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P32245

- MC4R_HUMAN

UniProt

P32245 - MC4R_HUMAN

Protein

Melanocortin receptor 4

Gene

MC4R

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 154 (01 Oct 2014)
      Sequence version 2 (25 Oct 2004)
      Previous versions | rss
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    Functioni

    Receptor specific to the heptapeptide core common to adrenocorticotropic hormone and alpha-, beta-, and gamma-MSH. Plays a central role in energy homeostasis and somatic growth. This receptor is mediated by G proteins that stimulate adenylate cyclase (cAMP).1 Publication

    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
    6. ubiquitin protein ligase binding Source: UniProtKB

    GO - Biological processi

    1. adenylate cyclase-modulating G-protein coupled receptor signaling pathway Source: ProtInc
    2. diet induced thermogenesis Source: Ensembl
    3. energy reserve metabolic process Source: Ensembl
    4. feeding behavior Source: ProtInc
    5. insulin secretion Source: Ensembl
    6. negative regulation of feeding behavior Source: Ensembl
    7. positive regulation of bone resorption Source: HGNC
    8. positive regulation of cAMP biosynthetic process Source: BHF-UCL
    9. regulation of grooming behavior Source: Ensembl
    10. response to insulin 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.

    Protein family/group databases

    TCDBi9.A.14.2.3. the g-protein-coupled receptor (gpcr) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Melanocortin receptor 4
    Short name:
    MC4-R
    Gene namesi
    Name:MC4R
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 18

    Organism-specific databases

    HGNCiHGNC:6932. MC4R.

    Subcellular locationi

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Obesity (OBESITY) [MIM:601665]: A condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat.8 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Disease mutation, Obesity

    Organism-specific databases

    MIMi601665. phenotype.
    Orphaneti71529. Obesity due to melanocortin 4 receptor deficiency.
    PharmGKBiPA30676.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 332332Melanocortin receptor 4PRO_0000069722Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi3 – 31N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi17 – 171N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi26 – 261N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi84 – 84Interchain
    Lipidationi318 – 3181S-palmitoyl cysteineSequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Lipoprotein, Palmitate

    Proteomic databases

    PaxDbiP32245.
    PRIDEiP32245.

    PTM databases

    PhosphoSiteiP32245.

    Expressioni

    Tissue specificityi

    Brain, placental, and gut tissues.

    Gene expression databases

    ArrayExpressiP32245.
    BgeeiP32245.
    CleanExiHS_MC4R.
    GenevestigatoriP32245.

    Organism-specific databases

    HPAiHPA016719.

    Interactioni

    Subunit structurei

    Interacts with ATRNL1 By similarity. Homodimer; disulfide-linked, also forms higher order oligomers. Interacts with MGRN1, but does not undergo MGRN1-mediated ubiquitination; this interaction competes with GNAS-binding and thus inhibits agonist-induced cAMP production. Interacts with MRAP and MRAP2; these associated factors increase ligand-sensitivity and generation of cAMP.By similarity3 Publications

    Protein-protein interaction databases

    BioGridi110330. 6 interactions.
    DIPiDIP-48791N.
    IntActiP32245. 3 interactions.
    STRINGi9606.ENSP00000299766.

    Structurei

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2IQPmodel-A29-321[»]
    2IQRmodel-A28-321[»]
    2IQSmodel-A28-321[»]
    2IQUmodel-A28-321[»]
    2IQVmodel-A40-321[»]
    2IQWmodel-A40-321[»]
    ProteinModelPortaliP32245.
    SMRiP32245. Positions 50-317.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 4343ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini70 – 8112CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini107 – 12317ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini146 – 16520CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini187 – 1915ExtracellularSequence Analysis
    Topological domaini216 – 24833CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini272 – 2809ExtracellularSequence Analysis
    Topological domaini305 – 33228CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei44 – 6926Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei82 – 10625Helical; Name=2Sequence AnalysisAdd
    BLAST
    Transmembranei124 – 14522Helical; Name=3Sequence AnalysisAdd
    BLAST
    Transmembranei166 – 18621Helical; Name=4Sequence AnalysisAdd
    BLAST
    Transmembranei192 – 21524Helical; Name=5Sequence AnalysisAdd
    BLAST
    Transmembranei249 – 27123Helical; Name=6Sequence AnalysisAdd
    BLAST
    Transmembranei281 – 30424Helical; 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

    eggNOGiNOG269550.
    HOGENOMiHOG000246927.
    HOVERGENiHBG108148.
    InParanoidiP32245.
    KOiK04202.
    OMAiTSLHFWN.
    OrthoDBiEOG7QK0CF.
    PhylomeDBiP32245.
    TreeFamiTF332646.

