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Melanocyte-stimulating hormone receptor (MSH-R) (Melanocortin receptor 1) (MC1-R)

 MSHR_HUMAN              Reviewed;         317 AA.
Q01726; Q66K38; Q6UR93; Q8WWX6; Q8WWX7; Q96I33; Q96RU4; Q9UBF7;
Q9UN58; Q9UN59; Q9UN60; Q9UN61; Q9UN62;
01-JUL-1993, integrated into UniProtKB/Swiss-Prot.
01-DEC-2000, sequence version 2.
10-OCT-2018, entry version 193.
RecName: Full=Melanocyte-stimulating hormone receptor;
Short=MSH-R;
AltName: Full=Melanocortin receptor 1;
Short=MC1-R;
Name=MC1R; Synonyms=MSHR;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
TISSUE=Skin;
PubMed=1325670; DOI=10.1126/science.1325670;
Mountjoy K.G., Robbins L.S., Mortrud M., Cone R.D.;
"The cloning of a family of genes that encode the melanocortin
receptors.";
Science 257:1248-1251(1992).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=8463333;
Gantz I., Konda Y., Tashiro T., Shimoto Y., Miwa H., Munzert G.,
Watson S.J., Delvalle J., Yamada T.;
"Molecular cloning of a novel melanocortin receptor.";
J. Biol. Chem. 268:8246-8250(1993).
[3]
NUCLEOTIDE SEQUENCE [MRNA].
PubMed=1516719; DOI=10.1016/0014-5793(92)80820-7;
Chhajlani V., Wikberg J.E.S.;
"Molecular cloning and expression of the human melanocyte stimulating
hormone receptor cDNA.";
FEBS Lett. 309:417-420(1992).
[4]
ERRATUM.
PubMed=8706868; DOI=10.1016/0014-5793(96)81375-5;
Chhajlani V., Wikberg J.E.S.;
FEBS Lett. 390:238-238(1996).
[5]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS GLN-67; GLU-84;
MET-92; CYS-151 AND GLN-163.
PubMed=10101176;
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.;
"High polymorphism at the human melanocortin 1 receptor locus.";
Genetics 151:1547-1557(1999).
[6]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT PRO-162.
PubMed=11442765; DOI=10.1046/j.0022-202x.2001.01393.x;
Jimenez-Cervantes C., Olivares C., Gonzalez P., Morandini R.,
Ghanem G., Garcia-Borron J.C.;
"The Pro162 variant is a loss-of-function mutation of the human
melanocortin 1 receptor gene.";
J. Invest. Dermatol. 117:156-158(2001).
[7]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=11750130; DOI=10.1016/S0378-1119(01)00791-0;
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.;
"The human melanocortin-1 receptor locus: analysis of transcription
unit, locus polymorphism and haplotype evolution.";
Gene 281:81-94(2001).
[8]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS THR-40 AND MET-122.
PubMed=11707265; DOI=10.1016/S0014-5793(01)03025-3;
Jimenez-Cervantes C., Germer S., Gonzalez P., Sanchez J.,
Sanchez C.O., Garcia-Borron J.C.;
"Thr40 and Met122 are new partial loss-of-function natural mutations
of the human melanocortin 1 receptor.";
FEBS Lett. 508:44-48(2001).
[9]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS GLN-67; MET-92; THR-120;
PHE-147 DEL; CYS-151; ILE-157; THR-159; GLN-163 AND GLY-166, AND
CHARACTERIZATION OF VARIANTS GLN-67; MET-92; THR-120; PHE-147 DEL;
CYS-151; ILE-157; THR-159; GLN-163 AND GLY-166.
PubMed=16463023; DOI=10.1007/s00439-006-0141-1;
Nakayama K., Soemantri A., Jin F., Dashnyam B., Ohtsuka R.,
Duanchang P., Isa M.N., Settheetham-Ishida W., Harihara S., Ishida T.;
"Identification of novel functional variants of the melanocortin 1
receptor gene originated from Asians.";
Hum. Genet. 119:322-330(2006).
[10]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
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.
[11]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Kopatz S.A., Aronstam R.S., Sharma S.V.;
"cDNA clones of human proteins involved in signal transduction
sequenced by the Guthrie cDNA resource center (www.cdna.org).";
Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases.
[12]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS LEU-60; MET-92;
CYS-151; THR-155; LEU-156; TRP-160; GLN-163 AND LEU-196.
