncol Haematol. 2010;14(4):334-337.4/TR>
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/ADIPOR1ID44512ch1q32.html


External links

Nomenclature
HGNC (Hugo)ADIPOR1   24040
Cards
AtlasADIPOR1ID44512ch1q32
Entrez_Gene (NCBI)ADIPOR1  51094  adiponectin receptor 1
AliasesACDCR1; CGI-45; CGI45; PAQR1; 
TESBP1A
GeneCards (Weizmann)ADIPOR1
Ensembl hg19 (Hinxton)ENSG00000159346 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000159346 [Gene_View]  chr1:202940825-202957984 [Contig_View]  ADIPOR1 [Vega]
ICGC DataPortalENSG00000159346
TCGA cBioPortalADIPOR1
AceView (NCBI)ADIPOR1
Genatlas (Paris)ADIPOR1
WikiGenes51094
SOURCE (Princeton)ADIPOR1
Genetics Home Reference (NIH)ADIPOR1
Genomic and cartography
GoldenPath hg38 (UCSC)ADIPOR1  -     chr1:202940825-202957984 -  1q32.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ADIPOR1  -     1q32.1   [Description]    (hg19-Feb_2009)
EnsemblADIPOR1 - 1q32.1 [CytoView hg19]  ADIPOR1 - 1q32.1 [CytoView hg38]
Mapping of homologs : NCBIADIPOR1 [Mapview hg19]  ADIPOR1 [Mapview hg38]
OMIM607945   
Gene and transcription
Genbank (Entrez)AF125179 AF125180 AF151803 AI251444 AK001484
RefSeq transcript (Entrez)NM_001290553 NM_001290557 NM_001290629 NM_015999
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ADIPOR1
Cluster EST : UnigeneHs.713729 [ NCBI ]
CGAP (NCI)Hs.713729
Alternative Splicing GalleryENSG00000159346
Gene ExpressionADIPOR1 [ NCBI-GEO ]   ADIPOR1 [ EBI - ARRAY_EXPRESS ]   ADIPOR1 [ SEEK ]   ADIPOR1 [ MEM ]
Gene Expression Viewer (FireBrowse)ADIPOR1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51094
GTEX Portal (Tissue expression)ADIPOR1
Human Protein AtlasENSG00000159346-ADIPOR1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96A54   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96A54  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96A54
Splice isoforms : SwissVarQ96A54
PhosPhoSitePlusQ96A54
Domains : Interpro (EBI)AdipoR/HlyIII-related   
Domain families : Pfam (Sanger)HlyIII (PF03006)   
Domain families : Pfam (NCBI)pfam03006   
Conserved Domain (NCBI)ADIPOR1
DMDM Disease mutations51094
Blocks (Seattle)ADIPOR1
PDB (SRS)3WXV   
PDB (PDBSum)3WXV   
PDB (IMB)3WXV   
PDB (RSDB)3WXV   
Structural Biology KnowledgeBase3WXV   
SCOP (Structural Classification of Proteins)3WXV   
CATH (Classification of proteins structures)3WXV   
SuperfamilyQ96A54
Human Protein Atlas [tissue]ENSG00000159346-ADIPOR1 [tissue]
Peptide AtlasQ96A54
HPRD06402
IPIIPI00059263   IPI00719009   IPI00641650   IPI00643496   
Protein Interaction databases
DIP (DOE-UCLA)Q96A54
IntAct (EBI)Q96A54
FunCoupENSG00000159346
BioGRIDADIPOR1
STRING (EMBL)ADIPOR1
ZODIACADIPOR1
Ontologies - Pathways
QuickGOQ96A54
Ontology : AmiGOplasma membrane  plasma membrane  G-protein coupled receptor signaling pathway  hormone-mediated signaling pathway  negative regulation of epithelial cell migration  negative regulation of epithelial to mesenchymal transition  regulation of glucose metabolic process  membrane  integral component of membrane  regulation of lipid metabolic process  fatty acid oxidation  protein kinase binding  negative regulation of cell growth  intrinsic component of plasma membrane  leptin-mediated signaling pathway  adiponectin-activated signaling pathway  regulation of fatty acid biosynthetic process  glucose homeostasis  identical protein binding  negative regulation of JAK-STAT cascade  positive regulation of JAK-STAT cascade  positive regulation of insulin receptor signaling pathway  metal ion binding  protein heterodimerization activity  adiponectin binding  adipokinetic hormone receptor activity  negative regulation of NIK/NF-kappaB signaling  
