Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Mc1r. (This text reflects annotations as of Wednesday, January 23, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Mc1r
  • participates in the following biological processes:
    • G-protein coupled receptor signaling pathway ^{[2, 5]}
    • intracellular protein kinase cascade ^[5]
    • positive regulation of protein kinase A signaling cascade ^[5]
    • positive regulation of protein kinase B signaling cascade ^[5]
    • positive regulation of protein kinase C signaling cascade ^[5]
    • positive regulation of transcription from RNA polymerase II promoter ^[5]
  • performs the following molecular functions:
    • melanocortin receptor activity ^[5]
    • melanocyte-stimulating hormone receptor activity ^[2]
• The gene product of Mc1r has been shown to bind to the gene products of a. ^[2]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Mc1r
  • participates in the following biological processes:
    • melanin biosynthetic process ^[4]
    • pigmentation ^[1]
    • sensory perception of pain ^[3]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Mc1r:
  • participates in the following biological processes:
    • negative regulation of tumor necrosis factor production
    • positive regulation of cAMP biosynthetic process
    • UV-damage excision repair
  • performs the following molecular functions:
    • melanocyte-stimulating hormone receptor activity
    • ubiquitin protein ligase binding
  • is located in the following cellular components:
    • cytoplasm
    • microtubule cytoskeleton
    • plasma membrane

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Summary text based on GO annotations supported by structural data

• Mc1r encodes a protein or proteins that contain the following InterPro domains: GPCR, rhodopsin-like, GPCR, rhodopsin-like, 7TM, Melanocortin/ACTH receptor, Melanocyte-stimulating hormone receptor, indicating that the gene product:
  • is located in the following cellular components:
    • integral to membrane

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Mc1r indicates that it:
  • participates in the following biological processes:
    • signal transduction
  • performs the following molecular functions:
    • G-protein coupled receptor activity
    • signal transducer activity
  • is located in the following cellular components:
    • integral to membrane
    • membrane

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References

1. British Society of Audiology short papers meeting on experim et al. (1997) Analysis of the deaf mouse mutant, whirler. Br J Audiol, 31:73-132 (84-5 Abstr.). (PubMed:9183385)
2. Kiefer LL et al. (1998) Melanocortin receptor binding determinants in the agouti protein. Biochemistry, 37:991-7. (PubMed:9454589)
3. Mogil JS et al. (2003) The melanocortin-1 receptor gene mediates female-specific mechanisms of analgesia in mice and humans. Proc Natl Acad Sci U S A, 100:4867-72. (PubMed:12663858)
4. Ozeki H et al. (1995) Chemical characterization of hair melanins in various coat-color mutants of mice. J Invest Dermatol, 105:361-6. (PubMed:7665913)
5. Smith AG et al. (2008) Melanocortin-1 receptor signaling markedly induces the expression of the NR4A nuclear receptor subgroup in melanocytic cells. J Biol Chem, 283:12564-70. (PubMed:18292087)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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