LOCUS       NM_001204286            1853 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens mucin 1, cell surface associated (MUC1), transcript
            variant 10, mRNA.
ACCESSION   NM_001204286
VERSION     NM_001204286.1
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  (bases 1 to 1853)
  AUTHORS   Yamada,Y., Terada,Y., Yamanaka,R., Enoyoshi,M. and Ito,K.
  TITLE     TRPV4 activation in human corneal epithelial cells promotes
            membrane mucin production
  JOURNAL   Biochem Biophys Res Commun 731, 150402 (2024)
   PUBMED   39024979
  REMARK    GeneRIF: TRPV4 activation in human corneal epithelial cells
            promotes membrane mucin production.
REFERENCE   2  (bases 1 to 1853)
  AUTHORS   Levitin,F., Baruch,A., Weiss,M., Stiegman,K., Hartmann,M.L.,
            Yoeli-Lerner,M., Ziv,R., Zrihan-Licht,S., Shina,S., Gat,A.,
            Lifschitz,B., Simha,M., Stadler,Y., Cholostoy,A., Gil,B.,
            Greaves,D., Keydar,I., Zaretsky,J., Smorodinsky,N. and
            Wreschner,D.H.
  TITLE     A novel protein derived from the MUC1 gene by alternative splicing
            and frameshifting
  JOURNAL   J Biol Chem 280 (11), 10655-10663 (2005)
   PUBMED   15623537
  REMARK    GeneRIF: analysis of a novel MUC1 protein isoform MUC1/ZD, which is
            generated by an alternative splicing event that both deletes the
            tandem-repeat array and leads to a C-terminal reading frameshift
REFERENCE   3  (bases 1 to 1853)
  AUTHORS   Parry,S., Silverman,H.S., McDermott,K., Willis,A.,
            Hollingsworth,M.A. and Harris,A.
  TITLE     Identification of MUC1 proteolytic cleavage sites in vivo
  JOURNAL   Biochem Biophys Res Commun 283 (3), 715-720 (2001)
   PUBMED   11341784
REFERENCE   4  (bases 1 to 1853)
  AUTHORS   Zrihan-Licht,S., Vos,H.L., Baruch,A., Elroy-Stein,O., Sagiv,D.,
            Keydar,I., Hilkens,J. and Wreschner,D.H.
  TITLE     Characterization and molecular cloning of a novel MUC1 protein,
            devoid of tandem repeats, expressed in human breast cancer tissue
  JOURNAL   Eur J Biochem 224 (2), 787-795 (1994)
   PUBMED   7925397
REFERENCE   5  (bases 1 to 1853)
  AUTHORS   Bleyer,A.J., Zivna,M., Kidd,K. and Kmoch,S.
  TITLE     Autosomal Dominant Tubulointerstitial Kidney Disease - MUC1
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   23946964
REFERENCE   6  (bases 1 to 1853)
  AUTHORS   Lancaster,C.A., Peat,N., Duhig,T., Wilson,D.,
            Taylor-Papadimitriou,J. and Gendler,S.J.
  TITLE     Structure and expression of the human polymorphic epithelial mucin
            gene: an expressed VNTR unit
  JOURNAL   Biochem Biophys Res Commun 173 (3), 1019-1029 (1990)
   PUBMED   2268309
REFERENCE   7  (bases 1 to 1853)
  AUTHORS   Tsarfaty,I., Hareuveni,M., Horev,J., Zaretsky,J., Weiss,M.,
            Jeltsch,J.M., Garnier,J.M., Lathe,R., Keydar,I. and Wreschner,D.H.
  TITLE     Isolation and characterization of an expressed hypervariable gene
            coding for a breast-cancer-associated antigen
  JOURNAL   Gene 93 (2), 313-318 (1990)
   PUBMED   1688329
REFERENCE   8  (bases 1 to 1853)
  AUTHORS   Lan,M.S., Batra,S.K., Qi,W.N., Metzgar,R.S. and Hollingsworth,M.A.
  TITLE     Cloning and sequencing of a human pancreatic tumor mucin cDNA
  JOURNAL   J Biol Chem 265 (25), 15294-15299 (1990)
   PUBMED   2394722
REFERENCE   9  (bases 1 to 1853)
  AUTHORS   Gendler,S.J., Lancaster,C.A., Taylor-Papadimitriou,J., Duhig,T.,
            Peat,N., Burchell,J., Pemberton,L., Lalani,E.N. and Wilson,D.
