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onsdag 7 november 2018

MUC9 primäärisekvenssistä ja referensseistä

 MUC9 tietämystä  referaattien  ja peptidisekvenssin peruteella. Tutkimukset ovat aiemmin kohdistuneet reproduktioalueeseen ja  viimeisimmät  suoliston alueen tutkimuksiin.
2012, Referaatti 1. MUC9- geenin ilmenemän  havaittiin alentuneen aktiivissa  ja remissiossa olevassa haavaisessa paksunsuolentulehduksessa (UC).Biopsiatutkimus.

2010, Referaatti 2.  Geneettisiin tutkimuksiin sisällytetty myös tämä geeni katsottaessa pitkäikäisyyteen vaikuttavaa   geenitaustaa.
2010, Referaatti 3 .Oviduktaalinen glykoproteiini  (OVGP1, MUC9): Erilaistumiseen perustuva musiini esiintyy ovariaalisyöpää sairastavien naisten seerumissa.

2008, Refereaatti 4. Musiinigeenien ilmenemä ihmisen kurkunpään epiteelillä: vaikutusta laryngofaryngeaaliseen refluksiin. Refluxlryngiittiin liittyy musiinigeenien alassäätymä.
2006, Referaatti 5. OGP:n sitoutuminen gameetteihin  välittyy MYH:n kautta  OGP:n ei-glykosyloituneeseen N-terminaaliin, jaksoon  11-137.  On tunnistettu ja luonnehdittu  oviduktaalia glykoproteiinia gameeteissa sitova partneri:  epitooppien samankaltaisuutta  ei-lihasmyosiiniin IIa (MYH9)
2002, Referaatti 6. Oviduktiinin korkein  ilmenemä asettuu ovulaatioon, mikä on yhtä pitävää sen osuuteen fertilisaatiossa ja embryon alkeiskehityksess.

2002, Referaatti 7. Ihmisen oviduktaaligeenin promoottorin kloonaus  ja luonnehdinta.
1997, Referaatti 8. Ihmisen oviduktaaligeenin (MUC9) alleelipolymorfia ja kromosomaalisijainti.
1994, Referaatti 9. Ihmisen estrogeenista riippuvan  oviduktaalisen glykoproteiinin komplementaarisen DNA.n kloonaus ja molekulaarinen luonnehdinta.
1988, Referaatti 10. Oviduktaalien  proteiinien in vitro synteesistä ja erittymisestä.

oviduct-specific glycoprotein precursor [Homo sapiens]