    Family and domain databases

    Gene3Di1.20.1070.10. 1 hit.
    InterProiIPR000276. GPCR_Rhodpsn.
    IPR017452. GPCR_Rhodpsn_7TM.
    IPR000155. Mcort_rcpt_4.
    IPR001908. Melancort_rcpt.
    IPR001671. Melcrt_ACTH_rcpt.
    [Graphical view]
    PfamiPF00001. 7tm_1. 1 hit.
    [Graphical view]
    PRINTSiPR00237. GPCRRHODOPSN.
    PR00534. MCRFAMILY.
    PR00535. MELNOCORTINR.
    PR01062. MELNOCORTN4R.
    PROSITEiPS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
    PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P32245-1 [UniParc]FASTAAdd to Basket

    « Hide

    MVNSTHRGMH TSLHLWNRSS YRLHSNASES LGKGYSDGGC YEQLFVSPEV    50
    FVTLGVISLL ENILVIVAIA KNKNLHSPMY FFICSLAVAD MLVSVSNGSE 100
    TIVITLLNST DTDAQSFTVN IDNVIDSVIC SSLLASICSL LSIAVDRYFT 150
    IFYALQYHNI MTVKRVGIII SCIWAACTVS GILFIIYSDS SAVIICLITM 200
    FFTMLALMAS LYVHMFLMAR LHIKRIAVLP GTGAIRQGAN MKGAITLTIL 250
    IGVFVVCWAP FFLHLIFYIS CPQNPYCVCF MSHFNLYLIL IMCNSIIDPL 300
    IYALRSQELR KTFKEIICCY PLGGLCDLSS RY 332
    Length:332
    Mass (Da):36,943
    Last modified:October 25, 2004 - v2
    Checksum:iE80010BAADBED2B4
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti169 – 1691I → S in AAB33341. (PubMed:7854347)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti11 – 111T → A in obesity; partial activity. 1 Publication
    VAR_038632
    Natural varianti30 – 301S → R in obesity. 1 Publication
    VAR_010704
    Natural varianti36 – 361S → Y in obesity; shows the same affinity as the wild-type but significant impairment of cAMP-induced activity in response to melanotan II compared with the wild-type receptor. 1 Publication
    VAR_038633
    Natural varianti37 – 371D → V in obesity. 1 Publication
    Corresponds to variant rs13447325 [ dbSNP | Ensembl ].
    VAR_010705
    Natural varianti50 – 501V → M in obesity. 1 Publication
    VAR_038634
    Natural varianti58 – 581S → C in obesity. 1 Publication
    VAR_038635
    Natural varianti62 – 621N → S in obesity; shows a partial cAMP response to alpha-MSH. 2 Publications
    VAR_038636
    Natural varianti78 – 781P → L in obesity. 1 Publication
    Corresponds to variant rs13447326 [ dbSNP | Ensembl ].
    VAR_010706
    Natural varianti88 – 925Missing in obesity; the mutant receptor is expressed well on the cell surface but is completely devoid of ligand binding and cAMP generation in response to agonist stimulation. 1 Publication
    VAR_038637
    Natural varianti97 – 971N → D in obesity; completely unable to generate cAMP in response to ligand; shows evidence of impaired cell surface expression. 2 Publications
    VAR_038638
    Natural varianti102 – 1021I → S in obesity; shows the same affinity as the wild-type but significant impairment of cAMP-induced activity in response to melanotan II compared with the wild-type receptor. 1 Publication
    VAR_038639
    Natural varianti102 – 1021I → T in obesity. 1 Publication
    VAR_038640
    Natural varianti103 – 1031V → I.6 Publications
    Corresponds to variant rs2229616 [ dbSNP | Ensembl ].
    VAR_010707
    Natural varianti106 – 1061L → P in obesity; completely unable to generate cAMP in response to ligand; shows evidence of impaired cell surface expression. 1 Publication
    VAR_038641
    Natural varianti112 – 1121T → M Polymorphism with no effect on MC4R signaling. 4 Publications
    Corresponds to variant rs13447329 [ dbSNP | Ensembl ].
    VAR_010708
    Natural varianti125 – 1251I → K in obesity; completely unable to generate cAMP in response to ligand; shows evidence of impaired cell surface expression. 2 Publications
    VAR_038642
    Natural varianti127 – 1271S → L in obesity; signaling properties in response to alpha-MSH, beta-MSH and gamma-1-MSH are impaired. 1 Publication
    Corresponds to variant rs13447331 [ dbSNP | Ensembl ].
    VAR_038643
    Natural varianti165 – 1651R → Q in obesity; shows a partial cAMP response to alpha-MSH. 3 Publications
    Corresponds to variant rs13447332 [ dbSNP | Ensembl ].
    VAR_038644
    Natural varianti165 – 1651R → W in obesity. 1 Publication
    Corresponds to variant rs13447332 [ dbSNP | Ensembl ].
    VAR_010709
    Natural varianti170 – 1701I → V in obesity. 1 Publication
    Corresponds to variant rs121913560 [ dbSNP | Ensembl ].
    VAR_038645
    Natural varianti175 – 1751A → T in obesity; shows a partial cAMP response to alpha-MSH. 3 Publications
    VAR_038646
    Natural varianti181 – 1811G → D in obesity; does not bind alpha-MSH. 1 Publication
    Corresponds to variant rs13447333 [ dbSNP | Ensembl ].
    VAR_038647
    Natural varianti219 – 2191A → V in obesity; shows significantly impairment of cAMP-induced activity in response to melanotan II compared with the wild-type receptor. 1 Publication
    VAR_038648
    Natural varianti226 – 2261I → T.1 Publication
    VAR_038649
    Natural varianti251 – 2511I → L.5 Publications
    Corresponds to variant rs52820871 [ dbSNP | Ensembl ].
    VAR_010710
    Natural varianti252 – 2521G → S in obesity. 1 Publication
    Corresponds to variant rs13447336 [ dbSNP | Ensembl ].
    VAR_010711
    Natural varianti253 – 2531V → I in obesity; shows a partial cAMP response to alpha-MSH. 1 Publication
    Corresponds to variant rs187152753 [ dbSNP | Ensembl ].
    VAR_038650
    Natural varianti271 – 2711C → R in obesity; completely unable to generate cAMP in response to ligand; shows impaired cell surface expression. 1 Publication
    VAR_038651
    Natural varianti271 – 2711C → Y in obesity; no activity. 2 Publications
    VAR_038652
    Natural varianti274 – 2741N → S in obesity. 1 Publication
    VAR_015357
    Natural varianti316 – 3161I → S in obesity; shows reduced cAMP response to alpha-MSH; retains normal affinity for the antagonist AGRP. 2 Publications
    VAR_038653
    Natural varianti317 – 3171I → T in obesity. 1 Publication
    Corresponds to variant rs13447337 [ dbSNP | Ensembl ].
    VAR_010712
    Natural varianti325 – 3251L → F in obesity; does not bind alpha-MSH. 1 Publication
    VAR_038654

