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Homo sapiens proopiomelanocortin (POMC), transcript variant 2, mRNA.
| RefSeq Version | NM_000939.2, 80861464 |
| Length | 1245 bp |
| Structure | linear |
| Update Date | 01-MAY-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens proopiomelanocortin (POMC), transcript variant 2, mRNA. |
| Product | pro-opiomelanocortin preproprotein |
| Comment | Summary: This gene encodes a polypeptide hormone precursor that undergoes extensive, tissue-specific, post-translational processing via cleavage by subtilisin-like enzymes known as prohormone convertases. There are eight potential cleavage sites within the polypeptide precursor and, depending on tissue type and the available convertases, processing may yield as many as ten biologically active peptides involved in diverse cellular functions. The encoded protein is synthesized mainly in corticotroph cells of the anterior pituitary where four cleavage sites are used; adrenocorticotrophin, essential for normal steroidogenesis and the maintenance of normal adrenal weight, and lipotropin beta are the major end products. In other tissues, including the hypothalamus, placenta, and epithelium, all cleavage sites may be used, giving rise to peptides with roles in pain and energy homeostasis, melanocyte stimulation, and immune modulation. These include several distinct melanotropins, lipotropins, and endorphins that are contained within the adrenocorticotrophin and beta-lipotropin peptides. Mutations in this gene have been associated with early onset obesity, adrenal insufficiency, and red hair pigmentation. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq]. Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein. |
| RefSeq | NP_000930.1 |
| CDS | 214..1017 | Exon (1) | 1..193 | Exon (2) | 1..193 | Exon (3) | 194..345 | Exon (4) | 346..1245 |
| Translation | MPRSCCSRSGALLLALLLQASMEVRGWCLESSQCQDLTTESNLLECIRACKPDLSAETPM
FPGNGDEQPLTENPRKYVMGHFRWDRFGRRNSSSSGSSGAGQKREDVSAGEDCGPLPEGG
PEPRSDGAKPGPREGKRSYSMEHFRWGKPVGKKRRPVKVYPNGAEDESAEAFPLEFKREL
TGQRLREGDGPDGPADDGAGAQADLEHSLLVAAEKKDEGPYRMEHFRWGSPPKDKRYGGF
MTSEKSQTPLVTLFKNAIIKNAYKKGE
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| Position | Chain | Variation | Link |
| 123 | + | a, g | dbSNP:35449292 |
| 231 | + | c, t | dbSNP:8192605 |
| 364 | + | a, t | dbSNP:121918112 |
| 371 | + | a, g | dbSNP:28932470 |
| 398 | + | c, t | dbSNP:28932471 |
| 495 | + | c, t | dbSNP:28930368 |
| complement(497) | - | t, c | dbSNP:114208189 |
| 502 | + | , agcagcggc | dbSNP:35254395 |
| complement(510..511) | - | , gccgctgct | dbSNP:10654394 |
| 526 | + | g, t | dbSNP:121918111 |
| 559 | + | c, t | dbSNP:34650613 |
| 607 | + | c, g | dbSNP:8192606 |
| 647 | + | g, t | dbSNP:45463492 |
| 795 | + | g, t | dbSNP:76413544 |
| 798 | + | c, t | dbSNP:2071345 |
| 854 | + | a, g | dbSNP:80326661 |
| 919 | + | c, g | dbSNP:28932472 |
| complement(1027) | - | , c | dbSNP:35411223 |
| 1068 | + | a, g | dbSNP:15461 |
| 1071 | + | c, t | dbSNP:35023083 |
| 1080 | + | c, t | dbSNP:1042571 |
| complement(1087) | - | g, a | dbSNP:11679531 |
| Gene Symbol | POMC |
| Gene Synonym | ACTH; CLIP; LPH; MSH; NPP; POC |
| Chromosome | 2 |
| Locus Map | 2p23.3 |
| All Transcripts | NM_001035256 , NM_000939 |
| Title | Spatial and temporal localization of the melanocortin 1 receptor and its ligand alpha-melanocyte-stimulating hormone during cutaneous wound repair . |
| Author | Muffley,L.A., Zhu,K.Q., Engrav,L.H., Gibran,N.S. and Hocking,A.M. |
| Journal | J. Histochem. Cytochem. 59 (3), 278-288 (2011) |
| Title | 5-HT2CRs expressed by pro-opiomelanocortin neurons regulate insulin sensitivity in liver . |
| Author | Xu,Y., Berglund,E.D., Sohn,J.W., Holland,W.L., Chuang,J.C., Fukuda,M., Rossi,J., Williams,K.W., Jones,J.E., Zigman,J.M., Lowell,B.B., Scherer,P.E. and Elmquist,J.K. |
| Journal | Nat. Neurosci. 13 (12), 1457-1459 (2010) |
| Title | Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index . |
| Author | Speliotes,E.K., Willer,C.J., Berndt,S.I., Monda,K.L., Thorleifsson,G., Jackson,A.U., Allen,H.L., Lindgren,C.M., Luan,J., Magi,R., Randall,J.C., Vedantam,S., Winkler,T.W., Qi,L., Workalemahu,T., Heid,I.M., Steinthorsdottir,V., Stringham,H.M., Weedon,M.N., Wheeler,E., Wood,A.R., Ferreira,T., Weyant,R.J., Segre,A.V., Estrada,K., Liang,L., Nemesh,J., Park,J.H., Gustafsson,S., Kilpelainen,T.O., Yang,J., Bouatia-Naji,N., Esko,T., Feitosa,M.F., Kutalik,Z., Mangino,M., Raychaudhuri,S., Scherag,A., Smith,A.V., Welch,R., Zhao,J.H., Aben,K.K., Absher,D.M., Amin,N., Dixon,A.L., Fisher,E., Glazer,N.L., Goddard,M.E., Heard-Costa,N.L., Hoesel,V., Hottenga,J.J., Johansson,A., Johnson,T., Ketkar,S., Lamina,C., Li,S., Moffatt,M.F., Myers,R.H., Narisu,N., Perry,J.R., Peters,M.J., Preuss,M., Ripatti,S., Rivadeneira,F., Sandholt,C., Scott,L.J., Timpson,N.J., Tyrer,J.P., van Wingerden,S., Watanabe,R.M., White,C.C., Wiklund,F., Barlassina,C., Chasman,D.I., Cooper,M.N., Jansson,J.O., Lawrence,R.W., Pellikka,N., Prokopenko,I., Shi,J., Thiering,E., Alavere,H., Alibrandi,M.T., Almgren,P., Arnold,A.M., Aspelund,T., Atwood,L.D., Balkau,B., Balmforth,A.J., Bennett,A.J., Ben-Shlomo,Y., Bergman,R.N., Bergmann,S., Biebermann,H., Blakemore,A.I., Boes,T., Bonnycastle,L.L., Bornstein,S.R., Brown,M.J., Buchanan,T.A., Busonero,F., Campbell,H., Cappuccio,F.P., Cavalcanti-Proenca,C., Chen,Y.D., Chen,C.M., Chines,P.S., Clarke,R., Coin,L., Connell,J., Day,I.N., Heijer,M., Duan,J., Ebrahim,S., Elliott,P., Elosua,R., Eiriksdottir,G., Erdos,M.R., Eriksson,J.G., Facheris,M.F., Felix,S.B., Fischer-Posovszky,P., Folsom,A.R., Friedrich,N., Freimer,N.B., Fu,M., Gaget,S., Gejman,P.V., Geus,E.J., Gieger,C., Gjesing,A.P., Goel,A., Goyette,P., Grallert,H., Grassler,J., Greenawalt,D.M., Groves,C.J., Gudnason,V., Guiducci,C., Hartikainen,A.L., Hassanali,N., Hall,A.S., Havulinna,A.S., Hayward,C., Heath,A.C., Hengstenberg,C., Hicks,A.A., Hinney,A., Hofman,A., Homuth,G., Hui,J., Igl,W., Iribarren,C., Isomaa,B., Jacobs,K.B., Jarick,I., Jewell,E., John,U., Jorgensen,T., Jousilahti,P., Jula,A., Kaakinen,M., Kajantie,E., Kaplan,L.M., Kathiresan,S., Kettunen,J., Kinnunen,L., Knowles,J.W., Kolcic,I., Konig,I.R., Koskinen,S., Kovacs,P., Kuusisto,J., Kraft,P., Kvaloy,K., Laitinen,J., Lantieri,O., Lanzani,C., Launer,L.J., Lecoeur,C., Lehtimaki,T., Lettre,G., Liu,J., Lokki,M.L., Lorentzon,M., Luben,R.N., Ludwig,B., Manunta,P., Marek,D., Marre,M., Martin,N.G., McArdle,W.L., McCarthy,A., McKnight,B., Meitinger,T., Melander,O., Meyre,D., Midthjell,K., Montgomery,G.W., Morken,M.A., Morris,A.P., Mulic,R., Ngwa,J.S., Nelis,M., Neville,M.J., Nyholt,D.R., O'Donnell,C.J., O'Rahilly,S., Ong,K.K., Oostra,B., Pare,G., Parker,A.N., Perola,M., Pichler,I., Pietilainen,K.H., Platou,C.G., Polasek,O., Pouta,A., Rafelt,S., Raitakari,O., Rayner,N.W., Ridderstrale,M., Rief,W., Ruokonen,A., Robertson,N.R., Rzehak,P., Salomaa,V., Sanders,A.R., Sandhu,M.S., Sanna,S., Saramies,J., Savolainen,M.J., Scherag,S., Schipf,S., Schreiber,S., Schunkert,H., Silander,K., Sinisalo,J., Siscovick,D.S., Smit,J.H., Soranzo,N., Sovio,U., Stephens,J., Surakka,I., Swift,A.J., Tammesoo,M.L., Tardif,J.C., Teder-Laving,M., Teslovich,T.M., Thompson,J.R., Thomson,B., Tonjes,A., Tuomi,T., van