Ontology : EGO-EBIplasma membrane  plasma membrane  a hruf˝ http://www.ebi.ac.uk/ego/DisplayGoTerm?id=GO:0007186 TARGET=EGO>G-protein coupled receptor signaling pathway  hormone-mediated signaling pathway  negative regulation of epithelial cell migration  negative regulation of epithelial to mesenchymal transition  regulation of glucose metabolic process  membrane  integral component of membrane  regulation of lipid metabolic process  fatty acid oxidation  protein kinase binding  negative regulation of cell growth  intrinsic component of plasma membrane  leptin-mediated signaling pathway  adiponectin-activated signaling pathway  regulation of fatty acid biosynthetic process  glucose homeostasis  identical protein binding  negative regulation of JAK-STAT cascade  positive regulation of JAK-STAT cascade  positive regulation of insulin receptor signaling pathway  metal ion binding  protein heterodimerization activity  adiponectin binding  adipokinetic hormone receptor activity  negative regulation of NIK/NF-kappaB signaling  
Pathways : KEGGAdipocytokine signaling pathway    Non-alcoholic fatty liver disease (NAFLD)   
NDEx NetworkADIPOR1
Atlas of Cancer Signalling NetworkADIPOR1
Wikipedia pathwaysADIPOR1
Orthology - Evolution
OrthoDB51094
GeneTree (enSembl)ENSG00000159346
Phylogenetic Trees/Animal Genes : TreeFamADIPOR1
HOVERGENQ96A54
HOGENOMQ96A54
Homologs : HomoloGeneADIPOR1
Homology/Alignments : Family Browser (UCSC)ADIPOR1
Gene fusions - Rearrangements
Fusion : MitelmanADIPOR1/CYB5R1 [1q32.1/1q32.1]  
Fusion : MitelmanADIPOR1/RGS8 [1q32.1/1q25.3]  [t(1;1)(q25;q32)]  
Fusion: TCGA_MDACCADIPOR1 1q32.1 CYB5R1 1q32.1 BRCA
Fusion: TCGA_MDACCADIPOR1 1q32.1 RGS8 1q25.3 BRCA
Tumor Fusion PortalADIPOR1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerADIPOR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ADIPOR1
dbVarADIPOR1
ClinVarADIPOR1
1000_GenomesADIPOR1 
Exome Variant ServerADIPOR1
ExAC (Exome Aggregation Consortium)ENSG00000159346
GNOMAD BrowserENSG00000159346
Genetic variants : HAPMAP51094
Genomic Variants (DGV)ADIPOR1 [DGVbeta]
DECIPHERADIPOR1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisADIPOR1 
Mutations
ICGC Data PortalADIPOR1 
TCGA Data PortalADIPOR1 
Broad Tumor PortalADIPOR1
OASIS PortalADIPOR1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICADIPOR1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDADIPOR1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ADIPOR1
DgiDB (Drug Gene Interaction Database)ADIPOR1
DoCM (Curated mutations)ADIPOR1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ADIPOR1 (select a term)
intoGenADIPOR1
NCG5 (London)ADIPOR1
Cancer3DADIPOR1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607945   
Orphanet
DisGeNETADIPOR1
MedgenADIPOR1
Genetic Testing Registry ADIPOR1
NextProtQ96A54 [Medical]
TSGene51094
GENETestsADIPOR1
Target ValidationADIPOR1
Huge Navigator ADIPOR1 [HugePedia]
snp3D : Map Gene to Disease51094
BioCentury BCIQADIPOR1
ClinGenADIPOR1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51094
Chemical/Pharm GKB GenePA134861801
Clinical trialADIPOR1
Miscellaneous
canSAR (ICR)ADIPOR1 (select the gene name)
Probes
Litterature
PubMed201 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineADIPOR1
EVEXADIPOR1
GoPubMedADIPOR1
iHOPADIPOR1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 15 12:15:05 CET 2017

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