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tisdag 6 november 2018

MUC6 (11p15.5), MUC-6 koodaa sekretorista musiinia 6. Ainutlaatuinen rakenne.

MUC6 (11p15.5)

(Suomennosta) Tämä geeni tunnetaan kahdella nimellä: MUC6 tai MUC-6. Geeni koodaa musiinia, joka erittyy ja muoodstaa läpäisemätöntä puolustusestettä, joka suojaa suolen ontelon pintaa. Geeniä ilmenee mahalaukussa ja pohjukaissuolessa. Proteiinin nimen on musiini-6.
  • Also known as MUC-6
  • Summary This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins produced by many epithelial tissues. The protein encoded by this gene is secreted and forms an insoluble mucous barrier that protects the gut lumen. [provided by RefSeq, Dec 2016] Expression Biased expression in stomach (RPKM 174.6) and duodenum (RPKM 41.3) See more Orthologs mouse all Preferred Names mucin-6. Names gastric mucin-6
Artikkeleita

Gastric gland mucin-specific O-glycan expression decreases with tumor progression from precursor lesions to pancreatic cancer. Ohya A, et al. Cancer Sci, 2017 Sep. PMID 28685935, Free PMC Article
  1. MUC6 mucin expression inhibits tumor cell invasion. Leir SH, et al. Exp Cell Res, 2011 Oct 15. PMID 21851820
  2. MUC expression in hyperplastic and serrated colonic polyps: lack of specificity of MUC6. Gibson JA, et al. Am J Surg Pathol, 2011 May. PMID 21490447
  3. Tn glycosylation of the MUC6 protein modulates its immunogenicity and promotes the induction of Th17-biased T cell responses. Freire T, et al. J Biol Chem, 2011 Mar 11. PMID 21193402, Free PMC Article
Gene rif
(Finnish)  otan tässä esiin  musiini-6 rakenteen prekursorimolekyylin 
 
    See identical proteins and their annotated locations for NP_005952.2
     
    (Finnish)  Konservoituja domeeneja ovat 
     
    BDLF3 (https://www.mybiosource.com/prods/Recombinant-Protein/Probable-membrane-antigen-GP85-BDLF3/BDLF3/datasheet.php?products_id=7062925)
  1. Conserved Domains (8) summary
    PHA03255
    Location:2188 → 2343
    PHA03255; BDLF3; Provisional
    smart00041
    Location:2351 → 2434
    CT; C-terminal cystine knot-like domain (CTCK)
    smart00215
    Location:359 → 403
    VWC_out; von Willebrand factor (vWF) type C domain
    smart00216
    Location:386 → 549
    VWD; von Willebrand factor (vWF) type D domain
    pfam00094
    Location:868 → 1017
    VWD; von Willebrand factor type D domain
    pfam01826
    Location:302 → 357
    TIL; Trypsin Inhibitor like cysteine rich domain
    pfam08742
    Location:1057 → 1127
    C8; C8 domain
    cl17735
    Location:829 → 886
    VWC; von Willebrand factor type C domain



(Finnish)  Historiallisia  vaiheita.
  • mucin-6 precursor [Homo sapiens]
  • NCBI Reference Sequence: NP_005952.2
  • LOCUS       NP_005952               2439 aa            linear   PRI 19-AUG-2018
    DEFINITION  mucin-6 precursor [Homo sapiens].
    
(Finnish)  2018  Referenssi 1. Helikobacter pylori- virulenssitekijän Cag A ja ammoniumjonin vaikutus musiineihin AGS-soluissa:  vaikutusta on myös MUC6 ilmenemään.
  • REFERENCE   1  (residues 1 to 2439)
  AUTHORS   Zhang X, Shi D, Liu YP, Chen WJ and Wu D.
  TITLE     Effects of the Helicobacter pylori Virulence Factor CagA and
            Ammonium Ion on Mucins in AGS Cells
  JOURNAL   Yonsei Med. J. 59 (5), 633-642 (2018)
   PUBMED   29869461
  REMARK    GeneRIF: The expression of MUC5AC, MUC2, and MUC6 mRNA in
            CagA-transfected AGS cells at an NH concentration of 15 mM was
            significantly higher than that at 0 mM, and decreased at higher
            concentrations. H. pylori may affect the expression of MUC5AC,
            MUC2, MUC5B, and MUC6 in AGS cells via CagA and/or NH, but not
            E-cadherin.


(Finnish)  2018 referenssi 2. immunohitokemialliset musiiniantigeenikirjot
sylkirauhasen mukoepidermaalisessa karsinoomassa.
Varhaisessa postoperatiivisessa vaiheessa MUC4- ja MUC6 – 
negatiiviset ilmenemät ovat huonon ennusteen merkkejä. 

  • REFERENCE   2  (residues 1 to 2439)
  AUTHORS   Honjo K, Hiraki T, Higashi M, Noguchi H, Nomoto M, Yoshimura T,
            Batra SK, Yonezawa S, Semba I, Nakamura N, Tanimoto A and Yamada S.
  TITLE     Immunohistochemical expression profiles of mucin antigens in
            salivary gland mucoepidermoid carcinoma: MUC4- and MUC6-negative
            expression predicts a shortened survival in the early postoperative
            phase
  JOURNAL   Histol. Histopathol. 33 (2), 201-213 (2018)
   PUBMED   28649694
  REMARK    GeneRIF: The detection of MUC4 and/or MUC6 might be a powerful
            parameter in the clinical management of mucoepidermoid carcinoma in
            the early postsurgical phase

(Finnish)  2017 referenssi 3. 
Maharauhasen musiinispesifinen O-glykaani-ilmenemä alenee
tuumorin progredioituessa  prekursorileesioista haimasyöväksi.
MUC6:een korreloivan alfaGlcNAc ilmenemän aleneminen tapahtuu 
varhain ja merkitsee  haimasyövän progredioitumisen alkamista.

  • REFERENCE   3  (residues 1 to 2439)
  AUTHORS   Ohya A, Yamanoi K, Shimojo H, Fujii C and Nakayama J.
  TITLE     Gastric gland mucin-specific O-glycan expression decreases with
            tumor progression from precursor lesions to pancreatic cancer
  JOURNAL   Cancer Sci. 108 (9), 1897-1902 (2017)
   PUBMED   28685935
  REMARK    GeneRIF: decreased expression of alphaGlcNAc relative to MUC6
            occurs early and marks the initiation of tumor progression to
            pancreatic cancer. 
 
(Finnish)  2016 Referenssi 4. 
Musiinigeenien MUC1, MUC2, MUC5AX ja MUC6  ilmenemisprofiilit ja
 kliininen merkitys kolorektaalissa syövässä.  MUC5AC geenin  ja
 erityisesti MUC6 geenin poikkeava ilmentymä assosioitui 
suotuisiin tuloksiin kolorektaalisyövässä  intermediäärisissä 
vaiheissa II ja III. 

  • REFERENCE   4  (residues 1 to 2439)
  AUTHORS   Betge J, Schneider NI, Harbaum L, Pollheimer MJ, Lindtner RA,
            Kornprat P, Ebert MP and Langner C.
  TITLE     MUC1, MUC2, MUC5AC, and MUC6 in colorectal cancer: expression
            profiles and clinical significance
  JOURNAL   Virchows Arch. 469 (3), 255-265 (2016)
   PUBMED   27298226
  REMARK    GeneRIF: outcome, while the gain of aberrant expression of MUC5AC
            and particularly of MUC6 was associated with favorable outcome in
            colorectal cancer, notably in intermediate stages II and III’

(Finnish) 2015 referenssi 5. Musiinien MUC1, MUC2, MUC5AC ja MUC6
 ilmenemisprofiili ovariaalisessa musinoosissa tuumorissa: 
Ilmenemän muutokset   benigneistä rajatilaan ja  maligneihin tuumoreihin. 
  • REFERENCE   5  (residues 1 to 2439)
  AUTHORS   Wang J and El-Bahrawy M.
  TITLE     Expression profile of mucins (MUC1, MUC2, MUC5AC, and MUC6) in
            ovarian mucinous tumours: changes in expression from benign to
            malignant tumours
  JOURNAL   Histopathology 66 (4), 529-535 (2015)
   PUBMED   25298197
  REMARK    GeneRIF: In ovarian mucinous tumors, MUC6 expression changes with
            the progression of benign to borderline and malignant tumours


(Finnish)  2004 referenssi 6. Ihmisen MUC6 ja MUC2 geenien täydellinen
genominen järjestäytyminen. Täydellinen  exoni/introni-organisoituminen. 

