Mc1r
Gene Detail

Symbol Name ID

Mc1r melanocortin 1 receptor MGI:99456

Synonyms

e, extension recessive yellow, Mshra

Feature Type

protein coding gene

Genetic Map

Chromosome 8

72.10 cM
Detailed Genetic Map ± 1 cM


Mapping data(17)

Sequence Map

Chr8:123407082-123410742 bp, + strand From Ensembl annotation of GRCm38   3661 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:1789  Vertebrate Homology Class
1 human; 1 mouse; 1 chimpanzee; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: melanocortin receptor
Gene Tree: Mc1r

Human homologs

Human Homolog		MC1R, melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
NCBI Gene ID		4157
neXtProt AC		NX_Q01726
Human Synonyms		CMM5, MSH-R, SHEP2
Human Chr (Location)		16q24.3; chr16:89984287-89987385 (+)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human MC1R

Alleles and phenotypes

All alleles(13) : Targeted(4) Spontaneous(6) Chemically induced(3)
 

Mutant alleles at this locus extend or restrict the amount of black pigment (eumelanin) in hair with the opposite effect on yellow pigment (phaeomelanin). Some variants affect pain sensitivity.

 

Gene Ontology (GO) classifications

All GO classifications: (27 annotations)

Process	G-protein coupled receptor signaling pathway, intracellular protein kinase cascade, ...
Component	cytoplasm, integral to membrane, ...
Function	G-protein coupled receptor activity, melanocortin receptor activity, ...

External Resources: FuncBase

Expression

Literature Summary: (3 records)
Data Summary: Results (20)    Tissues (1)    Images (1)
Theiler Stages: 28

Assay Type	Results
RT-PCR	20

cDNA source data(7)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(10) Genomic(2) cDNA(7) Primer pair(1)
Microarray probesets(4)

Other database links

Ensembl Gene Model	ENSMUSG00000074037 (Evidence)
Entrez Gene	17199 (Evidence)
UniGene	324942
DFCI	TC1588600, TC1604786, TC1639746
DoTS	DT.91327896, DT.91329383, DT.97375414
Consensus CDS Project	CCDS22756.1
International Mouse Knockout Project Status	Mc1r

Sequences

Length	Strain/Species
genomic	ENSMUSG00000074037	Ensembl Gene Model | MGI Sequence Detail	3661	C57BL/6J
transcript	ENSMUST00000098324	Ensembl | MGI Sequence Detail	3661	Not Applicable
polypeptide	ENSMUSP00000095929	Ensembl | MGI Sequence Detail	315	Not Applicable

All sequences(22) RefSeq(2) UniProt(1)

Polymorphisms

RFLP(1) : SNPs(37 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR017452	GPCR, rhodopsin-like, 7TM
InterPro	IPR000276	G protein-coupled receptor, rhodopsin-like
InterPro	IPR001671	Melanocortin/ACTH receptor
InterPro	IPR000761	Melanocyte-stimulating hormone receptor
Protein Ontology	PR:000001239	melanocyte-stimulating hormone receptor

References

(Earliest) J:13077 Bateman N, Sombre, a viable dominant mutant in the house mouse. J Hered. 1961;52:186-189
(Latest) J:193005 Chung H, et al., Melanocortin 1 receptor regulates melanoma cell migration by controlling syndecan-2 expression. J Biol Chem. 2012 Jun 1;287(23):19326-35
All references(108)

Other accession IDs

MGD-MRK-15162, MGD-MRK-16225, MGD-MRK-16229, MGD-MRK-9266