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melanocyte-stimulating hormone receptor; MSH-R; melanotropin receptor; melanocortin receptor 1; MC1-R (MC1R, MSHR)
Function:
- receptor for MSH-alpha, MSH-beta & MSH-gamma & ACTH
- activity is mediated by G proteins which activate adenylate cyclase
Structure:
- belongs to the G-protein coupled receptor 1 family
Compartment:
- cell membrane
Expression:
- expressed in melanocytes & corticoadrenal tissue
Polymorphism:
- 15 MC1R variants
- variations in MC1R are linked to
a) skin pigmentation
b) skin/hair/eye pigmentation type 2 (SHEP2)
c) variations in photoaging [3]
Related
melanocyte-stimulating hormone (MSH)
General
glycoprotein
melanocortin receptor
Properties
SIZE: entity length = 317 aa
MW = 35 kD
COMPARTMENT: cellular membrane
MOTIF: exoplasmic domain {1-37}
MOTIF: N-glycosylation site {N29}
transmembrane domain {38-63}
cytoplasmic loop {64-72}
transmembrane domain {73-93}
exoplasmic loop {94-118}
transmembrane domain {119-140}
cytoplasmic loop {141-163}
transmembrane domain {164-183}
exoplasmic loop {184-191}
transmembrane domain {192-211}
cytoplasmic loop {212-240}
transmembrane domain {241-266}
exoplasmic loop {267-279}
transmembrane domain {280-300}
cytoplasmic domain {301-317}
MOTIF: cysteine residue {C315}
MODIFICATION: palmitate
COMPARTMENT: membrane
Database Correlations
OMIM correlations
MORBIDMAP 155555
UniProt Q01726
Pfam PF00001
Entrez Gene 4157
Kegg hsa:4157
References
- UniProt :accession Q01726
- SeattleSNPs
http://pga.gs.washington.edu/data/mc1r/
- Elfakir A et al.
Functional MC1R-gene variants are associated with increased
risk for severe photoaging in facial skin.
J Invest Dermatol 2010 Apr; 130:1107.
PMID: 19924138