  TITLE     Molecular cloning and expression of human tumor-associated
            polymorphic epithelial mucin
  JOURNAL   J Biol Chem 265 (25), 15286-15293 (1990)
   PUBMED   1697589
REFERENCE   10 (bases 1 to 1853)
  AUTHORS   Ligtenberg,M.J., Vos,H.L., Gennissen,A.M. and Hilkens,J.
  TITLE     Episialin, a carcinoma-associated mucin, is generated by a
            polymorphic gene encoding splice variants with alternative amino
            termini
  JOURNAL   J Biol Chem 265 (10), 5573-5578 (1990)
   PUBMED   2318825
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from J05581.1, AH001451.2,
            AC234582.3 and AA425062.1.
            
            Summary: This gene encodes a membrane-bound protein that 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. This protein is expressed on the apical
            surface of epithelial cells that line the mucosal surfaces of many
            different tissues including lung, breast stomach and pancreas. This
            protein is proteolytically cleaved into alpha and beta subunits
            that form a heterodimeric complex. The N-terminal alpha subunit
            functions in cell-adhesion and the C-terminal beta subunit is
            involved in cell signaling. Overexpression, aberrant intracellular
            localization, and changes in glycosylation of this protein have
            been associated with carcinomas. This gene is known to contain a
            highly polymorphic variable number tandem repeats (VNTR) domain.
            Alternate splicing results in multiple transcript
            variants.[provided by RefSeq, Feb 2011].
            
            Transcript Variant: This variant (10) has multiple differences but
            maintains the reading frame, compared to variant 1. The encoded
            isoform (10) is longer than isoform 1.
            
            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.
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-22                J05581.1           1-22
            23-164              AH001451.2         1-142
            165-165             AC234582.3         10177-10177         c
            166-533             AH001451.2         144-511
            534-540             AC234582.3         6511-6517           c
            541-1836            AH001451.2         619-1914
            1837-1853           AA425062.1         1-17                c
FEATURES             Location/Qualifiers
     source          1..1853
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q22"
     gene            1..1853
                     /gene="MUC1"
                     /gene_synonym="ADMCKD; ADMCKD1; ADTKD2; CA 15-3; Ca15-3;
                     CD227; EMA; H23AG; KL-6; MAM6; MCD; MCKD; MCKD1; MUC-1;
                     MUC-1/SEC; MUC-1/X; MUC1/ZD; PEM; PEMT; PUM"
                     /note="mucin 1, cell surface associated"
                     /db_xref="GeneID:4582"
                     /db_xref="HGNC:HGNC:7508"
                     /db_xref="MIM:158340"
     exon            1..130
                     /gene="MUC1"
                     /gene_synonym="ADMCKD; ADMCKD1; ADTKD2; CA 15-3; Ca15-3;
                     CD227; EMA; H23AG; KL-6; MAM6; MCD; MCKD; MCKD1; MUC-1;
                     MUC-1/SEC; MUC-1/X; MUC1/ZD; PEM; PEMT; PUM"
                     /inference="alignment:Splign:2.1.0"
     CDS             73..1527
                     /gene="MUC1"
                     /gene_synonym="ADMCKD; ADMCKD1; ADTKD2; CA 15-3; Ca15-3;
