Human Gene MC3R (ENST00000243911.2_4) from GENCODE V47lift37
  Description: melanocortin 3 receptor (from RefSeq NM_019888.3)
Gencode Transcript: ENST00000243911.2_4
Gencode Gene: ENSG00000124089.4_7
Transcript (Including UTRs)
   Position: hg19 chr20:54,823,788-54,824,871 Size: 1,084 Total Exon Count: 1 Strand: +
Coding Region
   Position: hg19 chr20:54,823,900-54,824,871 Size: 972 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:54,823,788-54,824,871)mRNA (may differ from genome)Protein (323 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MC3R_HUMAN
DESCRIPTION: RecName: Full=Melanocortin receptor 3; Short=MC3-R;
FUNCTION: Receptor for MSH (alpha, beta and gamma) and ACTH. This receptor is mediated by G proteins which activate adenylate cyclase.
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Brain, placental, and gut tissues.
POLYMORPHISM: Genetic variations in MC3R define the body mass index quantitative trait locus 9 (BMIQ9) [MIM:602025]. Variance in body mass index is a susceptibility factor for obesity.
SIMILARITY: Belongs to the G-protein coupled receptor 1 family.
SEQUENCE CAUTION: Sequence=AAC13541.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAH69105.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAH69599.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAH96702.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAH96737.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAH98169.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAH98351.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAO72726.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MC3R
Diseases sorted by gene-association score: obesity, severe bmiq9* (575), obesity susceptibility, mc3r-related* (100), obesity (13), tricuspid valve insufficiency (12), morbid obesity (9), tricuspid valve disease (9), pituitary-dependent cushing's disease (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.24 RPKM in Brain - Hypothalamus
Total median expression: 0.38 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -31.90112-0.285 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000276 - 7TM_GPCR_Rhodpsn
IPR017452 - GPCR_Rhodpsn_supfam
IPR002122 - Mcort_3_rcpt
IPR001908 - Melancort_rcpt
IPR001671 - Melcrt_ACTH_rcpt

Pfam Domains:
PF00001 - 7 transmembrane receptor (rhodopsin family)
PF10320 - Serpentine type 7TM GPCR chemoreceptor Srsx
PF13853 - Olfactory receptor

SCOP Domains:
81321 - Family A G protein-coupled receptor-like

ModBase Predicted Comparative 3D Structure on P41968
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004871 signal transducer activity
GO:0004930 G-protein coupled receptor activity
GO:0004977 melanocortin receptor activity
GO:0004980 melanocyte-stimulating hormone receptor activity
GO:0005515 protein binding
GO:0017046 peptide hormone binding
GO:0042923 neuropeptide binding

Biological Process:
GO:0002027 regulation of heart rate
GO:0007165 signal transduction
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007187 G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger
GO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway
GO:0007189 adenylate cyclase-activating G-protein coupled receptor signaling pathway
GO:0007200 phospholipase C-activating G-protein coupled receptor signaling pathway
GO:0008217 regulation of blood pressure
GO:0032922 circadian regulation of gene expression
GO:0042309 homoiothermy
GO:0045475 locomotor rhythm
GO:0048511 rhythmic process
GO:0055078 sodium ion homeostasis
GO:0060259 regulation of feeding behavior

Cellular Component:
GO:0005622 intracellular
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  BC069105 - Homo sapiens melanocortin 3 receptor, mRNA (cDNA clone MGC:95382 IMAGE:7216921), complete cds.
CU686926 - Synthetic construct Homo sapiens gateway clone IMAGE:100022683 5' read MC3R mRNA.
AB529241 - Synthetic construct DNA, clone: pF1KE0805, Homo sapiens MC3R gene for melanocortin 3 receptor, without stop codon, in Flexi system.
HQ447472 - Synthetic construct Homo sapiens clone IMAGE:100070801; CCSB013901_01 melanocortin 3 receptor (MC3R) gene, encodes complete protein.
KJ897172 - Synthetic construct Homo sapiens clone ccsbBroadEn_06566 MC3R gene, encodes complete protein.
AY227893 - Homo sapiens melanocortin 3 receptor (MC3R) mRNA, complete cds.
BC069591 - Homo sapiens cDNA clone IMAGE:7262258, containing frame-shift errors.
BC069599 - Homo sapiens melanocortin 3 receptor, mRNA (cDNA clone MGC:97059 IMAGE:7262270), complete cds.
BC096702 - Homo sapiens melanocortin 3 receptor, mRNA (cDNA clone MGC:119971 IMAGE:40016185), complete cds.
BC096737 - Homo sapiens melanocortin 3 receptor, mRNA (cDNA clone MGC:119973 IMAGE:40016189), complete cds.
BC098169 - Homo sapiens melanocortin 3 receptor, mRNA (cDNA clone MGC:119972 IMAGE:40016186), complete cds.
BC098351 - Homo sapiens melanocortin 3 receptor, mRNA (cDNA clone MGC:119970 IMAGE:40016184), complete cds.
KJ891589 - Synthetic construct Homo sapiens clone ccsbBroadEn_00983 MC3R gene, encodes complete protein.
KR711832 - Synthetic construct Homo sapiens clone CCSBHm_00031265 MC3R (MC3R) mRNA, encodes complete protein.
KR711833 - Synthetic construct Homo sapiens clone CCSBHm_00031270 MC3R (MC3R) mRNA, encodes complete protein.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P41968 (Reactome details) participates in the following event(s):

R-HSA-388596 Melanocortin receptors bind melanocortins
R-HSA-744886 The Ligand:GPCR:Gs complex dissociates
R-HSA-744887 Liganded Gs-activating GPCRs bind inactive heterotrimeric Gs
R-HSA-379044 Liganded Gs-activating GPCR acts as a GEF for Gs
R-HSA-375276 Peptide ligand-binding receptors
R-HSA-418555 G alpha (s) signalling events
R-HSA-373076 Class A/1 (Rhodopsin-like receptors)
R-HSA-388396 GPCR downstream signalling
R-HSA-500792 GPCR ligand binding
R-HSA-372790 Signaling by GPCR
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000243911.1, MC3R_HUMAN, NM_019888, P41968, Q4KN27, Q9H517, uc317ene.1, uc317ene.2
UCSC ID: ENST00000243911.2_4
RefSeq Accession: NM_019888.3
Protein: P41968 (aka MC3R_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.