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P01189

- COLI_HUMAN

UniProt

P01189 - COLI_HUMAN

Protein

Pro-opiomelanocortin

Gene

POMC

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 160 (01 Oct 2014)
      Sequence version 2 (01 Feb 1991)
      Previous versions | rss
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    Functioni

    ACTH stimulates the adrenal glands to release cortisol.
    MSH (melanocyte-stimulating hormone) increases the pigmentation of skin by increasing melanin production in melanocytes.
    Beta-endorphin and Met-enkephalin are endogenous opiates.

    GO - Molecular functioni

    1. G-protein coupled receptor binding Source: BHF-UCL
    2. hormone activity Source: UniProtKB
    3. receptor binding Source: UniProtKB
    4. type 1 melanocortin receptor binding Source: BHF-UCL
    5. type 3 melanocortin receptor binding Source: BHF-UCL
    6. type 4 melanocortin receptor binding Source: BHF-UCL

    GO - Biological processi

    1. cell-cell signaling Source: UniProtKB
    2. cellular pigmentation Source: UniProtKB
    3. cellular protein metabolic process Source: Reactome
    4. generation of precursor metabolites and energy Source: UniProtKB
    5. negative regulation of tumor necrosis factor production Source: BHF-UCL
    6. neuropeptide signaling pathway Source: UniProtKB-KW
    7. peptide hormone processing Source: Reactome
    8. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    9. regulation of appetite Source: UniProtKB
    10. regulation of blood pressure Source: UniProtKB
    11. signal transduction Source: UniProtKB

    Keywords - Molecular functioni

    Endorphin, Hormone

    Enzyme and pathway databases

    ReactomeiREACT_11036. Glucocorticoid biosynthesis.
    REACT_11059. Androgen biosynthesis.
    REACT_13812. Endogenous sterols.
    REACT_14819. Peptide ligand-binding receptors.
    REACT_15295. Opioid Signalling.
    REACT_15452. Peptide hormone biosynthesis.
    REACT_15457. G-protein activation.
    REACT_19231. G alpha (i) signalling events.
    REACT_19327. G alpha (s) signalling events.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Pro-opiomelanocortin
    Short name:
    POMC
    Alternative name(s):
    Corticotropin-lipotropin
    Cleaved into the following 11 chains:
    Alternative name(s):
    Gamma-MSH
    Alternative name(s):
    Adrenocorticotropic hormone
    Short name:
    ACTH
    Alternative name(s):
    Alpha-MSH
    Alternative name(s):
    Beta-LPH
    Alternative name(s):
    Gamma-LPH
    Alternative name(s):
    Beta-MSH
    Gene namesi
    Name:POMC
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:9201. POMC.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. extracellular region Source: Reactome
    3. extracellular space Source: UniProtKB
    4. peroxisomal matrix Source: UniProtKB
    5. secretory granule Source: UniProtKB
    6. secretory granule lumen Source: Reactome

    Keywords - Cellular componenti

    Secreted

    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.1 Publication
    Note: Disease susceptibility may be associated with variations affecting the gene represented in this entry.
    Pro-opiomelanocortinin deficiency (POMCD) [MIM:609734]: Affected individuals present early-onset obesity, adrenal insufficiency and red hair.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Obesity

    Organism-specific databases

    MIMi601665. phenotype.
    609734. phenotype.
    Orphaneti71526. Obesity due to pro-opiomelanocortin deficiency.
    PharmGKBiPA33526.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 26263 PublicationsAdd
    BLAST
    Peptidei27 – 10276NPPPRO_0000024966Add
    BLAST
    Peptidei77 – 8711Melanotropin gamma1 PublicationPRO_0000024967Add
    BLAST
    Peptidei105 – 13430Potential peptidePRO_0000024968Add
    BLAST
    Peptidei138 – 17639CorticotropinPRO_0000024969Add
    BLAST
    Peptidei138 – 15013Melanotropin alphaPRO_0000024970Add
    BLAST
    Peptidei156 – 17621Corticotropin-like intermediary peptidePRO_0000024971Add
    BLAST
    Peptidei179 – 26789Lipotropin betaPRO_0000024972Add
    BLAST
    Peptidei179 – 23456Lipotropin gammaPRO_0000024973Add
    BLAST
    Peptidei217 – 23418Melanotropin betaPRO_0000024974Add
    BLAST
    Peptidei237 – 26731Beta-endorphinPRO_0000024975Add
    BLAST
    Peptidei237 – 2415Met-enkephalinPRO_0000024976

