LOCUS       NM_001282506            2493 bp    mRNA    linear   PRI 24-APR-2022
DEFINITION  Homo sapiens mucin 20, cell surface associated (MUC20), transcript
            variant 1, mRNA.
ACCESSION   NM_001282506 XM_005269304
VERSION     NM_001282506.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2493)
  AUTHORS   Fu L, Yonemura A, Yasuda-Yoshihara N, Umemoto T, Zhang J, Yasuda T,
            Uchihara T, Akiyama T, Kitamura F, Yamashita K, Okamoto Y, Bu L,
            Wei F, Hu X, Liu Y, Ajani JA, Tan P, Baba H and Ishimoto T.
  TITLE     Intracellular MUC20 variant 2 maintains mitochondrial calcium
            homeostasis and enhances drug resistance in gastric cancer
  JOURNAL   Gastric Cancer 25 (3), 542-557 (2022)
   PUBMED   35166958
  REMARK    GeneRIF: Intracellular MUC20 variant 2 maintains mitochondrial
            calcium homeostasis and enhances drug resistance in gastric cancer.
REFERENCE   2  (bases 1 to 2493)
  AUTHORS   Wang F, Panjwani N, Wang C, Sun L and Strug LJ.
  TITLE     A flexible summary statistics-based colocalization method with
            application to the mucin cystic fibrosis lung disease modifier
            locus
  JOURNAL   Am J Hum Genet 109 (2), 253-269 (2022)
   PUBMED   35065708
  REMARK    GeneRIF: A flexible summary statistics-based colocalization method
            with application to the mucin cystic fibrosis lung disease modifier
            locus.
REFERENCE   3  (bases 1 to 2493)
  AUTHORS   Wang X, Shirazi F, Yan W, Liu X, Wang H, Orlowski RZ and Wang H.
  TITLE     Mucin 20 modulates proteasome capacity through c-Met signalling to
            increase carfilzomib sensitivity in mantle cell lymphoma
  JOURNAL   J Cell Mol Med 25 (21), 10164-10174 (2021)
   PUBMED   34651428
  REMARK    GeneRIF: Mucin 20 modulates proteasome capacity through c-Met
            signalling to increase carfilzomib sensitivity in mantle cell
            lymphoma.
REFERENCE   4  (bases 1 to 2493)
  AUTHORS   Sasahira T, Kurihara-Shimomura M, Shimomura H, Bosserhoff AK and
            Kirita T.
  TITLE     Identification of oral squamous cell carcinoma markers MUC2 and
            SPRR1B downstream of TANGO
  JOURNAL   J Cancer Res Clin Oncol 147 (6), 1659-1672 (2021)
   PUBMED   33620575
  REMARK    GeneRIF: Identification of oral squamous cell carcinoma markers
            MUC2 and SPRR1B downstream of TANGO.
REFERENCE   5  (bases 1 to 2493)
  AUTHORS   Dai R, Zhou Y, Chen Z, Zou Z, Pan Z, Liu P and Gao X.
  TITLE     Lnc-MUC20-9 binds to ROCK1 and functions as a tumor suppressor in
            bladder cancer
  JOURNAL   J Cell Biochem 121 (10), 4214-4225 (2020)
   PUBMED   31898364
  REMARK    GeneRIF: Lnc-MUC20-9 binds to ROCK1 and functions as a tumor
            suppressor in bladder cancer.
REFERENCE   6  (bases 1 to 2493)
  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   7  (bases 1 to 2493)
  AUTHORS   Moehle C, Ackermann N, Langmann T, Aslanidis C, Kel A,
            Kel-Margoulis O, Schmitz-Madry A, Zahn A, Stremmel W and Schmitz G.
  TITLE     Aberrant intestinal expression and allelic variants of mucin genes
            associated with inflammatory bowel disease
  JOURNAL   J Mol Med (Berl) 84 (12), 1055-1066 (2006)
   PUBMED   17058067
REFERENCE   8  (bases 1 to 2493)
  AUTHORS   Li G, Zhang H, Lv J, Hou P and Wang H.
  TITLE     Tandem repeats polymorphism of MUC20 is an independent factor for
            the progression of immunoglobulin A nephropathy
  JOURNAL   Am J Nephrol 26 (1), 43-49 (2006)
   PUBMED   16508246
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 2493)
  AUTHORS   Higuchi T, Orita T, Katsuya K, Yamasaki Y, Akiyama K, Li H,
            Yamamoto T, Saito Y and Nakamura M.
  TITLE     MUC20 suppresses the hepatocyte growth factor-induced Grb2-Ras
            pathway by binding to a multifunctional docking site of met
  JOURNAL   Mol Cell Biol 24 (17), 7456-7468 (2004)
   PUBMED   15314156
  REMARK    GeneRIF: Results suggest that MUC20 is a novel regulator of the Met
            signaling cascade which has a role in suppression of the Grb2-Ras
            pathway.
