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MC3R melanocortin 3 receptor [ Homo sapiens (human) ]

Gene ID: 4159, updated on 2-Nov-2024

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; AllianceGenome:HGNC:6931
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
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Genomic context

See MC3R in Genome Data Viewer
Location:
20q13.2
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (56248732..56249815)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (58023746..58024829)
RS_2024_09 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 NANOG hESC enhancer GRCh37_chr20:54792881-54793405 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13056 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:54834703-54835902 Neighboring gene Sharpr-MPRA regulatory region 10041 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13057 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:54937273-54937462 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:54938029-54938529 Neighboring gene family with sequence similarity 210 member B Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:54961142-54962341 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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables melanocortin receptor activity TAS
Traceable Author Statement
more info
PubMed 
enables melanocyte-stimulating hormone receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables melanocyte-stimulating hormone receptor activity IPI
Inferred from Physical Interaction
more info
PubMed 
enables neuropeptide binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables peptide hormone binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in 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)

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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.

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, Q4KN27, Q9H517
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    58023746..58024829
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)