  • REFERENCE   6  (residues 1 to 2439)
  AUTHORS   Rousseau K, Byrne C, Kim YS, Gum JR, Swallow DM and Toribara NW.
  TITLE     The complete genomic organization of the human MUC6 and MUC2 mucin
            genes.
JOURNAL   Genomics 83 (5), 936-939 (2004)
   PUBMED   15081123
  REMARK    GeneRIF: complete genomic (exon/intron) organization 
 
 (Finnish) 1998 referenssi 7. MUC6 musiinigeeniä ilmenee 
 epiteelikudoksissa laajalla  variaatiolla.  

  • REFERENCE   7  (residues 1 to 2439)
  AUTHORS   Bartman AE, Buisine MP, Aubert JP, Niehans GA, Toribara NW, Kim YS,
            Kelly EJ, Crabtree JE and Ho SB.
  TITLE     MUC6 secretory mucin gene is expressed in a wide variety of
            epithelial tissues
  JOURNAL   J. Pathol. 186 (4), 398-405 (1998)
   PUBMED   10209489 
 
(Finnish) 1998 Referenss 8. Ihmisen musiinigeenit MUC2, MUC3, MUC4,
 MUS5AC ja MUC6  ilmentyvät vakaasti ja niillä on erittäin  laaja mRNA 
ja niissä ilmenee  vaihtelevaa pituuspolymorfiaa. On eräs parannettu
 tutkimusmetodi  laajojen mRNA- sekvenssien analysoimiseen. 
  • REFERENCE   8  (residues 1 to 2439)
  AUTHORS   Debailleul V, Laine A, Huet G, Mathon P, d'Hooghe MC, Aubert JP and
            Porchet N.
  TITLE     Human mucin genes MUC2, MUC3, MUC4, MUC5AC, MUC5B, and MUC6 express
            stable and extremely large mRNAs and exhibit a variable length
            polymorphism. An improved method to analyze large mRNAs
  JOURNAL   J. Biol. Chem. 273 (2), 881-890 (1998)
   PUBMED   9422745

(Finnish)  1997 Referenssi 9. On analysoitu MUC6 -sekretorisen musiinin
 C-terminaali ja primaarinen aminohappojärjestys
  • REFERENCE   9  (residues 1 to 2439).
  AUTHORS   Toribara NW, Ho SB, Gum E, Gum JR Jr, Lau P and Kim YS.
  TITLE     The carboxyl-terminal sequence of the human secretory mucin, MUC6.
            Analysis Of the primary amino acid sequence
  JOURNAL   J. Biol. Chem. 272 (26), 16398-16403 (1997)
   PUBMED   9195947

(Finnish) 1993 referenssi 10.  Ihmisen gastrinen mukoosi. 
Ilmenemän kloonauksessa on tunnistettu  eräs  ainutlaatuinen laji. 
 
  •  
 REFERENCE   10 (residues 1 to 2439)
  AUTHORS   Toribara NW, Roberton AM, Ho SB, Kuo WL, Gum E, Hicks JW, Gum JR
            Jr, Byrd JC, Siddiki B and Kim YS.
  TITLE     Human gastric mucin. Identification of a unique species by
            expression cloning
  JOURNAL   J. Biol. Chem. 268 (8), 5879-5885 (1993)
   PUBMED   7680650

(Finnish)  Kommentti 2007 
Sekvenssin päivitys on tehty 25.7.2007. 
Aminohappoja  1..2439 ”mucin-6-prekursori”
1..22
23.. 2439 tuote ”Mucin-6”
Domeeneja:  
VWD,C8,TIL,VWC,VWD,C8,TIL,TIL,VWC,VWD,C8,Trunc,Appr.repeats,BDLF3,CT.  
  • COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC139749.4.
            This sequence is a reference standard in the RefSeqGene project.
            On or before Jul 25, 2007 this sequence version replaced
            XP_290540.7, XP_949181.2, NP_005952.1.
            
            Summary: This gene encodes a member of the mucin protein family.
            Mucins are high molecular weight glycoproteins produced by many
            epithelial tissues. The protein encoded by this gene is secreted
            and forms an insoluble mucous barrier that protects the gut lumen.
            [provided by RefSeq, Dec 2016].
            
