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P41968

- MC3R_HUMAN

UniProt

P41968 - MC3R_HUMAN

Protein

Melanocortin receptor 3

Gene

MC3R

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 133 (01 Oct 2014)
      Sequence version 3 (11 Jul 2012)
      Previous versions | rss
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    Functioni

    Receptor for MSH (alpha, beta and gamma) and ACTH. This receptor is mediated by G proteins which activate adenylate cyclase.

    GO - Molecular functioni

    1. melanocortin receptor activity Source: ProtInc
    2. melanocyte-stimulating hormone receptor activity Source: BHF-UCL
    3. neuropeptide binding Source: UniProtKB
    4. peptide hormone binding Source: Ensembl
    5. protein binding Source: BHF-UCL

    GO - Biological processi

    1. adenylate cyclase-modulating G-protein coupled receptor signaling pathway Source: Ensembl
    2. G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger Source: ProtInc
    3. homoiothermy Source: Ensembl
    4. phospholipase C-activating G-protein coupled receptor signaling pathway Source: ProtInc
    5. positive regulation of cAMP biosynthetic process Source: BHF-UCL
    6. regulation of blood pressure Source: Ensembl
    7. regulation of heart rate Source: Ensembl
    8. sodium ion homeostasis Source: Ensembl

    Keywords - Molecular functioni

    G-protein coupled receptor, Receptor, Transducer

    Enzyme and pathway databases

    ReactomeiREACT_14819. Peptide ligand-binding receptors.
    REACT_19327. G alpha (s) signalling events.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Melanocortin receptor 3
    Short name:
    MC3-R
    Gene namesi
    Name:MC3R
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 20

    Organism-specific databases

    HGNCiHGNC:6931. MC3R.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of plasma membrane Source: ProtInc
    2. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Organism-specific databases

    MIMi602025. phenotype.
    Orphaneti217031. Obesity due to MC3R deficiency.
    PharmGKBiPA30675.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 323323Melanocortin receptor 3PRO_0000069718Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi2 – 21N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi16 – 161N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi28 – 281N-linked (GlcNAc...)Sequence Analysis
    Lipidationi315 – 3151S-palmitoyl cysteineSequence Analysis

    Keywords - PTMi

    Glycoprotein, Lipoprotein, Palmitate

    Proteomic databases

    PaxDbiP41968.
    PRIDEiP41968.

    Expressioni

    Tissue specificityi

    Brain, placental, and gut tissues.

    Gene expression databases

    BgeeiP41968.
    CleanExiHS_MC3R.
    GenevestigatoriP41968.

    Interactioni

    Protein-protein interaction databases

    BioGridi110329. 1 interaction.
    DIPiDIP-48790N.
    IntActiP41968. 2 interactions.
    STRINGi9606.ENSP00000243911.

    Structurei

    3D structure databases

    ProteinModelPortaliP41968.
    SMRiP41968. Positions 44-314.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 3737ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini64 – 7512CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini101 – 11818ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini141 – 16020CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini182 – 1865ExtracellularSequence Analysis
    Topological domaini211 – 24535CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini269 – 2779ExtracellularSequence Analysis
    Topological domaini302 – 32322CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei38 – 6326Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei76 – 10025Helical; Name=2Sequence AnalysisAdd
    BLAST
    Transmembranei119 – 14022Helical; Name=3Sequence AnalysisAdd
    BLAST
    Transmembranei161 – 18121Helical; Name=4Sequence AnalysisAdd
    BLAST
    Transmembranei187 – 21024Helical; Name=5Sequence AnalysisAdd
    BLAST
    Transmembranei246 – 26823Helical; Name=6Sequence AnalysisAdd
    BLAST
    Transmembranei278 – 30124Helical; Name=7Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the G-protein coupled receptor 1 family.PROSITE-ProRule annotation

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG325361.
    HOGENOMiHOG000246927.
    HOVERGENiHBG108148.
    InParanoidiP41968.
    KOiK04201.
    OMAiVHMFLFA.
    OrthoDBiEOG7QK0CF.
    PhylomeDBiP41968.
    TreeFamiTF332646.