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L08603 Genomic DNA. Translation: AAA35791.1.
    S77415 Genomic DNA. Translation: AAB33341.1.
    AY236539 Genomic DNA. Translation: AAO92061.1.
    AK314130 mRNA. Translation: BAG36820.1.
    CH471096 Genomic DNA. Translation: EAW63105.1.
    BC069172 mRNA. Translation: AAH69172.1.
    BC101802 mRNA. Translation: AAI01803.1.
    BC111992 mRNA. Translation: AAI11993.1.
    CCDSiCCDS11976.1.
    PIRiA57055.
    RefSeqiNP_005903.2. NM_005912.2.
    UniGeneiHs.532833.

    Genome annotation databases

    EnsembliENST00000299766; ENSP00000299766; ENSG00000166603.
    GeneIDi4160.
    KEGGihsa:4160.
    UCSCiuc002lie.1. human.

    Polymorphism databases

    DMDMi60392672.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Wikipedia

    Melanocortin receptor entry

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L08603 Genomic DNA. Translation: AAA35791.1 .
    S77415 Genomic DNA. Translation: AAB33341.1 .
    AY236539 Genomic DNA. Translation: AAO92061.1 .
    AK314130 mRNA. Translation: BAG36820.1 .
    CH471096 Genomic DNA. Translation: EAW63105.1 .
    BC069172 mRNA. Translation: AAH69172.1 .
    BC101802 mRNA. Translation: AAI01803.1 .
    BC111992 mRNA. Translation: AAI11993.1 .
    CCDSi CCDS11976.1.
    PIRi A57055.
    RefSeqi NP_005903.2. NM_005912.2.
    UniGenei Hs.532833.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2IQP model - A 29-321 [» ]
    2IQR model - A 28-321 [» ]
    2IQS model - A 28-321 [» ]
    2IQU model - A 28-321 [» ]
    2IQV model - A 40-321 [» ]
    2IQW model - A 40-321 [» ]
    ProteinModelPortali P32245.
    SMRi P32245. Positions 50-317.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110330. 6 interactions.
    DIPi DIP-48791N.
    IntActi P32245. 3 interactions.
    STRINGi 9606.ENSP00000299766.

