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P41968

- MC3R_HUMAN

UniProt

P41968 - MC3R_HUMAN

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Protein

Melanocortin receptor 3

Gene

MC3R

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Receptor for MSH (alpha, beta and gamma) and ACTH. This receptor is mediated by G proteins which activate adenylate cyclase.

GO - Molecular functioni

  1. melanocortin receptor activity Source: ProtInc
  2. melanocyte-stimulating hormone receptor activity Source: BHF-UCL
  3. neuropeptide binding Source: UniProtKB
  4. peptide hormone binding Source: Ensembl

GO - Biological processi

  1. adenylate cyclase-modulating G-protein coupled receptor signaling pathway Source: Ensembl
  2. G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger Source: ProtInc
  3. homoiothermy Source: Ensembl
  4. phospholipase C-activating G-protein coupled receptor signaling pathway Source: ProtInc
  5. positive regulation of cAMP biosynthetic process Source: BHF-UCL
  6. regulation of blood pressure Source: Ensembl
  7. regulation of heart rate Source: Ensembl
  8. sodium ion homeostasis Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

G-protein coupled receptor, Receptor, Transducer

Enzyme and pathway databases

ReactomeiREACT_14819. Peptide ligand-binding receptors.
REACT_19327. G alpha (s) signalling events.

Names & Taxonomyi

Protein namesi
Recommended name:
Melanocortin receptor 3
Short name:
MC3-R
Gene namesi
Name:MC3R
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 20

Organism-specific databases

HGNCiHGNC:6931. MC3R.

Subcellular locationi

GO - Cellular componenti

  1. integral component of plasma membrane Source: ProtInc
  2. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

MIMi602025. phenotype.
Orphaneti217031. Obesity due to MC3R deficiency.
PharmGKBiPA30675.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 323323Melanocortin receptor 3PRO_0000069718Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi2 – 21N-linked (GlcNAc...)Sequence Analysis
Glycosylationi16 – 161N-linked (GlcNAc...)Sequence Analysis
Glycosylationi28 – 281N-linked (GlcNAc...)Sequence Analysis
Lipidationi315 – 3151S-palmitoyl cysteineSequence Analysis

Keywords - PTMi

Glycoprotein, Lipoprotein, Palmitate

Proteomic databases

PaxDbiP41968.
PRIDEiP41968.

Expressioni

Tissue specificityi

Brain, placental, and gut tissues.

Gene expression databases

BgeeiP41968.
CleanExiHS_MC3R.
GenevestigatoriP41968.

Interactioni

Protein-protein interaction databases

BioGridi110329. 1 interaction.
DIPiDIP-48790N.
IntActiP41968. 2 interactions.
STRINGi9606.ENSP00000243911.

Structurei

3D structure databases

ProteinModelPortaliP41968.
SMRiP41968. Positions 44-314.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 3737ExtracellularSequence AnalysisAdd
BLAST
Topological domaini64 – 7512CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini101 – 11818ExtracellularSequence AnalysisAdd
BLAST
Topological domaini141 – 16020CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini182 – 1865ExtracellularSequence Analysis
Topological domaini211 – 24535CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini269 – 2779ExtracellularSequence Analysis
Topological domaini302 – 32322CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei38 – 6326Helical; Name=1Sequence AnalysisAdd
BLAST
Transmembranei76 – 10025Helical; Name=2Sequence AnalysisAdd
BLAST
Transmembranei119 – 14022Helical; Name=3Sequence AnalysisAdd
BLAST
Transmembranei161 – 18121Helical; Name=4Sequence AnalysisAdd
BLAST
Transmembranei187 – 21024Helical; Name=5Sequence AnalysisAdd
BLAST
Transmembranei246 – 26823Helical; Name=6Sequence AnalysisAdd
BLAST
Transmembranei278 – 30124Helical; Name=7Sequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Belongs to the G-protein coupled receptor 1 family.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG325361.
GeneTreeiENSGT00760000118804.
HOGENOMiHOG000246927.
HOVERGENiHBG108148.
InParanoidiP41968.
KOiK04201.
OMAiVHMFLFA.
OrthoDBiEOG7QK0CF.
PhylomeDBiP41968.
TreeFamiTF332646.

