• Gene id: 4157

Gene Summary

• Gene Symbol: MC1R   Gene   UCSC   Ensembl
• Aliases: CMM5, MSH-R, SHEP2
• Gene name: melanocortin 1 receptor
• Alternate names: melanocyte-stimulating hormone receptor, MC1-R, alpha melanocyte stimulating hormone receptor, melanotropin receptor,
• Gene location: 16q24.3 (89918861: 89920971)     Exons: 1     NC_000016.10
• Gene summary(Entrez): 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
• OMIM: 608058

Protein Summary

• Protein general information: Q01726  
  • Name: Melanocyte stimulating hormone receptor (MSH R) (Melanocortin receptor 1) (MC1 R)
  • Length: 317  
  • Mass: 34706
  • Tissue specificity: Melanocytes and corticoadrenal tissue.
• Sequence:

  MAVQGSQRRLLGSLNSTPTAIPQLGLAANQTGARCLEVSISDGLFLSLGLVSLVENALVVATIAKNRNLHSPMYC
  FICCLALSDLLVSGSNVLETAVILLLEAGALVARAAVLQQLDNVIDVITCSSMLSSLCFLGAIAVDRYISIFYAL
  RYHSIVTLPRARRAVAAIWVASVVFSTLFIAYYDHVAVLLCLVVFFLAMLVLMAVLYVHMLARACQHAQGIARLH
  KRQRPVHQGFGLKGAVTLTILLGIFFLCWGPFFLHLTLIVLCPEHPTCGCIFKNFNLFLALIICNAIIDPLIYAF
  HSQELRRTLKEVLTCSW

• Structural information:
  • Interpro: IPR000276  IPR017452  IPR001671  IPR000761  
  • Prosite: PS00237 PS50262
  • DIP: 48789
  • STRING: ENSP00000451605
• Other Databases: GeneCards:  MC1R  Malacards:  MC1R

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004980	melanocyte-stimulating hormone receptor activity	IBA	molecular function
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA	biological process
GO:0019222	regulation of metabolic process	IBA	biological process
GO:0004930	G protein-coupled receptor activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0004977	melanocortin receptor activity	IEA	molecular function
GO:0004980	melanocyte-stimulating hormone receptor activity	IEA	molecular function
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0004977	melanocortin receptor activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007275	multicellular organism development	TAS	biological process
GO:0007187	G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	TAS	biological process
GO:0009650	UV protection	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0010739	positive regulation of protein kinase A signaling	IEA	biological process
GO:0019233	sensory perception of pain	IEA	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0042438	melanin biosynthetic process	IEA	biological process
GO:0043473	pigmentation	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0051897	positive regulation of protein kinase B signaling	IEA	biological process
GO:0004977	melanocortin receptor activity	IEA	molecular function
GO:0004980	melanocyte-stimulating hormone receptor activity	IEA	molecular function
GO:0090037	positive regulation of protein kinase C signaling	IEA	biological process
GO:0004980	melanocyte-stimulating hormone receptor activity	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008528	G protein-coupled peptide receptor activity	TAS	molecular function
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	biological process
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	biological process
GO:0032720	negative regulation of tumor necrosis factor production	IMP	biological process
GO:0090037	positive regulation of protein kinase C signaling	ISS	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0070914	UV-damage excision repair	IDA	biological process
GO:0010739	positive regulation of protein kinase A signaling	ISS	biological process
GO:0035556	intracellular signal transduction	ISS	biological process
GO:0043473	pigmentation	TAS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0051897	positive regulation of protein kinase B signaling	ISS	biological process
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction
hsa04916	Melanogenesis

Diseases

Associated diseases	References
Oculocutaneous albinism	KEGG:H00168
Oculocutaneous albinism	KEGG:H00168
Major depressive disorder	PMID:21052032
Melanoma	PMID:17434924
Melanoma	PMID:8894704
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray