Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

P32245

- MC4R_HUMAN

UniProt

P32245 - MC4R_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Melanocortin receptor 4

Gene

MC4R

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

Functioni

Receptor specific to the heptapeptide core common to adrenocorticotropic hormone and alpha-, beta-, and gamma-MSH. Plays a central role in energy homeostasis and somatic growth. This receptor is mediated by G proteins that stimulate adenylate cyclase (cAMP).1 Publication

GO - Molecular functioni

  1. melanocortin receptor activity Source: ProtInc
  2. melanocyte-stimulating hormone receptor activity Source: UniProtKB
  3. neuropeptide binding Source: UniProtKB
  4. peptide hormone binding Source: Ensembl
  5. ubiquitin protein ligase binding Source: UniProtKB

GO - Biological processi

  1. adenylate cyclase-modulating G-protein coupled receptor signaling pathway Source: ProtInc
  2. diet induced thermogenesis Source: Ensembl
  3. energy reserve metabolic process Source: Ensembl
  4. feeding behavior Source: ProtInc
  5. insulin secretion Source: Ensembl
  6. negative regulation of feeding behavior Source: Ensembl
  7. positive regulation of bone resorption Source: HGNC
  8. positive regulation of cAMP biosynthetic process Source: BHF-UCL
  9. regulation of grooming behavior Source: Ensembl
  10. response to insulin 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.

Protein family/group databases

TCDBi9.A.14.2.3. the g-protein-coupled receptor (gpcr) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Melanocortin receptor 4
Short name:
MC4-R
Gene namesi
Name:MC4R
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 18

Organism-specific databases

HGNCiHGNC:6932. MC4R.

Subcellular locationi

GO - Cellular componenti

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

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Obesity (OBESITY) [MIM:601665]: A condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat.8 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Disease mutation, Obesity

Organism-specific databases

MIMi601665. phenotype.
Orphaneti71529. Obesity due to melanocortin 4 receptor deficiency.
PharmGKBiPA30676.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 332332Melanocortin receptor 4PRO_0000069722Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi3 – 31N-linked (GlcNAc...)Sequence Analysis
Glycosylationi17 – 171N-linked (GlcNAc...)Sequence Analysis
Glycosylationi26 – 261N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi84 – 84Interchain
Lipidationi318 – 3181S-palmitoyl cysteineSequence Analysis

Keywords - PTMi

Disulfide bond, Glycoprotein, Lipoprotein, Palmitate

Proteomic databases

PaxDbiP32245.
PRIDEiP32245.

PTM databases

PhosphoSiteiP32245.

Expressioni

Tissue specificityi

Brain, placental, and gut tissues.

Gene expression databases

BgeeiP32245.
CleanExiHS_MC4R.
ExpressionAtlasiP32245. baseline and differential.
GenevestigatoriP32245.

Organism-specific databases

HPAiHPA016719.

Interactioni

Subunit structurei

Interacts with ATRNL1 (By similarity). Homodimer; disulfide-linked, also forms higher order oligomers. Interacts with MGRN1, but does not undergo MGRN1-mediated ubiquitination; this interaction competes with GNAS-binding and thus inhibits agonist-induced cAMP production. Interacts with MRAP and MRAP2; these associated factors increase ligand-sensitivity and generation of cAMP.By similarity3 Publications

Protein-protein interaction databases

BioGridi110330. 6 interactions.
DIPiDIP-48791N.
IntActiP32245. 3 interactions.
STRINGi9606.ENSP00000299766.

Structurei

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2IQPmodel-A29-321[»]
2IQRmodel-A28-321[»]
2IQSmodel-A28-321[»]
2IQUmodel-A28-321[»]
2IQVmodel-A40-321[»]
2IQWmodel-A40-321[»]
ProteinModelPortaliP32245.
SMRiP32245. Positions 50-317.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 4343ExtracellularSequence AnalysisAdd
BLAST
Topological domaini70 – 8112CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini107 – 12317ExtracellularSequence AnalysisAdd
BLAST
Topological domaini146 – 16520CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini187 – 1915ExtracellularSequence Analysis
Topological domaini216 – 24833CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini272 – 2809ExtracellularSequence Analysis
Topological domaini305 – 33228CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei44 – 6926Helical; Name=1Sequence AnalysisAdd
BLAST
Transmembranei82 – 10625Helical; Name=2Sequence AnalysisAdd
BLAST
Transmembranei124 – 14522Helical; Name=3Sequence AnalysisAdd
BLAST
Transmembranei166 – 18621Helical; Name=4Sequence AnalysisAdd
BLAST
Transmembranei192 – 21524Helical; Name=5Sequence AnalysisAdd
BLAST
Transmembranei249 – 27123Helical; Name=6Sequence AnalysisAdd
BLAST
Transmembranei281 – 30424Helical; 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

