MC1R
entrez
4157
canonical
uniprot
Q01726
canonical
ensembl
ENSG00000258839
resolver
ensp
ENSP00000451605
resolver
ensp
ENSP00000492011
resolver
ensp
ENSP00000598328
resolver
enst
ENST00000555147
resolver
enst
ENST00000639847
resolver
enst
ENST00000928269
resolver
genesymbol
MC1R
resolver
genesymbol_syn
MSHR
resolver
hgnc
HGNC:6929
resolver
uniprot
Q1JUL4
resolver
uniprot
Q66K38
resolver
uniprot
Q6UR93
resolver
uniprot
Q8WWX6
resolver
uniprot
Q8WWX7
resolver
uniprot
Q96I33
resolver
uniprot
Q96RU4
resolver
uniprot
Q9UBF7
resolver
uniprot
Q9UN58
resolver
uniprot
Q9UN59
resolver
uniprot
Q9UN60
resolver
uniprot
Q9UN61
resolver
uniprot
Q9UN62
resolver
uniprot_entry
MSHR_HUMAN
resolver
uniprot_entry
Q1JUL4_HUMAN
resolver
uniprot_sec
Q66K38
resolver
uniprot_sec
Q6UR93
resolver
uniprot_sec
Q8WWX6
resolver
uniprot_sec
Q8WWX7
resolver
uniprot_sec
Q96I33
resolver
uniprot_sec
Q96RU4
resolver
uniprot_sec
Q9UBF7
resolver
uniprot_sec
Q9UN58
resolver
uniprot_sec
Q9UN59
resolver
uniprot_sec
Q9UN60
resolver
uniprot_sec
Q9UN61
resolver
uniprot_sec
Q9UN62
resolver
amino_acid_sequence
MAVQGSQRRLLGSLNSTPTAIPQLGLAANQTGARCLEVSISDGLFLSLGLVSLVENALVVATIAKNRNLHSPMYCFICCLALSDLLVSGSNVLETAVILLLEAGALVARAAVLQQLDNVIDVITCSSMLSSLCFLGAIAVDRYISIFYALRYHSIVTLPRARRAVAAIWVASVVFSTLFIAYYDHVAVLLCLVVFFLAMLVLMAVLYVHMLARACQHAQGIARLHKRQRPVHQGFGLKGAVTLTILLGIFFLCWGPFFLHLTLIVLCPEHPTCGCIFKNFNLFLALIICNAIIDPLIYAFHSQELRRTLKEVLTCSW
uniprot
proteins
disease_involvement
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 may also involve other sites. {ECO:0000269|PubMed:17434924, ECO:0000269|PubMed:19338054}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: G protein-coupled receptor that binds melanocyte-stimulating hormones (alpha, beta, and gamma-MSH) and adrenocorticotropic hormone/ACTH, which are peptide products of the POMC precursor protein (PubMed:11442765, PubMed:11707265, PubMed:1325670, PubMed:1516719, PubMed:8463333). Upon activation, MC1R couples with the G(s) protein, stimulating adenylate cyclase and activating the cAMP-dependent signaling pathway. This activation promotes melanogenesis, resulting in the production of eumelanin (black/brown) and pheomelanin (red/yellow) in melanocytes (PubMed:11707265, PubMed:1325670, PubMed:16463023, PubMed:19737927, PubMed:31097585, PubMed:34453129). MC1R interacts with G protein-coupled receptor opsin 3/OPN3, which couples to G(i) proteins and inhibits the alpha-MSH-induced cAMP response, thereby reducing melanin synthesis (PubMed:31097585). Binding to Agouti/ASP precludes alpha-MSH-induced signaling, thereby down-regulating melanogenesis (By similarity). Additionally, interaction with MGRN1 displaces the G(s) protein, further suppressing MC1R signaling (PubMed:19737927). {ECO:0000250|UniProtKB:Q01727, ECO:0000269|PubMed:11442765, ECO:0000269|PubMed:11707265, ECO:0000269|PubMed:1325670, ECO:0000269|PubMed:1516719, ECO:0000269|PubMed:16463023, ECO:0000269|PubMed:19737927, ECO:0000269|PubMed:31097585, ECO:0000269|PubMed:34453129, ECO:0000269|PubMed:8463333}.
uniprot
proteins
mass_dalton
34706
uniprot
proteins
mutagenesis
MUTAGEN 65; /note="K->R: Only minor effect on internalization rate and protein half-life; when associated with R-226; R-238 and R-310."; /evidence="ECO:0000269|PubMed:19737927"; MUTAGEN 94; /note="E->A: Decreased alpha-MSH binding affinity and cAMP response upon alpha-MSH activation."; /evidence="ECO:0000269|PubMed:34453129"; MUTAGEN 117; /note="D->A: Decreased alpha-MSH binding affinity and cAMP response upon alpha-MSH activation."; /evidence="ECO:0000269|PubMed:34453129"; MUTAGEN 121; /note="D->A: Decreased alpha-MSH binding affinity and cAMP response upon alpha-MSH activation."; /evidence="ECO:0000269|PubMed:34453129"; MUTAGEN 150; /note="L->A: Loss of coupling ability to G(s) and decreased cAMP response upon alpha-MSH activation."; /evidence="ECO:0000269|PubMed:34453129"; MUTAGEN 226; /note="K->R: Only minor effect on internalization rate and protein half-life; when associated with R-65; R-238 and R-310."; /evidence="ECO:0000269|PubMed:19737927"; MUTAGEN 238; /note="K->R: Only minor effect on internalization rate and protein half-life; when associated with R-65; R-226 and R-310."; /evidence="ECO:0000269|PubMed:19737927"; MUTAGEN 260; /note="H->A: Decreased alpha-MSH binding affinity and cAMP response upon alpha-MSH activation."; /evidence="ECO:0000269|PubMed:34453129"; MUTAGEN 267; /note="C->A: Impaired alpha-MSH binding affinity and cAMP response upon alpha-MSH activation, when associated with A-273."; /evidence="ECO:0000269|PubMed:34453129"; MUTAGEN 273; /note="C->A: Impaired alpha-MSH binding affinity and cAMP response upon alpha-MSH activation, when associated with A-267."; /evidence="ECO:0000269|PubMed:34453129"; MUTAGEN 294; /note="D->A: Impaired cAMP response upon alpha-MSH activation."; /evidence="ECO:0000269|PubMed:34453129"; MUTAGEN 304; /note="E->A: Impaired cAMP response upon alpha-MSH activation, when associated with A-307."; /evidence="ECO:0000269|PubMed:34453129"; MUTAGEN 307; /note="R->A: Impaired cAMP response upon alpha-MSH activation, when associated with A-304."; /evidence="ECO:0000269|PubMed:34453129"; MUTAGEN 310; /note="K->R: Only minor effect on internalization rate and protein half-life; when associated with R-65; R-226 and R-238."; /evidence="ECO:0000269|PubMed:19737927
uniprot
proteins
protein_family
G protein-coupled receptor 1 family
uniprot
proteins
pubmed
10101176
uniprot
proteins
pubmed
10403794
uniprot
proteins
pubmed
11442765
uniprot
proteins
pubmed
11707265
uniprot
proteins
pubmed
11750130
uniprot
proteins
pubmed
12473109
uniprot
proteins
pubmed
12663858
uniprot
proteins
pubmed
1325670
uniprot
proteins
pubmed
1516719
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15972726
uniprot
proteins
pubmed
16463023
uniprot
proteins
pubmed
17434924
uniprot
proteins
pubmed
17952075
uniprot
proteins
pubmed
18987736
uniprot
proteins
pubmed
19338054
uniprot
proteins
pubmed
19737927
uniprot
proteins
pubmed
28501589
uniprot
proteins
pubmed
31097585
uniprot
proteins
pubmed
34453129
uniprot
proteins
pubmed
7581459
uniprot
proteins
pubmed
8463333
uniprot
proteins
pubmed
8706868
uniprot
proteins
pubmed
8894704
uniprot
proteins
pubmed
8990005
uniprot
proteins
pubmed
9302268
uniprot
proteins
pubmed
9571181
uniprot
proteins
pubmed
9640562
uniprot
proteins
pubmed
9665397
uniprot
proteins
sequence_length
317
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:31097585}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 42..61; /note="Helical; Name=1"; /evidence="ECO:0000269|PubMed:34453129, ECO:0007744|PDB:7F4D"; TRANSMEM 76..100; /note="Helical; Name=2"; /evidence="ECO:0000269|PubMed:34453129, ECO:0007744|PDB:7F4D"; TRANSMEM 114..140; /note="Helical; Name=3"; /evidence="ECO:0000269|PubMed:34453129, ECO:0007744|PDB:7F4D"; TRANSMEM 163..183; /note="Helical; Name=4"; /evidence="ECO:0000269|PubMed:34453129, ECO:0007744|PDB:7F4D"; TRANSMEM 187..209; /note="Helical; Name=5"; /evidence="ECO:0000269|PubMed:34453129, ECO:0007744|PDB:7F4D"; TRANSMEM 239..263; /note="Helical; Name=6"; /evidence="ECO:0000269|PubMed:34453129, ECO:0007744|PDB:7F4D"; TRANSMEM 279..301; /note="Helical; Name=7"; /evidence="ECO:0000269|PubMed:34453129, ECO:0007744|PDB:7F4D
uniprot
proteins