LOCUS       NM_001371720            4070 bp    mRNA    linear   PRI 14-FEB-2025
DEFINITION  Homo sapiens mucin 1, cell surface associated (MUC1), transcript
            variant 22, mRNA.
ACCESSION   NM_001371720
VERSION     NM_001371720.2
KEYWORDS    RefSeq; RefSeq 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 4070)
  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 4070)
  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 4070)
  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 4070)
  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 4070)
  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 4070)
  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 4070)
  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 4070)
  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 4070)
  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 4070)
  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 CP068277.2.
            
            On May 2, 2023 this sequence version replaced NM_001371720.1.
            
            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 (22) has multiple differences but
            maintains the reading frame, compared to variant 1. The encoded
            isoform (22) is longer than isoform 1.
            
            Sequence Note: In humans the second exon of the MUC1 gene has a 60
            bp tandem repeat which, according to published reports, varies from
            20 to 125 repeat units. This RefSeq represents an allele with 44
            repeat units. The region of GRCh38 corresponding to the second exon
            of the MUC1 gene has approximately 58 imperfect copies of the
            repeat unit with multiple frameshifting indels.
            
            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 :: partial sample support SAMEA2154405 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on manual assertion, longest
                                      protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-124               CP068277.2         154331349-154331472 c
            125-3219            CP068277.2         154327779-154330873 c
            3220-3275           CP068277.2         154327624-154327679 c
            3276-3412           CP068277.2         154327338-154327474 c
            3413-3534           CP068277.2         154327071-154327192 c
            3535-3684           CP068277.2         154326841-154326990 c
            3685-4070           CP068277.2         154325440-154325825 c
FEATURES             Location/Qualifiers
     source          1..4070
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q22"
     gene            1..4070
                     /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..124
                     /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             67..3759
                     /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 22 precursor is encoded by transcript
                     variant 22; 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 22 precursor"
                     /protein_id="NP_001358649.2"
                     /db_xref="GeneID:4582"
                     /db_xref="HGNC:HGNC:7508"
                     /db_xref="MIM:158340"
                     /translation="MTPGTQSPFFLLLLLTVLTATTAPKPATVVTGSGHASSTPGGEK
                     ETSATQRSSVPSSTEKNAVSMTSSVLSSHSPGSGSSTTQGQDVTLAPATEPASGSAAT
                     WGQDVTSVPVTRPALGSTTPPAHDVTSAPDNKPAPGSTAPPAHGVTSAPDTRPAPGST
                     APQAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPG
                     STAPAAHGVTSAPDTRPAPGSTAPQAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPA
                     PGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPESRPAPGSTAPAAHGVTSAPESR
                     PAPGSTAPAAHGVTSAPESRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPD
                     TRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSA
                     PESRPAPGSTAPPAHGVTSAPESRPAPGSTAPAAHGVTSAPESRPAPGSTAPAAHGVT
                     SAPESRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHG
                     VTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPA
                     HGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPAAHGVTSAPESRPAPGSTAP
                     AAHGVTSAPESRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGST
                     APPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPG
                     STAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPA
                     PGSTAPPAHGVTSAPDTRRAPGSTPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVT
                     SAPDNRPALGSTAPPVHNVTSASGSASGSASTLVHNGTSARATTTPASKSTPFSIPSH
                     HSDTPTTLASHSTKTDASSTHHSTVPPLTSSNHSTSPQLSTGVSFFFLSFHISNLQFN
                     SSLEDPSTDYYQELQRDISEMFLQIYKQGGFLGLSNIKFRPGSVVVQLTLAFREGTIN
                     VHDVETQFNQYKTEAASRYNLTISDVSVSDVPFPFSAQSGAGVPGWGIALLVLVCVLV
                     ALAIVYLIALAVCQCRRKNYGQLDIFPARDTYHPMSEYPTYHTHGRYVPPSSTDRSPY
                     EKVSAGNGGSSLSYTNPAVAATSANL"
     exon            125..3219
                     /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            3220..3275
                     /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            3276..3412
                     /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            3413..3534
                     /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            3535..3684
                     /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            3685..4070
                     /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      4043..4048
                     /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      4070
                     /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 acctctcaag cagccagcgc ctgcctgaat ctgttctgcc ccctccccac ccatttcacc
       61 accaccatga caccgggcac ccagtctcct ttcttcctgc tgctgctcct cacagtgctt
      121 acagctacca cagcccctaa acccgcaaca gttgttacgg gttctggtca tgcaagctct
      181 accccaggtg gagaaaagga gacttcggct acccagagaa gttcagtgcc cagctctact
      241 gagaagaatg ctgtgagtat gaccagcagc gtactctcca gccacagccc cggttcaggc
      301 tcctccacca ctcagggaca ggatgtcact ctggccccgg ccacggaacc agcttcaggt
      361 tcagctgcca cctggggaca ggatgtcacc tcggtcccag tcaccaggcc agccctgggc
      421 tccaccaccc cgccagccca cgatgtcacc tcagccccgg acaacaagcc agccccgggc
      481 tccaccgccc ccccagccca cggtgtcacc tcggccccgg acaccaggcc ggccccgggc
      541 tccaccgccc cccaagccca cggtgtcacc tcggccccgg acaccaggcc ggccccgggc
      601 tccaccgccc ccccagccca cggtgtcacc tcggccccgg acaccaggcc cgccccgggc
      661 tccaccgccc ccccagccca cggtgtcacc tcggccccgg acaccaggcc cgccccgggc
      721 tccaccgcgc ccgcagccca cggtgtcacc tcggccccgg acaccaggcc ggccccgggc
      781 tccaccgccc cccaagccca cggtgtcacc tcggccccgg acaccaggcc ggccccgggc
      841 tccaccgccc ccccagccca cggtgtcacc tcggccccgg acaccaggcc ggccccgggc
      901 tccaccgccc ccccagccca cggtgtcacc tcggccccgg acaccaggcc ggccccgggc
      961 tccaccgccc ccccagccca cggtgtcacc tcggccccgg agagcaggcc ggccccgggc
     1021 tccaccgcgc ccgcagccca cggtgtcacc tcggccccgg agagcaggcc ggccccgggc
     1081 tccaccgcgc ccgcagccca cggtgtcacc tcggccccgg agagcaggcc ggccccgggc
