MC1R (melanocortin 1 receptor)

Gene

• Entrez ID: 4157
• Gene name: Melanocortin 1 receptor
• Gene symbol: MC1R
• Synonyms: CMM5, MSH-R, SHEP2
• Chromosome: 16
• Chromosome location: 16q24.3
• 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1110400	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1805006	C>A,G	Likely-benign, risk-factor, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1805007	C>A,G,T	Pathogenic, association, likely-benign, benign, affects, risk-factor	Missense variant, coding sequence variant
rs1805008	C>T	Pathogenic, association, likely-benign, affects, risk-factor	Missense variant, coding sequence variant
rs34158934	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs34474212	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs34540312	G>A,C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs104894523	C>A,T	Risk-factor	Coding sequence variant, missense variant
rs104894524	C>G,T	Risk-factor	Coding sequence variant, missense variant
rs201326893	C>A	Likely-benign, uncertain-significance, pathogenic	Stop gained, coding sequence variant
rs201533137	C>T	Likely-pathogenic, uncertain-significance	Stop gained, coding sequence variant
rs370441592	C>A,T	Conflicting-interpretations-of-pathogenicity	Stop gained, coding sequence variant, synonymous variant
rs373224783	C>A,G	Likely-pathogenic	Missense variant, coding sequence variant
rs376670171	G>A,T	Likely-pathogenic, benign, likely-benign	Missense variant, coding sequence variant
rs747777879	GTC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1310082996	TCT>-	Risk-factor	Coding sequence variant, inframe deletion

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1136269	hsa-miR-1202	CLIP-seq
MIRT1136270	hsa-miR-1205	CLIP-seq
MIRT1136271	hsa-miR-1286	CLIP-seq
MIRT1136272	hsa-miR-3120-5p	CLIP-seq
MIRT1136273	hsa-miR-346	CLIP-seq
MIRT1136274	hsa-miR-3972	CLIP-seq
MIRT1136275	hsa-miR-4269	CLIP-seq
MIRT1136276	hsa-miR-4288	CLIP-seq
MIRT1136277	hsa-miR-4420	CLIP-seq
MIRT1136278	hsa-miR-4446-3p	CLIP-seq
MIRT1136279	hsa-miR-4514	CLIP-seq
MIRT1136280	hsa-miR-4649-5p	CLIP-seq
MIRT1136281	hsa-miR-4675	CLIP-seq
MIRT1136282	hsa-miR-4685-5p	CLIP-seq
MIRT1136283	hsa-miR-4692	CLIP-seq
MIRT1136284	hsa-miR-4722-5p	CLIP-seq
MIRT1136285	hsa-miR-4741	CLIP-seq
MIRT1136286	hsa-miR-4742-5p	CLIP-seq
MIRT1136287	hsa-miR-4755-3p	CLIP-seq
MIRT1136288	hsa-miR-4776-3p	CLIP-seq
MIRT1136289	hsa-miR-626	CLIP-seq
MIRT1136290	hsa-miR-632	CLIP-seq
MIRT1136291	hsa-miR-635	CLIP-seq
MIRT2038779	hsa-miR-1178	CLIP-seq
MIRT2038780	hsa-miR-122	CLIP-seq
MIRT2038781	hsa-miR-1343	CLIP-seq
MIRT2038782	hsa-miR-1915	CLIP-seq
MIRT2038783	hsa-miR-3074-5p	CLIP-seq
MIRT2038784	hsa-miR-3124-3p	CLIP-seq
MIRT2038785	hsa-miR-3165	CLIP-seq
MIRT2038786	hsa-miR-3189-5p	CLIP-seq
MIRT2038787	hsa-miR-342-5p	CLIP-seq
MIRT2038788	hsa-miR-3657	CLIP-seq
MIRT2038789	hsa-miR-3691-5p	CLIP-seq
MIRT2038790	hsa-miR-4264	CLIP-seq
MIRT1136275	hsa-miR-4269	CLIP-seq
MIRT1136277	hsa-miR-4420	CLIP-seq
MIRT2038791	hsa-miR-4433	CLIP-seq
MIRT2038792	hsa-miR-4481	CLIP-seq
MIRT1136279	hsa-miR-4514	CLIP-seq
MIRT2038793	hsa-miR-4651	CLIP-seq
MIRT2038794	hsa-miR-4664-5p	CLIP-seq
MIRT1136283	hsa-miR-4692	CLIP-seq
MIRT2038795	hsa-miR-4704-3p	CLIP-seq
MIRT2038796	hsa-miR-4726-3p	CLIP-seq
MIRT1136286	hsa-miR-4742-5p	CLIP-seq
MIRT2038797	hsa-miR-4745-5p	CLIP-seq
MIRT2038798	hsa-miR-499a-5p	CLIP-seq
MIRT2038799	hsa-miR-513a-5p	CLIP-seq
MIRT2038800	hsa-miR-556-3p	CLIP-seq
MIRT2038801	hsa-miR-608	CLIP-seq
MIRT2038802	hsa-miR-616	CLIP-seq
MIRT2038803	hsa-miR-665	CLIP-seq
MIRT2038804	hsa-miR-767-3p	CLIP-seq
MIRT2268784	hsa-miR-338-5p	CLIP-seq
MIRT2268785	hsa-miR-377	CLIP-seq
MIRT2268786	hsa-miR-3914	CLIP-seq
MIRT2268787	hsa-miR-873	CLIP-seq
MIRT2038780	hsa-miR-122	CLIP-seq
MIRT2038782	hsa-miR-1915	CLIP-seq
MIRT2038788	hsa-miR-3657	CLIP-seq
MIRT2038791	hsa-miR-4433	CLIP-seq
MIRT2038792	hsa-miR-4481	CLIP-seq
MIRT2038796	hsa-miR-4726-3p	CLIP-seq
MIRT2038797	hsa-miR-4745-5p	CLIP-seq
MIRT2038803	hsa-miR-665	CLIP-seq
MIRT2038782	hsa-miR-1915	CLIP-seq
MIRT2268785	hsa-miR-377	CLIP-seq
MIRT2268786	hsa-miR-3914	CLIP-seq
MIRT2268787	hsa-miR-873	CLIP-seq
MIRT2038782	hsa-miR-1915	CLIP-seq
MIRT2268785	hsa-miR-377	CLIP-seq
MIRT2268786	hsa-miR-3914	CLIP-seq
MIRT2268787	hsa-miR-873	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
MITF	Unknown	12204775

