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Q01726

- MSHR_HUMAN

UniProt

Q01726 - MSHR_HUMAN

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Protein

Melanocyte-stimulating hormone receptor

Gene

MC1R

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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. 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
Complete GO annotation...

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
Complete GO annotation...

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.
ExpressionAtlasiQ01726. baseline.
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. 11 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

        10         20         30         40         50
MAVQGSQRRL LGSLNSTPTA IPQLGLAANQ TGARCLEVSI SDGLFLSLGL
60 70 80 90 100
VSLVENALVV ATIAKNRNLH SPMYCFICCL ALSDLLVSGS NVLETAVILL
110 120 130 140 150
LEAGALVARA AVLQQLDNVI DVITCSSMLS SLCFLGAIAV DRYISIFYAL
160 170 180 190 200
RYHSIVTLPR ARRAVAAIWV ASVVFSTLFI AYYDHVAVLL CLVVFFLAML
210 220 230 240 250
VLMAVLYVHM LARACQHAQG IARLHKRQRP VHQGFGLKGA VTLTILLGIF
260 270 280 290 300
FLCWGPFFLH LTLIVLCPEH PTCGCIFKNF NLFLALIICN AIIDPLIYAF
310
HSQELRRTLK EVLTCSW
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. 11 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.
ExpressionAtlasi Q01726. baseline.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 158 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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