                     CD227; EMA; H23AG; KL-6; MAM6; MCD; MCKD; MCKD1; MUC-1;
                     MUC-1/SEC; MUC-1/X; MUC1/ZD; PEM; PEMT; PUM"
                     /note="isoform 10 precursor is encoded by transcript
                     variant 10; peanut-reactive urinary mucin; episialin;
                     polymorphic epithelial mucin; H23 antigen; mucin 1,
                     transmembrane; tumor associated epithelial mucin; breast
                     carcinoma-associated antigen DF3; cancer antigen 15-3;
                     carcinoma-associated mucin; tumor-associated epithelial
                     membrane antigen; krebs von den Lungen-6"
                     /codon_start=1
                     /product="mucin-1 isoform 10 precursor"
                     /protein_id="NP_001191215.1"
                     /db_xref="GeneID:4582"
                     /db_xref="HGNC:HGNC:7508"
                     /db_xref="MIM:158340"
                     /translation="MTPGTQSPFFLLLLLTVLTATTAPKPATVVTGSGHASSTPGGEK
                     ETSATQRSSVPSSTEKNAVSMTSSVLSSHSPGSGSSTTQGQDVTLAPATEPASGSAAT
                     WGQDVTSVPVTRPALGSTTPPAHDVTSAPDNKPAPGSTAPPAHGVTSAPDTRPAPGST
                     APPAHGVTSAPDNRPALGSTAPPVHNVTSASGSASGSASTLVHNGTSARATTTPASKS
                     TPFSIPSHHSDTPTTLASHSTKTDASSTHHSTVPPLTSSNHSTSPQLSTGVSFFFLSF
                     HISNLQFNSSLEDPSTDYYQELQRDISEMFLQIYKQGGFLGLSNIKFRPGSVVVQLTL
                     AFREGTINVHDVETQFNQYKTEAASRYNLTISDVSVSDVPFPFSAQSGAGVPGWGIAL
                     LVLVCVLVALAIVYLIALAVCQCRRKNYGQLDIFPARDTYHPMSEYPTYHTHGRYVPP
                     SSTDRSPYEKVSAGNGGSSLSYTNPAVAATSANL"
     exon            131..533
                     /gene="MUC1"
                     /gene_synonym="ADMCKD; ADMCKD1; ADTKD2; CA 15-3; Ca15-3;
                     CD227; EMA; H23AG; KL-6; MAM6; MCD; MCKD; MCKD1; MUC-1;
                     MUC-1/SEC; MUC-1/X; MUC1/ZD; PEM; PEMT; PUM"
                     /inference="alignment:Splign:2.1.0"
     exon            534..987
                     /gene="MUC1"
                     /gene_synonym="ADMCKD; ADMCKD1; ADTKD2; CA 15-3; Ca15-3;
                     CD227; EMA; H23AG; KL-6; MAM6; MCD; MCKD; MCKD1; MUC-1;
                     MUC-1/SEC; MUC-1/X; MUC1/ZD; PEM; PEMT; PUM"
                     /inference="alignment:Splign:2.1.0"
     exon            988..1043
                     /gene="MUC1"
                     /gene_synonym="ADMCKD; ADMCKD1; ADTKD2; CA 15-3; Ca15-3;
                     CD227; EMA; H23AG; KL-6; MAM6; MCD; MCKD; MCKD1; MUC-1;
                     MUC-1/SEC; MUC-1/X; MUC1/ZD; PEM; PEMT; PUM"
                     /inference="alignment:Splign:2.1.0"
     exon            1044..1180
                     /gene="MUC1"
                     /gene_synonym="ADMCKD; ADMCKD1; ADTKD2; CA 15-3; Ca15-3;
                     CD227; EMA; H23AG; KL-6; MAM6; MCD; MCKD; MCKD1; MUC-1;
                     MUC-1/SEC; MUC-1/X; MUC1/ZD; PEM; PEMT; PUM"
                     /inference="alignment:Splign:2.1.0"
     exon            1181..1302
                     /gene="MUC1"
                     /gene_synonym="ADMCKD; ADMCKD1; ADTKD2; CA 15-3; Ca15-3;
                     CD227; EMA; H23AG; KL-6; MAM6; MCD; MCKD; MCKD1; MUC-1;
                     MUC-1/SEC; MUC-1/X; MUC1/ZD; PEM; PEMT; PUM"
                     /inference="alignment:Splign:2.1.0"
     exon            1303..1452
                     /gene="MUC1"
                     /gene_synonym="ADMCKD; ADMCKD1; ADTKD2; CA 15-3; Ca15-3;
                     CD227; EMA; H23AG; KL-6; MAM6; MCD; MCKD; MCKD1; MUC-1;
