Recombinant Human Melanocyte-stimulating hormone receptor(MC1R)

Code CSB-CF086369HU
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Product Details

Purity Greater than 85% as determined by SDS-PAGE.
Target Names MC1R
Uniprot No. Q01726
Research Area Others
Alternative Names CMM5; MC1 Receptor; MC1-R; MC1R; Melanocortin 1 receptor ; Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor); Melanocortin receptor 1; Melanocyte-stimulating hormone receptor; Melanotropin receptor; MSH-R; MSHR; MSHR_HUMAN; SHEP2
Species Homo sapiens (Human)
Source in vitro E.coli expression system
Expression Region 1-317aa
Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
Protein Length Full Length
Tag Info N-terminal 10xHis-tagged
Form Liquid or Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
Note: If you have any special requirement for the glycerol content, please remark when you place the order.
If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
and FAQs
Protein FAQs
Storage Condition Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
Notes Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet & COA Please contact us to get it.

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Target Background

Receptor for MSH (alpha, beta and gamma) and ACTH. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Mediates melanogenesis, the production of eumelanin (black/brown) and phaeomelanin (red/yellow), via regulation of cAMP signaling in melanocytes.
Gene References into Functions
  1. the association between particular MC1R alleles and the risk of skin cancers, was investigated. PMID: 29968341
  2. there is an association between TERT promoter mutations and MC1R variants in melanoma patients PMID: 27930874
  3. with regard to cutaneous malignant melanoma risk, no association found in the combination of GSTP1 Ile105Val with MC1R RHC-variant alleles [meta-analysis] PMID: 27304781
  4. In familial melanoma patients, the presence of MC1R R variants was associated with an increased prevalence of environmental risk factors and features associated with UV radiation-induced damage. PMID: 29405243
  5. In melanomas and for somatic C>T mutations, a signature linked to sun exposure, the expected single-nucleotide variant count associated with the presence of an R allele is estimated to be 42% (95% CI, 15-76%) higher than that among persons without an R allele. PMID: 27403562
  6. These data clearly show a new and hitherto unsuspected role for MC1R in noncutaneous solid tissues before birth. PMID: 29316344
  7. In both melanoma cell lines, alphaMSH determined the reduction of proliferation through the PI(4,5)P2/PLC pathway, employing PPARgamma as an effector element. These evidence could offer perspectives for new therapeutic approaches for melanoma. PMID: 29020973
  8. Carriage of any MC1R variant, one variant and two or more variants, compared with not having such variants was significantly associated with fair hair color, skin type I/II, and presence of freckles. PMID: 27251790
  9. key molecular events driving MC1R-mediated enhancement of genome maintenance and MC1R-induced pigment induction in melanocytes are distinct PMID: 28094871
  10. amino acid residue 128 in Transmembrane 3 (TM3) of MC1R, or amino acid residue L133 in TM3 of the MC4R, play crucial roles in ligand des-Trp(9)-NDP-alpha-MSH selectivity at MC1R or MC4R. PMID: 28579117
  11. In a heterologous expression system, MC1R-dependent Arrestins B ubiquitination was enhanced by overexpression of MGRN1 and was impaired by siRNA-mediated MGRN1 knockdown thus pointing to MGRN1 as the responsible E3-ligase. PMID: 28947386
  12. POMC and MC1R were significantly lower in vitiligo lesional skin than in non-lesional skin as well as in controls and they were significantly higher in non-lesional skin than in the skin of the controls. PMID: 26437741
  13. MC1R gene could modify the age of onset in Spanish Huntington's disease patients. PMID: 27924526
  14. results highlight a central role for MC1R palmitoylation in pigmentation and protection against melanoma PMID: 28869973
  15. MC1R variant p.V92M (rs2228479) was present in 72 (14%) patients and 15 (9%) controls and confers increased risk of developing late-onset Alzheimer's disease, especially in those patients whose genetic risk could not be explained by APOE genotype. This association remains and even increased in the subset of 69 patients with typical AD cerebrospinal fluid profile. No association was found between p.V92M and age of onset. PMID: 28059796
  16. MC1RR163Q is associated with a lower risk of complicated sepsis after trauma. Therapeutic targeting of MC1R may be beneficial for trauma patients at risk for complicated sepsis PMID: 27488084
  17. This study evaluated the association of perceived facial age with multiple single nucleotide polymorphisms in the MC1R gene. PMID: 27133870
  18. MC1R-positive basophils are present exclusively in the nasal mucosa of those AR patients who had undergone nasal allergen provocation 24 h before. PMID: 27196703
  19. MC1R genotype is associated with patient phenotypes with BRAF and NRAS mutations in melanoma PMID: 28842324
  20. MC1R mutation is associated with Melanoma. PMID: 28024115
  21. Melanocortin-1 receptor variants are associated with high melanoma risk. PMID: 27540956
  22. It was suggested to be involved in Parkinson disease (PD) and melanoma, but its genetic variants do not play roles in susceptibility for Parkinson disease or rapid eye movement sleep behavior disorder. PMID: 27131830
  23. Variants in MC1R do not play a major role in PD in the Chinese population. PMID: 27084066
  24. Latin American families had CDKN2A mutations more frequently (P = 0.014) than Spanish ones. Of patients with SMP, 10% of those from Latin America and 8.5% of those from Spain had mutations in CDKN2A (P = 0.623). The most recurrent CDKN2A mutations were c.-34G>T and p.G101W. Latin American patients had fairer hair and skin) and a higher prevalence of MC1R variants compared with Spanish ones PMID: 26681309
  25. MC1R genetic effects might contribute to sex-specific differences in skin phototype PMID: 27637409
  26. MC1R may represent a common pathogenic pathway for melanoma and Parkinson disease. PMID: 28019657
  27. Carriers of MC1R variants were at increased melanoma risk independent of their sun exposure. PMID: 27050141
  28. This study confirms the presence of CDKN2A and MC1R variants among Cypriot melanomas and supports existing evidence of a role for these variants in susceptibility to melanoma. PMID: 28360400
  29. Presence of MC1R variant alleles predicted higher levels of dental fear and fear of pain. Importantly, fear of pain mediated the relation between MC1R variant status and dental fear. PMID: 27555332
  30. this case-control genetic association study using Taiwanese population showed that certain linkage disequilibrium structure of MC1R is strongly associated with vitiligo PMID: 26670452
  31. Case Report: MC4R p.Met215del coexisting with FTO and MC1R gene variants, causes severe early onset obesity. PMID: 27394708
  32. MC1R status is associated with BRAF(V600E), BRAF(V600K), and NRAS mutations in cutaneous melanomas PMID: 26807515
  33. Study found that HBD2 bound tightly to Mc1r with an affinity similar to that of HBD3 PMID: 26536271
  34. Six MC1R mutations segregated with the phenotype in seven families, including a p.Val174del in-frame deletion and a p.Tyr298* nonsense mutation, that were analyzed for function in heterologous HEK293 cells. PMID: 26197705
  35. Even after taking into account potential confounding effects of MC1R genotype and various lifestyle factors that close relatives may share, family history of skin cancer remained strongly associated with early-onset basal cell carcinoma PMID: 26381319
  36. Woman who carried a deleterious CDKN2A mutation and was also homozygous for the MC1R variant allele R160W developed 20 cutaneous melanomas in her lifetime. PMID: 26103950
  37. The pattern of sequence diversity here does not support a model of strong selective constraint on MC1R in Northern Island Melanesia. PMID: 26482799
  38. Functional characterization of MC1R-TUBB3 intergenic splice variants of the human melanocortin 1 receptor has been undertaken in response to ultraviolet irradiation. PMID: 26657157
  39. none of the three variants of the MC1R gene and related haplotypes be associated with sporadic form of Parkinson disease in Chinese Han population from Mainland China. PMID: 26628245
  40. MC1R genotype is a risk factor for the development of BCC in Greek patients independently of pigmentary characteristics, and the combination of MC1R variants may modulate this risk. PMID: 25809071
  41. Interestingly, we observed an increased risk of melanoma in subjects with darker skin and lower nevus count, usually considered at low risk, when carrying melanocortin 1 receptor polymorphisms. PMID: 25736238
  42. MC2R and MC1R signals are consecutively required for the regulation of EPO signal transduction in erythroblast differentiation, and MC5R signal transduction is required to induce enucleation. PMID: 25860801
  43. MC1-signaling protects against cartilage degradation and subchondral bone sclerosis in OA indicating a beneficial role of the POMC system in joint pathophysiology. PMID: 25191747
  44. The presence of two common variants of MC1R was identified as a risk factor for severe photoaging. PMID: 26067307
  45. ASIP diminishes agonist-independent MC1R basal signaling whereas HBD3 is a neutral MC1R antagonist that blocks activation by melanocortins. PMID: 26168232
  46. the inhibitory effects of alpha-MSH on inflammation are dependent on MC-1 R PMID: 25898835
  47. Our results suggest inherited variation in MC1R may play an influential role in anatomic site presentation of melanomas and may differ with respect to skin pigmentation phenotype. PMID: 25790105
  48. The computational analysis proved capable of identifying the potentially damaging non-synonymous single nucleotide polymorphisms in MC1R. PMID: 25794181
  49. MC1R mutations in this series demonstrated and inverse association for head and neck melanomas. PMID: 25385688
  50. MC1R polymorphism is associated in patients with pot-burn hypertrophic scarring. PMID: 26030184

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Involvement in disease Melanoma, cutaneous malignant 5 (CMM5)
Subcellular Location Cell membrane; Multi-pass membrane protein.
Protein Families G-protein coupled receptor 1 family
Tissue Specificity Expressed in melanocytes. Expressed in corticoadrenal tissue.
Database Links

HGNC: 6929

OMIM: 155555

KEGG: hsa:4157

STRING: 9606.ENSP00000451605

UniGene: Hs.513829

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