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    MC5R melanocortin 5 receptor [ Homo sapiens ]

    Gene ID: 4161, updated on 11-May-2012
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    Summary

    Official Symbol
    MC5Rprovided by HGNC
    Official Full Name
    melanocortin 5 receptorprovided by HGNC
    Primary source
    HGNC:6933
    See related
    Ensembl:ENSG00000176136; HPRD:08965; MIM:600042; Vega:OTTHUMG00000131720
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MC2
    Summary
    This gene encodes a member of the seven-pass transmembrane G protein-coupled melanocortin receptor protein family that stimulate cAMP signal transduction. The encoded protein is a receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone and is suggested to play a role in sebum generation. [provided by RefSeq, Jun 2010]
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    Genomic context

    Location :
    18p11.2
    Sequence :
    Chromosome: 18; NC_000018.9 (13825543..13826861)
    See MC5R in Epigenomics, MapViewer

    Chromosome 18 - NC_000018.9Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 210, member A Neighboring gene RNA (guanine-7-) methyltransferase Neighboring gene melanocortin 2 receptor (adrenocorticotropic hormone) Neighboring gene ribosomal protein L36a pseudogene 49

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. A melanocortin receptor 1 and 5 antagonist inhibits sebaceous gland differentiation and the production of sebum-specific lipids. Eisinger M, et al. J Dermatol Sci, 2011 Jul. PMID 21602033.
    2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. Bailey SD, et al. Diabetes Care, 2010 Oct. PMID 20628086.
    3. Association study of 182 candidate genes in anorexia nervosa. Pinheiro AP, et al. Am J Med Genet B Neuropsychiatr Genet, 2010 Jul. PMID 20468064.
    4. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. Talmud PJ, et al. Am J Hum Genet, 2009 Nov. PMID 19913121.
    5. Two complex genotypes relevant to the kynurenine pathway and melanotropin function show association with schizophrenia and bipolar disorder. Miller CL, et al. Schizophr Res, 2009 Sep. PMID 19502010.

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Data suggest that antagonists of MC1R and MC5R could be effective inhibitors of sebaceous gland differentiation and the production of sebum-specific lipids.
      Title: A melanocortin receptor 1 and 5 antagonist inhibits sebaceous gland differentiation and the production of sebum-specific lipids.
    2. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    3. MC5R signals through a PI3K-regulated Akt-independent pathway leading to downstream activation of ERK1/2
      Title: Melanocortin 5 receptor activates ERK1/2 through a PI3K-regulated signaling mechanism.
    4. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Two complex genotypes relevant to the kynurenine pathway and melanotropin function show association with schizophrenia and bipolar disorder.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association study of 182 candidate genes in anorexia nervosa.
    6. Observational study of genotype prevalence. (HuGE Navigator)
      Title: Expression, candidate gene, and population studies of the melanocortin 5 receptor.
    7. Further structure-activity studies of lactam derivatives of MT-II and SHU-9119 were made at MC5R.
      Title: Further structure-activity studies of lactam derivatives of MT-II and SHU-9119: their activity and selectivity at human melanocortin receptors 3, 4, and 5.
    8. Outlining the ligand recognition sites in the melanocortin receptors.
      Title: Proteochemometric mapping of the interaction of organic compounds with melanocortin receptor subtypes.
    9. Variations in the melanocortin 5 receptor gene are unlikely to confer susceptibility to bipolar disorder in this sample.
      Title: Lack of association between variations in the melanocortin 5 receptor gene and bipolar disorder.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P33032 O00253 AGRP    HPRD  PubMed  
    P33032 P42127 ASIP    HPRD  PubMed  
    P33032 P33032 MC5R    HPRD  PubMed  
    P33032 P01189 POMC    HPRD  PubMed  
    BioGRID:110331 BioGRID:111439 POMC    BioGRID  PubMed Reconstituted Complex 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Class A/1 (Rhodopsin-like receptors), organism-specific biosystem (from REACTOME)
      Class A/1 (Rhodopsin-like receptors), organism-specific biosystemRhodopsin-like receptors (class A/1) are the largest group of GPCRs and are the best studied group from a functional and structural point of view. They show great diversity at the sequence level and ...
    • G alpha (s) signalling events, organism-specific biosystem (from REACTOME)
      G alpha (s) signalling events, organism-specific biosystemThe general function of the G alpha (s) subunit (Gs) is to activate adenylate cyclase, which in turn produces cAMP, leading to the activation of cAMP-dependent protein kinases (often referred to col...
    • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
      GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
    • GPCR ligand binding, organism-specific biosystem (from REACTOME)
      GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
    • GPCRs, Class A Rhodopsin-like, organism-specific biosystem (from WikiPathways)
      GPCRs, Class A Rhodopsin-like, organism-specific biosystemThis pathway was created using the GPCRDB (Horn et al., 1998), http://www.cmbi.kun.nl/7tm/. The groupings are based on the GPCR phylogenetic tree available from the GPCRDB and the training sets used ...
    • Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
      Neuroactive ligand-receptor interaction, organism-specific biosystem
      Neuroactive ligand-receptor interaction
    • Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
      Neuroactive ligand-receptor interaction, conserved biosystem
      Neuroactive ligand-receptor interaction
    • Peptide GPCRs, organism-specific biosystem (from WikiPathways)
      Peptide GPCRs, organism-specific biosystem
      Peptide GPCRs
    • Peptide ligand-binding receptors, organism-specific biosystem (from REACTOME)
      Peptide ligand-binding receptors, organism-specific biosystemThese receptors, a subset of the Class A/1 (Rhodopsin-like) family, all bind peptide ligands which include the chemokines, opioids and somatostatins.
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by GPCR, organism-specific biosystem (from REACTOME)
      Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    G-protein coupled receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    hormone binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    melanocortin receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    signal transducer activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    G-protein signaling, coupled to cyclic nucleotide second messenger TAS
    Traceable Author Statement
    more info
    		 PubMed 
    positive regulation of cAMP biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    integral to plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
    		  
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    General protein information

    Preferred Names
    melanocortin receptor 5
    Names
    melanocortin receptor 5
    melanocortin-5 receptor
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_005913.2 → NP_005904.1  melanocortin receptor 5

      Status: REVIEWED

      Source sequence(s)
      AP001525, BC095531
      Consensus CDS
      CCDS11868.1
      UniProtKB/Swiss-Prot
      P33032
      Related
      ENSP00000318077, OTTHUMP00000162511, ENST00000324750, OTTHUMT00000254638
      Conserved Domains (2) summary
      pfam00001
      Location:60 – 295
      Blast Score: 315
      7tm_1; 7 transmembrane receptor (rhodopsin family)
      cl10458
      Location:48 – 309
      Blast Score: 92
      7tm_4; Olfactory receptor

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000018.9 Reference GRCh37.p5 Primary Assembly

      Range
      13825543..13826861
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000150.1 Alternate HuRef

      Range
      13778780..13780099
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AP001525.6 (163458..164568) None
    genomic AY268429.1 AAP23196.1
    genomic CH471113.2 EAX01504.1
    genomic EF444993.1 ACA06012.1
    genomic L27080.1 AAA59566.1
    genomic U08353.1 AAB60376.1
    genomic Z25470.1 CAA80962.1
    mRNA BC069153.1 AAH69153.1
    mRNA BC069545.1 AAH69545.1
    mRNA BC095531.1 AAH95531.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P33032.3 GenPept UniProtKB/Swiss-Prot:P33032
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
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