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Q01726

- MSHR_HUMAN

UniProt

Q01726 - MSHR_HUMAN

Protein

Melanocyte-stimulating hormone receptor

Gene

MC1R

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 157 (01 Oct 2014)
      Sequence version 2 (01 Dec 2000)
      Previous versions | rss
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    Functioni

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

    GO - Molecular functioni

    1. G-protein coupled peptide receptor activity Source: BHF-UCL
    2. melanocortin receptor activity Source: ProtInc
    3. melanocyte-stimulating hormone receptor activity Source: BHF-UCL
    4. protein binding Source: BHF-UCL
    5. ubiquitin protein ligase binding Source: UniProtKB

    GO - Biological processi

    1. G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger Source: ProtInc
    2. intracellular signal transduction Source: BHF-UCL
    3. melanin biosynthetic process Source: Ensembl
    4. multicellular organismal development Source: ProtInc
    5. negative regulation of tumor necrosis factor production Source: BHF-UCL
    6. pigmentation Source: BHF-UCL
    7. positive regulation of cAMP biosynthetic process Source: BHF-UCL
    8. positive regulation of protein kinase A signaling Source: BHF-UCL
    9. positive regulation of protein kinase B signaling Source: BHF-UCL
    10. positive regulation of protein kinase C signaling Source: BHF-UCL
    11. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    12. sensory perception of pain Source: Ensembl
    13. UV-damage excision repair Source: BHF-UCL
    14. UV protection Source: ProtInc

    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:
    Melanocyte-stimulating hormone receptor
    Short name:
    MSH-R
    Alternative name(s):
    Melanocortin receptor 1
    Short name:
    MC1-R
    Gene namesi
    Name:MC1R
    Synonyms:MSHR
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:6929. MC1R.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of plasma membrane Source: ProtInc
    2. plasma membrane Source: BHF-UCL

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Melanoma, cutaneous malignant 5 (CMM5) [MIM:613099]: A malignant neoplasm of melanocytes, arising de novo or from a pre-existing benign nevus, which occurs most often in the skin but also may involve other sites.2 Publications
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti38 – 381V → M in CMM5; moderate decrease in coupling to the cAMP pathway; reduced cell surface expression as a consequence of retention in the endoplasmic reticulum. 1 Publication
    VAR_059018
    Natural varianti41 – 411S → F in CMM5; complete absence of functional coupling to the cAMP pathway; reduced cell surface expression as a consequence of retention in the endoplasmic reticulum. 1 Publication
    VAR_059019
    Natural varianti51 – 511V → A in CMM5; moderate decrease in coupling to the cAMP pathway; reduced cell surface expression as a consequence of retention in the endoplasmic reticulum. 1 Publication
    VAR_059020
    Natural varianti128 – 1281M → T in CMM5; complete absence of functional coupling to the cAMP pathway; trafficked to the cell surface but unable to bind agonist efficiently. 1 Publication
    VAR_059022
    Natural varianti289 – 2891C → R in CMM5; complete absence of functional coupling to the cAMP pathway; trafficked to the cell surface but unable to bind agonist efficiently. 1 Publication
    VAR_059025

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi65 – 651K → R: Only minor effect on internalization rate and protein half-life; when associated with R-226; R-238 and R-310. 1 Publication
    Mutagenesisi226 – 2261K → R: Only minor effect on internalization rate and protein half-life; when associated with R-65; R-238 and R-310. 1 Publication
    Mutagenesisi238 – 2381K → R: Only minor effect on internalization rate and protein half-life; when associated with R-65; R-226 and R-310. 1 Publication
    Mutagenesisi310 – 3101K → R: Only minor effect on internalization rate and protein half-life; when associated with R-65; R-226 and R-238. 1 Publication

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi266300. phenotype.
    613098. phenotype.
    613099. phenotype.
    Orphaneti618. Familial melanoma.
    626. Large congenital melanocytic nevus.
    79432. Oculocutaneous albinism type 2.
    PharmGKBiPA30673.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 317317Melanocyte-stimulating hormone receptorPRO_0000069818Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi29 – 291N-linked (GlcNAc...)Sequence Analysis
    Lipidationi315 – 3151S-palmitoyl cysteineSequence Analysis

    Keywords - PTMi

    Glycoprotein, Lipoprotein, Palmitate

    Proteomic databases

    MaxQBiQ01726.
    PaxDbiQ01726.
    PRIDEiQ01726.