Meurs,J.B., van Ommen,G.J., Vatin,V., Viikari,J., Visvikis-Siest,S., Vitart,V., Vogel,C.I., Voight,B.F., Waite,L.L., Wallaschofski,H., Walters,G.B., Widen,E., Wiegand,S., Wild,S.H., Willemsen,G., Witte,D.R., Witteman,J.C., Xu,J., Zhang,Q., Zgaga,L., Ziegler,A., Zitting,P., Beilby,J.P., Farooqi,I.S., Hebebrand,J., Huikuri,H.V., James,A.L., Kahonen,M., Levinson,D.F., Macciardi,F., Nieminen,M.S., Ohlsson,C., Palmer,L.J., Ridker,P.M., Stumvoll,M., Beckmann,J.S., Boeing,H., Boerwinkle,E., Boomsma,D.I., Caulfield,M.J., Chanock,S.J., Collins,F.S., Cupples,L.A., Smith,G.D., Erdmann,J., Froguel,P., Gronberg,H., Gyllensten,U., Hall,P., Hansen,T., Harris,T.B., Hattersley,A.T., Hayes,R.B., Heinrich,J., Hu,F.B., Hveem,K., Illig,T., Jarvelin,M.R., Kaprio,J., Karpe,F., Khaw,K.T., Kiemeney,L.A., Krude,H., Laakso,M., Lawlor,D.A., Metspalu,A., Munroe,P.B., Ouwehand,W.H., Pedersen,O., Penninx,B.W., Peters,A., Pramstaller,P.P., Quertermous,T., Reinehr,T., Rissanen,A., Rudan,I., Samani,N.J., Schwarz,P.E., Shuldiner,A.R., Spector,T.D., Tuomilehto,J., Uda,M., Uitterlinden,A., Valle,T.T., Wabitsch,M., Waeber,G., Wareham,N.J., Watkins,H., Wilson,J.F., Wright,A.F., Zillikens,M.C., Chatterjee,N., McCarroll,S.A., Purcell,S., Schadt,E.E., Visscher,P.M., Assimes,T.L., Borecki,I.B., Deloukas,P., Fox,C.S., Groop,L.C., Haritunians,T., Hunter,D.J., Kaplan,R.C., Mohlke,K.L., O'Connell,J.R., Peltonen,L., Schlessinger,D., Strachan,D.P., van Duijn,C.M., Wichmann,H.E., Frayling,T.M., Thorsteinsdottir,U., Abecasis,G.R., Barroso,I., Boehnke,M., Stefansson,K., North,K.E., McCarthy,M.I., Hirschhorn,J.N., Ingelsson,E. and Loos,R.J. |
| Journal | Nat. Genet. 42 (11), 937-948 (2010) |
| Title | A large-scale candidate gene association study of age at menarche and age at natural menopause . |
| Author | He,C., Kraft,P., Chasman,D.I., Buring,J.E., Chen,C., Hankinson,S.E., Pare,G., Chanock,S., Ridker,P.M. and Hunter,D.J. |
| Journal | Hum. Genet. 128 (5), 515-527 (2010) |
| Title | Peroxisomal localization of the proopiomelanocortin-derived peptides beta-lipotropin and beta-endorphin . |
| Author | Hoftberger,R., Kunze,M., Voigtlander,T., Unterberger,U., Regelsberger,G., Bauer,J., Aboul-Enein,F., Garzuly,F., Forss-Petter,S., Bernheimer,H., Berger,J. and Budka,H. |
| Journal | Endocrinology 151 (10), 4801-4810 (2010) |
| Title | Processing of proopiomelanocortin (POMC) approached by immunoelectron microscopy pre-embedding method . |
| Author | Osamura,R.Y. |
| Journal | Pathol. Res. Pract. 187 (5), 543-545 (1991) |
| Title | A novel beta-endorphin binding protein. Complement S protein (= vitronectin) exhibits specific non-opioid binding sites for beta-endorphin upon interaction with heparin or surfaces . |
| Author | Hildebrand,A., Preissner,K.T., Muller-Berghaus,G. and Teschemacher,H. |
| Journal | J. Biol. Chem. 264 (26), 15429-15434 (1989) |
| Title | gamma-Endorphin and schizophrenia: amino acid composition of gamma-endorphin and nucleotide sequence of gamma-endorphin cDNA from pituitary glands of schizophrenic patients . |
| Author | Bovenberg,R.A., Burbach,J.P., Wiegant,V.M., Veeneman,G.H., van Boom,J.H., Baas,P.D., Jansz,H.S. and de Wied,D. |
| Journal | Brain Res. 376 (1), 29-37 (1986) |
| Title | Primary structure and morphine-like activity of human beta-endorphin . |
| Author | Dragon,N., Seidah,N.G., Lis,M., Routhier,R. and Chretien,M. |
| Journal | Can. J. Biochem. 55 (6), 666-670 (1977) |
| Title | Primary structure of human beta-lipotropin . |
| Author | Li,C.H. and Chung,D. |
| Journal | Nature 260 (5552), 622-624 (1976) |
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