Mc1r melanocortin 1 receptor [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mc1rprovided by MGI
Official Full Name: melanocortin 1 receptorprovided by MGI
Primary source: MGI:MGI:99456
See related: Ensembl:ENSMUSG00000074037 AllianceGenome:MGI:99456
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: e; Tob; Mcr1; Mshra
Summary: Enables melanocyte-stimulating hormone receptor activity. Involved in intracellular signal transduction; positive regulation of intracellular signal transduction; and positive regulation of transcription by RNA polymerase II. Acts upstream of or within melanin biosynthetic process; pigmentation; and sensory perception of pain. Predicted to be located in membrane. Predicted to be integral component of membrane. Predicted to be active in cytoplasm and plasma membrane. Is expressed in ductus deferens; epididymis; esophagus; and skin. Human ortholog(s) of this gene implicated in familial melanoma; major depressive disorder; melanoma; oculocutaneous albinism type II; and pigmentation disease. Orthologous to human MC1R (melanocortin 1 receptor). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: human all
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Genomic context

Location:: 8 E1; 8 72.1 cM

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (124133839..124137483)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (123407082..123410744)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

LncRNA Anxa10-203 enhances Mc1r mRNA stability to promote neuropathic pain by recruiting DHX30 in the trigeminal ganglion.
Title: LncRNA Anxa10-203 enhances Mc1r mRNA stability to promote neuropathic pain by recruiting DHX30 in the trigeminal ganglion.
Peripheral MC1R Activation Modulates Immune Responses and is Neuroprotective in a Mouse Model of Parkinson's Disease.
Title: Peripheral MC1R Activation Modulates Immune Responses and is Neuroprotective in a Mouse Model of Parkinson's Disease.
Genealogical characterization of regional populations and dorsal coat color variation in the house mouse Mus musculus from Asia based on haplotype structure analysis of a gene-rich region harboring Mc1r.
Title: Genealogical characterization of regional populations and dorsal coat color variation in the house mouse Mus musculus from Asia based on haplotype structure analysis of a gene-rich region harboring Mc1r.
Hematopoietic-specific melanocortin 1 receptor signaling protects against nephrotoxic serum nephritis and mediates the beneficial effect of melanocortin therapy.
Title: Hematopoietic-specific melanocortin 1 receptor signaling protects against nephrotoxic serum nephritis and mediates the beneficial effect of melanocortin therapy.
Melanocortin 1 receptor activation protects against alpha-synuclein pathologies in models of Parkinson's disease.
Title: Melanocortin 1 receptor activation protects against alpha-synuclein pathologies in models of Parkinson's disease.
Melanocortin 1 Receptor Deficiency in Hematopoietic Cells Promotes the Expansion of Inflammatory Leukocytes in Atherosclerotic Mice.
Title: Melanocortin 1 Receptor Deficiency in Hematopoietic Cells Promotes the Expansion of Inflammatory Leukocytes in Atherosclerotic Mice.
Mouse Hair Significantly Lightened Through Replacement of the Cysteine Residue in the N-Terminal Domain of Mc1r Using the CRISPR/Cas9 System.
Title: Mouse Hair Significantly Lightened Through Replacement of the Cysteine Residue in the N-Terminal Domain of Mc1r Using the CRISPR/Cas9 System.
Activation of the Melanocortin-1 Receptor by NDP-MSH Attenuates Oxidative Stress and Neuronal Apoptosis through PI3K/Akt/Nrf2 Pathway after Intracerebral Hemorrhage in Mice.
Title: Activation of the Melanocortin-1 Receptor by NDP-MSH Attenuates Oxidative Stress and Neuronal Apoptosis through PI3K/Akt/Nrf2 Pathway after Intracerebral Hemorrhage in Mice.
Deficiency in MC1-R signaling exacerbates atherosclerosis by disturbing cholesterol handling and by increasing arterial monocyte accumulation.
Title: Melanocortin 1 Receptor Deficiency Promotes Atherosclerosis in Apolipoprotein E(-/-) Mice.
These data clearly show a new and hitherto unsuspected role for MC1R in noncutaneous solid tissues before birth.
Title: Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (8) 1 citation
Targeted (4) 1 citation
Chemically induced (ENU) (3) 1 citation
Endonuclease-mediated (9)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D19S596 (e-PCR)
- UniSTS:42586

X65635 (e-PCR)
- UniSTS:159841

NoName (e-PCR)
- UniSTS:494955

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables G protein-coupled receptor activity	IEA Inferred from Electronic Annotation more info
enables melanocortin receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables melanocyte-stimulating hormone receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables melanocyte-stimulating hormone receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables melanocyte-stimulating hormone receptor activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in UV-damage excision repair	ISO Inferred from Sequence Orthology more info
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in intracellular signal transduction	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within melanin biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of tumor necrosis factor production	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within pigmentation	IMP Inferred from Mutant Phenotype more info
involved_in positive regulation of protein kinase A signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein kinase C signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of metabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within sensory perception of pain	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: melanocyte-stimulating hormone receptor

Names: MC1-R; MSH-R; extension recessive yellow; melanocortin receptor 1; tobacco darkening

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.