    PTM databases

    PhosphoSiteiQ01726.

    Expressioni

    Tissue specificityi

    Melanocytes and corticoadrenal tissue.

    Gene expression databases

    BgeeiQ01726.
    GenevestigatoriQ01726.

    Interactioni

    Subunit structurei

    Interacts with MGRN1, but does not undergo MGRN1-mediated ubiquitination; this interaction competes with GNAS-binding and thus inhibits agonist-induced cAMP production.1 Publication

    Protein-protein interaction databases

    BioGridi110327. 10 interactions.
    DIPiDIP-48789N.
    IntActiQ01726. 2 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliQ01726.
    SMRiQ01726. Positions 46-313.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 3737ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini64 – 729CytoplasmicSequence Analysis
    Topological domaini94 – 11825ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini141 – 16323CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini184 – 1918ExtracellularSequence Analysis
    Topological domaini212 – 24029CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini267 – 27913ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini301 – 31717CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei38 – 6326Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei73 – 9321Helical; Name=2Sequence AnalysisAdd
    BLAST
    Transmembranei119 – 14022Helical; Name=3Sequence AnalysisAdd
    BLAST
    Transmembranei164 – 18320Helical; Name=4Sequence AnalysisAdd
    BLAST
    Transmembranei192 – 21120Helical; Name=5Sequence AnalysisAdd
    BLAST
    Transmembranei241 – 26626Helical; Name=6Sequence AnalysisAdd
    BLAST
    Transmembranei280 – 30021Helical; 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

    eggNOGiCOG5023.
    HOVERGENiHBG108148.
    InParanoidiQ01726.
    KOiK04199.
    TreeFamiTF332646.

    Family and domain databases

    Gene3Di1.20.1070.10. 1 hit.
    InterProiIPR000276. GPCR_Rhodpsn.
    IPR017452. GPCR_Rhodpsn_7TM.
    IPR001671. Melcrt_ACTH_rcpt.
    IPR000761. MSH_rcpt.
    [Graphical view]
    PANTHERiPTHR22750:SF2. PTHR22750:SF2. 1 hit.
    PfamiPF00001. 7tm_1. 1 hit.
    [Graphical view]
    PRINTSiPR00237. GPCRRHODOPSN.
    PR00534. MCRFAMILY.
    PR00536. MELNOCYTESHR.
    PROSITEiPS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
    PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q01726-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAVQGSQRRL LGSLNSTPTA IPQLGLAANQ TGARCLEVSI SDGLFLSLGL    50
    VSLVENALVV ATIAKNRNLH SPMYCFICCL ALSDLLVSGS NVLETAVILL 100
    LEAGALVARA AVLQQLDNVI DVITCSSMLS SLCFLGAIAV DRYISIFYAL 150
    RYHSIVTLPR ARRAVAAIWV ASVVFSTLFI AYYDHVAVLL CLVVFFLAML 200
    VLMAVLYVHM LARACQHAQG IARLHKRQRP VHQGFGLKGA VTLTILLGIF 250
    FLCWGPFFLH LTLIVLCPEH PTCGCIFKNF NLFLALIICN AIIDPLIYAF 300
    HSQELRRTLK EVLTCSW 317
    Length:317
    Mass (Da):34,706
    Last modified:December 1, 2000 - v2
    Checksum:iCB67405A562C29B2
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti90 – 901S → T(PubMed:1325670)Curated
    Sequence conflicti90 – 901S → T(PubMed:8463333)Curated
    Sequence conflicti164 – 1641A → R(PubMed:1516719)Curated
    Sequence conflicti222 – 2221A → T in AAQ62976. 1 PublicationCurated

    Polymorphismi

    Genetic variants in MC1R define the skin/hair/eye pigmentation variation locus 2 (SHEP2) [MIMi:266300]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator, with type I skin being the most lightly pigmented and type IV the most dark pigmented. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair. Partial loss-of-function mutations are associated with fair skin, poor tanning and increased skin cancer risk.
    MC1R variants associated with red hair and fair skin, determine female-specific increased analgesia from kappa-opioid receptor agonist [MIMi:613098].

