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
-
- All Expression Data
- 12 figures from 11 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Cal et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| oculocutaneous albinism type II | Alliance | {Albinism, oculocutaneous, type II, modifier of} | 203200 |
| [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 | ||
| {Melanoma, cutaneous malignant, 5} | 613099 | ||
| {UV-induced skin damage} | 266300 |
Domain, Family, and Site Summary
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 |
Interactions and Pathways
No data available
Plasmids
No data available