SeattleSNPs variation discovery resource;
Submitted (MAY-2002) to the EMBL/GenBank/DDBJ databases.
[13]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT THR-155.
TISSUE=Skin;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[14]
ASSOCIATION WITH FEMALE-SPECIFIC ANALGESIA FROM KAPPA-OPIOID RECEPTOR.
PubMed=12663858; DOI=10.1073/pnas.0730053100;
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.;
"The melanocortin-1 receptor gene mediates female-specific mechanisms
of analgesia in mice and humans.";
Proc. Natl. Acad. Sci. U.S.A. 100:4867-4872(2003).
[15]
INTERACTION WITH MGRN1, AND MUTAGENESIS OF LYS-65; LYS-226; LYS-238
AND LYS-310.
PubMed=19737927; DOI=10.1074/jbc.M109.028100;
Perez-Oliva A.B., Olivares C., Jimenez-Cervantes C.,
Garcia-Borron J.C.;
"Mahogunin ring finger-1 (MGRN1) E3 ubiquitin ligase inhibits
signaling from melanocortin receptor by competition with Galphas.";
J. Biol. Chem. 284:31714-31725(2009).
[16]
3D-STRUCTURE MODELING.
PubMed=9640562; DOI=10.1016/S1093-3263(98)00004-7;
Prusis P., Schioth H.B., Muceniece R., Herzyk P., Afshar M.,
Hubbard R.E., Wikberg J.E.;
"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.";
J. Mol. Graph. Model. 15:307-317(1997).
[17]
VARIANT HIS-294.
PubMed=7581459; DOI=10.1038/ng1195-328;
Valverde P., Healy F., Jackson I., Rees J.L., Thody A.J.;
"Variants of the melanocyte-stimulating hormone receptor gene are
associated with red hair and fair skin in humans.";
Nat. Genet. 11:328-330(1995).
[18]
VARIANT GLU-84.
PubMed=8894704; DOI=10.1093/hmg/5.10.1663;
Valverde P., Healy E., Sikkink S., Haldane F., Thody A.J.,
Carothers A., Jackson I.J., Rees J.L.;
"The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is
associated with melanoma.";
Hum. Mol. Genet. 5:1663-1666(1996).
[19]
VARIANTS LEU-60; MET-92; CYS-151; TRP-160 AND HIS-294.
PubMed=9302268; DOI=10.1093/hmg/6.11.1891;
Box N.F., Wyeth J.R., O'Gorman L.E., Martin N.G., Sturm R.A.;
"Characterization of melanocyte stimulating hormone receptor variant
alleles in twins with red hair.";
Hum. Mol. Genet. 6:1891-1897(1997).
[20]
VARIANTS GLU-84 AND MET-92.
PubMed=8990005;
DOI=10.1002/(SICI)1098-1004(1997)9:1<30::AID-HUMU5>3.0.CO;2-T;
Koppula S.V., Robbins L.S., Lu D., Baack E., White C.R. Jr.,
Swanson N.A., Cone R.D.;
"Identification of common polymorphisms in the coding sequence of the
human MSH receptor (MC1R) with possible biological effects.";
Hum. Mutat. 9:30-36(1997).
[21]
VARIANT CYS-151.
PubMed=9571181; DOI=10.1006/bbrc.1998.8459;
Fraendberg P.-A., Doufexis M., Kapas S., Chhajlani V.;
"Human pigmentation phenotype: a point mutation generates
nonfunctional MSH receptor.";
Biochem. Biophys. Res. Commun. 245:490-492(1998).
[22]
VARIANT TRP-160.
PubMed=9665397; DOI=10.1046/j.1523-1747.1998.00252.x;
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.;
"Melanocortin 1 receptor variants in an Irish population.";
J. Invest. Dermatol. 111:119-122(1998).
[23]
CHARACTERIZATION OF VARIANTS LEU-60; HIS-142; CYS-151; TRP-160 AND
HIS-294.
PubMed=10403794; DOI=10.1006/bbrc.1999.0935;
Schioeth H.B., Phillips S.R., Rudzish R., Birch-Machin M.A.,
Wikberg J.E.S., Rees J.L.;
"Loss of function mutations of the human melanocortin 1 receptor are
common and are associated with red hair.";
Biochem. Biophys. Res. Commun. 260:488-491(1999).
[24]
VARIANTS ARG-93; HIS-142 AND CYS-151, AND CHARACTERIZATION OF VARIANTS
ARG-93 AND CYS-151.
PubMed=12473109; DOI=10.1046/j.1432-1033.2002.03329.x;
Sanchez Mas J., Olivares Sanchez C., Ghanem G., Haycock J.,
Lozano Teruel J.A., Garcia-Borron J.C., Jimenez-Cervantes C.;
"Loss-of-function variants of the human melanocortin-1 receptor gene
in melanoma cells define structural determinants of receptor
function.";
Eur. J. Biochem. 269:6133-6141(2002).
[25]
CHARACTERIZATION OF VARIANTS GLU-84; CYS-151; THR-155 AND TRP-160.
PubMed=15972726; DOI=10.1093/hmg/ddi219;
Beaumont K.A., Newton R.A., Smit D.J., Leonard J.H., Stow J.L.,
Sturm R.A.;
"Altered cell surface expression of human MC1R variant receptor
alleles associated with red hair and skin cancer risk.";
Hum. Mol. Genet. 14:2145-2154(2005).
[26]
VARIANTS CMM5 PHE-41 AND THR-128, AND VARIANTS LEU-60; MET-92;
THR-155; TRP-160; GLN-163; SER-281 AND HIS-294.
PubMed=17434924; DOI=10.1093/carcin/bgm084;
Fernandez L., Milne R., Bravo J., Lopez J., Aviles J., Longo M.,
Benitez J., Lazaro P., Ribas G.;
"MC1R: three novel variants identified in a malignant melanoma
association study in the Spanish population.";
Carcinogenesis 28:1659-1664(2007).
[27]
VARIANT CYS-151, AND ASSOCIATION WITH SHEP2.
PubMed=17952075; DOI=10.1038/ng.2007.13;
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.;
"Genetic determinants of hair, eye and skin pigmentation in
Europeans.";
Nat. Genet. 39:1443-1452(2007).
[28]
VARIANTS [LARGE SCALE ANALYSIS] LEU-60 AND MET-92.
PubMed=18987736; DOI=10.1038/nature07485;
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.;
"DNA sequencing of a cytogenetically normal acute myeloid leukaemia
genome.";
Nature 456:66-72(2008).
[29]
VARIANTS CMM5 MET-38; ALA-51 AND ARG-289, CHARACTERIZATION OF VARIANTS
CMM5 MET-38; PHE-41; ALA-51; THR-128 AND ARG-289, AND CHARACTERIZATION
OF VARIANT SER-281.
PubMed=19338054; DOI=10.1002/humu.20971;
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.;
"Identification and functional analysis of novel variants of the human
melanocortin 1 receptor found in melanoma patients.";
Hum. Mutat. 30:811-822(2009).
-!- 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: Interacts with MGRN1, but does not undergo MGRN1-mediated
ubiquitination; this interaction competes with GNAS-binding and
thus inhibits agonist-induced cAMP production.
{ECO:0000269|PubMed:19737927}.
-!- INTERACTION:
Q8TCY5:MRAP; NbExp=2; IntAct=EBI-9538513, EBI-9538727;
-!- 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.
-!- POLYMORPHISM: MC1R variants associated with red hair and fair
skin, determine female-specific increased analgesia from kappa-
opioid receptor agonist [MIM:613098].
{ECO:0000269|PubMed:12663858}.
-!- 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. {ECO:0000269|PubMed:17434924,
ECO:0000269|PubMed:19338054}. Note=Disease susceptibility is
associated with variations affecting the gene represented in this
entry.
-!- SIMILARITY: Belongs to the G-protein coupled receptor 1 family.
{ECO:0000255|PROSITE-ProRule:PRU00521}.
-!- WEB RESOURCE: Name=SeattleSNPs;
URL="http://pga.gs.washington.edu/data/mc1r/";
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EMBL; X65634; CAA46588.1; -; Genomic_DNA.
EMBL; X67594; CAA47865.1; -; mRNA.
EMBL; AF153431; AAD41349.1; -; Genomic_DNA.
EMBL; AF153432; AAD41350.1; -; Genomic_DNA.
EMBL; AF153433; AAD41351.1; -; Genomic_DNA.
EMBL; AF153434; AAD41352.1; -; Genomic_DNA.
EMBL; AF153435; AAD41353.1; -; Genomic_DNA.
EMBL; AF153436; AAD41354.1; -; Genomic_DNA.
EMBL; AF153437; AAD41355.1; -; Genomic_DNA.
EMBL; AF326275; AAK01121.1; -; Genomic_DNA.
EMBL; AF263461; AAK58525.1; -; Genomic_DNA.
EMBL; AY046528; AAL05887.1; -; Genomic_DNA.
EMBL; AY046529; AAL05888.1; -; Genomic_DNA.
EMBL; AB241548; BAE94314.1; -; Genomic_DNA.
EMBL; AY363626; AAQ62976.1; -; Genomic_DNA.
EMBL; AY225228; AAO67713.1; -; Genomic_DNA.
EMBL; AF514787; AAM44861.1; -; Genomic_DNA.
EMBL; BC007856; AAH07856.1; -; mRNA.
EMBL; BC080622; AAH80622.1; -; mRNA.
CCDS; CCDS56011.1; -.
PIR; S29204; S29204.
RefSeq; NP_002377.4; NM_002386.3.
UniGene; Hs.513829; -.
UniGene; Hs.734194; -.
ProteinModelPortal; Q01726; -.
SMR; Q01726; -.
BioGrid; 110327; 12.
DIP; DIP-48789N; -.
IntAct; Q01726; 2.
STRING; 9606.ENSP00000451605; -.
BindingDB; Q01726; -.
ChEMBL; CHEMBL3795; -.
DrugBank; DB04931; Afamelanotide.
DrugBank; DB05479; CZEN 002.
GuidetoPHARMACOLOGY; 282; -.
iPTMnet; Q01726; -.
PhosphoSitePlus; Q01726; -.
SwissPalm; Q01726; -.
BioMuta; MC1R; -.
DMDM; 12644376; -.
PaxDb; Q01726; -.
PeptideAtlas; Q01726; -.
PRIDE; Q01726; -.
ProteomicsDB; 57984; -.
DNASU; 4157; -.
Ensembl; ENST00000555147; ENSP00000451605; ENSG00000258839.
Ensembl; ENST00000639847; ENSP00000492011; ENSG00000258839.
GeneID; 4157; -.
KEGG; hsa:4157; -.
CTD; 4157; -.
DisGeNET; 4157; -.
EuPathDB; HostDB:ENSG00000258839.2; -.
GeneCards; MC1R; -.
HGNC; HGNC:6929; MC1R.
MalaCards; MC1R; -.
MIM; 155555; gene.
MIM; 266300; phenotype.
MIM; 613098; phenotype.
MIM; 613099; phenotype.
neXtProt; NX_Q01726; -.
OpenTargets; ENSG00000258839; -.
Orphanet; 618; Familial melanoma.
Orphanet; 626; Large congenital melanocytic nevus.
Orphanet; 79432; Oculocutaneous albinism type 2.
PharmGKB; PA30673; -.
eggNOG; KOG3656; Eukaryota.
eggNOG; ENOG410XRW9; LUCA.
GeneTree; ENSGT00760000119061; -.
HOVERGEN; HBG108148; -.
InParanoid; Q01726; -.
KO; K04199; -.
TreeFam; TF332646; -.
Reactome; R-HSA-375276; Peptide ligand-binding receptors.
Reactome; R-HSA-418555; G alpha (s) signalling events.
SIGNOR; Q01726; -.
ChiTaRS; MC1R; human.
GeneWiki; Melanocortin_1_receptor; -.
GenomeRNAi; 4157; -.
PRO; PR:Q01726; -.
Proteomes; UP000005640; Chromosome 16.
Bgee; ENSG00000258839; Expressed in 132 organ(s), highest expression level in left lobe of thyroid gland.
ExpressionAtlas; Q01726; baseline and differential.
Genevisible; Q01726; HS.
GO; GO:0005887; C:integral component of plasma membrane; TAS:ProtInc.
GO; GO:0005622; C:intracellular; IEA:GOC.
GO; GO:0005886; C:plasma membrane; IDA:BHF-UCL.
GO; GO:0008528; F:G-protein coupled peptide receptor activity; TAS:BHF-UCL.
GO; GO:0004977; F:melanocortin receptor activity; TAS:ProtInc.
GO; GO:0004980; F:melanocyte-stimulating hormone receptor activity; IPI:BHF-UCL.