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti38 – 381V → M in CMM5; moderate decrease in coupling to the cAMP pathway; reduced cell surface expression as a consequence of retention in the endoplasmic reticulum. 1 Publication
    VAR_059018
    Natural varianti40 – 401I → T Associated with fair hair and light skin; partial loss-of-function. 1 Publication
    VAR_013611
    Natural varianti41 – 411S → F in CMM5; complete absence of functional coupling to the cAMP pathway; reduced cell surface expression as a consequence of retention in the endoplasmic reticulum. 1 Publication
    VAR_059019
    Natural varianti51 – 511V → A in CMM5; moderate decrease in coupling to the cAMP pathway; reduced cell surface expression as a consequence of retention in the endoplasmic reticulum. 1 Publication
    VAR_059020
    Natural varianti60 – 601V → L Associated with a risk for developing melanoma; unable to stimulate cAMP production as strongly as the wild type receptor in response to alpha-melanocyte-stimulating hormone stimulation. 4 Publications
    Corresponds to variant rs1805005 [ dbSNP | Ensembl ].
    VAR_013612
    Natural varianti67 – 671R → Q Shows a moderate and not significant decrease of cAMP production to NDP-MSH stimulation; shows a decreased responses to low concentrations of NDP-MSH stimulation. 2 Publications
    Corresponds to variant rs34090186 [ dbSNP | Ensembl ].
    VAR_009522
    Natural varianti84 – 841D → E May be associated with a risk for developing melanoma. 3 Publications
    Corresponds to variant rs1805006 [ dbSNP | Ensembl ].
    VAR_003507
    Natural varianti89 – 891G → R.
    Corresponds to variant rs34540312 [ dbSNP | Ensembl ].
    VAR_042654
    Natural varianti92 – 921V → M Associated with a risk for developing melanoma; predominantly found in type I skin; shows a moderate and not significant decreased of cAMP production to NDP-MSH stimulation. 5 Publications
    Corresponds to variant rs2228479 [ dbSNP | Ensembl ].
    VAR_003508
    Natural varianti93 – 931L → R Loss-of-function mutation abolishing agonist binding. 1 Publication
    VAR_059021
    Natural varianti95 – 951T → M.
    Corresponds to variant rs34158934 [ dbSNP | Ensembl ].
    VAR_042655
    Natural varianti104 – 1041G → S.
    Corresponds to variant rs2229617 [ dbSNP | Ensembl ].
    VAR_042656
    Natural varianti120 – 1201I → T Shows a moderate and not significant decrease of cAMP production to NDP-MSH stimulation; shows decreased responses to low concentrations of NDP-MSH stimulation. 1 Publication
    Corresponds to variant rs33932559 [ dbSNP | Ensembl ].
    VAR_042657
    Natural varianti122 – 1221V → M Associated with fair hair and light skin; partial loss-of-function. 1 Publication
    VAR_013613
    Natural varianti128 – 1281M → T in CMM5; complete absence of functional coupling to the cAMP pathway; trafficked to the cell surface but unable to bind agonist efficiently. 1 Publication
    VAR_059022
    Natural varianti142 – 1421R → H.1 Publication
    Corresponds to variant rs11547464 [ dbSNP | Ensembl ].
    VAR_059023
    Natural varianti147 – 1471Missing Associated with UV induced susceptibility to skin damage; unresponsive to NDP-MSH stimulation. 1 Publication
    VAR_042658
    Natural varianti151 – 1511R → C Associated with red hair and light skin of type I; binds to alpha-MSH but cannot be stimulated to produce cAMP. 7 Publications
    Corresponds to variant rs1805007 [ dbSNP | Ensembl ].
    VAR_008522
    Natural varianti155 – 1551I → T Associated with a risk for developing melanoma. 3 Publications
    Corresponds to variant rs1110400 [ dbSNP | Ensembl ].
    VAR_013614
    Natural varianti156 – 1561V → L.1 Publication
    Corresponds to variant rs3212365 [ dbSNP | Ensembl ].
    VAR_013615
    Natural varianti157 – 1571T → I Associated with UV induced susceptibility to skin damage; shows a dramatically decreased cAMP production to NDP-MSH stimulation. 1 Publication
    VAR_042659
    Natural varianti159 – 1591P → T Associated with UV induced susceptibility to skin damage; shows a strong decreased cAMP production to NDP-MSH stimulation. 1 Publication
    VAR_042660
    Natural varianti160 – 1601R → W Associated with a risk for developing melanoma; unable to stimulate cAMP production as strongly as the wild type receptor in response to alpha-melanocyte-stimulating hormone stimulation. 4 Publications
    Corresponds to variant rs1805008 [ dbSNP | Ensembl ].
    VAR_008523
    Natural varianti162 – 1621R → P.1 Publication
    VAR_013632
    Natural varianti163 – 1631R → Q Associated with a risk for developing melanoma; shows a moderate and not significant decrease of cAMP production to NDP-MSH stimulation; shows a not significant decrease in cAMP production at any concentrations of NDP-MSH stimulation. 4 Publications
    Corresponds to variant rs885479 [ dbSNP | Ensembl ].
    VAR_009523
    Natural varianti166 – 1661A → G Shows a moderate and not significant decrease of cAMP production to NDP-MSH stimulation; shows a not significant decrease in cAMP production at any concentrations of NDP-MSH stimulation. 1 Publication
    Corresponds to variant rs35040147 [ dbSNP | Ensembl ].
    VAR_042661
    Natural varianti171 – 1711A → S.
    Corresponds to variant rs35784916 [ dbSNP | Ensembl ].
    VAR_042662
    Natural varianti192 – 1921L → M Associated with a risk for developing melanoma; shows a moderate and not significant decrease of cAMP production to NDP-MSH stimulation; shows a significant decrease of cAMP production when low concentrations of NDP-MSH is administered. 2 Publications
    VAR_042663
    Natural varianti196 – 1961F → L.1 Publication
    Corresponds to variant rs3212366 [ dbSNP | Ensembl ].
    VAR_013616
    Natural varianti281 – 2811N → S Functionally silent polymorphism not affecting receptor surface expression, agonist binding and agonist-induced signaling. 1 Publication
    Corresponds to variant rs141177570 [ dbSNP | Ensembl ].
    VAR_059024
    Natural varianti289 – 2891C → R in CMM5; complete absence of functional coupling to the cAMP pathway; trafficked to the cell surface but unable to bind agonist efficiently. 1 Publication
    VAR_059025
    Natural varianti294 – 2941D → H Associated with a risk for developing melanoma; unable to stimulate cAMP production as strongly as the wild type receptor in response to alpha-melanocyte-stimulating hormone stimulation. 3 Publications
    Corresponds to variant rs1805009 [ dbSNP | Ensembl ].
    VAR_008524

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X65634 Genomic DNA. Translation: CAA46588.1.
    X67594 mRNA. Translation: CAA47865.1.
    AF153431 Genomic DNA. Translation: AAD41349.1.
    AF153432 Genomic DNA. Translation: AAD41350.1.
    AF153433 Genomic DNA. Translation: AAD41351.1.
    AF153434 Genomic DNA. Translation: AAD41352.1.
    AF153435 Genomic DNA. Translation: AAD41353.1.
    AF153436 Genomic DNA. Translation: AAD41354.1.
    AF153437 Genomic DNA. Translation: AAD41355.1.
    AF326275 Genomic DNA. Translation: AAK01121.1.
    AF263461 Genomic DNA. Translation: AAK58525.1.
    AY046528 Genomic DNA. Translation: AAL05887.1.
    AY046529 Genomic DNA. Translation: AAL05888.1.
    AB241548 Genomic DNA. Translation: BAE94314.1.
    AY363626 Genomic DNA. Translation: AAQ62976.1.
    AY225228 Genomic DNA. Translation: AAO67713.1.
    AF514787 Genomic DNA. Translation: AAM44861.1.
    BC007856 mRNA. Translation: AAH07856.1.
    BC080622 mRNA. Translation: AAH80622.1.
    CCDSiCCDS56011.1.
    PIRiS29204.
    RefSeqiNP_002377.4. NM_002386.3.
    UniGeneiHs.513829.