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi28 ↔ 50By similarity
    Glycosylationi71 – 711O-linked (HexNAc...)1 Publication
    Modified residuei87 – 871Phenylalanine amideBy similarity
    Glycosylationi91 – 911N-linked (GlcNAc...)
    Modified residuei134 – 1341Glutamic acid 1-amide1 Publication
    Modified residuei138 – 1381N-acetylserineBy similarity
    Modified residuei150 – 1501Valine amideBy similarity
    Modified residuei168 – 1681Phosphoserine1 Publication

    Post-translational modificationi

    Specific enzymatic cleavages at paired basic residues yield the different active peptides.1 Publication
    O-glycosylated; reducing sugar is probably N-acetylgalactosamine.

    Keywords - PTMi

    Acetylation, Amidation, Cleavage on pair of basic residues, Disulfide bond, Glycoprotein, Phosphoprotein

    Proteomic databases

    PaxDbiP01189.
    PRIDEiP01189.

    PTM databases

    PhosphoSiteiP01189.

    Miscellaneous databases

    PMAP-CutDBP01189.

    Expressioni

    Tissue specificityi

    ACTH and MSH are produced by the pituitary gland.

    Gene expression databases

    ArrayExpressiP01189.
    BgeeiP01189.
    CleanExiHS_POMC.
    GenevestigatoriP01189.

    Organism-specific databases

    HPAiCAB002765.

    Interactioni

    Protein-protein interaction databases

    BioGridi111439. 7 interactions.
    STRINGi9606.ENSP00000264708.

    Structurei

    3D structure databases

    ProteinModelPortaliP01189.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the POMC family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG45039.
    HOVERGENiHBG004341.
    InParanoidiP01189.
    KOiK05228.
    OMAiRACKPDL.
    OrthoDBiEOG74TX0W.
    PhylomeDBiP01189.
    TreeFamiTF333215.

    Family and domain databases

    InterProiIPR001941. Mcortin_ACTH.
    IPR013531. Mcrtin_ACTH_cent.
    IPR013593. Melanocortin_N.
    IPR013532. Opioid_neuropept.
    [Graphical view]
    PfamiPF00976. ACTH_domain. 1 hit.
    PF08384. NPP. 1 hit.
    PF08035. Op_neuropeptide. 1 hit.
    [Graphical view]
    PRINTSiPR00383. MELANOCORTIN.

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    P01189-1 [UniParc]FASTAAdd to Basket

    « Hide

    MPRSCCSRSG ALLLALLLQA SMEVRGWCLE SSQCQDLTTE SNLLECIRAC    50
    KPDLSAETPM FPGNGDEQPL TENPRKYVMG HFRWDRFGRR NSSSSGSSGA 100
    GQKREDVSAG EDCGPLPEGG PEPRSDGAKP GPREGKRSYS MEHFRWGKPV 150
    GKKRRPVKVY PNGAEDESAE AFPLEFKREL TGQRLREGDG PDGPADDGAG 200
    AQADLEHSLL VAAEKKDEGP YRMEHFRWGS PPKDKRYGGF MTSEKSQTPL 250
    VTLFKNAIIK NAYKKGE 267
    Length:267
    Mass (Da):29,424
    Last modified:February 1, 1991 - v2
    Checksum:iB927323474A67536
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti48 – 481R → G(PubMed:6254047)Curated
    Sequence conflicti115 – 1151P → T(PubMed:6299668)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti7 – 71S → T.1 Publication
    VAR_010699
    Natural varianti9 – 91S → L.1 Publication
    Corresponds to variant rs139750421 [ dbSNP | Ensembl ].
    VAR_010700
    Natural varianti62 – 621P → L.
    Corresponds to variant rs28932471 [ dbSNP | Ensembl ].
    VAR_029762
    Natural varianti97 – 993Missing.1 Publication
    VAR_010714
    Natural varianti106 – 1061D → N.1 Publication
    VAR_010715
    Natural varianti132 – 1321P → A.
    Corresponds to variant rs8192606 [ dbSNP | Ensembl ].
    VAR_029314
    Natural varianti214 – 2141E → G.1 Publication
    Corresponds to variant rs80326661 [ dbSNP | Ensembl ].
    VAR_010716
    Natural varianti236 – 2361R → G May confer susceptibility to obesity; reduces the ability to activate melanocortin receptor 4. 2 Publications
    Corresponds to variant rs28932472 [ dbSNP | Ensembl ].
    VAR_010701
    Natural varianti236 – 2361R → Q.1 Publication
    VAR_012201

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M38297 mRNA. Translation: AAA60140.1.
    J00292, J00291 Genomic DNA. Translation: AAB59621.1.
    V01510 Genomic DNA. Translation: CAA24754.1.
    AC012457 Genomic DNA. Translation: AAY24354.1.
    CH471053 Genomic DNA. Translation: EAX00729.1.
    CH471053 Genomic DNA. Translation: EAX00730.1.
    BC065832 mRNA. Translation: AAH65832.1.
    M25896 mRNA. Translation: AAA35799.1.
    CCDSiCCDS1717.1.
    PIRiA17229. CTHUP.
    RefSeqiNP_000930.1. NM_000939.2.
    NP_001030333.1. NM_001035256.1.
    UniGeneiHs.1897.

    Genome annotation databases

    EnsembliENST00000264708; ENSP00000264708; ENSG00000115138.
    ENST00000380794; ENSP00000370171; ENSG00000115138.
    ENST00000395826; ENSP00000379170; ENSG00000115138.
    ENST00000405623; ENSP00000384092; ENSG00000115138.
    GeneIDi5443.
    KEGGihsa:5443.
    UCSCiuc002rfy.1. human.

    Polymorphism databases

    DMDMi116880.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Wikipedia

    Melanocyte-stimulating hormone entry

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M38297 mRNA. Translation: AAA60140.1 .
    J00292 , J00291 Genomic DNA. Translation: AAB59621.1 .
    V01510 Genomic DNA. Translation: CAA24754.1 .
    AC012457 Genomic DNA. Translation: AAY24354.1 .
    CH471053 Genomic DNA. Translation: EAX00729.1 .
    CH471053 Genomic DNA. Translation: EAX00730.1 .
    BC065832 mRNA. Translation: AAH65832.1 .
    M25896 mRNA. Translation: AAA35799.1 .
    CCDSi CCDS1717.1.
    PIRi A17229. CTHUP.
    RefSeqi NP_000930.1. NM_000939.2.
    NP_001030333.1. NM_001035256.1.
    UniGenei Hs.1897.

    3D structure databases

    ProteinModelPortali P01189.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111439. 7 interactions.
    STRINGi 9606.ENSP00000264708.

    Chemistry

    DrugBanki DB00741. Hydrocortisone.
    DB00836. Loperamide.
    DB01108. Trilostane.

    PTM databases

    PhosphoSitei P01189.

    Polymorphism databases

    DMDMi 116880.

    Proteomic databases

    PaxDbi P01189.
    PRIDEi P01189.

    Protocols and materials databases

    DNASUi 5443.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000264708 ; ENSP00000264708 ; ENSG00000115138 .
    ENST00000380794 ; ENSP00000370171 ; ENSG00000115138 .
    ENST00000395826 ; ENSP00000379170 ; ENSG00000115138 .
    ENST00000405623 ; ENSP00000384092 ; ENSG00000115138 .
    GeneIDi 5443.
    KEGGi hsa:5443.
    UCSCi uc002rfy.1. human.

    Organism-specific databases

    CTDi 5443.
    GeneCardsi GC02M025383.
    GeneReviewsi POMC.
    HGNCi HGNC:9201. POMC.
    HPAi CAB002765.
    MIMi 176830. gene.
    601665. phenotype.
    609734. phenotype.
    neXtProti NX_P01189.
    Orphaneti 71526. Obesity due to pro-opiomelanocortin deficiency.
    PharmGKBi PA33526.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG45039.
    HOVERGENi HBG004341.
    InParanoidi P01189.
    KOi K05228.
    OMAi RACKPDL.
    OrthoDBi EOG74TX0W.
    PhylomeDBi P01189.
    TreeFami TF333215.

    Enzyme and pathway databases

    Reactomei REACT_11036. Glucocorticoid biosynthesis.
    REACT_11059. Androgen biosynthesis.
    REACT_13812. Endogenous sterols.
    REACT_14819. Peptide ligand-binding receptors.
    REACT_15295. Opioid Signalling.
    REACT_15452. Peptide hormone biosynthesis.
    REACT_15457. G-protein activation.
    REACT_19231. G alpha (i) signalling events.
    REACT_19327. G alpha (s) signalling events.

    Miscellaneous databases

    ChiTaRSi POMC. human.
    GeneWikii Proopiomelanocortin.
    GenomeRNAii 5443.
    NextBioi 21063.
    PMAP-CutDB P01189.
    PROi P01189.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P01189.
    Bgeei P01189.
    CleanExi HS_POMC.
    Genevestigatori P01189.

