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MC3R melanocortin 3 receptor [ Homo sapiens (human) ]

Gene ID: 4159, updated on 28-Jun-2020

Summary

Official Symbol
MC3Rprovided by HGNC
Official Full Name
melanocortin 3 receptorprovided by HGNC
Primary source
HGNC:HGNC:6931
See related
Ensembl:ENSG00000124089 MIM:155540
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MC3; OB20; OQTL; BMIQ9; MC3-R
Summary
This gene encodes a G-protein-coupled receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone that is expressed in tissues other than the adrenal cortex and melanocytes. This gene maps to the same region as the locus for benign neonatal epilepsy. Mice deficient for this gene have increased fat mass despite decreased food intake, suggesting a role for this gene product in the regulation of energy homeostasis. Mutations in this gene are associated with a susceptibility to obesity in humans. [provided by RefSeq, Jul 2008]
Orthologs

Genomic context

See MC3R in Genome Data Viewer
Location:
20q13.2
Exon count:
1
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (56248732..56249815)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (54823788..54824871)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372680 Neighboring gene RNA, 5S ribosomal pseudogene 487 Neighboring gene family with sequence similarity 210 member B Neighboring gene aurora kinase A

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G protein-coupled receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
melanocortin receptor activity TAS
Traceable Author Statement
more info
PubMed 
melanocyte-stimulating hormone receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
melanocyte-stimulating hormone receptor activity IPI
Inferred from Physical Interaction
more info
PubMed 
neuropeptide binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
peptide hormone binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger TAS
Traceable Author Statement
more info
PubMed 
adenylate cyclase-activating G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
adenylate cyclase-activating G protein-coupled receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
circadian regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
homoiothermy IEA
Inferred from Electronic Annotation
more info
 
locomotor rhythm IEA
Inferred from Electronic Annotation
more info
 
phospholipase C-activating G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
regulation of blood pressure IEA
Inferred from Electronic Annotation
more info
 
regulation of feeding behavior IEA
Inferred from Electronic Annotation
more info
 
regulation of heart rate IEA
Inferred from Electronic Annotation
more info
 
regulation of metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sodium ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
melanocortin receptor 3
Names
obesity quantitative trait locus

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_012200.1 RefSeqGene

    Range
    5001..6084
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_019888.3NP_063941.3  melanocortin receptor 3

    See identical proteins and their annotated locations for NP_063941.3

    Status: REVIEWED

    Source sequence(s)
    BC069105
    Consensus CDS
    CCDS13449.2
    UniProtKB/Swiss-Prot
    P41968
    Related
    ENSP00000243911.2, ENST00000243911.2
    Conserved Domains (2) summary
    pfam00001
    Location:55299
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    cl21561
    Location:45170
    7tm_4; Olfactory receptor

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    56248732..56249815
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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