Gene

mc1r

ID
ZDB-GENE-030502-1
Name
melanocortin 1 receptor
Symbol
mc1r Nomenclature History
Previous Names
None
Type
protein_coding_gene
Location
Chr: 18 Mapping Details/Browsers
Description
Predicted to have melanocyte-stimulating hormone receptor activity. Predicted to be involved in G protein-coupled receptor signaling pathway. Localizes to plasma membrane. Human ortholog(s) of this gene implicated in familial melanoma; major depressive disorder; melanoma; and oculocutaneous albinism type II. Is expressed in several structures, including endocrine system; female organism; integument; male organism; and nervous system. Orthologous to human MC1R (melanocortin 1 receptor).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
12 figures from 11 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
1 Figure from Cal et al., 2019
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With mc1r Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
[Analgesia from kappa-opioid receptor agonist, female-specific] 613098
[Skin/hair/eye pigmentation 2, blond hair/fair skin] 266300
[Skin/hair/eye pigmentation 2, red hair/fair skin] 266300
{Albinism, oculocutaneous, type II, modifier of} 203200
{Melanoma, cutaneous malignant, 5} 613099
{UV-induced skin damage} 266300
Associated With mc1r Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR017452 GPCR, rhodopsin-like, 7TM
Family IPR000276 G protein-coupled receptor, rhodopsin-like
Family IPR000761 Melanocyte-stimulating hormone receptor
Family IPR001671 Melanocortin/ACTH receptor
Domain Details Per Protein
Protein Length GPCR, rhodopsin-like, 7TM G protein-coupled receptor, rhodopsin-like Melanocortin/ACTH receptor Melanocyte-stimulating hormone receptor
UniProtKB:Q7ZTA3 323
Transcripts
Genome Browsers
Type Name Annotation Method Length (nt) Analysis
mRNA mc1r-201 (1) Havana 1328 nt
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations