Tätä musiinia koodaa geeni MUC-21. Proteiini epiglykaniini, musiini-21, on iso kalvoon sitoutunut glykoproteiini. Kalvoprotektion lisäksi tällä molekyylillä on intrasellulaarista signalointitehtävää. Geeni koodaa proteiinin, jossa on N-terminaalissa signaloiva sekvenssi, extrasellulaarinen musiinidomeeni, eräs kantadomeeni, yksi transmembraaninen domeeni ja C-terminaalinen sytoplasminen päätydomeeni. Musiinidomeenissa on O-glykosylaatiokohtia ja se on polymorfinen; isoformeissa on eri määriä ei-identtisiä Pro-, Thr- ja Ser-pitoisuia 15- aminohapon TR-toistoja jokaisessa Jos tämän geenin ilmenemä on poikkeava, sillä on assosiaatiota keuhkojen adenokarsinooman
Summary: This gene encodes a large membrane-bound glycoprotein
which is a member of the mucin family. Mucins are O-glycosylated
proteins that play an essential role in forming protective mucous
barriers on epithelial surfaces. These proteins also play a role in
intracellular signaling. The encoded protein contains an N-terminal
signal sequence, an extracellular mucin domain, a stem domain, a
transmembrane domain, and a C-terminal cytoplasmic tail domain. The
mucin domain contains O-glycosylation sites and is polymorphic with
isoforms containing a variable number of nonidentical proline-,
threonine-, and serine-rich tandem repeats of 15 amino acids each.
The aberrent expression of this gene is associated with lung
adenocarcinoma. [provided by RefSeq, May 2017].
Prekursorirakenne, 566 aminohappoa, ja viitteitä.
2017, Ref.1, MUC21 on merkitsevästi ylössäätynyt purentaelinlimakalvolla haavan paranemisessa.Human gingiva transcriptome during wound healing. MUC21 is
significantly upregulated in human masticatory mucosa during wound healing
2017. Ref.2. Musiinigeenien miR-sitovien kohtien polymorfismi on prediktiivistä kolorektaalin syövän kliiniselle kululle.
Polymorphisms in microRNA binding sites of mucin genes as
predictors of clinical outcome in colorectal cancer patients.
CC genotype of rs886403 in MUC21 is associated with
recurrence in colorectal cancer.
2015. Ref.3. Musiinit, biologisesti relevanttia glykaaniestettä limakalvopuolustukseen.
Mucins: a biologically relevant glycan barrier in mucosal
protection
2013. Ref.4. Kalvoon siotutuneen musiinin muoduloiva domeeni. rakenteesta funktioon.
Membrane-bound mucin modular domains: from structure to function JOURNAL Biochimie 95 (6), 1077-1086 (2013)
2012. Ref.5. Musiini21 ruokatorven levyepiteelissä ja karsinomassa. Analyysi glykoformispesifisin monoklonaalisin vasta-ainein.
Mucin 21 in esophageal squamous epithelia and carcinomas: analysis
with glycoform-specific monoclonal antibodies
2011. Ref.6. Kaksi uutta musiininkaltaista geeniä kloonattu; diffuusille panbronkioliitille altistava lokus.
Molecular cloning of two novel mucin-like genes in the
disease-susceptibility locus for diffuse panbronchiolitis
2010. Ref.7. MUC21/epiglykaniini moduloi soluadheesiota.
Mucin 21/epiglycanin modulates cell adhesion
2010. Ref.8. Kalvoon sioutunut musiini: mekanistista perustaa syöpäsolun kasvun ja elossapysymisen muuntumisiin.
Membrane-bound mucins: the mechanistic basis for alterations in the
growth and survival of cancer cells
2008. Ref.9. Ihmisen epiglykaniinin tunnistus. MUC21, uusi transmembraaninen musiini.
Identification and expression of human epiglycanin/MUC21: a novel
transmembrane mucin
Structure: mucin-21 isoform 1 precursor [Homo sapiens]
NCBI Reference Sequence: NP_001010909.2
LOCUS NP_001010909 566 aa linear PRI 30-SEP-2018 DEFINITION mucin-21 isoform 1 precursor [Homo sapiens]. ACCESSION NP_001010909 XP_371809 VERSION NP_001010909.2 DBSOURCE REFSEQ: accession NM_001010909.4 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 566) AUTHORS Wang Y and Tatakis DN. TITLE Human gingiva transcriptome during wound healing JOURNAL J. Clin. Periodontol. 44 (4), 394-402 (2017) PUBMED 28005267 REMARK GeneRIF: MUC21 is significantly upregulated in human masticatory mucosa during wound healing REFERENCE 2 (residues 1 to 566) AUTHORS Vymetalkova V, Pardini B, Rosa F, Jiraskova K, Di Gaetano C, Bendova P, Levy M, Veskrnova V, Buchler T, Vodickova L, Naccarati A and Vodicka P. TITLE Polymorphisms in microRNA binding sites of mucin genes as predictors of clinical outcome in colorectal cancer patients JOURNAL Carcinogenesis 38 (1), 28-39 (2017) PUBMED 27803053 REMARK GeneRIF: CC genotype of rs886403 in MUC21 is associated with recurrence in colorectal cancer. REFERENCE 3 (residues 1 to 566) AUTHORS Corfield AP. TITLE Mucins: a biologically relevant glycan barrier in mucosal protection JOURNAL Biochim. Biophys. Acta 1850 (1), 236-252 (2015) PUBMED 24821013 REMARK Review article REFERENCE 4 (residues 1 to 566) AUTHORS Jonckheere N, Skrypek N, Frenois F and Van Seuningen I. TITLE Membrane-bound mucin modular domains: from structure to function JOURNAL Biochimie 95 (6), 1077-1086 (2013) PUBMED 23178705 REMARK Review article REFERENCE 5 (residues 1 to 566) AUTHORS Tian Y, Denda-Nagai K, Kamata-Sakurai M, Nakamori S, Tsukui T, Itoh Y, Okada K, Yi Y and Irimura T. TITLE Mucin 21 in esophageal squamous epithelia and carcinomas: analysis with glycoform-specific monoclonal antibodies JOURNAL Glycobiology 22 (9), 1218-1226 (2012) PUBMED 22611128 REFERENCE 6 (residues 1 to 566) AUTHORS Hijikata M, Matsushita I, Tanaka G, Tsuchiya T, Ito H, Tokunaga K, Ohashi J, Homma S, Kobashi Y, Taguchi Y, Azuma A, Kudoh S and Keicho N. TITLE Molecular cloning of two novel mucin-like genes in the disease-susceptibility locus for diffuse panbronchiolitis JOURNAL Hum. Genet. 129 (2), 117-128 (2011) PUBMED 20981447 REFERENCE 7 (residues 1 to 566) AUTHORS Yi Y, Kamata-Sakurai M, Denda-Nagai K, Itoh T, Okada K, Ishii-Schrade K, Iguchi A, Sugiura D and Irimura T. TITLE Mucin 21/epiglycanin modulates cell adhesion JOURNAL J. Biol. Chem. 285 (28), 21233-21240 (2010) PUBMED 20388707 REMARK GeneRIF: Mucin 21/epiglycanin modulates cell adhesion REFERENCE 8 (residues 1 to 566) AUTHORS Bafna S, Kaur S and Batra SK. TITLE Membrane-bound mucins: the mechanistic basis for alterations in the growth and survival of cancer cells JOURNAL Oncogene 29 (20), 2893-2904 (2010) PUBMED 20348949 REMARK Review article REFERENCE 9 (residues 1 to 566) AUTHORS Itoh Y, Kamata-Sakurai M, Denda-Nagai K, Nagai S, Tsuiji M, Ishii-Schrade K, Okada K, Goto A, Fukayama M and Irimura T. TITLE Identification and expression of human epiglycanin/MUC21: a novel transmembrane mucin JOURNAL Glycobiology 18 (1), 74-83 (2008) PUBMED 17977904 REMARK GeneRIF: Identification and expression of human epiglycanin/MUC21: a novel transmembrane mucin COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA763771.1, BC105737.1, DC373882.1, AK298642.1, BC105735.1 and AL669830.9. This sequence is a reference standard in the RefSeqGene project. On Nov 24, 2007 this sequence version replaced NP_001010909.1. Transcript Variant: This variant (1) represents the shortest transcript and encodes isoform (1). Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMEA2142586, SAMEA2147975 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..566 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="6" /map="6p21.33" Protein 1..566 /product="mucin-21 isoform 1 precursor" /note="epiglycanin; mucin-21" /calculated_mol_wt=51586 sig_peptide 1..24 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2660 mat_peptide 25..566 /product="Mucin-21" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q5SSG8.2)" /calculated_mol_wt=51586 Region 31..435 /region_name="28 X 15 AA approximate tandem repeats" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q5SSG8.2)" Region 32..97 /region_name="Epiglycanin_TR" /note="Tandem-repeating region of mucin, epiglycanin-like; pfam05647" /db_xref="CDD:283334" Region 435..449 /region_name="Repetitive region" /experiment="experimental evidence, no additional details recorded" /note="28; propagated from UniProtKB/Swiss-Prot (Q5SSG8.2)" Region 464..562 /region_name="Epiglycanin_C" /note="Mucin, catalytic, TM and cytoplasmic tail region; pfam14654" /db_xref="CDD:291326" Site 480..500 /site_type="transmembrane region" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q5SSG8.2)" Site 502..503 /site_type="cleavage" /experiment="experimental evidence, no additional details recorded" /note="Cleavage. {ECO:0000255}; propagated from UniProtKB/Swiss-Prot (Q5SSG8.2)" Region 521..566 /region_name="Cytoplasmic tail" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q5SSG8.2)" CDS 1..566 /gene="MUC21" /gene_synonym="C6orf205; KMQK697; MUC-21" /coded_by="NM_001010909.4:252..1952" /note="isoform 1 precursor is encoded by transcript variant 1" /db_xref="CCDS:CCDS34388.1" /db_xref="GeneID:394263" /db_xref="HGNC:HGNC:21661" /db_xref="MIM:616991" ORIGIN 1 mkmqkgnvll mfglllhlea atnsnetsts antgssviss gastatnsgs svtssgvsta 61 tisgssvtsn gvsivtnsef httssgista tnsefstvss gisiatnses sttssgasta 121 tnsesstpss gastatnsds sttssgasta tnsdssttss eastatnses sttssgasta 181 tnsesstvss rastatnses sttssgasta tnsesrttsn gagtatnses sttssgasta 241 tnsesstpss gagtatnses sttssgagta tnsesstvss gistvtnses stpssganta 301 tnsessttss gantatnsds sttssgasta tnsessttss gastatnses sttssgasta 361 tnsgssttss gtstatnses stvssgasta ttsessttss gastatnses stvssgasta 421 tnsessttss gantatnsgs svtsagsgta altgmhttsh sastavseak pggslvpwei 481 flitlvsvva avglfaglff cvrnslslrn tfntavyhph glnhglgpgp ggnhgaphrp 541 rwspnwfwrr pvssiamems grnsgp //
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