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melanocortin receptor 4; MC4-R (MC4R)
Function:
- receptor specific to the heptapeptide core common to ACTH & alpha-MSH, beta-MSH, & gamma-MSH
- signal is mediated by G proteins that stimulate adenylate cyclase
- interacts with ATRNL1 (putative)
- involved in hypothalamic signal transduction regulating appetite & response to leptin
Structure: belongs to the G-protein coupled receptor 1 family
Compartment: cell membrane
Expression: brain, placental, & gut tissues
Pathology:
- MC4R gene mutation is the most common cause of autosomal dominant obesity [4]
General
glycoprotein
melanocortin receptor
Properties
SIZE: entity length = 332 aa
MW = 37 kD
COMPARTMENT: cellular membrane
MOTIF: exoplasmic domain {1-43}
MOTIF: N-glycosylation site {N3}
N-glycosylation site {N17}
N-glycosylation site {N26}
transmembrane domain {44-69}
cytoplasmic loop {70-81}
transmembrane domain {82-106}
exoplasmic loop {107-123}
transmembrane domain {124-145}
cytoplasmic loop {146-165}
transmembrane domain {166-186}
exoplasmic loop {187-191}
transmembrane domain {192-215}
cytoplasmic loop {216-248}
transmembrane domain {249-271}
exoplasmic loop {272-280}
transmembrane domain {281-304}
cytoplasmic domain {305-332}
MOTIF: cysteine residue {C318}
MODIFICATION: palmitate
COMPARTMENT: membrane
Database Correlations
OMIM correlations
MORBIDMAP 155541
UniProt P32245
Pfam PF00001
Entrez Gene 4160
Kegg hsa:4160
References
- UniProt :accession P32245
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=MC4R
- Wikipedia; melanocortin receptor entry
http://en.wikipedia.org/wiki/melanocortin_receptor
- NEJM Knowledge+ Endocrinology