Q01726 (MSHR_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	317 AA.
Sequence status	Complete.
Protein existence	Evidence 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.14
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	Cutaneous malignant melanoma 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.24 Ref.27
Sequence similarities	Belongs to the G-protein coupled receptor 1 family.

Ontologies

Keywords
Cellular component	Cell membrane Membrane
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Domain	Transmembrane Transmembrane helix
Molecular function	G-protein coupled receptor Receptor Transducer
PTM	Glycoprotein Lipoprotein Palmitate
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger Traceable author statement Ref.20. Source: ProtInc UV protection Traceable author statement Ref.16. Source: ProtInc UV-damage excision repair Inferred from direct assay PubMed 18292087. Source: BHF-UCL intracellular protein kinase cascade Inferred from sequence or structural similarity PubMed 18292087. Source: BHF-UCL melanin biosynthetic process Inferred from electronic annotation. Source: Compara multicellular organismal development Traceable author statement Ref.16. 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 cascade Inferred from sequence or structural similarity PubMed 18292087. Source: BHF-UCL positive regulation of protein kinase B signaling cascade Inferred from sequence or structural similarity PubMed 18292087. Source: BHF-UCL positive regulation of protein kinase C signaling cascade 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: Compara
Cellular_component	cytoplasm Inferred from direct assay. Source: HPA integral to plasma membrane Traceable author statement Ref.20. Source: ProtInc microtubule cytoskeleton Inferred from direct assay. Source: HPA
Molecular_function	melanocyte-stimulating hormone receptor activity Inferred from physical interaction PubMed 19743876. Source: BHF-UCL
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 317	317	Melanocyte-stimulating hormone receptor		PRO_0000069818
Regions
	Topological domain	1 – 37	37	Extracellular Potential
	Transmembrane	38 – 63	26	Helical; Name=1; Potential
	Topological domain	64 – 72	9	Cytoplasmic Potential
	Transmembrane	73 – 93	21	Helical; Name=2; Potential
	Topological domain	94 – 118	25	Extracellular Potential
	Transmembrane	119 – 140	22	Helical; Name=3; Potential
	Topological domain	141 – 163	23	Cytoplasmic Potential
	Transmembrane	164 – 183	20	Helical; Name=4; Potential
	Topological domain	184 – 191	8	Extracellular Potential
	Transmembrane	192 – 211	20	Helical; Name=5; Potential
	Topological domain	212 – 240	29	Cytoplasmic Potential
	Transmembrane	241 – 266	26	Helical; Name=6; Potential
	Topological domain	267 – 279	13	Extracellular Potential
	Transmembrane	280 – 300	21	Helical; Name=7; Potential
	Topological domain	301 – 317	17	Cytoplasmic Potential
Amino acid modifications
	Lipidation	315	1	S-palmitoyl cysteine Potential
	Glycosylation	29	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	38	1	V → 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.27		VAR_059018
	Natural variant	40	1	I → T Associated with fair hair and light skin; partial loss-of-function. Ref.8		VAR_013611
	Natural variant	41	1	S → 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.24 Ref.27		VAR_059019
	Natural variant	51	1	V → 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.27		VAR_059020
	Natural variant	60	1	V → 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.11 Ref.18 Ref.22 Ref.24 Ref.26 Corresponds to variant rs1805005 [ dbSNP | Ensembl ].		VAR_013612
	Natural variant	67	1	R → 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 variant	84	1	D → E May be associated with a risk for developing melanoma. Ref.5 Ref.17 Ref.19 Corresponds to variant rs1805006 [ dbSNP | Ensembl ].		VAR_003507
	Natural variant	89	1	G → R. Corresponds to variant rs34540312 [ dbSNP | Ensembl ].		VAR_042654
	Natural variant	92	1	V → 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.11 Ref.18 Ref.19 Ref.26 Corresponds to variant rs2228479 [ dbSNP | Ensembl ].		VAR_003508
	Natural variant	93	1	L → R Loss-of-function mutation abolishing agonist binding. Ref.23		VAR_059021
	Natural variant	95	1	T → M. Corresponds to variant rs34158934 [ dbSNP | Ensembl ].		VAR_042655
	Natural variant	104	1	G → S. Corresponds to variant rs2229617 [ dbSNP | Ensembl ].		VAR_042656
	Natural variant	120	1	I → 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 variant	122	1	V → M Associated with fair hair and light skin; partial loss-of-function. Ref.8		VAR_013613
	Natural variant	128	1	M → T in CMM5; complete absence of functional coupling to the cAMP pathway; trafficked to the cell surface but unable to bind agonist efficiently. Ref.24 Ref.27		VAR_059022
	Natural variant	142	1	R → H. Ref.22 Ref.23 Corresponds to variant rs11547464 [ dbSNP | Ensembl ].		VAR_059023
	Natural variant	147	1	Missing Associated with UV induced susceptibility to skin damage; unresponsive to NDP-MSH stimulation. Ref.9		VAR_042658
	Natural variant	151	1	R → 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.11 Ref.18 Ref.20 Ref.22 Ref.23 Ref.25 Corresponds to variant rs1805007 [ dbSNP | Ensembl ].		VAR_008522
	Natural variant	155	1	I → T Associated with a risk for developing melanoma. Ref.11 Ref.12 Ref.24 Corresponds to variant rs1110400 [ dbSNP | Ensembl ].		VAR_013614
	Natural variant	156	1	V → L. Ref.11 Corresponds to variant rs3212365 [ dbSNP | Ensembl ].		VAR_013615
	Natural variant	157	1	T → I Associated with UV induced susceptibility to skin damage; shows a dramatically decreased cAMP production to NDP-MSH stimulation. Ref.9		VAR_042659
	Natural variant	159	1	P → T Associated with UV induced susceptibility to skin damage; shows a strong decreased cAMP production to NDP-MSH stimulation. Ref.9		VAR_042660
	Natural variant	160	1	R → 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.11 Ref.18 Ref.21 Ref.22 Ref.24 Corresponds to variant rs1805008 [ dbSNP | Ensembl ].		VAR_008523
	Natural variant	162	1	R → P. Ref.6		VAR_013632
	Natural variant	163	1	R → 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.11 Ref.24 Corresponds to variant rs885479 [ dbSNP | Ensembl ].		VAR_009523
	Natural variant	166	1	A → 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 variant	171	1	A → S. Corresponds to variant rs35784916 [ dbSNP | Ensembl ].		VAR_042662
	Natural variant	192	1	L → 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.24		VAR_042663
	Natural variant	196	1	F → L. Ref.11 Corresponds to variant rs3212366 [ dbSNP | Ensembl ].		VAR_013616
	Natural variant	281	1	N → S Functionally silent polymorphism not affecting receptor surface expression, agonist binding and agonist-induced signaling. Ref.24 Ref.27		VAR_059024
	Natural variant	289	1	C → R in CMM5; complete absence of functional coupling to the cAMP pathway; trafficked to the cell surface but unable to bind agonist efficiently. Ref.27		VAR_059025
	Natural variant	294	1	D → 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.16 Ref.18 Ref.22 Ref.24 Corresponds to variant rs1805009 [ dbSNP | Ensembl ].		VAR_008524
Experimental info
	Mutagenesis	65	1	K → R: Only minor effect on internalization rate and protein half-life; when associated with R-226; R-238 and R-310. Ref.14
	Mutagenesis	226	1	K → R: Only minor effect on internalization rate and protein half-life; when associated with R-65; R-238 and R-310. Ref.14
	Mutagenesis	238	1	K → R: Only minor effect on internalization rate and protein half-life; when associated with R-65; R-226 and R-310. Ref.14
	Mutagenesis	310	1	K → R: Only minor effect on internalization rate and protein half-life; when associated with R-65; R-226 and R-238. Ref.14
	Sequence conflict	90	1	S → T Ref.1
	Sequence conflict	90	1	S → T Ref.2
	Sequence conflict	164	1	A → R Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Q01726 [UniParc]. Last modified December 1, 2000. Version 2. Checksum: CB67405A562C29B2	FASTA	317	34,706
	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