     1141 tccaccgccc ccccagccca cggtgtcacc tcggccccgg acaccaggcc ggccccgggc
     1201 tccaccgccc ccccagccca cggtgtcacc tcggccccgg acaccaggcc ggccccgggc
     1261 tccaccgccc ccccagccca cggtgtcacc tcggccccgg acaccaggcc ggccccgggc
     1321 tccaccgccc ccccagccca cggtgtcacc tcggccccgg acaccaggcc ggccccgggc
     1381 tccaccgccc ccccagccca cggtgtcacc tcggccccgg agagcaggcc ggccccgggc
     1441 tccaccgccc ccccagccca cggtgtcacc tcggccccgg agagcaggcc ggccccgggc
     1501 tccaccgcgc ccgcagccca cggtgtcacc tcggccccgg agagcaggcc ggccccgggc
     1561 tccaccgcgc ccgcagccca cggtgtcacc tcggccccgg agagcaggcc ggccccgggc
     1621 tccaccgccc ccccagccca cggtgtcacc tcggccccgg acaccaggcc ggccccgggc
     1681 tccaccgccc ccccagccca cggtgtcacc tcggccccgg acaccaggcc ggccccgggc
     1741 tccaccgccc ccccagccca cggtgtcacc tcggccccgg acaccaggcc ggccccgggc
     1801 tccaccgccc ccccagccca cggtgtcacc tcggccccgg acaccaggcc ggccccgggc
     1861 tccaccgccc ccccagccca cggtgtcacc tcggccccgg acaccaggcc ggccccgggc
     1921 tccaccgccc ccccagccca cggtgtcacc tcggccccgg acaccaggcc ggccccgggc
     1981 tccaccgccc ccccagccca cggtgtcacc tcggccccgg acaccaggcc ggccccgggc
     2041 tccaccgcgc ccgcagccca cggtgtcacc tcggccccgg agagcaggcc ggccccgggc
     2101 tccaccgcgc ccgcagccca cggtgtcacc tcggccccgg agagcaggcc ggccccgggc
     2161 tccaccgccc ccccagccca cggtgtcacc tcggccccgg acaccaggcc ggccccgggc
     2221 tccaccgccc ccccagccca cggtgtcacc tcggccccgg acaccaggcc ggccccgggc
     2281 tccaccgccc ccccagccca cggtgtcacc tcggccccgg acaccaggcc ggccccgggc
     2341 tccaccgccc ccccagccca cggtgtcacc tcggccccgg acaccaggcc ggccccgggc
     2401 tccaccgccc ccccagccca cggtgtcacc tcggccccgg acaccaggcc ggccccgggc
     2461 tccaccgccc ccccagccca cggtgtcacc tcggccccgg acaccaggcc ggccccgggc
     2521 tccaccgccc ccccagccca cggtgtcacc tcggccccgg acaccaggcc ggccccgggc
     2581 tccaccgccc ccccagccca cggtgtcacc tcggccccgg acaccaggcc ggccccgggc
     2641 tccaccgcac ccccagccca cggtgtcacc tcggccccgg acaccaggcg ggccccgggc
     2701 tccaccccgg ccccgggctc caccgccccc ccagcccacg gtgtcacctc ggccccggac
     2761 accaggccgg ccccgggctc caccgccccc ccagcccatg gtgtcacctc ggccccggac
     2821 aacaggcccg ccttgggctc caccgcccct ccagtccaca atgtcacctc ggcctcaggc
     2881 tctgcatcag gctcagcttc tactctggtg cacaacggca cctctgccag ggctaccaca
     2941 accccagcca gcaagagcac tccattctca attcccagcc accactctga tactcctacc
     3001 acccttgcca gccatagcac caagactgat gccagtagca ctcaccatag cacggtacct
     3061 cctctcacct cctccaatca cagcacttct ccccagttgt ctactggggt ctctttcttt
     3121 ttcctgtctt ttcacatttc aaacctccag tttaattcct ctctggaaga tcccagcacc
     3181 gactactacc aagagctgca gagagacatt tctgaaatgt ttttgcagat ttataaacaa
     3241 gggggttttc tgggcctctc caatattaag ttcaggccag gatctgtggt ggtacaattg
     3301 actctggcct tccgagaagg taccatcaat gtccacgacg tggagacaca gttcaatcag
     3361 tataaaacgg aagcagcctc tcgatataac ctgacgatct cagacgtcag cgtgagtgat
     3421 gtgccatttc ctttctctgc ccagtctggg gctggggtgc caggctgggg catcgcgctg
     3481 ctggtgctgg tctgtgttct ggttgcgctg gccattgtct atctcattgc cttggctgtc
     3541 tgtcagtgcc gccgaaagaa ctacgggcag ctggacatct ttccagcccg ggatacctac
     3601 catcctatga gcgagtaccc cacctaccac acccatgggc gctatgtgcc ccctagcagt
     3661 accgatcgta gcccctatga gaaggtttct gcaggtaatg gtggcagcag cctctcttac
     3721 acaaacccag cagtggcagc cacttctgcc aacttgtagg ggcacgtcgc ccgctgagct
     3781 gagtggccag ccagtgccat tccactccac tcaggttctt cagggccaga gcccctgcac
     3841 cctgtttggg ctggtgagct gggagttcag gtgggctgct cacagcctcc ttcagaggcc
     3901 ccaccaattt ctcggacact tctcagtgtg tggaagctca tgtgggcccc tgagggctca
     3961 tgcctgggaa gtgttgtggt gggggctccc aggaggactg gcccagagag ccctgagata
     4021 gcggggatcc tgaactggac tgaataaaac gtggtctccc actgcgccaa
//
