Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4157
Gene name Gene Name - the full gene name approved by the HGNC.	Melanocortin 1 receptor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MC1R
Synonyms (NCBI Gene) Gene synonyms aliases	CMM5, MSH-R, SHEP2
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16q24.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(16)

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

Show/Hide all(74)

miRTarBase ID	miRNA	Experiments
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

Show/Hide all(1)

Transcription factor	Regulation	Reference
MITF	Unknown	12204775

Show/Hide all(41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004977	Function	Melanocortin receptor activity	IEA
GO:0004977	Function	Melanocortin receptor activity	TAS	9571181
GO:0004980	Function	Melanocyte-stimulating hormone receptor activity	IBA
GO:0004980	Function	Melanocyte-stimulating hormone receptor activity	IEA
GO:0004980	Function	Melanocyte-stimulating hormone receptor activity	IPI	19743876
GO:0005515	Function	Protein binding	IPI	19329486, 19743876, 31097585
GO:0005737	Component	Cytoplasm	IBA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	19452503, 31097585
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9571181
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
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
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	19329486, 19743876
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IEA
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IEA
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	ISS	18292087
GO:0008528	Function	G protein-coupled peptide receptor activity	TAS	18292087
GO:0009650	Process	UV protection	TAS	7581459
GO:0010468	Process	Regulation of gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0019233	Process	Sensory perception of pain	IEA
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	IEA
GO:0035556	Process	Intracellular signal transduction	ISS	18292087
GO:0042438	Process	Melanin biosynthetic process	IBA
GO:0042438	Process	Melanin biosynthetic process	IEA
GO:0042562	Function	Hormone binding	IEA
GO:0043473	Process	Pigmentation	TAS	18292087
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS	18292087
GO:0060259	Process	Regulation of feeding behavior	IEA
GO:0070914	Process	UV-damage excision repair	IDA	18292087
GO:0141163	Process	Positive regulation of cAMP/PKA signal transduction	IBA
GO:0141163	Process	Positive regulation of cAMP/PKA signal transduction	IEA
GO:0141163	Process	Positive regulation of cAMP/PKA signal transduction	ISS	18292087
GO:2000253	Process	Positive regulation of feeding behavior	IEA

MIM	HGNC	e!Ensembl
155555	6929	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

Tissue specificity

TISSUE SPECIFICITY: Expressed in melanocytes (PubMed:1325670, PubMed:31097585). Expressed in corticoadrenal tissue (PubMed:1325670). {ECO:0000269|PubMed:1325670, ECO:0000269|PubMed:31097585}.

Sequence

MAVQGSQRRLLGSLNSTPTAIPQLGLAANQTGARCLEVSISDGLFLSLGLVSLVENALVV
ATIAKNRNLHSPMYCFICCLALSDLLVSGSNVLETAVILLLEAGALVARAAVLQQLDNVI
DVITCSSMLSSLCFLGAIAVDRYISIFYALRYHSIVTLPRARRAVAAIWVASVVFSTLFI
AYYDHVAVLLCLVVFFLAMLVLMAVLYVHMLARACQHAQGIARLHKRQRPVHQGFGLKGA
VTLTILLGIFFLCWGPFFLHLTLIVLCPEHPTCGCIFKNFNLFLALIICNAIIDPLIYAF
HSQELRRTLKEVLTCSW

Sequence length

317

Interactions

View interactions

	KEGG		Reactome
	Neuroactive ligand-receptor interaction Hormone signaling Melanogenesis		Peptide ligand-binding receptors G alpha (s) signalling events ADORA2B mediated anti-inflammatory cytokines production

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
tyrosinase-positive oculocutaneous albinism	Tyrosinase-positive oculocutaneous albinism	rs143395134	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Carcinoma	Basal cell carcinoma, Squamous cell carcinoma	N/A	N/A	GWAS
Malignant Melanoma	Malignant Melanoma Susceptibility	N/A	N/A	ClinVar
Melanoma	Melanoma, cutaneous malignant, susceptibility to, 5, melanoma, familial melanoma, Melanoma, cutaneous malignant, susceptibility to, 1, Melanoma	N/A	N/A	ClinVar, GWAS

