MC1R - melanocortin 1 receptor Gene

Also Known as CMM5; MSH-R; SHEP2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4157

About MC1R

Cytogenetic location: 16q24.3 Genomic coordinates (GRCh38): 16:89,918,862-89,920,972 (from NCBI)

This gene has 4 transcripts (splice variants), 156 orthologues, 18 paralogues and is associated with 7 phenotypes.

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. 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]

MC1R Products (1)

mRNA	Protein	Name
NM_002386.4	NP_002377.4	melanocyte-stimulating hormone receptor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables melanocyte-stimulating hormone receptor activity	IPI IPI: Inferred from physical interaction	19743876	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19329486	GOA
enables ubiquitin protein ligase binding	IPI IPI: Inferred from physical interaction	19737927	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in UV-damage excision repair	IDA IDA: Inferred from direct assay	18292087	GOA
involved in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA IDA: Inferred from direct assay	19329486	GOA
involved in negative regulation of tumor necrosis factor production	IMP IMP: Inferred from mutant phenotype	10233018	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	19452503	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MC1R Protein Structure

7tm_1

0
100
200
300
317 a.a.

Protein Preferred Names	Protein Names
melanocyte-stimulating hormone receptor	MC1-R alpha melanocyte stimulating hormone receptor melanotropin receptor

MC1R Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MC1R	Q01726	OPN3	Homo sapiens	Q9H1Y3	Anti Tag CoIP	31097585
Intra	MC1R	Q01726	MRAP	Homo sapiens	Q8TCY5	Anti Tag CoIP	19329486

Cross: Cross-species interaction Intra: Intraspecies interaction

MC1R Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82274	MC1R Antibody (YA2019)	WB, IHC-P	Human