eggNOGiNOG269550.
GeneTreeiENSGT00760000118804.
HOGENOMiHOG000246927.
HOVERGENiHBG108148.
InParanoidiP32245.
KOiK04202.
OMAiTSLHFWN.
OrthoDBiEOG7QK0CF.
PhylomeDBiP32245.
TreeFamiTF332646.

Family and domain databases

Gene3Di1.20.1070.10. 1 hit.
InterProiIPR000276. GPCR_Rhodpsn.
IPR017452. GPCR_Rhodpsn_7TM.
IPR000155. Mcort_rcpt_4.
IPR001908. Melancort_rcpt.
IPR001671. Melcrt_ACTH_rcpt.
[Graphical view]
PfamiPF00001. 7tm_1. 1 hit.
[Graphical view]
PRINTSiPR00237. GPCRRHODOPSN.
PR00534. MCRFAMILY.
PR00535. MELNOCORTINR.
PR01062. MELNOCORTN4R.
PROSITEiPS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P32245-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MVNSTHRGMH TSLHLWNRSS YRLHSNASES LGKGYSDGGC YEQLFVSPEV
60 70 80 90 100
FVTLGVISLL ENILVIVAIA KNKNLHSPMY FFICSLAVAD MLVSVSNGSE
110 120 130 140 150
TIVITLLNST DTDAQSFTVN IDNVIDSVIC SSLLASICSL LSIAVDRYFT
160 170 180 190 200
IFYALQYHNI MTVKRVGIII SCIWAACTVS GILFIIYSDS SAVIICLITM
210 220 230 240 250
FFTMLALMAS LYVHMFLMAR LHIKRIAVLP GTGAIRQGAN MKGAITLTIL
260 270 280 290 300
IGVFVVCWAP FFLHLIFYIS CPQNPYCVCF MSHFNLYLIL IMCNSIIDPL
310 320 330
IYALRSQELR KTFKEIICCY PLGGLCDLSS RY
Length:332
Mass (Da):36,943
Last modified:October 25, 2004 - v2
Checksum:iE80010BAADBED2B4
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti169 – 1691I → S in AAB33341. (PubMed:7854347)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti11 – 111T → A in obesity; partial activity. 1 Publication
VAR_038632
Natural varianti30 – 301S → R in obesity. 1 Publication
VAR_010704
Natural varianti36 – 361S → Y in obesity; shows the same affinity as the wild-type but significant impairment of cAMP-induced activity in response to melanotan II compared with the wild-type receptor. 1 Publication
VAR_038633
Natural varianti37 – 371D → V in obesity. 1 Publication
Corresponds to variant rs13447325 [ dbSNP | Ensembl ].
VAR_010705
Natural varianti50 – 501V → M in obesity. 1 Publication
VAR_038634
Natural varianti58 – 581S → C in obesity. 1 Publication
VAR_038635
Natural varianti62 – 621N → S in obesity; shows a partial cAMP response to alpha-MSH. 2 Publications
VAR_038636
Natural varianti78 – 781P → L in obesity. 1 Publication
Corresponds to variant rs13447326 [ dbSNP | Ensembl ].
VAR_010706
Natural varianti88 – 925Missing in obesity; the mutant receptor is expressed well on the cell surface but is completely devoid of ligand binding and cAMP generation in response to agonist stimulation. 1 Publication
VAR_038637
Natural varianti97 – 971N → D in obesity; completely unable to generate cAMP in response to ligand; shows evidence of impaired cell surface expression. 2 Publications
VAR_038638
Natural varianti102 – 1021I → S in obesity; shows the same affinity as the wild-type but significant impairment of cAMP-induced activity in response to melanotan II compared with the wild-type receptor. 1 Publication
VAR_038639
Natural varianti102 – 1021I → T in obesity. 1 Publication
VAR_038640
Natural varianti103 – 1031V → I.6 Publications
Corresponds to variant rs2229616 [ dbSNP | Ensembl ].
VAR_010707
Natural varianti106 – 1061L → P in obesity; completely unable to generate cAMP in response to ligand; shows evidence of impaired cell surface expression. 1 Publication
VAR_038641
Natural varianti112 – 1121T → M Polymorphism with no effect on MC4R signaling. 4 Publications
Corresponds to variant rs13447329 [ dbSNP | Ensembl ].
VAR_010708
Natural varianti125 – 1251I → K in obesity; completely unable to generate cAMP in response to ligand; shows evidence of impaired cell surface expression. 2 Publications
VAR_038642
Natural varianti127 – 1271S → L in obesity; signaling properties in response to alpha-MSH, beta-MSH and gamma-1-MSH are impaired. 1 Publication
Corresponds to variant rs13447331 [ dbSNP | Ensembl ].
VAR_038643
Natural varianti165 – 1651R → Q in obesity; shows a partial cAMP response to alpha-MSH. 3 Publications
Corresponds to variant rs13447332 [ dbSNP | Ensembl ].
VAR_038644
Natural varianti165 – 1651R → W in obesity. 1 Publication
Corresponds to variant rs13447332 [ dbSNP | Ensembl ].
VAR_010709
Natural varianti170 – 1701I → V in obesity. 1 Publication
Corresponds to variant rs121913560 [ dbSNP | Ensembl ].
VAR_038645
Natural varianti175 – 1751A → T in obesity; shows a partial cAMP response to alpha-MSH. 3 Publications
VAR_038646
Natural varianti181 – 1811G → D in obesity; does not bind alpha-MSH. 1 Publication
Corresponds to variant rs13447333 [ dbSNP | Ensembl ].
VAR_038647
Natural varianti219 – 2191A → V in obesity; shows significantly impairment of cAMP-induced activity in response to melanotan II compared with the wild-type receptor. 1 Publication
VAR_038648
Natural varianti226 – 2261I → T.1 Publication
VAR_038649
Natural varianti251 – 2511I → L.5 Publications
Corresponds to variant rs52820871 [ dbSNP | Ensembl ].
VAR_010710
Natural varianti252 – 2521G → S in obesity. 1 Publication
Corresponds to variant rs13447336 [ dbSNP | Ensembl ].
VAR_010711
Natural varianti253 – 2531V → I in obesity; shows a partial cAMP response to alpha-MSH. 1 Publication
Corresponds to variant rs187152753 [ dbSNP | Ensembl ].
VAR_038650
Natural varianti271 – 2711C → R in obesity; completely unable to generate cAMP in response to ligand; shows impaired cell surface expression. 1 Publication
VAR_038651
Natural varianti271 – 2711C → Y in obesity; no activity. 2 Publications
VAR_038652
Natural varianti274 – 2741N → S in obesity. 1 Publication
VAR_015357
Natural varianti316 – 3161I → S in obesity; shows reduced cAMP response to alpha-MSH; retains normal affinity for the antagonist AGRP. 2 Publications
VAR_038653
Natural varianti317 – 3171I → T in obesity. 1 Publication
Corresponds to variant rs13447337 [ dbSNP | Ensembl ].
VAR_010712
Natural varianti325 – 3251L → F in obesity; does not bind alpha-MSH. 1 Publication
VAR_038654

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
L08603 Genomic DNA. Translation: AAA35791.1.
S77415 Genomic DNA. Translation: AAB33341.1.
AY236539 Genomic DNA. Translation: AAO92061.1.
AK314130 mRNA. Translation: BAG36820.1.
CH471096 Genomic DNA. Translation: EAW63105.1.
BC069172 mRNA. Translation: AAH69172.1.
BC101802 mRNA. Translation: AAI01803.1.
BC111992 mRNA. Translation: AAI11993.1.
CCDSiCCDS11976.1.
PIRiA57055.
RefSeqiNP_005903.2. NM_005912.2.
UniGeneiHs.532833.

Genome annotation databases

EnsembliENST00000299766; ENSP00000299766; ENSG00000166603.
GeneIDi4160.
KEGGihsa:4160.
UCSCiuc002lie.1. human.

Polymorphism databases

DMDMi60392672.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Wikipedia

Melanocortin receptor entry

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
L08603 Genomic DNA. Translation: AAA35791.1 .
S77415 Genomic DNA. Translation: AAB33341.1 .
AY236539 Genomic DNA. Translation: AAO92061.1 .
AK314130 mRNA. Translation: BAG36820.1 .
CH471096 Genomic DNA. Translation: EAW63105.1 .
BC069172 mRNA. Translation: AAH69172.1 .
BC101802 mRNA. Translation: AAI01803.1 .
BC111992 mRNA. Translation: AAI11993.1 .
CCDSi CCDS11976.1.
PIRi A57055.
RefSeqi NP_005903.2. NM_005912.2.
UniGenei Hs.532833.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2IQP model - A 29-321 [» ]
2IQR model - A 28-321 [» ]
2IQS model - A 28-321 [» ]
2IQU model - A 28-321 [» ]
2IQV model - A 40-321 [» ]
2IQW model - A 40-321 [» ]
ProteinModelPortali P32245.
SMRi P32245. Positions 50-317.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110330. 6 interactions.
DIPi DIP-48791N.
IntActi P32245. 3 interactions.
STRINGi 9606.ENSP00000299766.

Chemistry

BindingDBi P32245.
ChEMBLi CHEMBL2111323.
GuidetoPHARMACOLOGYi 285.

Protein family/group databases

TCDBi 9.A.14.2.3. the g-protein-coupled receptor (gpcr) family.
GPCRDBi Search...

PTM databases

PhosphoSitei P32245.

Polymorphism databases

DMDMi 60392672.

Proteomic databases

PaxDbi P32245.
PRIDEi P32245.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000299766 ; ENSP00000299766 ; ENSG00000166603 .
GeneIDi 4160.
KEGGi hsa:4160.
UCSCi uc002lie.1. human.

Organism-specific databases

CTDi 4160.
GeneCardsi GC18M058011.
HGNCi HGNC:6932. MC4R.
HPAi HPA016719.
MIMi 155541. gene.
601665. phenotype.
neXtProti NX_P32245.
Orphaneti 71529. Obesity due to melanocortin 4 receptor deficiency.
PharmGKBi PA30676.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG269550.
GeneTreei ENSGT00760000118804.
HOGENOMi HOG000246927.
HOVERGENi HBG108148.
InParanoidi P32245.
KOi K04202.
OMAi TSLHFWN.
OrthoDBi EOG7QK0CF.
PhylomeDBi P32245.
TreeFami TF332646.

Enzyme and pathway databases

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

Miscellaneous databases

GeneWikii Melanocortin_4_receptor.
GenomeRNAii 4160.
NextBioi 16390.
PROi P32245.
SOURCEi Search...

Gene expression databases

Bgeei P32245.
CleanExi HS_MC4R.
ExpressionAtlasi P32245. baseline and differential.
Genevestigatori P32245.