            Sequence Note: The RefSeq transcript was derived from genomic
            sequence based on transcript alignments and the published
            description of the gene structure (PubMed ID 15081123).
            
            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##
            RNAseq introns :: mixed/partial sample support SAMEA1968189,
                              SAMEA1968968 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..2439
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     Protein         1..2439
                     /product="mucin-6 precursor"
                     /note="mucin-6; gastric mucin-6"
                     /calculated_mol_wt=254750
     sig_peptide     1..22
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="{ECO:0000255}; propagated from UniProtKB/Swiss-Prot
                     (Q6W4X9.3)"
                     /calculated_mol_wt=2321
     mat_peptide     23..2439
                     /product="Mucin-6"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6W4X9.3)"
                     /calculated_mol_wt=254750
     Region          40..192
                     /region_name="VWD"
                     /note="von Willebrand factor (vWF) type D domain;
                     smart00216"
                     /db_xref="CDD:214566"
     Region          228..297
                     /region_name="C8"
                     /note="C8 domain; pfam08742"
                     /db_xref="CDD:285899"
     Region          302..357
                     /region_name="TIL"
                     /note="Trypsin Inhibitor like cysteine rich domain;
                     pfam01826"
                     /db_xref="CDD:280072"
     Region          359..>403
                     /region_name="VWC_out"
                     /note="von Willebrand factor (vWF) type C domain;
                     smart00215"
                     /db_xref="CDD:214565"
     Region          386..549
                     /region_name="VWD"
                     /note="von Willebrand factor (vWF) type D domain;
                     smart00216"
                     /db_xref="CDD:214566"
     Region          588..660
                     /region_name="C8"
                     /note="C8 domain; pfam08742"
                     /db_xref="CDD:285899"
     Region          664..721
                     /region_name="TIL"
                     /note="Trypsin Inhibitor like cysteine rich domain;
                     pfam01826"
                     /db_xref="CDD:280072"
     Region          782..827
                     /region_name="TIL"
                     /note="Trypsin Inhibitor like cysteine rich domain;
                     pfam01826"
                     /db_xref="CDD:280072"
     Region          829..886
                     /region_name="VWC"
                     /note="von Willebrand factor type C domain; cl17735"
                     /db_xref="CDD:302663"
     Region          868..1017
                     /region_name="VWD"
                     /note="von Willebrand factor type D domain; pfam00094"
                     /db_xref="CDD:278521"
     Region          1057..1127
                     /region_name="C8"
                     /note="C8 domain; pfam08742"
                     /db_xref="CDD:285899"
     Region          1561..1738
                     /region_name="1, truncated"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6W4X9.3)"
     Region          1607..1953
                     /region_name="Approximate repeats"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6W4X9.3)"
     Region          2188..>2343
                     /region_name="PHA03255"
                     /note="BDLF3; Provisional"
                     /db_xref="CDD:165513"