References

	« Hide 'large scale' referencesShow '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]	"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]	"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.
[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]	"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.
[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]	"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. , 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.
[26]	"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. , 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.
[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.
+	Additional computationally mapped references.

Web resources

SeattleSNPs

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. AY225228 Genomic DNA. Translation: AAO67713.1. AF514787 Genomic DNA. Translation: AAM44861.1. BC007856 mRNA. Translation: AAH07856.1. BC080622 mRNA. Translation: AAH80622.1.
IPI	IPI00152453.
PIR	S29204.
RefSeq	NP_002377.4. NM_002386.3.
UniGene	Hs.513829.
3D structure databases
ProteinModelPortal	Q01726.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-48789N.
Protein family/group databases
GPCRDB	Search...
PTM databases
PhosphoSite	Q01726.
Polymorphism databases
DMDM	12644376.
Proteomic databases
PaxDb	Q01726.
PRIDE	Q01726.
Protocols and materials databases
DNASU	4157.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000555147; ENSP00000451605; ENSG00000258839.
GeneID	4157.
KEGG	hsa:4157.
UCSC	uc002fpe.4. human.
Organism-specific databases
CTD	4157.
GeneCards	GC16P089979. GC16P089985.
HGNC	HGNC:6929. MC1R.
MIM	155555. gene. 266300. phenotype. 613098. phenotype. 613099. phenotype.
neXtProt	NX_Q01726.
Orphanet	618. Familial melanoma. 79432. Oculocutaneous albinism type 2.
PharmGKB	PA30673.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5023.
HOVERGEN	HBG108148.
InParanoid	Q01726.
KO	K04199.
OrthoDB	EOG4W6NW0.
Enzyme and pathway databases
Reactome	REACT_111102. Signal Transduction.
Gene expression databases
ArrayExpress	Q01726.
Bgee	Q01726.
Genevestigator	Q01726.
GermOnline	ENSG00000198211. Homo sapiens.
Family and domain databases
InterPro	IPR000276. GPCR_Rhodpsn. IPR017452. GPCR_Rhodpsn_7TM. IPR001671. Melcrt_ACTH_rcpt. IPR000761. MSH_rcpt. [Graphical view]
PANTHER	PTHR22750:SF2. PTHR22750:SF2. 1 hit.
Pfam	PF00001. 7tm_1. 1 hit. [Graphical view]
PRINTS	PR00237. GPCRRHODOPSN. PR00534. MCRFAMILY. PR00536. MELNOCYTESHR.
PROSITE	PS00237. G_PROTEIN_RECEP_F1_1. 1 hit. PS50262. G_PROTEIN_RECEP_F1_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
BindingDB	Q01726.
ChEMBL	CHEMBL3795.
ChiTaRS	MC1R. human.
GenomeRNAi	4157.
NextBio	16378.
SOURCE	Search...

Entry information

Entry name

MSHR_HUMAN

Accession

Primary (citable) accession number: Q01726
Secondary accession number(s): Q66K38 , 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:	May 1, 2013
This is version 142 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.