NCBI Reference Sequence: NP_002548.3

LOCUS       NP_002548                678 aa            linear   PRI 15-SEP-2018
DEFINITION  oviduct-specific glycoprotein precursor [Homo sapiens].
ACCESSION   NP_002548
VERSION     NP_002548.3
DBSOURCE    REFSEQ: accession NM_002557.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 678)
  AUTHORS   Yamamoto-Furusho,J.K., Mendivil,E.J. and Fonseca-Camarillo,G.
  TITLE     Reduced expression of mucin 9 (MUC9) in patients with ulcerative
            colitis
  JOURNAL   Inflamm. Bowel Dis. 18 (3), E601 (2012)
   PUBMED   22028245
  REMARK    GeneRIF: Decreased gene expression of MUC9 was found from colonic
            biopsies in patients with active and remission ulcerative colitis.
            Erratum:[Inflamm Bowel Dis. 2015 Nov;21(11):2735. Mendivil-Rangel,
            Edgar J [corrected to Mendivil, Edgar J]]
REFERENCE   2  (residues 1 to 678)
  AUTHORS   Flachsbart F, Franke A, Kleindorp R, Caliebe A, Blanche H,
            Schreiber S and Nebel A.
  TITLE     Investigation of genetic susceptibility factors for human longevity
            - a targeted nonsynonymous SNP study
  JOURNAL   Mutat. Res. 694 (1-2), 13-19 (2010)
   PUBMED   20800603
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (residues 1 to 678)
  AUTHORS   Maines-Bandiera S, Woo MM, Borugian M, Molday LL, Hii T, Gilks B,
            Leung PC, Molday RS and Auersperg N.
  TITLE     Oviductal glycoprotein (OVGP1, MUC9): a differentiation-based mucin
            present in serum of women with ovarian cancer
  JOURNAL   Int. J. Gynecol. Cancer 20 (1), 16-22 (2010)
   PUBMED   20130498
  REMARK    GeneRIF: OVGP1 seems to detect a different spectrum of ovarian
            epithelial cancers than other markers and thus should be a useful
            adjunct for more accurate detection, particularly of early serous
            ovarian cancers and mucinous carcinomas.
REFERENCE   4  (residues 1 to 678)
  AUTHORS   Samuels TL, Handler E, Syring ML, Pajewski NM, Blumin JH, Kerschner
            JE and Johnston N.
  TITLE     Mucin gene expression in human laryngeal epithelia: effect of
            laryngopharyngeal reflux
  JOURNAL   Ann. Otol. Rhinol. Laryngol. 117 (9), 688-695 (2008)
   PUBMED   18834073
  REMARK    GeneRIF: Reflux laryngitis is associated with down-regulation of
            mucin gene expression.
REFERENCE   5  (residues 1 to 678)
  AUTHORS   Kadam KM, D'Souza SJ, Bandivdekar AH and Natraj U.
  TITLE     Identification and characterization of oviductal
            glycoprotein-binding protein partner on gametes: epitopic
            similarity to non-muscle myosin IIA, MYH 9
  JOURNAL   Mol. Hum. Reprod. 12 (4), 275-282 (2006)
   PUBMED   16567366
  REMARK    GeneRIF: Results suggests the binding of OGP to human sperm
            mediates through MYH9.OGP binds to both gametes through its interaction with MYH9 through the 
non-glycosylated N-terminal conserved region of OGP, spanning the 
residues 11-137.
REFERENCE   6  (residues 1 to 678)
  AUTHORS   Lok IH, Briton-Jones CM, Yuen PM and Haines CJ.
  TITLE     Variable expression of oviductin mRNA at different stages of human
            reproductive cycle
  JOURNAL   J. Assist. Reprod. Genet. 19 (12), 569-576 (2002)
   PUBMED   12503889
  REMARK    GeneRIF: The production and function of oviductin at different
            stages of human reproductive cycle is not well known. Its highest
            expression at the time of ovulation is consistent with a supportive
            role in fertilization and early embryo development.
REFERENCE   7  (residues 1 to 678)
  AUTHORS   Agarwal A, Yeung WS and Lee KF.
  TITLE     Cloning and characterization of the human oviduct-specific
            glycoprotein (HuOGP) gene promoter
  JOURNAL   Mol. Hum. Reprod. 8 (2), 167-175 (2002)
   PUBMED   11818519
  REMARK    GeneRIF: cloning and characterization of the promoter and gene
            expression regulation in the oviduct (human oviduct-specific
            glycoprotein, HuOPG)
REFERENCE   8  (residues 1 to 678)
  AUTHORS   Lapensee L, Paquette Y and Bleau G.
  TITLE     Allelic polymorphism and chromosomal localization of the human
            oviductin gene (MUC9)
  JOURNAL   Fertil. Steril. 68 (4), 702-708 (1997)
   PUBMED   9341614
REFERENCE   9  (residues 1 to 678)
  AUTHORS   Arias EB, Verhage HG and Jaffe RC.
  TITLE     Complementary deoxyribonucleic acid cloning and molecular
            characterization of an estrogen-dependent human oviductal
            glycoprotein
  JOURNAL   Biol. Reprod. 51 (4), 685-694 (1994)
   PUBMED   7819450
REFERENCE   10 (residues 1 to 678)
  AUTHORS   Verhage HG, Fazleabas AT and Donnelly K.
  TITLE     The in vitro synthesis and release of proteins
 by the human oviduct
  JOURNAL   Endocrinology 122 (4), 1639-1645 (1988)
   PUBMED   3278893
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY189737.1, U09550.1 and
            AA909093.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Feb 1, 2005 this sequence version replaced NP_002548.2.
            