Related Diseases

Diseases	Alias
Protoporphyria, Erythropoietic, 1	Erythropoietic Protoporphyria Epp Ferrochelatase Deficiency Protoporphyria, Erythropoietic Erythrohepatic Protoporphyria Heme Synthetase Deficiency Autosomal Erythropoietic Protoporphyria EPP1 Protoporphyria Protoporphyria Erythropoietic
Acral Lentiginous Melanoma	Acral Lentiginous Melanoma, Malignant Malignant Acral Lentiginous Melanoma Alm Acral Lentiginous Malignant Melanoma Of Skin Palmar/Plantar Melanoma Subungual Melanoma Acral Lentiginous Malignant Melanoma
Nodular Malignant Melanoma	Nodular Melanoma
Angelman Syndrome	AS Happy Puppet Syndrome Happy Puppet Syndrome, Formerly Puppetlike Syndrome
Skin Melanoma	Cutaneous Melanoma Malignant Ear Melanoma Malignant Lip Melanoma Malignant Lower Limb Melanoma Malignant Melanoma Of Ear And/Or External Auricular Canal Malignant Melanoma Of Skin Of Lower Limb Malignant Melanoma Of Skin Of Trunk Except Scrotum Malignant Melanoma Of Skin Of Upper Limb Malignant Neck Melanoma Malignant Scalp Melanoma Malignant Trunk Melanoma Malignant Upper Limb Melanoma Melanoma, Cutaneous Malignant Melanoma Malignant Melanoma Of Skin Melanoma Nos Malignant Mole, Meaning Melanoma Of Unspecified Site Melanoma Of Unspecified Site Cutaneous Malignant Melanoma Mm - [Malignant Melanoma]
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1	Vitiligo VAMAS1 Slev1 Vtlg Systemic Lupus Erythematosus, Vitiligo-Related Vitiligo-Associated Multiple Autoimmune Disease 1 Systemic Lupus Erythematosus Vitiligo-Related
Melanoma, Cutaneous Malignant 5	Melanoma, Cutaneous Malignant, Susceptibility To, 5 CMM5 Melanoma, Cutaneous Malignant, 5 Cutaneous Malignant Melanoma 5 Melanoma, Cutaneous, Malignant, Susceptibility To, Type 5
Basal Cell Carcinoma	Basal Cell Cancer Basal Cell Neoplasm Basal Cell Carcinoma Of Skin Malignant Basal Cell Tumor Basal Cell Tumor Epithelioma Basal Cell Malignant Basal Cell Neoplasm Rodent Ulcer Carcinoma Basal Cell Neoplasms, Basal Cell Basal Cell Carcinomas Experimental Organism Basal Cell Carcinoma Nodulo-Ulcerative Basal Cell Carcinoma Basalioma Basal Cell Epithelioma Of Skin Bcc - [Basal Cell Carcinoma] Of Skin Rodent Ulcer Of Skin Rodent Ulcer Of Unspecified Site Basal Cell Epithelioma Of Unspecified Site
Increased Analgesia From Kappa-Opioid Receptor Agonist, Female-Specific	Analgesia From Kappa-Opioid Receptor Agonist, Female-Specific Analgesia, Increased, From Kappa-Opioid Receptor Agonist, Female-Specific
Mucosal Melanoma
Skin/Hair/Eye Pigmentation, Variation In, 2	Uv-Induced Skin Damage, Susceptibility To SHEP2 Red Hair Color Rhc Blond Hair/Fair Skin Rha Hair Color 2 Hcl2 Uv-Induced Skin Damage Pigmentation, Skin/Hair/Eye, Variation In, Type 2 Shep-2
Waardenburg'S Syndrome	Waardenburg Syndrome Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome Van Der Hoeve Halbertsona Waardenburg Syndrome Waardenburg Shah Syndrome Waardenburg, Types I And/Or Ii Mende Syndrome Waardenburgs Syndrome Waardenburg Syndrome, Type 4a
Familial Glucocorticoid Deficiency	Glucocorticoid Deficiency Acth Resistance Adrenal Unresponsiveness To Acth Hereditary Unresponsiveness To Adrenocorticotropic Hormone Isolated Glucocorticoid Deficiency Glucocorticoid Deficiency, Familial Glucocorticoid Deficiency 1
Body Mass Index Quantitative Trait Locus 11	OBESITY Obesity, Susceptibility To Leanness, Inherited Obesity, Susceptibility To, Bmiq11 Obesity, Mild, Early-Onset Obesity, Association With Obesity, Early-Onset, Susceptibility To Obesity, Severe Obesity, Severe, And Type Ii Diabetes Obesity, Late-Onset BMIQ11 Obesity Bmiq11 Obesity, Early-Onset Obesity , Susceptibility To Simple Obesity Nos Excess Fat Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified Adiposis
Skin Disease	Skin Diseases Abnormality Of The Skin Skin Diseases, Genetic Genodermatosis Skin And Subcutaneous Tissue Disease Dermatologic Disorders
Tietz Albinism-Deafness Syndrome	Tietz Syndrome Albinism-Deafness Of Tietz Hypopigmentation/Deafness Of Tietz Tietze'S Syndrome TADS Costochondral Junction Syndrome Costochondritis Tietze Syndrome Hypopigmentation-Deafness Syndrome Costalchondritis Slipping Rib Syndrome Tietze'S Disease Chondropathia Tuberosa Albinism And Complete Nerve Deafness Tietz'S Syndrome Hypopigmentation-Hearing Loss Syndrome Costal Chondritis Abnormality Of The Costochondral Junction
Actinic Keratosis	Solar Keratosis Actinic Keratosis Senile Hyperkeratosis Sk - Solar Keratosis Keratosis, Actinic Seborrheic Keratosis Ak - [Actinic Keratosis] Sk - [Solar Keratosis]
Basal Cell Nevus Syndrome	Nevoid Basal Cell Carcinoma Syndrome Gorlin Syndrome Nbccs BCNS Gorlin-Goltz Syndrome Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies Cerebral Gigantism Jaw Cysts Cramer Niederdellmann Syndrome Gorlin Syndrome Or Gorlin-Goltz Syndrome Naevoid Basal Cell Carcinoma Syndrome