    Genome annotation databases

    EnsembliENST00000555147; ENSP00000451605; ENSG00000258839.
    GeneIDi4157.
    KEGGihsa:4157.
    UCSCiuc002fpe.4. human.

    Polymorphism databases

    DMDMi12644376.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    SeattleSNPs

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X65634 Genomic DNA. Translation: CAA46588.1 .
    X67594 mRNA. Translation: CAA47865.1 .
    AF153431 Genomic DNA. Translation: AAD41349.1 .
    AF153432 Genomic DNA. Translation: AAD41350.1 .
    AF153433 Genomic DNA. Translation: AAD41351.1 .
    AF153434 Genomic DNA. Translation: AAD41352.1 .
    AF153435 Genomic DNA. Translation: AAD41353.1 .
    AF153436 Genomic DNA. Translation: AAD41354.1 .
    AF153437 Genomic DNA. Translation: AAD41355.1 .
    AF326275 Genomic DNA. Translation: AAK01121.1 .
    AF263461 Genomic DNA. Translation: AAK58525.1 .
    AY046528 Genomic DNA. Translation: AAL05887.1 .
    AY046529 Genomic DNA. Translation: AAL05888.1 .
    AB241548 Genomic DNA. Translation: BAE94314.1 .
    AY363626 Genomic DNA. Translation: AAQ62976.1 .
    AY225228 Genomic DNA. Translation: AAO67713.1 .
    AF514787 Genomic DNA. Translation: AAM44861.1 .
    BC007856 mRNA. Translation: AAH07856.1 .
    BC080622 mRNA. Translation: AAH80622.1 .
    CCDSi CCDS56011.1.
    PIRi S29204.
    RefSeqi NP_002377.4. NM_002386.3.
    UniGenei Hs.513829.

    3D structure databases

    ProteinModelPortali Q01726.
    SMRi Q01726. Positions 46-313.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110327. 10 interactions.
    DIPi DIP-48789N.
    IntActi Q01726. 2 interactions.

    Chemistry

    BindingDBi Q01726.
    ChEMBLi CHEMBL3795.
    GuidetoPHARMACOLOGYi 282.

    Protein family/group databases

    GPCRDBi Search...

    PTM databases

    PhosphoSitei Q01726.

    Polymorphism databases

    DMDMi 12644376.

    Proteomic databases

    MaxQBi Q01726.
    PaxDbi Q01726.
    PRIDEi Q01726.

    Protocols and materials databases

    DNASUi 4157.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000555147 ; ENSP00000451605 ; ENSG00000258839 .
    GeneIDi 4157.
    KEGGi hsa:4157.
    UCSCi uc002fpe.4. human.

    Organism-specific databases

    CTDi 4157.
    GeneCardsi GC16P089982.
    HGNCi HGNC:6929. MC1R.
    MIMi 155555. gene.
    266300. phenotype.
    613098. phenotype.
    613099. phenotype.
    neXtProti NX_Q01726.
    Orphaneti 618. Familial melanoma.
    626. Large congenital melanocytic nevus.
    79432. Oculocutaneous albinism type 2.
    PharmGKBi PA30673.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5023.
    HOVERGENi HBG108148.
    InParanoidi Q01726.
    KOi K04199.
    TreeFami TF332646.

    Enzyme and pathway databases

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

    Miscellaneous databases

    ChiTaRSi MC1R. human.
    GeneWikii Melanocortin_1_receptor.
    GenomeRNAii 4157.
    NextBioi 16378.
    PROi Q01726.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q01726.
    Genevestigatori Q01726.

    Family and domain databases

    Gene3Di 1.20.1070.10. 1 hit.
    InterProi IPR000276. GPCR_Rhodpsn.
    IPR017452. GPCR_Rhodpsn_7TM.
    IPR001671. Melcrt_ACTH_rcpt.
    IPR000761. MSH_rcpt.
    [Graphical view ]
    PANTHERi PTHR22750:SF2. PTHR22750:SF2. 1 hit.
    Pfami PF00001. 7tm_1. 1 hit.
    [Graphical view ]
    PRINTSi PR00237. GPCRRHODOPSN.
    PR00534. MCRFAMILY.
    PR00536. MELNOCYTESHR.
    PROSITEi PS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
    PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The cloning of a family of genes that encode the melanocortin receptors."
      Mountjoy K.G., Robbins L.S., Mortrud M., Cone R.D.
      Science 257:1248-1251(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
      Tissue: Skin.
    2. "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].
    3. "Molecular cloning and expression of the human melanocyte stimulating hormone receptor cDNA."
      Chhajlani V., Wikberg J.E.S.
      FEBS Lett. 309:417-420(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    4. "High polymorphism at the human melanocortin 1 receptor locus."
      Rana B.K., Hewett-Emmett D., Jin L., Chang B.H., Sambuughin N., Lin M., Watkins S., Bamshad M., Jorde L.B., Ramsay M., Jenkins T., Li W.H.
      Genetics 151:1547-1557(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS GLN-67; GLU-84; MET-92; CYS-151 AND GLN-163.
    5. "The Pro162 variant is a loss-of-function mutation of the human melanocortin 1 receptor gene."
      Jimenez-Cervantes C., Olivares C., Gonzalez P., Morandini R., Ghanem G., Garcia-Borron J.C.
      J. Invest. Dermatol. 117:156-158(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT PRO-162.
    6. "The human melanocortin-1 receptor locus: analysis of transcription unit, locus polymorphism and haplotype evolution."
      Smith A.G., Box N.F., Marks L.H., Chen W., Smit D.J., Wyeth J.R., Huttley G.A., Easteal S., Sturm R.A.
      Gene 281:81-94(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    7. "Thr40 and Met122 are new partial loss-of-function natural mutations of the human melanocortin 1 receptor."
      Jimenez-Cervantes C., Germer S., Gonzalez P., Sanchez J., Sanchez C.O., Garcia-Borron J.C.
      FEBS Lett. 508:44-48(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-40 AND MET-122.
    8. "Identification of novel functional variants of the melanocortin 1 receptor gene originated from Asians."
      Nakayama K., Soemantri A., Jin F., Dashnyam B., Ohtsuka R., Duanchang P., Isa M.N., Settheetham-Ishida W., Harihara S., Ishida T.
      Hum. Genet. 119:322-330(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS GLN-67; THR-120; PHE-147 DEL; CYS-151; ILE-157; THR-159; GLN-163; GLY-166 AND MET-192, CHARACTERIZATION OF VARIANTS GLN-67; THR-120; PHE-147 DEL; CYS-151; ILE-157; THR-159; GLN-163; GLY-166 AND MET-192.
    9. Pastorino L., Cusano R., Lantieri F., Origone P., Bruno W., Barile M., Gliori S., Sturm R.A., Bianchi Scarra' G.
      Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    10. "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].
    11. SeattleSNPs variation discovery resource
      Submitted (MAY-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS LEU-60; MET-92; CYS-151; THR-155; LEU-156; TRP-160; GLN-163 AND LEU-196.
    12. "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], VARIANT THR-155.
      Tissue: Skin.
    13. Cited for: ASSOCIATION WITH FEMALE-SPECIFIC ANALGESIA FROM KAPPA-OPIOID RECEPTOR.
    14. "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, MUTAGENESIS OF LYS-65; LYS-226; LYS-238 AND LYS-310.
    15. "Modeling of the three-dimensional structure of the human melanocortin 1 receptor, using an automated method and docking of a rigid cyclic melanocyte-stimulating hormone core peptide."
      Prusis P., Schioth H.B., Muceniece R., Herzyk P., Afshar M., Hubbard R.E., Wikberg J.E.
      J. Mol. Graph. Model. 15:307-317(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: 3D-STRUCTURE MODELING.