            Summary: This gene encodes a large, carbohydrate-rich, epithelial
            glycoprotein with numerous O-glycosylation sites located within
            threonine, serine, and proline-rich tandem repeats. The gene is
            similar to members of the mucin and the glycosyl hydrolase 18 gene
            families. Regulation of expression may be estrogen-dependent. Gene
            expression and protein secretion occur during late follicular
            development through early cleavage-stage embryonic development. The
            protein is secreted from non-ciliated oviductal epithelial cells
            and associates with ovulated oocytes, blastomeres, and spermatozoan
            acrosomal regions. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: U09550.1, AY189737.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..678
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.2"
     Protein         1..678
                     /product="oviduct-specific glycoprotein precursor"
                     /note="mucin 9; estrogen-dependent oviduct protein;
                     oviductal glycoprotein 1, 120kDa; oviductin;
                     oviduct-specific glycoprotein; oviduct glycoprotein"
                     /calculated_mol_wt=73040
     sig_peptide     1..21
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
                     /calculated_mol_wt=2400
     Region          24..382
                     /region_name="GH18_chitolectin_chitotriosidase"
                     /note="This conserved domain family includes a large
                     number of catalytically inactive chitinase-like lectins
                     (chitolectins) including YKL-39, YKL-40 (HCGP39), YM1,
                     oviductin, and AMCase (acidic mammalian chitinase), as
                     well as catalytically active...; cd02872"
                     /db_xref="CDD:119351"
     Site            order(27y,31w,100w..101n,139f,141L..142y,187g..188v,211 L,213y..214d,
                     219w,263y,265r,293q,355w)
                     /site_type="active"
                     /db_xref="CDD:119351"
     Region          <368 ..557="" cdd="" cddsrv.cgi="" db_xref="CDD:<a href=" https:="" note="<b>Predicted periplasmic protein [Function unknown</b>]" region_name="<b>COG3889</b>" tructure="" uid="226406" www.ncbi.nlm.nih.gov="">226406
<368 ..557="" cdd="" cddsrv.cgi="" db_xref="CDD:<a href=" https:="" note="<b>Predicted periplasmic protein [Function unknown</b>]" region_name="<b>COG3889</b>" tructure="" uid="226406" www.ncbi.nlm.nih.gov=""> 
" CDS 1..678 /gene="OVGP1" /gene_synonym="CHIT5; EGP; MUC9; OGP" /coded_by="NM_002557.3:57..2093" /db_xref="CCDS:CCDS834.1" /db_xref="GeneID:5016" /db_xref="HGNC:HGNC:8524" /db_xref="MIM:603578

 ORIGIN
    1 mwklllwvgl vlvlkhhdga ahklvcyftn wahsrpgpas ilphdldpfl cthlifafas 
  61 mnnnqivakd lqdekilype fnklkernre lktllsiggw nfgtsrfttm lstfanrekf 
121 iasvisllrt hdfdgldlff lypglrgspm hdrwtflfli eellfafrke alltmrprll 
181 lsaavsgvph ivqtsydvrf lgrlldfinv lsydlhgswe rftghnsplf slpedpkssa 
241 yamnywrklg apseklimgi ptygrtfrll kasknglqar aigpaspgky tkqegflayf 
301 eicsfvwgak khwidyqyvp yankgkewvg ydnaisfsyk awfirrehfg gamvwtldmd
361 dvrgtfcgtg pfplvyvlnd ilvraefsst slpqfwlssa vnssstdper lavttawttd
421 skilppggea gvteihgkce nmtitprgtt vtptketvsl gkhtvalgek teitgamtmt 
481 svghqsmtpg ekaltpvghq svttgqktlt svgyqsvtpg ektltpvghq svtpvshqsv 
541 spggttmtpv hfqtetlrqn tvaprrkava rekvtvpsrn isvtpegqtm plrgenltse
601 vgthprmgnl glqmeaenrm mlssspviql peqtplafdn rfvpiygnhs svnsvtpqts
661 plslkkeipe nsavdeea //

(Rakenteessa on muutama  LxxLL- tyyppinen säätelykohta kitolektiiniosassa.
Tmmennettuna on jakso, jonka " funktio on tuntematon".   

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