GO; GO:0031625; F:ubiquitin protein ligase binding; IPI:UniProtKB.
GO; GO:0007189; P:adenylate cyclase-activating G-protein coupled receptor signaling pathway; IDA:BHF-UCL.
GO; GO:0007186; P:G-protein coupled receptor signaling pathway; TAS:Reactome.
GO; GO:0007187; P:G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger; TAS:ProtInc.
GO; GO:0035556; P:intracellular signal transduction; ISS:BHF-UCL.
GO; GO:0007275; P:multicellular organism development; TAS:ProtInc.
GO; GO:0032720; P:negative regulation of tumor necrosis factor production; IMP:BHF-UCL.
GO; GO:0043473; P:pigmentation; TAS:BHF-UCL.
GO; GO:0010739; P:positive regulation of protein kinase A signaling; ISS:BHF-UCL.
GO; GO:0051897; P:positive regulation of protein kinase B signaling; ISS:BHF-UCL.
GO; GO:0090037; P:positive regulation of protein kinase C signaling; ISS:BHF-UCL.
GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; ISS:BHF-UCL.
GO; GO:0009650; P:UV protection; TAS:ProtInc.
GO; GO:0070914; P:UV-damage excision repair; IDA:BHF-UCL.
InterPro; IPR000276; GPCR_Rhodpsn.
InterPro; IPR017452; GPCR_Rhodpsn_7TM.
InterPro; IPR001671; Melcrt_ACTH_rcpt.
InterPro; IPR000761; MSH_rcpt.
PANTHER; PTHR22750:SF2; PTHR22750:SF2; 1.
Pfam; PF00001; 7tm_1; 1.
PRINTS; PR00237; GPCRRHODOPSN.
PRINTS; PR00534; MCRFAMILY.
PRINTS; PR00536; MELNOCYTESHR.
SMART; SM01381; 7TM_GPCR_Srsx; 1.
PROSITE; PS00237; G_PROTEIN_RECEP_F1_1; 1.
PROSITE; PS50262; G_PROTEIN_RECEP_F1_2; 1.
1: Evidence at protein level;
Cell membrane; Complete proteome; Disease mutation;
G-protein coupled receptor; Glycoprotein; Lipoprotein; Membrane;
Palmitate; Polymorphism; Receptor; Reference proteome; Transducer;
Transmembrane; Transmembrane helix.
CHAIN 1 317 Melanocyte-stimulating hormone receptor.
/FTId=PRO_0000069818.
TOPO_DOM 1 37 Extracellular. {ECO:0000255}.
TRANSMEM 38 63 Helical; Name=1. {ECO:0000255}.
TOPO_DOM 64 72 Cytoplasmic. {ECO:0000255}.
TRANSMEM 73 93 Helical; Name=2. {ECO:0000255}.
TOPO_DOM 94 118 Extracellular. {ECO:0000255}.
TRANSMEM 119 140 Helical; Name=3. {ECO:0000255}.
TOPO_DOM 141 163 Cytoplasmic. {ECO:0000255}.
TRANSMEM 164 183 Helical; Name=4. {ECO:0000255}.
TOPO_DOM 184 191 Extracellular. {ECO:0000255}.
TRANSMEM 192 211 Helical; Name=5. {ECO:0000255}.
TOPO_DOM 212 240 Cytoplasmic. {ECO:0000255}.
TRANSMEM 241 266 Helical; Name=6. {ECO:0000255}.
TOPO_DOM 267 279 Extracellular. {ECO:0000255}.
TRANSMEM 280 300 Helical; Name=7. {ECO:0000255}.
TOPO_DOM 301 317 Cytoplasmic. {ECO:0000255}.
LIPID 315 315 S-palmitoyl cysteine. {ECO:0000255}.
CARBOHYD 29 29 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
VARIANT 38 38 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; dbSNP:rs200050206).
{ECO:0000269|PubMed:19338054}.
/FTId=VAR_059018.
VARIANT 40 40 I -> T (associated with fair hair and
light skin; partial loss-of-function;
dbSNP:rs748138541).
{ECO:0000269|PubMed:11707265}.
/FTId=VAR_013611.
VARIANT 41 41 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).
{ECO:0000269|PubMed:17434924,
ECO:0000269|PubMed:19338054}.
/FTId=VAR_059019.
VARIANT 51 51 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; dbSNP:rs766080391).
{ECO:0000269|PubMed:19338054}.
/FTId=VAR_059020.
VARIANT 60 60 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; dbSNP:rs1805005).
{ECO:0000269|PubMed:10403794,
ECO:0000269|PubMed:17434924,
ECO:0000269|PubMed:18987736,
ECO:0000269|PubMed:9302268,
ECO:0000269|Ref.12}.
/FTId=VAR_013612.
VARIANT 67 67 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; dbSNP:rs34090186).
{ECO:0000269|PubMed:10101176,
ECO:0000269|PubMed:16463023}.
/FTId=VAR_009522.
VARIANT 84 84 D -> E (may be associated with a risk for
developing melanoma; reduced expression
at the cell surface; dbSNP:rs1805006).
{ECO:0000269|PubMed:10101176,
ECO:0000269|PubMed:15972726,
ECO:0000269|PubMed:8894704,
ECO:0000269|PubMed:8990005}.
/FTId=VAR_003507.
VARIANT 89 89 G -> R (in dbSNP:rs34540312).
/FTId=VAR_042654.
VARIANT 92 92 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; dbSNP:rs2228479).
{ECO:0000269|PubMed:10101176,
ECO:0000269|PubMed:16463023,
ECO:0000269|PubMed:17434924,
ECO:0000269|PubMed:18987736,
ECO:0000269|PubMed:8990005,
ECO:0000269|PubMed:9302268,
ECO:0000269|Ref.12}.
/FTId=VAR_003508.
VARIANT 93 93 L -> R (loss-of-function mutation
abolishing agonist binding).
{ECO:0000269|PubMed:12473109}.
/FTId=VAR_059021.
VARIANT 95 95 T -> M (in dbSNP:rs34158934).
/FTId=VAR_042655.
VARIANT 104 104 G -> S (in dbSNP:rs2229617).
/FTId=VAR_042656.
VARIANT 120 120 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; dbSNP:rs33932559).
{ECO:0000269|PubMed:16463023}.
/FTId=VAR_042657.
VARIANT 122 122 V -> M (associated with fair hair and
light skin; partial loss-of-function;
dbSNP:rs201192930).
{ECO:0000269|PubMed:11707265}.
/FTId=VAR_013613.
VARIANT 128 128 M -> T (in CMM5; complete absence of
functional coupling to the cAMP pathway;
trafficked to the cell surface but unable
to bind agonist efficiently;
dbSNP:rs374235260).
{ECO:0000269|PubMed:17434924,
ECO:0000269|PubMed:19338054}.
/FTId=VAR_059022.
VARIANT 142 142 R -> H (in dbSNP:rs11547464).
{ECO:0000269|PubMed:10403794,
ECO:0000269|PubMed:12473109}.
/FTId=VAR_059023.
VARIANT 147 147 Missing (associated with UV induced
susceptibility to skin damage;
unresponsive to NDP-MSH stimulation).
{ECO:0000269|PubMed:16463023}.
/FTId=VAR_042658.
VARIANT 151 151 R -> C (associated with red hair and
light skin of type I; binds to alpha-MSH
but cannot be stimulated to produce cAMP;
reduced expression at the cell surface;
dbSNP:rs1805007).
{ECO:0000269|PubMed:10101176,
ECO:0000269|PubMed:10403794,
ECO:0000269|PubMed:12473109,
ECO:0000269|PubMed:15972726,
ECO:0000269|PubMed:16463023,
ECO:0000269|PubMed:17952075,
ECO:0000269|PubMed:9302268,
ECO:0000269|PubMed:9571181,
ECO:0000269|Ref.12}.
/FTId=VAR_008522.
VARIANT 155 155 I -> T (associated with a risk for
developing melanoma; reduced expression
at the cell surface; dbSNP:rs1110400).
{ECO:0000269|PubMed:15489334,
ECO:0000269|PubMed:15972726,
ECO:0000269|PubMed:17434924,
ECO:0000269|Ref.12}.
/FTId=VAR_013614.
VARIANT 156 156 V -> L (in dbSNP:rs3212365).
{ECO:0000269|Ref.12}.
/FTId=VAR_013615.
VARIANT 157 157 T -> I (associated with UV induced
susceptibility to skin damage; shows a
dramatically decreased cAMP production to
NDP-MSH stimulation; dbSNP:rs104894524).