    Family and domain databases

    InterProi IPR001941. Mcortin_ACTH.
    IPR013531. Mcrtin_ACTH_cent.
    IPR013593. Melanocortin_N.
    IPR013532. Opioid_neuropept.
    [Graphical view ]
    Pfami PF00976. ACTH_domain. 1 hit.
    PF08384. NPP. 1 hit.
    PF08035. Op_neuropeptide. 1 hit.
    [Graphical view ]
    PRINTSi PR00383. MELANOCORTIN.
    ProtoNeti Search...

    Publicationsi

    1. "Isolation and structural organization of the human corticotropin-beta-lipotropin precursor gene."
      Takahashi H., Teranishi Y., Nakanishi S., Numa S.
      FEBS Lett. 135:97-102(1981) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    2. "The human pro-opiomelanocortin gene: organization, sequence, and interspersion with repetitive DNA."
      Whitfeld P.L., Seeburg P.H., Shine J.
      DNA 1:133-143(1982) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "Complete nucleotide sequence of the human corticotropin-beta-lipotropin precursor gene."
      Takahashi H., Hakamata Y., Watanabe Y., Kikuno R., Miyata T., Numa S.
      Nucleic Acids Res. 11:6847-6858(1983) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    4. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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: Pituitary.
    7. "Synthesis, cloning and primary structure of DNA complementary to mRNA for human pituitary pro-opiomelanocortin."
      Golovin S.Y., Karginov V.A., Bondar A.A., Beklemishev A.B., Chekhranova M.K., Mertvetsov N.P., Pankov Y.A.
      Bioorg. Khim. 13:562-564(1987) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 6-267.
    8. "Structural organization of human genomic DNA encoding the pro-opiomelanocortin peptide."
      Chang A.C.Y., Cochet M., Cohen S.N.
      Proc. Natl. Acad. Sci. U.S.A. 77:4890-4894(1980) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 46-267.
    9. "Complete amino acid sequence of a human pituitary glycopeptide: an important maturation product of pro-opiomelanocortin."
      Seidah N.G., Chretien M.
      Proc. Natl. Acad. Sci. U.S.A. 78:4236-4240(1981) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 27-102.
    10. "Primary structure of the major human pituitary pro-opiomelanocortin NH2-terminal glycopeptide. Evidence for an aldosterone-stimulating activity."
      Seidah N.G., Rochemont J., Hamelin J., Lis M., Chretien M.
      J. Biol. Chem. 256:7977-7984(1981) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 27-102.
    11. "The missing fragment of the pro-sequence of human pro-opiomelanocortin: sequence and evidence for C-terminal amidation."
      Seidah N.G., Rochemont J., Hamelin J., Benjannet S., Chretien M.
      Biochem. Biophys. Res. Commun. 102:710-716(1981) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 105-134, AMIDATION AT GLU-134.
    12. "Confirmation of the 1-20 amino acid sequence of human adrenocorticotrophin."
      Bennett H.P.J., Lowry P.J., McMartin C.
      Biochem. J. 133:11-13(1973) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 138-176.
    13. "On the structure of human corticotropin (adrenocorticotropic hormone)."
      Lee T.H., Lerner A.B., Buettner-Janusch V.
      J. Biol. Chem. 236:2970-2974(1961) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 138-176.
    14. "Signal peptide prediction based on analysis of experimentally verified cleavage sites."
      Zhang Z., Henzel W.J.
      Protein Sci. 13:2819-2824(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 27-41.
    15. "Revised amino-acid sequences for porcine and human adrenocorticotrophic hormone."
      Riniker B., Sieber P., Rittel W., Zuber H.
      Nature New Biol. 235:114-115(1972) [PubMed] [Europe PMC] [Abstract]
      Cited for: SEQUENCE REVISION (CORTICOTROPIN).
    16. "Synthesis of the human adrenal cortex hormone (alpha-h-ACTH) with a revised amino-acid sequence."
      Sieber P., Rittel W., Riniker B.
      Helv. Chim. Acta 55:1243-1266(1972) [PubMed] [Europe PMC] [Abstract]
      Cited for: SYNTHESIS OF CORTICOTROPIN.
    17. "Adrenocorticotropins. 44. Total synthesis of the human hormone by the solid-phase method."
      Yamashiro D., Li C.H.
      J. Am. Chem. Soc. 95:1310-1315(1973) [PubMed] [Europe PMC] [Abstract]
      Cited for: SYNTHESIS OF CORTICOTROPIN.
    18. "Primary structure of human beta-lipotropin."
      Li C.H., Chung D.
      Nature 260:622-624(1976) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 179-267.
