Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q01726 (MSHR_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 155. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Melanocyte-stimulating hormone receptor

Short name=MSH-R
Alternative name(s):
Melanocortin receptor 1
Short name=MC1-R
Gene names
Name:MC1R
Synonyms:MSHR
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length317 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subunit structure

Interacts with MGRN1, but does not undergo MGRN1-mediated ubiquitination; this interaction competes with GNAS-binding and thus inhibits agonist-induced cAMP production. Ref.15

Subcellular location

Cell membrane; Multi-pass membrane protein.

Tissue specificity

Melanocytes and corticoadrenal tissue.

Polymorphism

Genetic variants in MC1R define the skin/hair/eye pigmentation variation locus 2 (SHEP2) [MIM: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 [MIM:613098].

Involvement in disease

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.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.25 Ref.28

Sequence similarities

Belongs to the G-protein coupled receptor 1 family.

Ontologies

Keywords
   Cellular componentCell membrane
Membrane
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
   DomainTransmembrane
Transmembrane helix
   Molecular functionG-protein coupled receptor
Receptor
Transducer
   PTMGlycoprotein
Lipoprotein
Palmitate
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processG-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger

Traceable author statement Ref.21. Source: ProtInc

UV protection

Traceable author statement Ref.17. Source: ProtInc

UV-damage excision repair

Inferred from direct assay PubMed 18292087. Source: BHF-UCL

intracellular signal transduction

Inferred from sequence or structural similarity PubMed 18292087. Source: BHF-UCL

melanin biosynthetic process

Inferred from electronic annotation. Source: Ensembl

multicellular organismal development

Traceable author statement Ref.17. Source: ProtInc

negative regulation of tumor necrosis factor production

Inferred from mutant phenotype PubMed 10233018. Source: BHF-UCL

pigmentation

Traceable author statement PubMed 18292087. Source: BHF-UCL

positive regulation of cAMP biosynthetic process

Inferred from direct assay PubMed 19329486PubMed 19743876. Source: BHF-UCL

positive regulation of protein kinase A signaling

Inferred from sequence or structural similarity PubMed 18292087. Source: BHF-UCL

positive regulation of protein kinase B signaling

Inferred from sequence or structural similarity PubMed 18292087. Source: BHF-UCL

positive regulation of protein kinase C signaling

Inferred from sequence or structural similarity PubMed 18292087. Source: BHF-UCL

positive regulation of transcription from RNA polymerase II promoter

Inferred from sequence or structural similarity PubMed 18292087. Source: BHF-UCL

sensory perception of pain

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentintegral component of plasma membrane

Traceable author statement Ref.21. Source: ProtInc

plasma membrane

Inferred from direct assay PubMed 19452503. Source: BHF-UCL

   Molecular_functionG-protein coupled peptide receptor activity

Traceable author statement PubMed 18292087. Source: BHF-UCL

melanocortin receptor activity

Traceable author statement Ref.21. Source: ProtInc

melanocyte-stimulating hormone receptor activity

Inferred from physical interaction PubMed 19743876. Source: BHF-UCL

protein binding

Inferred from physical interaction PubMed 19329486PubMed 19743876. Source: BHF-UCL

ubiquitin protein ligase binding

Inferred from physical interaction Ref.15. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 317317Melanocyte-stimulating hormone receptor
PRO_0000069818

Regions

Topological domain1 – 3737Extracellular Potential
Transmembrane38 – 6326Helical; Name=1; Potential
Topological domain64 – 729Cytoplasmic Potential
Transmembrane73 – 9321Helical; Name=2; Potential
Topological domain94 – 11825Extracellular Potential
Transmembrane119 – 14022Helical; Name=3; Potential
Topological domain141 – 16323Cytoplasmic Potential
Transmembrane164 – 18320Helical; Name=4; Potential
Topological domain184 – 1918Extracellular Potential
Transmembrane192 – 21120Helical; Name=5; Potential
Topological domain212 – 24029Cytoplasmic Potential
Transmembrane241 – 26626Helical; Name=6; Potential
Topological domain267 – 27913Extracellular Potential
Transmembrane280 – 30021Helical; Name=7; Potential
Topological domain301 – 31717Cytoplasmic Potential

Amino acid modifications

Lipidation3151S-palmitoyl cysteine Potential
Glycosylation291N-linked (GlcNAc...) Potential

Natural variations

Natural variant381V → M in CMM5; moderate decrease in coupling to the cAMP pathway; reduced cell surface expression as a consequence of retention in the endoplasmic reticulum. Ref.28
VAR_059018
Natural variant401I → T Associated with fair hair and light skin; partial loss-of-function. Ref.8
VAR_013611
Natural variant411S → 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. Ref.25 Ref.28
VAR_059019
Natural variant511V → A in CMM5; moderate decrease in coupling to the cAMP pathway; reduced cell surface expression as a consequence of retention in the endoplasmic reticulum. Ref.28
VAR_059020
Natural variant601V → 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. Ref.12 Ref.19 Ref.23 Ref.25 Ref.27
Corresponds to variant rs1805005 [ dbSNP | Ensembl ].
VAR_013612
Natural variant671R → 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. Ref.5 Ref.9
Corresponds to variant rs34090186 [ dbSNP | Ensembl ].
VAR_009522
Natural variant841D → E May be associated with a risk for developing melanoma. Ref.5 Ref.18 Ref.20
Corresponds to variant rs1805006 [ dbSNP | Ensembl ].
VAR_003507
Natural variant891G → R.
Corresponds to variant rs34540312 [ dbSNP | Ensembl ].
VAR_042654
Natural variant921V → 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. Ref.5 Ref.12 Ref.19 Ref.20 Ref.27
Corresponds to variant rs2228479 [ dbSNP | Ensembl ].
VAR_003508
Natural variant931L → R Loss-of-function mutation abolishing agonist binding. Ref.24
VAR_059021
Natural variant951T → M.
Corresponds to variant rs34158934 [ dbSNP | Ensembl ].
VAR_042655
Natural variant1041G → S.
Corresponds to variant rs2229617 [ dbSNP | Ensembl ].
VAR_042656
Natural variant1201I → 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. Ref.9
Corresponds to variant rs33932559 [ dbSNP | Ensembl ].
VAR_042657
Natural variant1221V → M Associated with fair hair and light skin; partial loss-of-function. Ref.8
VAR_013613
Natural variant1281M → T in CMM5; complete absence of functional coupling to the cAMP pathway; trafficked to the cell surface but unable to bind agonist efficiently. Ref.25 Ref.28
VAR_059022
Natural variant1421R → H. Ref.23 Ref.24
Corresponds to variant rs11547464 [ dbSNP | Ensembl ].
VAR_059023
Natural variant1471Missing Associated with UV induced susceptibility to skin damage; unresponsive to NDP-MSH stimulation. Ref.9
VAR_042658
Natural variant1511R → C Associated with red hair and light skin of type I; binds to alpha-MSH but cannot be stimulated to produce cAMP. Ref.5 Ref.9 Ref.12 Ref.19 Ref.21 Ref.23 Ref.24 Ref.26
Corresponds to variant rs1805007 [ dbSNP | Ensembl ].
VAR_008522
Natural variant1551I → T Associated with a risk for developing melanoma. Ref.12 Ref.13 Ref.25
Corresponds to variant rs1110400 [ dbSNP | Ensembl ].
VAR_013614
Natural variant1561V → L. Ref.12
Corresponds to variant rs3212365 [ dbSNP | Ensembl ].
VAR_013615
Natural variant1571T → I Associated with UV induced susceptibility to skin damage; shows a dramatically decreased cAMP production to NDP-MSH stimulation. Ref.9
VAR_042659
Natural variant1591P → T Associated with UV induced susceptibility to skin damage; shows a strong decreased cAMP production to NDP-MSH stimulation. Ref.9
VAR_042660
Natural variant1601R → 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. Ref.12 Ref.19 Ref.22 Ref.23 Ref.25
Corresponds to variant rs1805008 [ dbSNP | Ensembl ].
VAR_008523
Natural variant1621R → P. Ref.6
VAR_013632
Natural variant1631R → 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. Ref.5 Ref.9 Ref.12 Ref.25
Corresponds to variant rs885479 [ dbSNP | Ensembl ].
VAR_009523
Natural variant1661A → 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. Ref.9
Corresponds to variant rs35040147 [ dbSNP | Ensembl ].
VAR_042661
Natural variant1711A → S.
Corresponds to variant rs35784916 [ dbSNP | Ensembl ].
VAR_042662
Natural variant1921L → 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. Ref.9 Ref.25
VAR_042663
Natural variant1961F → L. Ref.12
Corresponds to variant rs3212366 [ dbSNP | Ensembl ].
VAR_013616
Natural variant2811N → S Functionally silent polymorphism not affecting receptor surface expression, agonist binding and agonist-induced signaling. Ref.25 Ref.28
Corresponds to variant rs141177570 [ dbSNP | Ensembl ].
VAR_059024
Natural variant2891C → R in CMM5; complete absence of functional coupling to the cAMP pathway; trafficked to the cell surface but unable to bind agonist efficiently. Ref.28
VAR_059025
Natural variant2941D → 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. Ref.17 Ref.19 Ref.23 Ref.25
Corresponds to variant rs1805009 [ dbSNP | Ensembl ].
VAR_008524

Experimental info

Mutagenesis651K → R: Only minor effect on internalization rate and protein half-life; when associated with R-226; R-238 and R-310. Ref.15
Mutagenesis2261K → R: Only minor effect on internalization rate and protein half-life; when associated with R-65; R-238 and R-310. Ref.15
Mutagenesis2381K → R: Only minor effect on internalization rate and protein half-life; when associated with R-65; R-226 and R-310. Ref.15
Mutagenesis3101K → R: Only minor effect on internalization rate and protein half-life; when associated with R-65; R-226 and R-238. Ref.15
Sequence conflict901S → T Ref.1
Sequence conflict901S → T Ref.2
Sequence conflict1641A → R Ref.3
Sequence conflict2221A → T in AAQ62976. Ref.10

Sequences

Sequence LengthMass (Da)Tools
Q01726 [UniParc].

Last modified December 1, 2000. Version 2.
Checksum: CB67405A562C29B2

FASTA31734,706
        10         20         30         40         50         60 
MAVQGSQRRL LGSLNSTPTA IPQLGLAANQ TGARCLEVSI SDGLFLSLGL VSLVENALVV 

        70         80         90        100        110        120 
ATIAKNRNLH SPMYCFICCL ALSDLLVSGS NVLETAVILL LEAGALVARA AVLQQLDNVI 

       130        140        150        160        170        180 
DVITCSSMLS SLCFLGAIAV DRYISIFYAL RYHSIVTLPR ARRAVAAIWV ASVVFSTLFI 

       190        200        210        220        230        240 
AYYDHVAVLL CLVVFFLAML VLMAVLYVHM LARACQHAQG IARLHKRQRP VHQGFGLKGA 

       250        260        270        280        290        300 
VTLTILLGIF FLCWGPFFLH LTLIVLCPEH PTCGCIFKNF NLFLALIICN AIIDPLIYAF 

       310 
HSQELRRTLK EVLTCSW 

« Hide

References

« Hide 'large scale' references
[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]Erratum
Chhajlani V., Wikberg J.E.S.
FEBS Lett. 390:238-238(1996) [PubMed] [Europe PMC] [Abstract]
[5]"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.
[6]"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.
[7]"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].
[8]"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.
[9]"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.
[10]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].
[11]"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].
[12]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.
[13]"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.
[14]"The melanocortin-1 receptor gene mediates female-specific mechanisms of analgesia in mice and humans."
Mogil J.S., Wilson S.G., Chesler E.J., Rankin A.L., Nemmani K.V., Lariviere W.R., Groce M.K., Wallace M.R., Kaplan L., Staud R., Ness T.J., Glover T.L., Stankova M., Mayorov A., Hruby V.J., Grisel J.E., Fillingim R.B.
Proc. Natl. Acad. Sci. U.S.A. 100:4867-4872(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: ASSOCIATION WITH FEMALE-SPECIFIC ANALGESIA FROM KAPPA-OPIOID RECEPTOR.
[15]"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.
[16]"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.
[17]"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.
[18]"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.
[19]"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.
[20]"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.
[21]"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.
[22]"Melanocortin 1 receptor variants in an Irish population."
Smith R., Healy E., Siddiqui S., Flanagan N., Steijlen P.M., Rosdahl I., Jacques J.P., Rogers S., Turner R., Jackson I.J., Birch-MacHin M.A., Rees J.L.
J. Invest. Dermatol. 111:119-122(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT TRP-160.
[23]"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.
[24]"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.
[25]"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.
[26]"Genetic determinants of hair, eye and skin pigmentation in Europeans."
Sulem P., Gudbjartsson D.F., Stacey S.N., Helgason A., Rafnar T., Magnusson K.P., Manolescu A., Karason A., Palsson A., Thorleifsson G., Jakobsdottir M., Steinberg S., Palsson S., Jonasson F., Sigurgeirsson B., Thorisdottir K., Ragnarsson R., Benediktsdottir K.R. expand/collapse author list , Aben K.K., Kiemeney L.A., Olafsson J.H., Gulcher J., Kong A., Thorsteinsdottir U., Stefansson K.
Nat. Genet. 39:1443-1452(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CYS-151, ASSOCIATION WITH SHEP2.
[27]"DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome."
Ley T.J., Mardis E.R., Ding L., Fulton B., McLellan M.D., Chen K., Dooling D., Dunford-Shore B.H., McGrath S., Hickenbotham M., Cook L., Abbott R., Larson D.E., Koboldt D.C., Pohl C., Smith S., Hawkins A., Abbott S. expand/collapse author list , Locke D., Hillier L.W., Miner T., Fulton L., Magrini V., Wylie T., Glasscock J., Conyers J., Sander N., Shi X., Osborne J.R., Minx P., Gordon D., Chinwalla A., Zhao Y., Ries R.E., Payton J.E., Westervelt P., Tomasson M.H., Watson M., Baty J., Ivanovich J., Heath S., Shannon W.D., Nagarajan R., Walter M.J., Link D.C., Graubert T.A., DiPersio J.F., Wilson R.K.
Nature 456:66-72(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS [LARGE SCALE ANALYSIS] LEU-60 AND MET-92.
[28]"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.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS56011.1.
PIRS29204.
RefSeqNP_002377.4. NM_002386.3.
UniGeneHs.513829.