Acute Contagious Conjunctivitis	Pink Eye Contagious Opthalmia Pinkeye Conjunctivitis Keratoconjunctivitis Due To Mycoplasma Conjunctivae
Acanthoma
Oculocutaneous Albinism	Albinism, Oculocutaneous Oca Albinism Oculocutaneous Oca - [Oculocutaneous Albinism]
Keratosis, Seborrheic	Seborrheic Keratosis Keratosis, Seborrheic, Somatic Basal Cell Papilloma Keratosis Seborrheica KERSEB
Ocular Melanoma	Intraocular Melanoma Uveal Melanoma Eye Melanoma Melanoma Of Eye Melanoma Of The Uvea Malignant Melanoma Of Eye
Amelanotic Melanoma	Melanoma, Amelanotic Melanoma Amelanotic Amelanotic Skin Melanoma
Melanoma In Congenital Melanocytic Nevus	Malignant Melanoma In Congenital Melanocytic Nevus Melanocytic Nevi Nevi Melanocytic
Melanoma, Cutaneous Malignant 1	Familial Melanoma Melanoma, Cutaneous Malignant, Susceptibility To, 1 CMM1 Melanoma, Cutaneous Malignant Cmm Melanoma, Malignant Familial Atypical Mole-Malignant Melanoma Syndrome Fammm Melanoma, Familial Mlm Dysplastic Nevus Syndrome, Hereditary Dns B-K Mole Syndrome Melanoma, Cutaneous Malignant, 1 Malignant Melanoma, Cutaneous Melanoma, Cutaneous, Malignant, Susceptibility To, Type 1 Dysplastic Nevus Syndrome Cutaneous Melanoma Familial Atypical Mole Melanoma Syndrome Hereditary Melanoma
Albinism, Oculocutaneous, Type Ii	OCA2 Oculocutaneous Albinism Type 2 Oculocutaneous Albinism Type Ii Albinoidism Tyrosinase-Positive Oculocutaneous Albinism Brown Oculocutaneous Albinism Oculocutaneous Albinism, Tyrosinase-Positive Albinism Ii Albinism, Brown Oculocutaneous Oculocutaneous Albinism, Type Ii, Modifier Of Oculocutaneous Albinism, Type Ii Albinism, Oculocutaneous, Type Ii, Modifier Of Albinism 2 Albinism, Oculocutaneous, Type 2 Oculocutaneous Albinism Tyrosinase Positive Oculocutaneous Albinism, Tyrosinase Positive Albinism, Oculocutaneous, 2 Boca Oca-2 Oculocutaneous Albinism Tyrosinase-Positive
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia
Dysplastic Nevus Syndrome	Familial Atypical Multiple Mole-Melanoma Familial Atypical Multiple Mole Melanoma Syndrome Melanoma-Pancreatic Cancer Syndrome Famm Syndrome B-K Mole Syndrome Famm-Pc Syndrome Fammm Syndrome Familial Atypical Mole Syndrome Familial Atypical Multiple Mole Melanoma-Pancreatic Carcinoma Syndrome Familial Dysplastic Nevus Syndrome Familial Atypical Multiple Mole Melanoma Dysplastic Nevus Familial Atypical Mole Melanoma Syndrome
Melanoma, Uveal	Uveal Melanoma Choroidal Melanoma Melanoma Of Uvea Iris Melanoma Malignant Melanoma Of Choroid Malignant Melanoma Of Iris
Ocular Cancer	Eye Carcinoma Eye Neoplasm Eye Cancer Eye Neoplasms Malignant Eye Neoplasm Neoplasm Of Eye Neoplasm Of Eye Proper Ocular Tumor Carcinoma Of Eye Ocular Carcinoma Malignant Tumor Of Eye
Microphthalmia	Microphthalmos Isolated Anophthalmia-Microphthalmia Syndrome Isolated Microphthalmia-Anophthalmia-Coloboma Simple Microphthalmos Clinical Anophthalmia Isolated Anophthalmia - Microphthalmia Isolated Pure Microphthalmia Mac Spectrum Microphthalmia-Anophthalmia-Coloboma Spectrum Primitive Anophthalmia Globe Of Eye Small Small Eyeball Hypoplasia Of Eye Isolated Nanophthalmos Rudimentary Eye Dysplasia Of Eye
Rem Sleep Behavior Disorder	Rem Sleep Behaviour Disorder Rapid Eye Movement Sleep Behavior Disorder Rapid Eye Movement Sleep Behaviour Disorder Rem - [Rapid Eye Movement] Behaviour Disorder
Albinism, Oculocutaneous, Type Iv	OCA4 Oculocutaneous Albinism Type 4 Oculocutaneous Albinism, Type Iv Oculocutaneous Albinism Type Iv Albinism, Oculocutaneous, 4
Keratosis	Actinic Keratosis Hyperkeratosis
Large Congenital Melanocytic Nevus	Giant Pigmented Hairy Nevus Giant Congenital Melanocytic Nevus Gmn Congenital Pigmented Nevus Lcmn Gphn Giant Congenital Nevus Bathing Trunk Nevus Congenital Giant Pigmented Nevus Congenital Hairy Nevus Giant Hairy Nevus Giant Pigmented Nevus Congenital Giant Pigmented Nevus Of Skin Congenital Melanocytic Nevus Syndrome Giant Congenital Melanocytic Nevi Giant Congenital Pigmented Nevus Melanocytic Nevus Syndrome, Congenital
Melanoma	Malignant Melanoma Cutaneous Melanoma Naevocarcinoma Malignant Melanomas
Lentigines	Lentigo
Ochronosis
Waardenburg Syndrome, Type 2a	Waardenburg Syndrome Type 2a WS2A Waardenburg Syndrome, Type Iia Waardenburg Syndrome Without Dystopia Canthorum Ws2 Waardenburg Syndrome Type Iia Waardenburg Syndrome 2a
Skin Carcinoma	Skin Cancer Carcinoma Of Skin Ca - Skin Cancer Cancer Of Skin Malignant Neoplasm Of Skin Melanoma And Non-Melanoma Skin Cancer Skin Cancers Cancer, Skin
Acute Conjunctivitis
Melanoma-Astrocytoma Syndrome	Melanoma And Neural System Tumor Syndrome Melanoma Astrocytoma Syndrome MASTS
Piebald Trait	Piebaldism PBT Partial Albinism Albinoidism, Oculocutaneous, Autosomal Dominant

