Version 5.4
Homo sapiens Gene: MC1R
Summary
InnateDB Gene IDBG-547250.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MC1R
Gene Name melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
Synonyms CMM5; MSH-R; SHEP2
Species Homo sapiens
Ensembl Gene ENSG00000258839
Encoded Proteins
IDBP-598603
Melanocyte-stimulating hormone receptor
IDBP-589302
melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH). The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis. Two types of melanin exist: red pheomelanin and black eumelanin. Gene mutations that lead to a loss in function are associated with increased pheomelanin production, which leads to lighter skin and hair color. Eumelanin is photoprotective but pheomelanin may contribute to UV-induced skin damage by generating free radicals upon UV radiation. Binding of MSH to its receptor activates the receptor and stimulates eumelanin synthesis. This receptor is a major determining factor in sun sensitivity and is a genetic risk factor for melanoma and non-melanoma skin cancer. Over 30 variant alleles have been identified which correlate with skin and hair color, providing evidence that this gene is an important component in determining normal human pigment variation. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:89912119-89920977
Strand Forward strand
Band q24.3
Transcripts
ENST00000539976
ENST00000555427 ENSP00000451760
ENST00000555147 ENSP00000451605
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 13 [view]
Protein-Protein 13 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004930 G-protein coupled receptor activity
GO:0004977 melanocortin receptor activity
GO:0004980 melanocyte-stimulating hormone receptor activity
GO:0005515 protein binding
GO:0008528 G-protein coupled peptide receptor activity
GO:0031625 ubiquitin protein ligase binding
GO:0042562 hormone binding
Biological Process
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007187 G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger
GO:0007275 multicellular organismal development
GO:0009650 UV protection
GO:0010739 positive regulation of protein kinase A signaling
GO:0019233 sensory perception of pain
GO:0030819 positive regulation of cAMP biosynthetic process
GO:0032720 negative regulation of tumor necrosis factor production
GO:0035556 intracellular signal transduction
GO:0042438 melanin biosynthetic process
GO:0043473 pigmentation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0051897 positive regulation of protein kinase B signaling
GO:0060259 regulation of feeding behavior
GO:0070914 UV-damage excision repair
GO:0090037 positive regulation of protein kinase C signaling
GO:2000253 positive regulation of feeding behavior
Cellular Component
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000074037
View Gene Order
ENSBTAG00000023731
Not yet available
Pathways
NETPATH
REACTOME
REACT_19327
G alpha (s) signalling events pathway
REACT_14819
Peptide ligand-binding receptors pathway
REACT_14828
Class A/1 (Rhodopsin-like receptors) pathway
REACT_14797
Signaling by GPCR pathway
REACT_111102
Signal Transduction pathway
REACT_19184
GPCR downstream signaling pathway
REACT_21340
GPCR ligand binding pathway
KEGG
hsa04080
Neuroactive ligand-receptor interaction pathway
hsa04916
Melanogenesis pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL G3V4F0 V9Q8F1
UniProt Splice Variant
Entrez Gene 4157
UniGene Hs.513829 Hs.657523 Hs.734194
RefSeq NM_002386
HUGO HGNC:6929
OMIM 155555
CCDS CCDS56011
HPRD 01118
IMGT
EMBL AC092143 KC982213
GenPept AHC09974
RNA Seq Atlas 4157

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca