| Predicate | Object |
|---|---|
| rdf:type | |
| http://www.biopax.org/relea... |
cpath:CPATH-LOCAL-425620,
cpath:CPATH-LOCAL-425621,
cpath:CPATH-LOCAL-425622,
cpath:CPATH-LOCAL-425623,
cpath:CPATH-LOCAL-425624,
cpath:CPATH-LOCAL-425625,
cpath:CPATH-LOCAL-425626,
cpath:CPATH-LOCAL-425627,
cpath:CPATH-LOCAL-425628,
cpath:CPATH-LOCAL-425629,
cpath:CPATH-LOCAL-425630,
cpath:CPATH-LOCAL-425631,
cpath:CPATH-LOCAL-425632,
cpath:CPATH-LOCAL-425633,
cpath:CPATH-LOCAL-425634,
cpath:CPATH-LOCAL-427526
|
| http://www.biopax.org/relea... |
Melanocyte-stimulating hormone receptor
|
| http://www.biopax.org/relea... |
MSHR_HUMAN
|
| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
MC1-R,
MSH-R,
Melanocortin receptor 1
|
| http://www.biopax.org/relea... |
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 ubiquination; this interaction competes with GNAS-binding and thus inhibits agonist-induced cAMP production. SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Melanocytes and corticoadrenal tissue. POLYMORPHISM: Genetic variations in MC1R are associated with variation in skin/hair/eye pigmentation type 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]. DISEASE: Genetic variations in MC1R are a cause of susceptibility to cutaneous malignant melanoma type 5 (CMM5) [MIM:613099]. Malignant melanoma is 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. SIMILARITY: Belongs to the G-protein coupled receptor 1 family. WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/mc1r/"; GENE SYNONYMS: MSHR. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
|
| skos:exactMatch | |
| skos:closeMatch |