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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
Chr8:123407082-123410742 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 rat; 1 chimpanzee; 1 dog; 1 chicken; 1 western clawed frog; 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; chr16:89917879-89920977 (+)  GRCh38
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 246 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (30 annotations)
Process G-protein coupled receptor signaling pathway, intracellular signal transduction, ...
Component integral component of membrane, intracellular, ...
Function G-protein coupled receptor activity, hormone binding, ...
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (20)    Tissues (2)    Images (1)
Theiler Stages: 27, 28
Assay TypeResults
RT-PCR 20
cDNA source data(7)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(10) Genomic(2) cDNA(7) Primer pair(1)
Microarray probesets(4)
Other database
links
Ensembl Gene ModelENSMUSG00000074037 (Evidence)
Entrez Gene17199 (Evidence)
UniGene324942
DFCITC1588600, TC1604786, TC1639746
DoTSDT.91327896, DT.91329383, DT.97375414
Consensus CDS ProjectCCDS22756.1
International Mouse Knockout Project StatusMc1r
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000074037 Ensembl Gene Model | MGI Sequence Detail 3661 C57BL/6J ±  kb
transcript ENSMUST00000098324 Ensembl | MGI Sequence Detail 3661 Not Applicable 
polypeptide ENSMUSP00000095929 Ensembl | MGI Sequence Detail 315 Not Applicable 

For the selected sequences
All sequences(22) RefSeq(2) UniProt(1)
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:203944 Cao J, et al., MC1R is a potent regulator of PTEN after UV exposure in melanocytes. Mol Cell. 2013 Aug 22;51(4):409-22
All references(114)
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
09/16/2014
MGI 5.19
The Jackson Laboratory