MC1R (melanocortin 1 receptor)

2003-02-01  

Identity

HGNC
MC1R
LOCATION
16q24.3
LOCUSID
4157
ALIAS
CMM5,MSH-R,SHEP2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4157
MIM: 155555
HGNC: 6929
Ensembl: ENSG00000258839

Variants:

dbSNP: 4157
ClinVar: 4157
TCGA: ENSG00000258839
COSMIC: MC1R

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000258839ENST00000555147Q01726
ENSG00000258839ENST00000555147Q1JUL4
ENSG00000258839ENST00000555427G3V4F0
ENSG00000258839ENST00000639847Q01726
ENSG00000258839ENST00000639847Q1JUL4

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Neuroactive ligand-receptor interactionKEGGko04080
MelanogenesisKEGGko04916
Neuroactive ligand-receptor interactionKEGGhsa04080
MelanogenesisKEGGhsa04916
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR ligand bindingREACTOMER-HSA-500792
Class A/1 (Rhodopsin-like receptors)REACTOMER-HSA-373076
Peptide ligand-binding receptorsREACTOMER-HSA-375276
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (s) signalling eventsREACTOMER-HSA-418555

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447321Depressive Disorder, MajorDiseaseClinicalAnnotationassociatedPD21052032
PA449233desipramineChemicalClinicalAnnotationassociatedPD21052032

References

Pubmed IDYearTitleCitations
385650692024Melanoma-associated melanocortin 1 receptor variants confer redox signaling-dependent protection against oxidative DNA damage.0
385650692024Melanoma-associated melanocortin 1 receptor variants confer redox signaling-dependent protection against oxidative DNA damage.0
366022332023Melanocortin 1 receptor variants and their association with phenotypic characteristics and sporadic multiple primary melanomas in a cohort of 402 Spanish subjects.0
367011402023AMPK Phosphorylates ZDHHC13 to Increase MC1R Activity and Suppress Melanomagenesis.4
368794482023The MC1R r allele does not increase melanoma risk in MITF E318K carriers.0
375695582023Melanocortin 1 Receptor (MC1R): Pharmacological and Therapeutic Aspects.3
376083472023Alpha-melanocyte stimulating hormone (α-MSH): biology, clinical relevance and implication in melanoma.4
377148442023Activation of melanocortin-1 receptor signaling in melanoma cells impairs T cell infiltration to dampen antitumor immunity.2
377626832023A Side-by-Side Comparison of Wildtype and Variant Melanocortin 1 Receptor Signaling with Emphasis on Protection against Oxidative Damage to DNA.2
366022332023Melanocortin 1 receptor variants and their association with phenotypic characteristics and sporadic multiple primary melanomas in a cohort of 402 Spanish subjects.0
367011402023AMPK Phosphorylates ZDHHC13 to Increase MC1R Activity and Suppress Melanomagenesis.4
368794482023The MC1R r allele does not increase melanoma risk in MITF E318K carriers.0
375695582023Melanocortin 1 Receptor (MC1R): Pharmacological and Therapeutic Aspects.3
376083472023Alpha-melanocyte stimulating hormone (α-MSH): biology, clinical relevance and implication in melanoma.4
377148442023Activation of melanocortin-1 receptor signaling in melanoma cells impairs T cell infiltration to dampen antitumor immunity.2

Citation

Dessen P

MC1R (melanocortin 1 receptor)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/191/mc1r-(melanocortin-1-receptor)