    Family and domain databases

    Gene3Di1.20.1070.10. 1 hit.
    InterProiIPR000276. GPCR_Rhodpsn.
    IPR017452. GPCR_Rhodpsn_7TM.
    IPR002122. Mcort_3_rcpt.
    IPR001908. Melancort_rcpt.
    IPR001671. Melcrt_ACTH_rcpt.
    [Graphical view]
    PANTHERiPTHR22750:SF4. PTHR22750:SF4. 1 hit.
    PfamiPF00001. 7tm_1. 1 hit.
    [Graphical view]
    PRINTSiPR00237. GPCRRHODOPSN.
    PR00534. MCRFAMILY.
    PR00535. MELNOCORTINR.
    PR01061. MELNOCORTN3R.
    PROSITEiPS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
    PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P41968-1 [UniParc]FASTAAdd to Basket

    « Hide

    MNASCCLPSV QPTLPNGSEH LQAPFFSNQS SSAFCEQVFI KPEVFLSLGI    50
    VSLLENILVI LAVVRNGNLH SPMYFFLCSL AVADMLVSVS NALETIMIAI 100
    VHSDYLTFED QFIQHMDNIF DSMICISLVA SICNLLAIAV DRYVTIFYAL 150
    RYHSIMTVRK ALTLIVAIWV CCGVCGVVFI VYSESKMVIV CLITMFFAMM 200
    LLMGTLYVHM FLFARLHVKR IAALPPADGV APQQHSCMKG AVTITILLGV 250
    FIFCWAPFFL HLVLIITCPT NPYCICYTAH FNTYLVLIMC NSVIDPLIYA 300
    FRSLELRNTF REILCGCNGM NLG 323
    Length:323
    Mass (Da):36,043
    Last modified:July 11, 2012 - v3
    Checksum:i98B016FC80802A97
    GO

    Sequence cautioni

    The sequence AAC13541.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
    The sequence AAH69105.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
    The sequence AAH69599.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
    The sequence AAH96702.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
    The sequence AAH96737.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
    The sequence AAH98169.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
    The sequence AAH98351.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
    The sequence AAO72726.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Polymorphismi

    Genetic variations in MC3R define the body mass index quantitative trait locus 9 (BMIQ9) [MIMi:602025]. Variance in body mass index is a susceptibility factor for obesity.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti44 – 441V → I Have ligand binding and signaling properties similar to wild-type. 1 Publication
    Corresponds to variant rs3827103 [ dbSNP | Ensembl ].
    VAR_020070
    Natural varianti146 – 1461I → N Associated with susceptibility to obesity; completely lacks signaling in response to agonist stimulation; coexpression of the wild-type and the mutant receptor shows that it does not exert dominant-negative activity on wild-type. 1 Publication
    VAR_055000
    Natural varianti298 – 2981I → S Associated with susceptibility to obesity; in vitro expression studies demonstrate that the mutation causes complete loss of function; transfected cells show diffuse cytoplasmic staining indicating intracellular retention of the receptor. 1 Publication
    VAR_055001

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L06155 Genomic DNA. Translation: AAC13541.1. Different initiation.
    AY227893 mRNA. Translation: AAO72726.1. Different initiation.
    AL139824 Genomic DNA. Translation: CAC15480.2.
    BC069105 mRNA. Translation: AAH69105.1. Different initiation.
    BC069599 mRNA. Translation: AAH69599.1. Different initiation.
    BC096702 mRNA. Translation: AAH96702.1. Different initiation.
    BC096737 mRNA. Translation: AAH96737.1. Different initiation.
    BC098169 mRNA. Translation: AAH98169.1. Different initiation.
    BC098351 mRNA. Translation: AAH98351.1. Different initiation.
    CCDSiCCDS13449.2.
    PIRiB46647.
    RefSeqiNP_063941.3. NM_019888.3.
    UniGeneiHs.248018.

    Genome annotation databases

    EnsembliENST00000243911; ENSP00000243911; ENSG00000124089.
    GeneIDi4159.
    KEGGihsa:4159.
    UCSCiuc002xxb.2. human.

    Polymorphism databases

    DMDMi395398606.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L06155 Genomic DNA. Translation: AAC13541.1 . Different initiation.
    AY227893 mRNA. Translation: AAO72726.1 . Different initiation.
    AL139824 Genomic DNA. Translation: CAC15480.2 .
    BC069105 mRNA. Translation: AAH69105.1 . Different initiation.
    BC069599 mRNA. Translation: AAH69599.1 . Different initiation.
    BC096702 mRNA. Translation: AAH96702.1 . Different initiation.
    BC096737 mRNA. Translation: AAH96737.1 . Different initiation.
    BC098169 mRNA. Translation: AAH98169.1 . Different initiation.
    BC098351 mRNA. Translation: AAH98351.1 . Different initiation.
    CCDSi CCDS13449.2.
    PIRi B46647.
    RefSeqi NP_063941.3. NM_019888.3.
    UniGenei Hs.248018.

    3D structure databases

    ProteinModelPortali P41968.
    SMRi P41968. Positions 44-314.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110329. 1 interaction.
    DIPi DIP-48790N.
    IntActi P41968. 2 interactions.
    STRINGi 9606.ENSP00000243911.

    Chemistry

    BindingDBi P41968.
    ChEMBLi CHEMBL2111323.
    GuidetoPHARMACOLOGYi 284.

    Protein family/group databases

    GPCRDBi Search...

    Polymorphism databases

    DMDMi 395398606.

    Proteomic databases

    PaxDbi P41968.
    PRIDEi P41968.

    Protocols and materials databases

    DNASUi 4159.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000243911 ; ENSP00000243911 ; ENSG00000124089 .
    GeneIDi 4159.
    KEGGi hsa:4159.
    UCSCi uc002xxb.2. human.

    Organism-specific databases

    CTDi 4159.
    GeneCardsi GC20P054823.
    H-InvDB HIX0040556.
    HGNCi HGNC:6931. MC3R.
    MIMi 155540. gene.
    602025. phenotype.
    neXtProti NX_P41968.
    Orphaneti 217031. Obesity due to MC3R deficiency.
    PharmGKBi PA30675.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG325361.
    HOGENOMi HOG000246927.
    HOVERGENi HBG108148.
    InParanoidi P41968.
    KOi K04201.
    OMAi VHMFLFA.
    OrthoDBi EOG7QK0CF.
    PhylomeDBi P41968.
    TreeFami TF332646.

    Enzyme and pathway databases

    Reactomei REACT_14819. Peptide ligand-binding receptors.
    REACT_19327. G alpha (s) signalling events.

    Miscellaneous databases

    GeneWikii Melanocortin_3_receptor.
    GenomeRNAii 4159.
    NextBioi 16386.
    PROi P41968.
    SOURCEi Search...

    Gene expression databases

    Bgeei P41968.
    CleanExi HS_MC3R.
    Genevestigatori P41968.

    Family and domain databases

    Gene3Di 1.20.1070.10. 1 hit.
    InterProi IPR000276. GPCR_Rhodpsn.
    IPR017452. GPCR_Rhodpsn_7TM.
    IPR002122. Mcort_3_rcpt.
    IPR001908. Melancort_rcpt.
    IPR001671. Melcrt_ACTH_rcpt.
    [Graphical view ]
    PANTHERi PTHR22750:SF4. PTHR22750:SF4. 1 hit.
    Pfami PF00001. 7tm_1. 1 hit.
    [Graphical view ]
    PRINTSi PR00237. GPCRRHODOPSN.
    PR00534. MCRFAMILY.
    PR00535. MELNOCORTINR.
    PR01061. MELNOCORTN3R.
    PROSITEi PS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
    PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning of a novel melanocortin receptor."
      Gantz I., Konda Y., Tashiro T., Shimoto Y., Miwa H., Munzert G., Watson S.J., Delvalle J., Yamada T.
      J. Biol. Chem. 268:8246-8250(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ILE-44.
    2. "cDNA clones of human proteins involved in signal transduction sequenced by the Guthrie cDNA resource center (www.cdna.org)."
      Kopatz S.A., Aronstam R.S., Sharma S.V.
      Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    3. "The DNA sequence and comparative analysis of human chromosome 20."
      Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
      , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
      Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    5. "Identification of the translation start site of the human melanocortin 3 receptor."
      Tarnow P., Rediger A., Schulz A., Gruters A., Biebermann H.
      Obes. Facts 5:45-51(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: TRANSLATIONAL START SITE.
    6. "A novel melanocortin 3 receptor gene (MC3R) mutation associated with severe obesity."
      Lee Y.-S., Poh L.K.-S., Loke K.-Y.
      J. Clin. Endocrinol. Metab. 87:1423-1426(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ASN-146, ASSOCIATION WITH SUSCEPTIBILITY TO OBESITY.
    7. "Functional characterization of melanocortin-3 receptor variants identify a loss-of-function mutation involving an amino acid critical for G protein-coupled receptor activation."
      Tao Y.-X., Segaloff D.L.
      J. Clin. Endocrinol. Metab. 89:3936-3942(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANTS ILE-44 AND ASN-146.
    8. Cited for: VARIANT SER-298, CHARACTERIZATION OF VARIANT SER-298, ASSOCIATION WITH SUSCEPTIBILITY TO OBESITY.

    Entry informationi

    Entry nameiMC3R_HUMAN
    AccessioniPrimary (citable) accession number: P41968
    Secondary accession number(s): Q4KN27, Q9H517
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1995
    Last sequence update: July 11, 2012
    Last modified: October 1, 2014
    This is version 133 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. 7-transmembrane G-linked receptors
      List of 7-transmembrane G-linked receptor entries
    2. Human chromosome 20
      Human chromosome 20: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3