MC1R - melanocortin 1 receptor Gene

Homo sapiens

Also known as CMM5; MSH-R; SHEP2

Gene ID: 4157 | Gene type: protein coding

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

MC1R Protein Structure

7tm_1

0
100
200
317 a.a.

Protein Preferred Names

Protein Names

melanocyte-stimulating hormone receptor

MC1-R	alpha melanocyte stimulating hormone receptor
melanotropin receptor

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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-N2466	Melanotan I	Agonist	99.75%	Unkown
HY-N2466A	Melanotan I acetate	Agonist	/	Unkown

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-147301	Resomelagon	Agonist	99.63%	Phase 2

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P0097A	Nonapeptide-1 acetate salt	Antagonist	98.70%	Unkown
HY-P1545A	ACTH (1-17) (TFA)	Agonist	99.85%	Unkown
HY-P99004	hMC1R agonist 1	Antagonist	/	Unkown
HY-P1726A	MSG606 TFA	Antagonist	/	Unkown
HY-P0097	Nonapeptide-1	Antagonist	/	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