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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
Chr8:123407107-123410744 bp, + strand
From VEGA annotation of GRCm38

  3638 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 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: MC1R
Protein SuperFamily: melanocortin receptor
Gene Tree: Mc1r

Human
homologs
MC1R, melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 4157
neXtProt AC: NX_Q01726

Human Synonyms: CMM5, MSH-R, SHEP2

Human Chr (Location): 16q24.3; chr16:89917879-89920977 (+)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human MC1R

Mutations,
alleles, and
phenotypes
All mutations/alleles(13) : Chemically induced (ENU)(3) Spontaneous(6) Targeted(4)
Incidental mutations (data from APF )
 
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.
 
Interactions
Mc1r interacts with 245 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (3 records)
Data Summary: Results (20)    Tissues (2)    Images (1)    Tissue x Stage Matrix (view)
Assay TypeResults
RT-PCR 20
cDNA source data(7)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: ZFIN mc1r    NEW 
Molecular
reagents
All nucleic(10) Genomic(2) cDNA(7) Primer pair(1)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000051105 (Evidence)
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 Phenotyping Consortium Status Mc1r
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000051105 VEGA Gene Model | MGI Sequence Detail 3638 C57BL/6J ±  kb
transcript OTTMUST00000129511 VEGA | MGI Sequence Detail 3638 Not Applicable 
polypeptide OTTMUSP00000069549 VEGA | MGI Sequence Detail 315 Not Applicable 

For the selected sequences
All sequences(26) RefSeq(2) UniProt(2)
Polymorphisms
RFLP(1) : SNPs within 2kb(39 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
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:219249 Wolnicka-Glubisz A, et al., A melanin-independent interaction between Mc1r and Met signaling pathways is required for HGF-dependent melanoma. Int J Cancer. 2015 Feb 15;136(4):752-60
All references(115)
Other
accession IDs
MGD-MRK-15162, MGD-MRK-16225, MGD-MRK-16229, MGD-MRK-9266

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory