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General Information
| Gene_Symbol | Gene_ID | Gene_Name | Chromosome | Alias |
|---|---|---|---|---|
| MC1R | 4157 | Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) | 16 | CMM5; MSH-R; SHEP2 |
- Evidence
- Gene
- mRNA
- CDS
- Protein
- PTM
- Enzyme
- PPi
- Pathway
- Structural
- Domain
- Ontology
- SNP
- Drug
- External Links
Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 22968445 | 2012 | Cell line : - Source : Department of Pathology of Wrocaw Medical University. Sample Type : - No. of Sample : - Stage : - | Laser capture microdissection,FFPE-FASP,SAX fractionation,LC-MSMS,Label-free quantitation. | Up-regulation | 9.6 | - |
Gene Details
| Gene Type | protein coding |
|---|---|
| Gene Family | GPCR / Class A : Melanocortin receptors |
| Description | 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] | Chromosome | 16 |
| Location | 16q24.3 |
| Start | 89917879 |
| End | 89920977 |
| Strand | + |
| Gene Sequence | Download Select all |
| Length | 3099 |
| OMIM ID | 155555 |
| HGNC ID | HGNC:6929 |
| Unigene ID | Hs.513829 |
| Ensembl ID | ENSG00000258839 |
| PharmGKB ID | - |
Protein Information
| Protein ID | NP_002377.4 |
|---|---|
| Protein Name | Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) |
| Molecular Wt. (Da) | 34575 |
| Protein Sequence | Download Select all |
| Length | 317 |
| Uniprot ID | P46527 |
| Ensembl Protein ID | ENSP00000228872 |
Post-translational Modification Information (Source : HPRD)
No matching records could be found.
Enzyme Information
No matching records could be found.
PPi Information
(Click to view network : Source STRING) View
| Interactant Gene ID (Source: HPRD) | Gene Symbol | HPRD ID | Ref Seq ID | Technique | References |
|---|---|---|---|---|---|
| 4160 | MC4R | 1116 | NP_005903.2 | in vitro;in vivo | 12165561 |
| 5443 | POMC | 1462 | NP_000930.1 | in vivo | 1 094 257 811 041 370 |
Pathway Information
| Pathway Name | Pathway ID |
|---|---|
| Melanogenesis | hsa04916 |
| Neuroactive ligand-receptor interaction | hsa04080 |
Structure Information
No matching records could be found.
Domain Information
| ID | Location | Description |
|---|---|---|
| pfam10328 | 46-203 | 7TM_GPCR_Srx |
| cl21561 | 46-203 | 7tm_4 superfamily |
| pfam00001 | 61-298 | 7tm_1 |
| PHA03087 | 130-313 | PHA03087 |
Ontology Information
| HPRD ID | 2696 |
|---|---|
| Molecular Class | Cell surface receptor |
| Molecular Function | Kinase regulator activity (GO:0019207) |
| Biological Process | Cell communication (GO:0007154); Signal transduction (GO:0007165) |
Drug Information
No matching records could be found.