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004930	Function	G protein-coupled receptor activity	IBA	21873635
GO:0004977	Function	Melanocortin receptor activity	TAS	9571181
GO:0004980	Function	Melanocyte-stimulating hormone receptor activity	IBA	21873635
GO:0004980	Function	Melanocyte-stimulating hormone receptor activity	IPI	19743876
GO:0005515	Function	Protein binding	IPI	19329486, 19743876, 31097585
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	19452503, 31097585
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	TAS	9571181
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007187	Process	G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	TAS	9571181
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	19329486, 19743876
GO:0007275	Process	Multicellular organism development	TAS	7581459
GO:0008528	Function	G protein-coupled peptide receptor activity	TAS	18292087
GO:0009650	Process	UV protection	TAS	7581459
GO:0010739	Process	Positive regulation of protein kinase A signaling	ISS	18292087
GO:0019222	Process	Regulation of metabolic process	IBA	21873635
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	19737927
GO:0032720	Process	Negative regulation of tumor necrosis factor production	IMP	10233018
GO:0035556	Process	Intracellular signal transduction	ISS	18292087
GO:0043473	Process	Pigmentation	TAS	18292087
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS	18292087
GO:0051897	Process	Positive regulation of protein kinase B signaling	ISS	18292087
GO:0070914	Process	UV-damage excision repair	IDA	18292087
GO:0090037	Process	Positive regulation of protein kinase C signaling	ISS	18292087

Other IDs

• MIM: 155555
• HGNC: 6929
• e!Ensembl: ENSG00000258839

Protein

• UniProt ID: Q01726
• Protein name: Melanocyte-stimulating hormone receptor (MSH-R) (Melanocortin receptor 1) (MC1-R)
• Protein function: Receptor for MSH (alpha, beta and gamma) and ACTH (PubMed:11442765, PubMed:11707265, PubMed:1325670, PubMed:1516719, PubMed:8463333). The activity of this receptor is mediated by G proteins which activate adenylate cyclase (PubMed:11707265, PubM
• PDB: 7F4D, 7F4F, 7F4H, 7F4I
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00001	7tm_1	55 → 298	7 transmembrane receptor (rhodopsin family)	Family

• Sequence:

  MAVQGSQRRLLGSLNSTPTAIPQLGLAANQTGARCLEVSISDGLFLSLGLVSLVENALVV
  ATIAKNRNLHSPMYCFICCLALSDLLVSGSNVLETAVILLLEAGALVARAAVLQQLDNVI
  DVITCSSMLSSLCFLGAIAVDRYISIFYALRYHSIVTLPRARRAVAAIWVASVVFSTLFI
  AYYDHVAVLLCLVVFFLAMLVLMAVLYVHMLARACQHAQGIARLHKRQRPVHQGFGLKGA
  VTLTILLGIFFLCWGPFFLHLTLIVLCPEHPTCGCIFKNFNLFLALIICNAIIDPLIYAF
  HSQELRRTLKEVLTCSW

• Sequence length: 317

Pathways

KEGG:

Neuroactive ligand-receptor interaction
Hormone signaling
Melanogenesis

Reactome:

Peptide ligand-binding receptors
G alpha (s) signalling events
ADORA2B mediated anti-inflammatory cytokines production

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Albinism	Albinism	rs28940876, rs387906560, rs62635045, rs140365820, rs141949212, rs1384042381, rs62635042
Basal cell neoplasm	Basal Cell Neoplasm, Basal Cell Cancer	rs587776578, rs587776579, rs2117956624, rs2118419579, rs2118365442, rs2118041703, rs2136689212, rs2118336503, rs1587692888, rs267606984, rs878853849, rs1554695110, rs1064793921, rs1588605348, rs1588568813	21700618, 27539887, 31174203, 31174203, 21700618, 27539887
Carcinoma	Basal cell carcinoma, Squamous cell carcinoma, Carcinoma, Basal Cell	rs121912654, rs555607708, rs786202962, rs1564055259	21700618, 31174203, 27539887, 31174203, 21700618, 18539553
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Melanoma	melanoma, Cutaneous Melanoma, Familial melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs1563902635, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050	19578364, 28212542, 21559390, 21983785
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Oculocutaneous albinism	Oculocutaneous albinism type 2	rs387906240, rs121918167, rs121918169, rs121918170, rs28940876, rs104894314, rs61754388, rs61753185, rs104894313, rs61754393, rs28940879, rs61753178, rs61753180, rs61754375, rs61754387, rs104894316, rs104894317, rs61754399, rs28940881, rs730880270, rs387906317, rs387906318, rs121912621, rs730880271, rs387906560, rs104894130, rs121912778, rs387906561, rs387906562, rs587776952, rs587776953, rs886037643, rs886037644, rs61754381, rs62645914, rs61753254, rs61754365, rs62645902, rs759411189, rs878854351, rs797045970, rs763819379, rs144812594, rs775387808, rs373775562, rs116887602, rs1057518192, rs1057518722, rs540911439, rs772595552, rs1294369944, rs562624441, rs140365820, rs141949212, rs1555452574, rs772398324, rs1555452572, rs1482829698, rs146802593, rs202120684, rs1031268531, rs748901196, rs773970123, rs1579564717, rs147736385, rs1450652793, rs1289685376, rs1595660890, rs1312967591, rs1753106609	26197705, 12876664
Rhabdomyosarcoma	Rhabdomyosarcoma	rs137854557, rs121909224, rs63751466, rs11540652, rs28934874, rs104894229, rs104894230, rs267606708, rs80357867, rs276174889, rs80359011, rs80358556, rs80359391, rs80357989, rs886037650, rs886037651, rs201744589, rs587780067, rs587781462, rs587782144, rs55863639, rs768638173, rs864622639, rs875989784, rs876657714, rs878855246, rs199474742, rs879253942, rs886037721, rs1057519989, rs750380279, rs1131691211, rs1202793339, rs1567611375

Unknown
Disease name	Disease term	dbSNP ID	References
Atypical mole melanoma syndrome	Familial Atypical Mole Melanoma Syndrome		24238329, 24258989
Mammary neoplasms	Mammary Neoplasms
Congenital melanocytic nevus	Congenital melanocytic nevus		22572819
Exotropia	Exotropia
Increased analgesia from kappa-opioid receptor agonist, female-specific	INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC (disorder)
Large congenital melanocytic nevus	GIANT PIGMENTED HAIRY NEVUS, Large congenital melanocytic nevus		22572819
Melanosis	Melanosis		17952075, 30166351
Mental depression	Mental Depression, Depressive disorder	rs587778876, rs587778877	21052032
Nevus	Nevus
Pancreatic neoplasm	Pancreatic Neoplasm
Retinal diseases	Retinal Diseases
Skin carcinoma	Squamous cell carcinoma of skin, Skin carcinoma		27424798, 23548203
Stomach neoplasms	Stomach Neoplasms
Strabismus	Strabismus
Vitiligo	Vitiligo		22561518