    Chemistry

    BindingDBi P32245.
    ChEMBLi CHEMBL259.
    GuidetoPHARMACOLOGYi 285.

    Protein family/group databases

    TCDBi 9.A.14.2.3. the g-protein-coupled receptor (gpcr) family.
    GPCRDBi Search...

    PTM databases

    PhosphoSitei P32245.

    Polymorphism databases

    DMDMi 60392672.

    Proteomic databases

    PaxDbi P32245.
    PRIDEi P32245.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000299766 ; ENSP00000299766 ; ENSG00000166603 .
    GeneIDi 4160.
    KEGGi hsa:4160.
    UCSCi uc002lie.1. human.

    Organism-specific databases

    CTDi 4160.
    GeneCardsi GC18M058011.
    HGNCi HGNC:6932. MC4R.
    HPAi HPA016719.
    MIMi 155541. gene.
    601665. phenotype.
    neXtProti NX_P32245.
    Orphaneti 71529. Obesity due to melanocortin 4 receptor deficiency.
    PharmGKBi PA30676.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG269550.
    HOGENOMi HOG000246927.
    HOVERGENi HBG108148.
    InParanoidi P32245.
    KOi K04202.
    OMAi TSLHFWN.
    OrthoDBi EOG7QK0CF.
    PhylomeDBi P32245.
    TreeFami TF332646.

    Enzyme and pathway databases

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

    Miscellaneous databases

    GeneWikii Melanocortin_4_receptor.
    GenomeRNAii 4160.
    NextBioi 16390.
    PROi P32245.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P32245.
    Bgeei P32245.
    CleanExi HS_MC4R.
    Genevestigatori P32245.

    Family and domain databases

    Gene3Di 1.20.1070.10. 1 hit.
    InterProi IPR000276. GPCR_Rhodpsn.
    IPR017452. GPCR_Rhodpsn_7TM.
    IPR000155. Mcort_rcpt_4.
    IPR001908. Melancort_rcpt.
    IPR001671. Melcrt_ACTH_rcpt.
    [Graphical view ]
    Pfami PF00001. 7tm_1. 1 hit.
    [Graphical view ]
    PRINTSi PR00237. GPCRRHODOPSN.
    PR00534. MCRFAMILY.
    PR00535. MELNOCORTINR.
    PR01062. MELNOCORTN4R.
    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, expression, and gene localization of a fourth melanocortin receptor."
      Gantz I., Miwa H., Konda Y., Shimoto Y., Tashiro T., Waston S.J., Delvalle J.
      J. Biol. Chem. 268:15174-15179(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ILE-103.
    2. "Localization of the melanocortin-4 receptor (MC4-R) in neuroendocrine and autonomic control circuits in the brain."
      Mountjoy K.G., Mortrud M.T., Low M.J., Simerly R.B., Cone R.D.
      Mol. Endocrinol. 8:1298-1308(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ILE-103.
    3. "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].
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Subthalamic nucleus.
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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].
      Tissue: Brain.
    7. Cited for: INTERACTION WITH MRAP AND MRAP2.
    8. "Mahogunin ring finger-1 (MGRN1) E3 ubiquitin ligase inhibits signaling from melanocortin receptor by competition with Galphas."
      Perez-Oliva A.B., Olivares C., Jimenez-Cervantes C., Garcia-Borron J.C.
      J. Biol. Chem. 284:31714-31725(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH MGRN1.
    9. "The melanocortin 4 receptor: oligomer formation, interaction sites and functional significance."
      Chapman K.L., Findlay J.B.
      Biochim. Biophys. Acta 1828:535-542(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERCHAIN DISULFIDE BOND, SUBUNIT.
    10. "Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans."
      Hinney A., Schmidt A., Nottebom K., Heibult O., Becker I., Ziegler A., Gerber G., Sina M., Gorg T., Mayer H., Siegfried W., Fichter M., Remschmidt H., Hebebrand J.
      J. Clin. Endocrinol. Metab. 84:1483-1486(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OBESITY ARG-30; VAL-37; LEU-78; TRP-165; SER-252 AND THR-317, VARIANTS MET-112 AND LEU-251.
    11. "A novel melanocortin 4 receptor (MC4R) gene mutation associated with morbid obesity."
      Mergen M., Mergen H., Ozata M., Oner R., Oner C.
      J. Clin. Endocrinol. Metab. 86:3448-3448(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT OBESITY SER-274.
    12. "Mutational analysis of melanocortin-4 receptor, agouti-related protein, and alpha-melanocyte-stimulating hormone genes in severely obese children."
      Dubern B., Clement K., Pelloux V., Froguel P., Girardet J.-P., Guy-Grand B., Tounian P.
      J. Pediatr. 139:204-209(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OBESITY MET-50; CYS-58; SER-102 AND VAL-170, VARIANTS ILE-103 AND LEU-251.
    13. "Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms."
      Yeo G.S.H., Lank E.J., Farooqi I.S., Keogh J., Challis B.G., O'Rahilly S.
      Hum. Mol. Genet. 12:561-574(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OBESITY SER-62; ASP-97; PRO-106; LYS-125; GLN-165; THR-175; ILE-253; TYR-271 AND SER-316, CHARACTERIZATION OF VARIANTS OBESITY SER-62; ASP-97; PRO-106; LYS-125; GLN-165; THR-175; ILE-253; TYR-271 AND SER-316.
    14. "Deletion of codons 88-92 of the melanocortin-4 receptor gene: a novel deleterious mutation in an obese female."
      Donohoue P.A., Tao Y.-X., Collins M., Yeo G.S.H., O'Rahilly S., Segaloff D.L.
      J. Clin. Endocrinol. Metab. 88:5841-5845(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT OBESITY 88-VAL--LEU-92 DEL, CHARACTERIZATION OF VARIANT OBESITY 88-VAL--LEU-92 DEL.
    15. "Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene."
      Farooqi I.S., Keogh J.M., Yeo G.S.H., Lank E.J., Cheetham T., O'Rahilly S.
      N. Engl. J. Med. 348:1085-1095(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OBESITY ALA-11; SER-62; ASP-97; LYS-125; GLN-165; THR-175; TYR-271; ARG-271 AND SER-316, VARIANTS ILE-103; MET-112 AND LEU-251, CHARACTERIZATION OF VARIANTS OBESITY ALA-11; SER-62; ASP-97; LYS-125; GLN-165; THR-175; TYR-271 AND SER-316, CHARACTERIZATION OF VARIANTS ILE-103; MET-112 AND LEU-251, FUNCTION.
    16. "Identification and characterization of melanocortin-4 receptor gene mutations in morbidly obese Finnish children and adults."
      Valli-Jaakola K., Lipsanen-Nyman M., Oksanen L., Hollenberg A.N., Kontula K., Bjoerbaek C., Schalin-Jaentti C.
      J. Clin. Endocrinol. Metab. 89:940-945(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT OBESITY LEU-127, VARIANTS ILE-103; MET-112; THR-226 AND LEU-251, CHARACTERIZATION OF VARIANT OBESITY LEU-127, CHARACTERIZATION OF VARIANTS MET-112 AND THR-226.
    17. "Prevalence of mutations and functional analyses of melanocortin 4 receptor variants identified among 750 men with juvenile-onset obesity."
      Larsen L.H., Echwald S.M., Soerensen T.I.A., Andersen T., Wulff B.S., Pedersen O.
      J. Clin. Endocrinol. Metab. 90:219-224(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OBESITY TYR-36; THR-102; GLN-165; THR-175; ASP-181; VAL-219 AND PHE-325, VARIANTS ILE-103; MET-112 AND LEU-251, CHARACTERIZATION OF VARIANTS OBESITY TYR-36; THR-102; GLN-165; ASP-181; VAL-219 AND PHE-325.

    Entry informationi

    Entry nameiMC4R_HUMAN
    AccessioniPrimary (citable) accession number: P32245
    Secondary accession number(s): B2RAC3, Q16317, Q3MIJ6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1993
    Last sequence update: October 25, 2004
    Last modified: October 1, 2014
    This is version 154 of the entry and version 2 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. 7-transmembrane G-linked receptors
      List of 7-transmembrane G-linked receptor entries
    2. Human chromosome 18
      Human chromosome 18: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3