Show/Hide Text Mining Associations (62)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
ABCD syndrome	Associate	22965007
Albinism	Associate	21541274, 35488210
Albinism Oculocutaneous	Associate	12876664, 21052032
Alzheimer Disease	Associate	24742402, 28059796
Anxiety	Associate	19571053, 35301265
Basal Cell Nevus Syndrome	Associate	25159867
Burns	Associate	25858289
Carcinoma Basal Cell	Associate	11179997, 11254446, 16645598, 21700618, 22158557, 25159867, 25858289, 26103569
Carcinoma Squamous Cell	Associate	11179997, 11254446, 22797298, 24238329, 24742402, 26103569, 27424798, 29054604, 29405243
Color Vision Defects	Associate	24000325
Colorectal Neoplasms	Associate	32375704, 34698109, 35484177, 36356413
Death	Associate	22325793
Depressive Disorder	Associate	21052032, 35301265
Depressive Disorder Major	Associate	21052032, 35955479
Diabetes Mellitus Type 2	Associate	35955479
Dyschromatosis universalis hereditaria	Associate	28382689
Epidermal Nevus	Associate	22965007, 35701387
Essential Tremor	Associate	30252209
Facial Pain	Associate	27555332
Glucocorticoid Deficiency 2	Associate	22337906
Head and Neck Neoplasms	Associate	20721616, 23096702
Heart Defects Congenital	Associate	28947386
Huntington Disease	Associate	24742402
Hutchinson's Melanotic Freckle	Associate	23647022
Hyperpigmentation	Associate	22337906, 28382689, 28947386
Hypopigmentation	Associate	21541274
Inflammation	Associate	12177778, 17228030, 21052032, 25898835, 29968341
Keratosis Actinic	Associate	27646882
Lentigo	Associate	29898205
Leukemia Myeloid	Associate	12177778
Melanocytic nevus syndrome congenital	Associate	10465111
Melanoma	Associate	10536983, 11179997, 11500805, 11500806, 11511307, 11833005, 12177778, 16417234, 16601669, 17611626, 18025365, 18368129, 18454494, 18510673, 18787543 View all (74 more)
Melanoma Amelanotic	Associate	28746718
Melanoma Cutaneous Malignant	Associate	10465111, 10631149, 11254446, 11511307, 14612910, 16601669, 18510673, 18761657, 18803811, 19710684, 22095472, 22325793, 22464597, 22978401, 23096702 View all (6 more)
Melanosis	Associate	25410285, 29190509, 31400656
Metrorrhagia	Associate	25705849, 32835660
Microsatellite Instability	Associate	34698109
Neoplasms	Associate	16417234, 16645598, 22325793, 25790105, 28081215, 29317335, 34698109
Neoplasms Basal Cell	Associate	31437847
Neoplastic Cells Circulating	Associate	36499015
Neurodegenerative Diseases	Associate	24742402, 28947386
Nevus	Associate	22095472, 22797298, 24134749, 25410285
Nevus Pigmented	Associate	18795926, 22464597, 22572819, 22797298, 32323445
Obesity	Stimulate	17228030
Obesity	Associate	27394708
Oculocutaneous albinism type 2	Associate	12876664
Pain	Associate	19571053, 27555332, 34924555
Pain Insensitivity Congenital	Associate	21052032
Parkinson Disease	Associate	19194882, 24742402, 27131830, 30252209
Pathophobia	Associate	27555332
Piebaldism	Associate	24000325
Pigmentation Disorders	Associate	11179997, 11833005, 17130136, 18510673, 19452503, 19578364, 20467398, 20519635, 20876876, 21270109, 22797298, 23647022, 23860522, 24134749, 24588892 View all (14 more)
Prostatic Neoplasms	Associate	11720436, 23860522, 29518100
Simpson Golabi Behmel syndrome	Associate	27394708
Skin Diseases	Associate	11179997, 29898205, 34326492
Skin Hair Eye Pigmentation Variation In 5	Associate	9665397
Skin Neoplasms	Associate	11254446, 17130136, 18402696, 18510673, 19452503, 21700618, 22862891, 24134749, 24742402, 25705849, 26103569, 26702765, 28030792, 29968341, 31437847 View all (6 more)
Smoke Inhalation Injury	Associate	21787368
Stomatognathic Diseases	Associate	19571053, 27555332
Sunburn	Associate	22464597, 29898205
Urticaria Solar	Associate	11179997
Vitiligo	Associate	33757175, 33790887, 35411132

MC1R (melanocortin 1 receptor)