Adrenocorticotropic hormone receptor

Details

Name
Adrenocorticotropic hormone receptor
Synonyms
  • ACTH receptor
  • ACTHR
  • Adrenocorticotropin receptor
  • MC2-R
  • Melanocortin receptor 2
Gene Name
MC2R
Organism
Humans
Amino acid sequence
>lcl|BSEQ0010598|Adrenocorticotropic hormone receptor
MKHIINSYENINNTARNNSDCPRVVLPEEIFFTISIVGVLENLIVLLAVFKNKNLQAPMY
FFICSLAISDMLGSLYKILENILIILRNMGYLKPRGSFETTADDIIDSLFVLSLLGSIFS
LSVIAADRYITIFHALRYHSIVTMRRTVVVLTVIWTFCTGTGITMVIFSHHVPTVITFTS
LFPLMLVFILCLYVHMFLLARSHTRKISTLPRANMKGAITLTILLGVFIFCWAPFVLHVL
LMTFCPSNPYCACYMSLFQVNGMLIMCNAVIDPFIYAFRSPELRDAFKKMIFCSRYW
Number of residues
297
Molecular Weight
33926.28
Theoretical pI
8.82
GO Classification
Functions
corticotropin receptor activity / melanocortin receptor activity
Processes
G-protein coupled receptor signaling pathway / G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger / neuropeptide signaling pathway / placenta development / positive regulation of cAMP biosynthetic process
Components
cytoplasm / integral component of plasma membrane / plasma membrane
General Function
Melanocortin receptor activity
Specific Function
Receptor for corticotropin (ACTH). This receptor is mediated by G proteins (G(s)) which activate adenylate cyclase (cAMP).
Pfam Domain Function
Transmembrane Regions
24-49 59-79 105-126 148-168 181-199 218-244 257-278
Cellular Location
Cell membrane
Gene sequence
>lcl|BSEQ0010599|Adrenocorticotropic hormone receptor (MC2R)
ATGAAGCACATTATCAACTCGTATGAAAACATCAACAACACAGCAAGAAATAATTCCGAC
TGTCCTCGTGTGGTTTTGCCGGAGGAGATATTTTTCACAATTTCCATTGTTGGAGTTTTG
GAGAATCTGATCGTCCTGCTGGCTGTGTTCAAGAATAAGAATCTCCAGGCACCCATGTAC
TTTTTCATCTGTAGCTTGGCCATATCTGATATGCTGGGCAGCCTATATAAGATCTTGGAA
AATATCCTGATCATATTGAGAAACATGGGCTATCTCAAGCCACGTGGCAGTTTTGAAACC
ACAGCCGATGACATCATCGACTCCCTGTTTGTCCTCTCCCTGCTTGGCTCCATCTTCAGC
CTGTCTGTGATTGCTGCGGACCGCTACATCACCATCTTCCACGCACTGCGGTACCACAGC
ATCGTGACCATGCGCCGCACTGTGGTGGTGCTTACGGTCATCTGGACGTTCTGCACGGGG
ACTGGCATCACCATGGTGATCTTCTCCCATCATGTGCCCACAGTGATCACCTTCACGTCG
CTGTTCCCGCTGATGCTGGTCTTCATCCTGTGCCTCTATGTGCACATGTTCCTGCTGGCT
CGATCCCACACCAGGAAGATCTCCACCCTCCCCAGAGCCAACATGAAAGGGGCCATCACA
CTGACCATCCTGCTCGGGGTCTTCATCTTCTGCTGGGCCCCCTTTGTGCTTCATGTCCTC
TTGATGACATTCTGCCCAAGTAACCCCTACTGCGCCTGCTACATGTCTCTCTTCCAGGTG
AACGGCATGTTGATCATGTGCAATGCCGTCATTGACCCCTTCATATATGCCTTCCGGAGC
CCAGAGCTCAGGGACGCATTCAAAAAGATGATCTTCTGCAGCAGGTACTGGTAG
Chromosome Location
18
Locus
18p11.2
External Identifiers
ResourceLink
UniProtKB IDQ01718
UniProtKB Entry NameACTHR_HUMAN
GenBank Protein ID28344
GenBank Gene IDX65633
GenAtlas IDMC2R
HGNC IDHGNC:6930
General References
  1. Mountjoy KG, Robbins LS, Mortrud MT, Cone RD: The cloning of a family of genes that encode the melanocortin receptors. Science. 1992 Aug 28;257(5074):1248-51. [PubMed:1325670]
  2. 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 TO, 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: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed:14702039]
  3. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334]
  4. Gantz I, Konda Y, Tashiro T, Shimoto Y, Miwa H, Munzert G, Watson SJ, DelValle J, Yamada T: Molecular cloning of a novel melanocortin receptor. J Biol Chem. 1993 Apr 15;268(11):8246-50. [PubMed:8463333]
  5. Metherell LA, Chapple JP, Cooray S, David A, Becker C, Ruschendorf F, Naville D, Begeot M, Khoo B, Nurnberg P, Huebner A, Cheetham ME, Clark AJ: Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. Nat Genet. 2005 Feb;37(2):166-70. Epub 2005 Jan 16. [PubMed:15654338]
  6. Chan LF, Webb TR, Chung TT, Meimaridou E, Cooray SN, Guasti L, Chapple JP, Egertova M, Elphick MR, Cheetham ME, Metherell LA, Clark AJ: MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor family. Proc Natl Acad Sci U S A. 2009 Apr 14;106(15):6146-51. doi: 10.1073/pnas.0809918106. Epub 2009 Mar 27. [PubMed:19329486]
  7. Sebag JA, Hinkle PM: Regulation of G protein-coupled receptor signaling: specific dominant-negative effects of melanocortin 2 receptor accessory protein 2. Sci Signal. 2010 Apr 6;3(116):ra28. doi: 10.1126/scisignal.2000593. [PubMed:20371771]
  8. Clark AJ, McLoughlin L, Grossman A: Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor. Lancet. 1993 Feb 20;341(8843):461-2. [PubMed:8094489]
  9. Tsigos C, Arai K, Hung W, Chrousos GP: Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene. J Clin Invest. 1993 Nov;92(5):2458-61. [PubMed:8227361]
  10. Naville D, Barjhoux L, Jaillard C, Faury D, Despert F, Esteva B, Durand P, Saez JM, Begeot M: Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency. J Clin Endocrinol Metab. 1996 Apr;81(4):1442-8. [PubMed:8636348]
  11. Ishii T, Ogata T, Sasaki G, Sato S, Kinoshita EI, Matsuo N: Novel mutations of the ACTH receptor gene in a female adult patient with adrenal unresponsiveness to ACTH. Clin Endocrinol (Oxf). 2000 Sep;53(3):389-92. [PubMed:10971458]
  12. Fluck CE, Martens JW, Conte FA, Miller WL: Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay. J Clin Endocrinol Metab. 2002 Sep;87(9):4318-23. [PubMed:12213892]
  13. Mueller OT, Coovadia A: Novel human pathological mutations. Gene symbol: MC2R. Disease: Glucocorticoid deficiency. Hum Genet. 2010 Jan;127(1):112. [PubMed:20108423]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB01284TetracosactideapprovedyesantagonistDetails
DB01285Corticotropinapproved, investigational, vet_approvedyesagonistDetails
DB09334Seractide acetateapprovedyesagonistDetails
DB11653Bremelanotideapproved, investigationalunknownagonistDetails