    19. "Structure of a melanocyte-stimulating hormone from the human pituitary gland."
      Harris J.I.
      Nature 184:167-169(1959)
      Cited for: PROTEIN SEQUENCE OF 217-234.
    20. "Primary structure and morphine-like activity of human beta-endorphin."
      Dragon N., Seidah N.G., Lis M., Routhier R., Chretien M.
      Can. J. Biochem. 55:666-670(1977) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 237-267.
    21. "Gamma-endorphin and schizophrenia: amino acid composition of gamma-endorphin and nucleotide sequence of gamma-endorphin cDNA from pituitary glands of schizophrenic patients."
      Bovenberg R.A.L., Burbach J.P.H., Wiegant V.M., Veeneman G.H., van Boom J.H., Baas P.D., Jansz H.S., de Wied D.
      Brain Res. 376:29-37(1986) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 235-256.
    22. "Alpha-amidated peptides derived from pro-opiomelanocortin in normal human pituitary."
      Fenger M., Johnsen A.H.
      Biochem. J. 250:781-788(1988) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEOLYTIC PROCESSING.
    23. "Reduced expression of a naturally deleted form of human proopiomelanocortin complementary deoxyribonucleic acid after transfection into Chinese hamster ovary cells."
      Morris J.C., Savva D., Lowry P.J.
      Endocrinology 136:195-201(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE OF 75-104, VARIANT 97-SER--GLY-99 DEL.
      Tissue: Pituitary.
    24. "Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans."
      Krude H., Biebermann H., Luck W., Horn R., Brabant G., Grueters A.
      Nat. Genet. 19:155-157(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN POMCD.
    25. "Association between common polymorphisms of the proopiomelanocortin gene and body fat distribution: a family study."
      Baker M., Gaukrodger N., Mayosi B.M., Imrie H., Farrall M., Watkins H., Connell J.M.C., Avery P.J., Keavney B.
      Diabetes 54:2492-2496(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN ABDOMINAL BODY FAT DISTRIBUTION.
    26. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-168, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Pituitary.
    27. "Systematic mutation screening of the pro-opiomelanocortin gene: identification of several genetic variants including three different insertions, one nonsense and two missense point mutations in probands of different weight extremes."
      Hinney A., Becker I., Heibult O., Nottebom K., Schmidt A., Ziegler A., Mayer H., Siegfried W., Blum W.F., Remschmidt H., Hebebrand J.
      J. Clin. Endocrinol. Metab. 83:3737-3741(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ASN-106; GLY-214 AND 97-SER--GLY-99 DEL.
    28. "Mutational analysis of the proopiomelanocortin gene in Caucasians with early onset obesity."
      Echwald S.M., Sorensen T.I., Andersen T., Tybjaerg-Hansen A., Clausen J.O., Pedersen O.
      Int. J. Obes. Relat. Metab. Disord. 23:293-298(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT GLN-236.
    29. "Molecular screening of the proopiomelanocortin (POMC) gene in Italian obese children: report of three new mutations."
      del Giudice E.M., Cirillo G., Santoro N., D'Urso L., Carbone M.T., Toro R.D., Perrone L.
      Int. J. Obes. Relat. Metab. Disord. 25:61-67(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS THR-7; LEU-9; GLY-236 AND 97-SER--GLY-99 DEL.
    30. "A missense mutation disrupting a dibasic prohormone processing site in pro-opiomelanocortin (POMC) increases susceptibility to early-onset obesity through a novel molecular mechanism."
      Challis B.G., Pritchard L.E., Creemers J.W.M., Delplanque J., Keogh J.M., Luan J., Wareham N.J., Yeo G.S.H., Bhattacharyya S., Froguel P., White A., Farooqi I.S., O'Rahilly S.
      Hum. Mol. Genet. 11:1997-2004(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT GLY-236, CHARACTERIZATION OF VARIANT GLY-236, POSSIBLE INVOLVEMENT IN OBESITY.

    Entry informationi

    Entry nameiCOLI_HUMAN
    AccessioniPrimary (citable) accession number: P01189
    Secondary accession number(s): P78442
    , Q53T23, Q9UD39, Q9UD40
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 21, 1986
    Last sequence update: February 1, 1991
    Last modified: October 1, 2014
    This is version 160 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

    Complete proteome, Direct protein sequencing, Reference proteome

    Documents

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

    External Data

    Dasty 3