Family and domain databases

Gene3Di1.20.1070.10. 1 hit.
InterProiIPR000276. GPCR_Rhodpsn.
IPR017452. GPCR_Rhodpsn_7TM.
IPR002122. Mcort_3_rcpt.
IPR001908. Melancort_rcpt.
IPR001671. Melcrt_ACTH_rcpt.
[Graphical view]
PANTHERiPTHR22750:SF4. PTHR22750:SF4. 1 hit.
PfamiPF00001. 7tm_1. 1 hit.
[Graphical view]
PRINTSiPR00237. GPCRRHODOPSN.
PR00534. MCRFAMILY.
PR00535. MELNOCORTINR.
PR01061. MELNOCORTN3R.
PROSITEiPS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P41968-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MNASCCLPSV QPTLPNGSEH LQAPFFSNQS SSAFCEQVFI KPEVFLSLGI
60 70 80 90 100
VSLLENILVI LAVVRNGNLH SPMYFFLCSL AVADMLVSVS NALETIMIAI
110 120 130 140 150
VHSDYLTFED QFIQHMDNIF DSMICISLVA SICNLLAIAV DRYVTIFYAL
160 170 180 190 200
RYHSIMTVRK ALTLIVAIWV CCGVCGVVFI VYSESKMVIV CLITMFFAMM
210 220 230 240 250
LLMGTLYVHM FLFARLHVKR IAALPPADGV APQQHSCMKG AVTITILLGV
260 270 280 290 300
FIFCWAPFFL HLVLIITCPT NPYCICYTAH FNTYLVLIMC NSVIDPLIYA
310 320
FRSLELRNTF REILCGCNGM NLG
Length:323
Mass (Da):36,043
Last modified:July 11, 2012 - v3
Checksum:i98B016FC80802A97
GO

Sequence cautioni

The sequence AAC13541.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
The sequence AAH69105.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
The sequence AAH69599.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
The sequence AAH96702.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
The sequence AAH96737.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
The sequence AAH98169.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
The sequence AAH98351.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
The sequence AAO72726.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Polymorphismi

Genetic variations in MC3R define the body mass index quantitative trait locus 9 (BMIQ9) [MIMi:602025]. Variance in body mass index is a susceptibility factor for obesity.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti44 – 441V → I Have ligand binding and signaling properties similar to wild-type. 1 Publication
Corresponds to variant rs3827103 [ dbSNP | Ensembl ].
VAR_020070
Natural varianti146 – 1461I → N Associated with susceptibility to obesity; completely lacks signaling in response to agonist stimulation; coexpression of the wild-type and the mutant receptor shows that it does not exert dominant-negative activity on wild-type. 1 Publication
VAR_055000
Natural varianti298 – 2981I → S Associated with susceptibility to obesity; in vitro expression studies demonstrate that the mutation causes complete loss of function; transfected cells show diffuse cytoplasmic staining indicating intracellular retention of the receptor. 1 Publication
VAR_055001

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
L06155 Genomic DNA. Translation: AAC13541.1. Different initiation.
AY227893 mRNA. Translation: AAO72726.1. Different initiation.
AL139824 Genomic DNA. Translation: CAC15480.2.
BC069105 mRNA. Translation: AAH69105.1. Different initiation.
BC069599 mRNA. Translation: AAH69599.1. Different initiation.
BC096702 mRNA. Translation: AAH96702.1. Different initiation.
BC096737 mRNA. Translation: AAH96737.1. Different initiation.
BC098169 mRNA. Translation: AAH98169.1. Different initiation.
BC098351 mRNA. Translation: AAH98351.1. Different initiation.
CCDSiCCDS13449.2.
PIRiB46647.
RefSeqiNP_063941.3. NM_019888.3.
UniGeneiHs.248018.

Genome annotation databases

EnsembliENST00000243911; ENSP00000243911; ENSG00000124089.
GeneIDi4159.
KEGGihsa:4159.
UCSCiuc002xxb.2. human.

Polymorphism databases

DMDMi395398606.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
L06155 Genomic DNA. Translation: AAC13541.1 . Different initiation.
AY227893 mRNA. Translation: AAO72726.1 . Different initiation.
AL139824 Genomic DNA. Translation: CAC15480.2 .
BC069105 mRNA. Translation: AAH69105.1 . Different initiation.
BC069599 mRNA. Translation: AAH69599.1 . Different initiation.
BC096702 mRNA. Translation: AAH96702.1 . Different initiation.
BC096737 mRNA. Translation: AAH96737.1 . Different initiation.
BC098169 mRNA. Translation: AAH98169.1 . Different initiation.
BC098351 mRNA. Translation: AAH98351.1 . Different initiation.
CCDSi CCDS13449.2.
PIRi B46647.
RefSeqi NP_063941.3. NM_019888.3.
UniGenei Hs.248018.