    16. "Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans."
      Valverde P., Healy F., Jackson I., Rees J.L., Thody A.J.
      Nat. Genet. 11:328-330(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HIS-294.
    17. "The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma."
      Valverde P., Healy E., Sikkink S., Haldane F., Thody A.J., Carothers A., Jackson I.J., Rees J.L.
      Hum. Mol. Genet. 5:1663-1666(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT GLU-84.
    18. "Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair."
      Box N.F., Wyeth J.R., O'Gorman L.E., Martin N.G., Sturm R.A.
      Hum. Mol. Genet. 6:1891-1897(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS LEU-60; MET-92; CYS-151; TRP-160 AND HIS-294.
    19. "Identification of common polymorphisms in the coding sequence of the human MSH receptor (MC1R) with possible biological effects."
      Koppula S.V., Robbins L.S., Lu D., Baack E., White C.R. Jr., Swanson N.A., Cone R.D.
      Hum. Mutat. 9:30-36(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GLU-84 AND MET-92.
    20. "Human pigmentation phenotype: a point mutation generates nonfunctional MSH receptor."
      Fraendberg P.-A., Doufexis M., Kapas S., Chhajlani V.
      Biochem. Biophys. Res. Commun. 245:490-492(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CYS-151.
    21. Cited for: VARIANT TRP-160.
    22. "Loss of function mutations of the human melanocortin 1 receptor are common and are associated with red hair."
      Schioeth H.B., Phillips S.R., Rudzish R., Birch-Machin M.A., Wikberg J.E.S., Rees J.L.
      Biochem. Biophys. Res. Commun. 260:488-491(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANTS LEU-60; HIS-142; CYS-151; TRP-160 AND HIS-294.
    23. "Loss-of-function variants of the human melanocortin-1 receptor gene in melanoma cells define structural determinants of receptor function."
      Sanchez Mas J., Olivares Sanchez C., Ghanem G., Haycock J., Lozano Teruel J.A., Garcia-Borron J.C., Jimenez-Cervantes C.
      Eur. J. Biochem. 269:6133-6141(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ARG-93; HIS-142 AND CYS-151, CHARACTERIZATION OF VARIANTS ARG-93 AND CYS-151.
    24. "MC1R: three novel variants identified in a malignant melanoma association study in the Spanish population."
      Fernandez L., Milne R., Bravo J., Lopez J., Aviles J., Longo M., Benitez J., Lazaro P., Ribas G.
      Carcinogenesis 28:1659-1664(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CMM5 PHE-41 AND THR-128, VARIANTS LEU-60; THR-155; TRP-160; GLN-163; MET-192; SER-281 AND HIS-294.
    25. Cited for: VARIANT CYS-151, ASSOCIATION WITH SHEP2.
    26. Cited for: VARIANTS [LARGE SCALE ANALYSIS] LEU-60 AND MET-92.
    27. "Identification and functional analysis of novel variants of the human melanocortin 1 receptor found in melanoma patients."
      Perez Oliva A.B., Fernendez L.P., DeTorre C., Herraiz C., Martinez-Escribano J.A., Benitez J., Lozano Teruel J.A., Garcia-Borron J.C., Jimenez-Cervantes C., Ribas G.
      Hum. Mutat. 30:811-822(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CMM5 MET-38; ALA-51 AND ARG-289, CHARACTERIZATION OF VARIANTS CMM5 MET-38; PHE-41; ALA-51; THR-128 AND ARG-289, CHARACTERIZATION OF VARIANT SER-281.

    Entry informationi

    Entry nameiMSHR_HUMAN
    AccessioniPrimary (citable) accession number: Q01726
    Secondary accession number(s): Q66K38
    , Q6UR93, Q8WWX6, Q8WWX7, Q96I33, Q96RU4, Q9UBF7, Q9UN58, Q9UN59, Q9UN60, Q9UN61, Q9UN62
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 1, 1993
    Last sequence update: December 1, 2000
    Last modified: October 1, 2014
    This is version 157 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

    Complete proteome, Reference proteome

    Documents

    1. 7-transmembrane G-linked receptors
      List of 7-transmembrane G-linked receptor entries
    2. Human chromosome 16
      Human chromosome 16: 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

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