REFERENCE   10 (bases 1 to 2493)
  AUTHORS   Higuchi T, Orita T, Nakanishi S, Katsuya K, Watanabe H, Yamasaki Y,
            Waga I, Nanayama T, Yamamoto Y, Munger W, Sun HW, Falk RJ, Jennette
            JC, Alcorta DA, Li H, Yamamoto T, Saito Y and Nakamura M.
  TITLE     Molecular cloning, genomic structure, and expression analysis of
            MUC20, a novel mucin protein, up-regulated in injured kidney
  JOURNAL   J Biol Chem 279 (3), 1968-1979 (2004)
   PUBMED   14565953
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC348309.1, AC233280.2,
            BC044243.1 and AB098731.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001282506.1.
            
            Summary: This gene encodes a member of the mucin protein family.
            Mucins are high molecular weight glycoproteins secreted by many
            epithelial tissues to form an insoluble mucous barrier. The
            C-terminus of this family member associates with the
            multifunctional docking site of the MET proto-oncogene and
            suppresses activation of some downstream MET signaling cascades.
            The protein features a mucin tandem repeat domain that varies
            between two and six copies in most individuals. Multiple variants
            encoding different isoforms have been found for this gene. A
            related pseudogene, which is also located on chromosome 3, has been
            identified. [provided by RefSeq, Apr 2014].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a). This variant
            includes twelve mucin tandem repeats and is represented on the
            primary chromosome 3 assembly, and the ALT_REF_LOCI_1,
            ALT_REF_LOCI_3 and ALT_REF_LOCI_5 alternate haplotypes of the
            reference genome.
            
            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.
            
            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 :: single sample supports all introns SAMEA1968189,
                              SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000447234.7/ ENSP00000414350.2
            RefSeq Select criteria :: based on expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-435               DC348309.1         97-531
            436-1620            AC233280.2         68543-69727         c
            1621-2306           BC044243.1         1091-1776
            2307-2358           AC233280.2         61320-61371         c
            2359-2493           AB098731.1         2193-2327
FEATURES             Location/Qualifiers
     source          1..2493
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q29"
     gene            1..2493
                     /gene="MUC20"
                     /gene_synonym="MUC-20"
                     /note="mucin 20, cell surface associated"
                     /db_xref="GeneID:200958"
                     /db_xref="HGNC:HGNC:23282"
                     /db_xref="MIM:610360"
     exon            1..106
                     /gene="MUC20"
                     /gene_synonym="MUC-20"
                     /inference="alignment:Splign:2.1.0"
     CDS             31..2160
                     /gene="MUC20"
                     /gene_synonym="MUC-20"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; transmembrane mucin MUC20S"
                     /codon_start=1
                     /product="mucin-20 isoform a precursor"
                     /protein_id="NP_001269435.1"
                     /db_xref="CCDS:CCDS63877.1"
                     /db_xref="GeneID:200958"
                     /db_xref="HGNC:HGNC:23282"
                     /db_xref="MIM:610360"
                     /translation="MGCLWGLALPLFFFCWEVGVSGSSAGPSTRRADTAMTTDDTEVP
                     AMTLAPGHAALETQTLSAETSSRASTPAGPIPEAETRGAKRISPARETRSFTKTSPNF
                     MVLIATSVETSAASGSPEGAGMTTVQTITGSDPREAIFDTLCTDDSSEEAKTLTMDIL
                     TLAHTSTEAKGLSSESSASSDSPHPVITPSRASESSASSDGPHPVITPSRASESSASS
                     DGPHPVITPSRASESSASSDGPHPVITPSRASESSASSDGPHPVITPSRASESSASSD
                     GPHPVITPSRASESSASSDGPHPVITPSRASESSASSDGPHPVITPSRASESSASSDG
                     PHPVITPSRASESSASSDGLHPVITPSRASESSASSDGPHPVITPSRASESSASSDGP
                     HPVITPSWSPGSDVTLLAEALVTVTNIEVINCSITEIETTTSSIPGASDTDLIPTEGV
                     KASSTSDPPALPDSTEAKPHITEVTASAETLSTAGTTESAAPDATVGTPLPTNSATER
                     EVTAPGATTLSGALVTVSRNPLEETSALSVETPSYVKVSGAAPVSIEAGSAVGKTTSF
                     AGSSASSYSPSEAALKNFTPSETPTMDIATKGPFPTSRDPLPSVPPTTTNSSRGTNST
                     LAKITTSAKTTMKPPTATPTTARTRPTTDVSAGENGGFLLLRLSVASPEDLTDPRVAE
                     RLMQQLHRELHAHAPHFQVSLLRVRRG"
     exon            107..1999
                     /gene="MUC20"
                     /gene_synonym="MUC-20"
                     /inference="alignment:Splign:2.1.0"
     exon            2000..2091
                     /gene="MUC20"
                     /gene_synonym="MUC-20"
                     /inference="alignment:Splign:2.1.0"
     exon            2092..2493
                     /gene="MUC20"
                     /gene_synonym="MUC-20"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2425..2430
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MUC20"
                     /gene_synonym="MUC-20"
                     /note="hexamer: AGTAAA"
     polyA_site      2448
                     /gene="MUC20"
                     /gene_synonym="MUC-20"
                     /note="major polyA site"
     regulatory      2469..2474
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MUC20"
                     /gene_synonym="MUC-20"
                     /note="hexamer: ATTAAA"
     polyA_site      2493
                     /gene="MUC20"
                     /gene_synonym="MUC-20"
                     /note="major polyA site"
ORIGIN      
        1 agttctgtgg agcagcggtg gccggctagg atgggctgtc tctggggtct ggctctgccc
       61 cttttcttct tctgctggga ggttggggtc tctgggagct ctgcaggccc cagcacccgc
      121 agagcagaca ctgcgatgac aacggacgac acagaagtgc ccgctatgac tctagcaccg
      181 ggccacgccg ctctggaaac tcaaacgctg agcgctgaga cctcttctag ggcctcaacc
      241 ccagccggcc ccattccaga agcagagacc aggggagcca agagaatttc ccctgcaaga
      301 gagaccagga gtttcacaaa aacatctccc aacttcatgg tgctgatcgc cacctccgtg
      361 gagacatcag ccgccagtgg cagccccgag ggagctggaa tgaccacagt tcagaccatc
      421 acaggcagtg atcccaggga agccatcttt gacacccttt gcaccgatga cagctctgaa
      481 gaggcaaaga cactcacaat ggacatattg acattggctc acacctccac agaagctaag
      541 ggcctgtcct cagagagcag cgcctcttcc gacagccccc atccagtcat caccccgtca
      601 cgggcctcag agagcagcgc ctcttccgac ggcccccatc cagtcatcac cccgtcacgg
      661 gcctcagaga gcagcgcctc ttccgacggc ccccatccag tcatcacccc gtcacgggcc
      721 tcagagagca gcgcctcttc cgacggcccc catccagtca tcaccccgtc acgggcctca
      781 gagagcagcg cctcttccga cggcccccat ccagtcatca ccccgtcacg ggcctcagag
      841 agcagcgcct cttccgacgg cccccatcca gtcatcaccc cgtcacgggc ctcagagagc
      901 agcgcctctt ccgacggccc ccatccagtc atcaccccgt cacgggcctc agagagcagc
      961 gcctcttccg acggccccca tccagtcatc accccgtcac gggcctcaga gagcagcgcc
     1021 tcttccgacg gcccccatcc agtcatcacc ccgtcacggg cctcagagag cagcgcctct
     1081 tccgacggcc tccatccagt catcaccccg tcacgggcct cagagagcag cgcctcttcc
     1141 gacggccccc atccagtcat caccccgtca cgggcctcag agagcagcgc ctcttccgac
     1201 ggcccccatc cagtcatcac cccctcatgg tccccgggat ctgacgtcac tctcctcgct
     1261 gaagccctgg tgactgtcac aaacatcgag gttattaatt gcagcatcac agaaatagaa
     1321 acaacgactt ccagcatccc tggggcctca gacacagatc tcatccccac ggaaggggtg
     1381 aaggcctcgt ccacctccga tccaccagct ctgcctgact ccactgaagc aaaaccacac
     1441 atcactgagg tcacagcctc tgccgagacc ctgtccacag ccggcaccac agagtcagct
     1501 gcacctgatg ccacggttgg gaccccactc cccactaaca gcgccacaga aagagaagtg
     1561 acagcacccg gggccacgac cctcagtgga gctctggtca cagttagcag gaatcccctt
     1621 gaagaaacct cagccctctc tgttgagaca ccaagttacg tcaaagtctc aggagcagct
     1681 ccggtctcca tagaggctgg gtcagcagtg ggcaaaacaa cttcctttgc tgggagctct
     1741 gcttcctcct acagcccctc ggaagccgcc ctcaagaact tcaccccttc agagacaccg
     1801 accatggaca tcgcaaccaa ggggcccttc cccaccagca gggaccctct tccttctgtc
     1861 cctccgacta caaccaacag cagccgaggg acgaacagca ccttagccaa gatcacaacc
     1921 tcagcgaaga ccacgatgaa gcccccaaca gccacgccca cgactgcccg gacgaggccg
     1981 accacagacg tgagtgcagg tgaaaatgga ggtttcctcc tcctgcggct gagtgtggct
     2041 tccccggaag acctcactga ccccagagtg gcagaaaggc tgatgcagca gctccaccgg
     2101 gaactccacg cccacgcgcc tcacttccag gtctccttac tgcgtgtcag gagaggctaa
     2161 cggacatcag ctgcagccag gcatgtcccg tatgccaaaa gagggtgctg cccctagcct
     2221 gggcccccac cgacagactg cagctgcgtt actgtgctga gaggtaccca gaaggttccc
     2281 atgaagggca gcatgtccaa gcccctgacc ccagatgtgg caacaggacc ctcgctcaca
     2341 tccaccggag tgtatgtgtg gggaggggct tcacctgttc ccagaggtgt ccttggactc
     2401 accttggcac atgttctgtg tttcagtaaa gagagacctg atcacccatc tgtgtgcttc
     2461 catcctgcat taaaattcac tcagtgtggc cca
//