{ECO:0000269|PubMed:16463023}.
/FTId=VAR_042659.
VARIANT 159 159 P -> T (associated with UV induced
susceptibility to skin damage; shows a
strong decreased cAMP production to NDP-
MSH stimulation; dbSNP:rs104894523).
{ECO:0000269|PubMed:16463023}.
/FTId=VAR_042660.
VARIANT 160 160 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; reduced expression at the
cell surface; dbSNP:rs1805008).
{ECO:0000269|PubMed:10403794,
ECO:0000269|PubMed:15972726,
ECO:0000269|PubMed:17434924,
ECO:0000269|PubMed:9302268,
ECO:0000269|PubMed:9665397,
ECO:0000269|Ref.12}.
/FTId=VAR_008523.
VARIANT 162 162 R -> P. {ECO:0000269|PubMed:11442765}.
/FTId=VAR_013632.
VARIANT 163 163 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; dbSNP:rs885479).
{ECO:0000269|PubMed:10101176,
ECO:0000269|PubMed:16463023,
ECO:0000269|PubMed:17434924,
ECO:0000269|Ref.12}.
/FTId=VAR_009523.
VARIANT 166 166 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; dbSNP:rs35040147).
{ECO:0000269|PubMed:16463023}.
/FTId=VAR_042661.
VARIANT 171 171 A -> S (in dbSNP:rs35784916).
/FTId=VAR_042662.
VARIANT 196 196 F -> L (in dbSNP:rs3212366).
{ECO:0000269|Ref.12}.
/FTId=VAR_013616.
VARIANT 281 281 N -> S (functionally silent polymorphism;
does not affect receptor surface
expression, agonist binding and agonist-
induced signaling; dbSNP:rs141177570).
{ECO:0000269|PubMed:17434924,
ECO:0000269|PubMed:19338054}.
/FTId=VAR_059024.
VARIANT 289 289 C -> R (in CMM5; complete absence of
functional coupling to the cAMP pathway;
trafficked to the cell surface but unable
to bind agonist efficiently;
dbSNP:rs369542041).
{ECO:0000269|PubMed:19338054}.
/FTId=VAR_059025.
VARIANT 294 294 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; dbSNP:rs1805009).
{ECO:0000269|PubMed:10403794,
ECO:0000269|PubMed:17434924,
ECO:0000269|PubMed:7581459,
ECO:0000269|PubMed:9302268}.
/FTId=VAR_008524.
MUTAGEN 65 65 K->R: Only minor effect on
internalization rate and protein half-
life; when associated with R-226; R-238
and R-310. {ECO:0000269|PubMed:19737927}.
MUTAGEN 226 226 K->R: Only minor effect on
internalization rate and protein half-
life; when associated with R-65; R-238
and R-310. {ECO:0000269|PubMed:19737927}.
MUTAGEN 238 238 K->R: Only minor effect on
internalization rate and protein half-
life; when associated with R-65; R-226
and R-310. {ECO:0000269|PubMed:19737927}.
MUTAGEN 310 310 K->R: Only minor effect on
internalization rate and protein half-
life; when associated with R-65; R-226
and R-238. {ECO:0000269|PubMed:19737927}.
CONFLICT 90 90 S -> T (in Ref. 1 and 2). {ECO:0000305}.
CONFLICT 164 164 A -> R (in Ref. 3). {ECO:0000305}.
CONFLICT 222 222 A -> T (in Ref. 10; AAQ62976).
{ECO:0000305}.
SEQUENCE 317 AA; 34706 MW; CB67405A562C29B2 CRC64;
MAVQGSQRRL LGSLNSTPTA IPQLGLAANQ TGARCLEVSI SDGLFLSLGL VSLVENALVV
ATIAKNRNLH SPMYCFICCL ALSDLLVSGS NVLETAVILL LEAGALVARA AVLQQLDNVI
DVITCSSMLS SLCFLGAIAV DRYISIFYAL RYHSIVTLPR ARRAVAAIWV ASVVFSTLFI
AYYDHVAVLL CLVVFFLAML VLMAVLYVHM LARACQHAQG IARLHKRQRP VHQGFGLKGA
VTLTILLGIF FLCWGPFFLH LTLIVLCPEH PTCGCIFKNF NLFLALIICN AIIDPLIYAF
HSQELRRTLK EVLTCSW


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