                     MUC-1/SEC; MUC-1/X; MUC1/ZD; PEM; PEMT; PUM"
                     /inference="alignment:Splign:2.1.0"
     exon            1453..1838
                     /gene="MUC1"
                     /gene_synonym="ADMCKD; ADMCKD1; ADTKD2; CA 15-3; Ca15-3;
                     CD227; EMA; H23AG; KL-6; MAM6; MCD; MCKD; MCKD1; MUC-1;
                     MUC-1/SEC; MUC-1/X; MUC1/ZD; PEM; PEMT; PUM"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1811..1816
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MUC1"
                     /gene_synonym="ADMCKD; ADMCKD1; ADTKD2; CA 15-3; Ca15-3;
                     CD227; EMA; H23AG; KL-6; MAM6; MCD; MCKD; MCKD1; MUC-1;
                     MUC-1/SEC; MUC-1/X; MUC1/ZD; PEM; PEMT; PUM"
                     /note="hexamer: AATAAA"
     polyA_site      1838
                     /gene="MUC1"
                     /gene_synonym="ADMCKD; ADMCKD1; ADTKD2; CA 15-3; Ca15-3;
                     CD227; EMA; H23AG; KL-6; MAM6; MCD; MCKD; MCKD1; MUC-1;
                     MUC-1/SEC; MUC-1/X; MUC1/ZD; PEM; PEMT; PUM"
                     /note="major polyA site"
ORIGIN      
        1 cgctccacct ctcaagcagc cagcgcctgc ctgaatctgt tctgccccct ccccacccat
       61 ttcaccacca ccatgacacc gggcacccag tctcctttct tcctgctgct gctcctcaca
      121 gtgcttacag ctaccacagc ccctaaaccc gcaacagttg ttacgggttc tggtcatgca
      181 agctctaccc caggtggaga aaaggagact tcggctaccc agagaagttc agtgcccagc
      241 tctactgaga agaatgctgt gagtatgacc agcagcgtac tctccagcca cagccccggt
      301 tcaggctcct ccaccactca gggacaggat gtcactctgg ccccggccac ggaaccagct
      361 tcaggttcag ctgccacctg gggacaggat gtcacctcgg tcccagtcac caggccagcc
      421 ctgggctcca ccaccccgcc agcccacgat gtcacctcag ccccggacaa caagccagcc
      481 ccgggctcca ccgccccccc agcccacggt gtcacctcgg ccccggacac caggccggcc
      541 ccgggctcca ccgccccccc agcccatggt gtcacctcgg ccccggacaa caggcccgcc
      601 ttgggctcca ccgcccctcc agtccacaat gtcacctcgg cctcaggctc tgcatcaggc
      661 tcagcttcta ctctggtgca caacggcacc tctgccaggg ctaccacaac cccagccagc
      721 aagagcactc cattctcaat tcccagccac cactctgata ctcctaccac ccttgccagc
      781 catagcacca agactgatgc cagtagcact caccatagca cggtacctcc tctcacctcc
      841 tccaatcaca gcacttctcc ccagttgtct actggggtct ctttcttttt cctgtctttt
      901 cacatttcaa acctccagtt taattcctct ctggaagatc ccagcaccga ctactaccaa
      961 gagctgcaga gagacatttc tgaaatgttt ttgcagattt ataaacaagg gggttttctg
     1021 ggcctctcca atattaagtt caggccagga tctgtggtgg tacaattgac tctggccttc
     1081 cgagaaggta ccatcaatgt ccacgacgtg gagacacagt tcaatcagta taaaacggaa
     1141 gcagcctctc gatataacct gacgatctca gacgtcagcg tgagtgatgt gccatttcct
     1201 ttctctgccc agtctggggc tggggtgcca ggctggggca tcgcgctgct ggtgctggtc
     1261 tgtgttctgg ttgcgctggc cattgtctat ctcattgcct tggctgtctg tcagtgccgc
     1321 cgaaagaact acgggcagct ggacatcttt ccagcccggg atacctacca tcctatgagc
     1381 gagtacccca cctaccacac ccatgggcgc tatgtgcccc ctagcagtac cgatcgtagc
     1441 ccctatgaga aggtttctgc aggtaatggt ggcagcagcc tctcttacac aaacccagca
     1501 gtggcagcca cttctgccaa cttgtagggg cacgtcgccc gctgagctga gtggccagcc
     1561 agtgccattc cactccactc aggttcttca gggccagagc ccctgcaccc tgtttgggct
     1621 ggtgagctgg gagttcaggt gggctgctca cagcctcctt cagaggcccc accaatttct
     1681 cggacacttc tcagtgtgtg gaagctcatg tgggcccctg agggctcatg cctgggaagt
     1741 gttgtggtgg gggctcccag gaggactggc ccagagagcc ctgagatagc ggggatcctg
     1801 aactggactg aataaaacgt ggtctcccac tgcgccaaaa aaaaaaaaaa aaa
//