3D structure databases

ProteinModelPortali P41968.
SMRi P41968. Positions 44-314.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110329. 1 interaction.
DIPi DIP-48790N.
IntActi P41968. 2 interactions.
STRINGi 9606.ENSP00000243911.

Chemistry

BindingDBi P41968.
ChEMBLi CHEMBL2111323.
GuidetoPHARMACOLOGYi 284.

Protein family/group databases

GPCRDBi Search...

Polymorphism databases

DMDMi 395398606.

Proteomic databases

PaxDbi P41968.
PRIDEi P41968.

Protocols and materials databases

DNASUi 4159.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000243911 ; ENSP00000243911 ; ENSG00000124089 .
GeneIDi 4159.
KEGGi hsa:4159.
UCSCi uc002xxb.2. human.

Organism-specific databases

CTDi 4159.
GeneCardsi GC20P054823.
H-InvDB HIX0040556.
HGNCi HGNC:6931. MC3R.
MIMi 155540. gene.
602025. phenotype.
neXtProti NX_P41968.
Orphaneti 217031. Obesity due to MC3R deficiency.
PharmGKBi PA30675.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG325361.
GeneTreei ENSGT00760000118804.
HOGENOMi HOG000246927.
HOVERGENi HBG108148.
InParanoidi P41968.
KOi K04201.
OMAi VHMFLFA.
OrthoDBi EOG7QK0CF.
PhylomeDBi P41968.
TreeFami TF332646.

Enzyme and pathway databases

Reactomei REACT_14819. Peptide ligand-binding receptors.
REACT_19327. G alpha (s) signalling events.

Miscellaneous databases

GeneWikii Melanocortin_3_receptor.
GenomeRNAii 4159.
NextBioi 16386.
PROi P41968.
SOURCEi Search...

Gene expression databases

Bgeei P41968.
CleanExi HS_MC3R.
Genevestigatori P41968.

Family and domain databases

Gene3Di 1.20.1070.10. 1 hit.
InterProi IPR000276. GPCR_Rhodpsn.
IPR017452. GPCR_Rhodpsn_7TM.
IPR002122. Mcort_3_rcpt.
IPR001908. Melancort_rcpt.
IPR001671. Melcrt_ACTH_rcpt.
[Graphical view ]
PANTHERi PTHR22750:SF4. PTHR22750:SF4. 1 hit.
Pfami PF00001. 7tm_1. 1 hit.
[Graphical view ]
PRINTSi PR00237. GPCRRHODOPSN.
PR00534. MCRFAMILY.
PR00535. MELNOCORTINR.
PR01061. MELNOCORTN3R.
PROSITEi PS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning of a novel melanocortin receptor."
    Gantz I., Konda Y., Tashiro T., Shimoto Y., Miwa H., Munzert G., Watson S.J., Delvalle J., Yamada T.
    J. Biol. Chem. 268:8246-8250(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ILE-44.
  2. "cDNA clones of human proteins involved in signal transduction sequenced by the Guthrie cDNA resource center (www.cdna.org)."
    Kopatz S.A., Aronstam R.S., Sharma S.V.
    Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  3. "The DNA sequence and comparative analysis of human chromosome 20."
    Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
    , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
    Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  5. "Identification of the translation start site of the human melanocortin 3 receptor."
    Tarnow P., Rediger A., Schulz A., Gruters A., Biebermann H.
    Obes. Facts 5:45-51(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: TRANSLATIONAL START SITE.
  6. "A novel melanocortin 3 receptor gene (MC3R) mutation associated with severe obesity."
    Lee Y.-S., Poh L.K.-S., Loke K.-Y.
    J. Clin. Endocrinol. Metab. 87:1423-1426(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ASN-146, ASSOCIATION WITH SUSCEPTIBILITY TO OBESITY.
  7. "Functional characterization of melanocortin-3 receptor variants identify a loss-of-function mutation involving an amino acid critical for G protein-coupled receptor activation."
    Tao Y.-X., Segaloff D.L.
    J. Clin. Endocrinol. Metab. 89:3936-3942(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANTS ILE-44 AND ASN-146.
  8. Cited for: VARIANT SER-298, CHARACTERIZATION OF VARIANT SER-298, ASSOCIATION WITH SUSCEPTIBILITY TO OBESITY.

Entry informationi

Entry nameiMC3R_HUMAN
AccessioniPrimary (citable) accession number: P41968
Secondary accession number(s): Q4KN27, Q9H517
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: July 11, 2012
Last modified: October 29, 2014
This is version 134 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. 7-transmembrane G-linked receptors
    List of 7-transmembrane G-linked receptor entries
  2. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3