     Region          2351..2434
                     /region_name="CT"
                     /note="C-terminal cystine knot-like domain (CTCK);
                     smart00041"
                     /db_xref="CDD:214482"
     CDS             1..2439
                     /gene="MUC6"
                     /gene_synonym="MUC-6"
                     /coded_by="NM_005961.2:52..7371"
                     /db_xref="CCDS:CCDS44513.1"
                     /db_xref="GeneID:4588"
                     /db_xref="HGNC:HGNC:7517"
                     /db_xref="MIM:158374"
ORIGIN      
        1 mvqrwlllsc cgallsagla ntsytspglq rlkdspqtap dkgqcstwga ghfstfdhhv
       61 ydfsgtcnyi faatckdafp tfsvqlrrgp dgsisriive lgasvvtvse aiisvkdigv
      121 islpytsngl qitpfgqsvr lvakqlelel evvwgpdshl mvlverkymg qmcglcgnfd
      181 gkvtnefvse egkflephkf aalqklddpg eictfqdips thvrqaqhar ictqlltlva
      241 pecsvskepf vlscqadvaa apqpgpqnss catlseysrq csmvgqpvrr wrspglcsvg
      301 qcpanqvyqe cgsacvktcs npqhscsssc tfgcfcpegt vlndlsnnht cvpvtqcpcv
      361 lhgamyapge vtiaacqtcr ctlgrwvcte rpcpghcsle ggsfvttfda rpyrfhgtct
      421 yillqspqlp edgalmavyd ksgvshsets lvavvylsrq dkivisqdev vtnngeakwl
      481 pyktrnitvf rqtsthlqma tsfglelvvq lrpifqayvt vgpqfrgqtr glcgnfngdt
      541 tddfttsmgi aegtaslfvd swragncpaa leretdpcsm sqlnkvcaet hcsmllrtgt
      601 vferchatvn papfykrcvy qacnyeetfp hicaalgdyv hacslrgvll wgwrssvdnc
      661 tipctgnttf synsqacert clslsdrate chhsavpvdg cncpdgtyln qkgecvrkaq
      721 cpcilegykf ilaeqstvin gitchcingr lscpqrpqmf lascqapktf kscsqssenk
      781 fgaacaptcq mlatgvacvp tkcepgcvca eglyenadgq cvppeecpce fsgvsypgga
      841 elhtdcrtcs csrgrwacqq gthcpstctl ygeghvitfd gqrfvfdgnc eyilatdvcg
      901 vndsqptfki ltenvicgns gvtcsraiki flgglsvvla drnytvtgee phvqlgvtpg
      961 alslvvdisi pgrynltliw nrhmtiliri arasqdplcg lcgnfngnmk ddfetrsryv
     1021 asselelvns wkesplcgdv sfvtdpcsln afrrswaerk csvinsqtfa tchskvyhlp
     1081 yyeacvrdac gcdsggdcec lcdavaayaq acldkgvcvd wrtpafcpiy cgfynthtqd
     1141 ghgeyqytqe anctwhyqpc lcpsqpqsvp gsniegcync sqdeyfdhee gvcvpcmppt
     1201 tpqppttpql pttgsrptqv wpmtgtstti gllsstgpsp ssnhtpaspt qtpllpatlt
     1261 sskptassge pprpttavtp qatsglppta tlrstatkpt vtqattrata staspattst
     1321 aqsttrttmt lptpatsgts ptlpkstnqe lpgttatqtt gprptpastt gpttpqpgqp
     1381 trptatettq trttteyttp qtphtthspp tagspvpstg pvtatsfhat ttyptpshpe
     1441 ttlpthvppf stslvtpsth tvitpthaqm atsasnhsap tgtipppttl katgsthtap
     1501 pitpttsgts qahssfstnk tptslhshts sthhpevtpt stttitpnpt strtrtpvah
     1561 tnsatssrpp ppftthsppt gsspfsstgp mtatsfkttt typtpshpqt tlpthvppfs
     1621 tslvtpstht vitpthaqma tsasihsmpt gtipppttlk atgsthtapt mtlttsgtsq
     1681 alsslntakt stslhshtss thhaeatsts ttnitpnpts tgtppmtvtt sgtsqsrssf
     1741 staktstslh shtssthhpe vtststtsit pnhtstgtrt pvahttsats srlptpftth
     1801 spptgttpis stgpvtatsf qttttyptps hphttlpthv psfstslvtp sthtviipth
     1861 tqmatsasih smptgtippp ttikatgsth tappmtptts gtsqspssfs taktstslpy
     1921 htssthhpev tptsttnitp khtstgtrtp vahttsasss rlptpftths pptgsspfss
     1981 tgpmtatsfq ttttyptpsh pqttlpthvp pfstslvtps thtviittht qmatsasihs
     2041 tptgtvpppt tlkatgstht appmtvttsg tsqthssfst atasssfiss sswlpqnsss
     2101 rppsspittq lphlssattp vsttnqlsss fspspsapst vssyvpsshs spqtsspsvg
     2161 tsssfvsapv hsttlssgsh sslsthptta svsasplfps spaasttira tlphtisspf
     2221 tlsallpist vtvsptpssh lasstiafps tprttastht apafssqstt srstslttrv
     2281 ptsgfvslts gvtgiptspv tnlttrhpgp tlspttrflt ssltahgstp asapvsslgt
     2341 ptptspgvcs vreqqeeitf kgcmanvtvt rcegacisaa sfniitqqvd arcsccrplh
     2401 syeqqlelpc pdpstpgrrl vltlqvfshc vcssvacgd
//



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