3D structure databases

ProteinModelPortalQ01726.
SMRQ01726. Positions 46-313.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110327. 10 interactions.
DIPDIP-48789N.

Chemistry

BindingDBQ01726.
ChEMBLCHEMBL3795.
GuidetoPHARMACOLOGY282.

Protein family/group databases

GPCRDBSearch...

PTM databases

PhosphoSiteQ01726.

Polymorphism databases

DMDM12644376.

Proteomic databases

MaxQBQ01726.
PaxDbQ01726.
PRIDEQ01726.

Protocols and materials databases

DNASU4157.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000555147; ENSP00000451605; ENSG00000258839.
GeneID4157.
KEGGhsa:4157.
UCSCuc002fpe.4. human.

Organism-specific databases

CTD4157.
GeneCardsGC16P089982.
HGNCHGNC:6929. MC1R.
MIM155555. gene.
266300. phenotype.
613098. phenotype.
613099. phenotype.
neXtProtNX_Q01726.
Orphanet618. Familial melanoma.
626. Large congenital melanocytic nevus.
79432. Oculocutaneous albinism type 2.
PharmGKBPA30673.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5023.
HOVERGENHBG108148.
InParanoidQ01726.
KOK04199.
TreeFamTF332646.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.

Gene expression databases

BgeeQ01726.
GenevestigatorQ01726.

Family and domain databases

Gene3D1.20.1070.10. 1 hit.
InterProIPR000276. GPCR_Rhodpsn.
IPR017452. GPCR_Rhodpsn_7TM.
IPR001671. Melcrt_ACTH_rcpt.
IPR000761. MSH_rcpt.
[Graphical view]
PANTHERPTHR22750:SF2. PTHR22750:SF2. 1 hit.
PfamPF00001. 7tm_1. 1 hit.
[Graphical view]
PRINTSPR00237. GPCRRHODOPSN.
PR00534. MCRFAMILY.
PR00536. MELNOCYTESHR.
PROSITEPS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSMC1R. human.
GeneWikiMelanocortin_1_receptor.
GenomeRNAi4157.
NextBio16378.
PROQ01726.
SOURCESearch...

Entry information

Entry nameMSHR_HUMAN
AccessionPrimary (citable) accession number: Q01726
Secondary accession number(s): Q66K38 expand/collapse secondary AC list , Q6UR93, Q8WWX6, Q8WWX7, Q96I33, Q96RU4, Q9UBF7, Q9UN58, Q9UN59, Q9UN60, Q9UN61, Q9UN62
Entry history
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: December 1, 2000
Last modified: July 9, 2014
This is version 155 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM

7-transmembrane G-linked receptors

List of 7-transmembrane G-linked receptor entries