Family and domain databases

Gene3Di 1.20.1070.10. 1 hit.
InterProi IPR000276. GPCR_Rhodpsn.
IPR017452. GPCR_Rhodpsn_7TM.
IPR000155. Mcort_rcpt_4.
IPR001908. Melancort_rcpt.
IPR001671. Melcrt_ACTH_rcpt.
[Graphical view ]
Pfami PF00001. 7tm_1. 1 hit.
[Graphical view ]
PRINTSi PR00237. GPCRRHODOPSN.
PR00534. MCRFAMILY.
PR00535. MELNOCORTINR.
PR01062. MELNOCORTN4R.
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, expression, and gene localization of a fourth melanocortin receptor."
    Gantz I., Miwa H., Konda Y., Shimoto Y., Tashiro T., Waston S.J., Delvalle J.
    J. Biol. Chem. 268:15174-15179(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ILE-103.
  2. "Localization of the melanocortin-4 receptor (MC4-R) in neuroendocrine and autonomic control circuits in the brain."
    Mountjoy K.G., Mortrud M.T., Low M.J., Simerly R.B., Cone R.D.
    Mol. Endocrinol. 8:1298-1308(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ILE-103.
  3. "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].
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Subthalamic nucleus.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "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].
    Tissue: Brain.
  7. Cited for: INTERACTION WITH MRAP AND MRAP2.
  8. "Mahogunin ring finger-1 (MGRN1) E3 ubiquitin ligase inhibits signaling from melanocortin receptor by competition with Galphas."
    Perez-Oliva A.B., Olivares C., Jimenez-Cervantes C., Garcia-Borron J.C.
    J. Biol. Chem. 284:31714-31725(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH MGRN1.
  9. "The melanocortin 4 receptor: oligomer formation, interaction sites and functional significance."
    Chapman K.L., Findlay J.B.
    Biochim. Biophys. Acta 1828:535-542(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERCHAIN DISULFIDE BOND, SUBUNIT.
  10. "Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans."
    Hinney A., Schmidt A., Nottebom K., Heibult O., Becker I., Ziegler A., Gerber G., Sina M., Gorg T., Mayer H., Siegfried W., Fichter M., Remschmidt H., Hebebrand J.
    J. Clin. Endocrinol. Metab. 84:1483-1486(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS OBESITY ARG-30; VAL-37; LEU-78; TRP-165; SER-252 AND THR-317, VARIANTS MET-112 AND LEU-251.
  11. "A novel melanocortin 4 receptor (MC4R) gene mutation associated with morbid obesity."
    Mergen M., Mergen H., Ozata M., Oner R., Oner C.
    J. Clin. Endocrinol. Metab. 86:3448-3448(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT OBESITY SER-274.
  12. "Mutational analysis of melanocortin-4 receptor, agouti-related protein, and alpha-melanocyte-stimulating hormone genes in severely obese children."
    Dubern B., Clement K., Pelloux V., Froguel P., Girardet J.-P., Guy-Grand B., Tounian P.
    J. Pediatr. 139:204-209(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS OBESITY MET-50; CYS-58; SER-102 AND VAL-170, VARIANTS ILE-103 AND LEU-251.
  13. "Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms."
    Yeo G.S.H., Lank E.J., Farooqi I.S., Keogh J., Challis B.G., O'Rahilly S.
    Hum. Mol. Genet. 12:561-574(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS OBESITY SER-62; ASP-97; PRO-106; LYS-125; GLN-165; THR-175; ILE-253; TYR-271 AND SER-316, CHARACTERIZATION OF VARIANTS OBESITY SER-62; ASP-97; PRO-106; LYS-125; GLN-165; THR-175; ILE-253; TYR-271 AND SER-316.
  14. "Deletion of codons 88-92 of the melanocortin-4 receptor gene: a novel deleterious mutation in an obese female."
    Donohoue P.A., Tao Y.-X., Collins M., Yeo G.S.H., O'Rahilly S., Segaloff D.L.
    J. Clin. Endocrinol. Metab. 88:5841-5845(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT OBESITY 88-VAL--LEU-92 DEL, CHARACTERIZATION OF VARIANT OBESITY 88-VAL--LEU-92 DEL.
  15. "Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene."
    Farooqi I.S., Keogh J.M., Yeo G.S.H., Lank E.J., Cheetham T., O'Rahilly S.
    N. Engl. J. Med. 348:1085-1095(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS OBESITY ALA-11; SER-62; ASP-97; LYS-125; GLN-165; THR-175; TYR-271; ARG-271 AND SER-316, VARIANTS ILE-103; MET-112 AND LEU-251, CHARACTERIZATION OF VARIANTS OBESITY ALA-11; SER-62; ASP-97; LYS-125; GLN-165; THR-175; TYR-271 AND SER-316, CHARACTERIZATION OF VARIANTS ILE-103; MET-112 AND LEU-251, FUNCTION.
  16. "Identification and characterization of melanocortin-4 receptor gene mutations in morbidly obese Finnish children and adults."
    Valli-Jaakola K., Lipsanen-Nyman M., Oksanen L., Hollenberg A.N., Kontula K., Bjoerbaek C., Schalin-Jaentti C.
    J. Clin. Endocrinol. Metab. 89:940-945(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT OBESITY LEU-127, VARIANTS ILE-103; MET-112; THR-226 AND LEU-251, CHARACTERIZATION OF VARIANT OBESITY LEU-127, CHARACTERIZATION OF VARIANTS MET-112 AND THR-226.
  17. "Prevalence of mutations and functional analyses of melanocortin 4 receptor variants identified among 750 men with juvenile-onset obesity."
    Larsen L.H., Echwald S.M., Soerensen T.I.A., Andersen T., Wulff B.S., Pedersen O.
    J. Clin. Endocrinol. Metab. 90:219-224(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS OBESITY TYR-36; THR-102; GLN-165; THR-175; ASP-181; VAL-219 AND PHE-325, VARIANTS ILE-103; MET-112 AND LEU-251, CHARACTERIZATION OF VARIANTS OBESITY TYR-36; THR-102; GLN-165; ASP-181; VAL-219 AND PHE-325.

Entry informationi

Entry nameiMC4R_HUMAN
AccessioniPrimary (citable) accession number: P32245
Secondary accession number(s): B2RAC3, Q16317, Q3MIJ6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1993
Last sequence update: October 25, 2004
Last modified: October 29, 2014
This is version 155 of the entry and version 2 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. 7-transmembrane G-linked receptors
    List of 7-transmembrane G-linked receptor entries
  2. Human chromosome 18
    Human chromosome 18: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3