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Approval
Clinical Phase
Pre-clinical Phase

Approval

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-N2466	Melanotan I	Agonist	99.04%	Unkown
HY-N2466A	Melanotan I acetate	Agonist	98.96%	Unkown

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-107139	JNJ-10229570	Antagonist	98.0%	Phase 2

Pre-clinical Phase

Bioactive Molecules (15)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P1726	MSG606	Antagonist	99.68%	Unkown
HY-115644	BMS-470539 dihydrochloride	Agonist	99.85%	Unkown
HY-P0097A	Nonapeptide-1 acetate salt	Antagonist	95.58%	Unkown
HY-P5247	Palmitoyl tetrapeptide-20	Activator	99.21%	Unkown
HY-P0097	Nonapeptide-1	Antagonist	98.74%	Unkown
HY-147301	Resomelagon	Agonist	98.79%	Unkown
HY-P1545A	ACTH (1-17) TFA	Agonist	99.79%	Unkown
HY-P2336A	CCZ01048 TFA		98.54%	Unkown
HY-19870C	Setmelanotide monoacetate	Agonist	99.81%	Unkown
HY-P5247A	Palmitoyl tetrapeptide-20 TFA	Activator	/	Unkown
HY-P99004	hMC1R agonist 1	Antagonist	/	Unkown
HY-168383	(E/Z)-Resomelagon acetate	Agonist	/	Unkown
HY-P1726A	MSG606 TFA	Antagonist	/	Unkown
HY-111131	RY764	Agonist	/	Unkown
HY-125055A	CD08108	Agonist	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	MC1R	VGNC	VGNC:107061
Bos taurus	MC1R	VGNC	VGNC:106814
Rattus norvegicus	MC1R	RGD	RGD:1312046
Mus musculus	MC1R	MGD	MGI:99456
Others	MC1R	NCBI