LOCUS       NM_004393               5537 bp    mRNA    linear   PRI 11-FEB-2008
DEFINITION  Homo sapiens dystroglycan 1 (dystrophin-associated glycoprotein 1)
            (DAG1), mRNA.
ACCESSION   NM_004393
VERSION     NM_004393.2  GI:148539834
KEYWORDS    .
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 5537)
  AUTHORS   Martin,L.T., Glass,M., Dosunmu,E. and Martin,P.T.
  TITLE     Altered expression of natively glycosylated alpha dystroglycan in
            pediatric solid tumors
  JOURNAL   Hum. Pathol. 38 (11), 1657-1668 (2007)
   PUBMED   17640712
  REMARK    GeneRIF: alpha dystroglycan glycosylation & laminin binding to
            alpha dystroglycan are altered in certain pediatric solid tumors
            and suggest that aberrant dystroglycan glycosylation may contribute
            to tumor cell biology in patients with RMS, medulloblastoma, & NBL.
REFERENCE   2  (bases 1 to 5537)
  AUTHORS   Sgambato,A., De Paola,B., Migaldi,M., Di Salvatore,M., Rettino,A.,
            Rossi,G., Faraglia,B., Boninsegna,A., Maiorana,A. and Cittadini,A.
  TITLE     Dystroglycan expression is reduced during prostate tumorigenesis
            and is regulated by androgens in prostate cancer cells
  JOURNAL   J. Cell. Physiol. 213 (2), 528-539 (2007)
   PUBMED   17516554
  REMARK    GeneRIF: Data suggest that disturbances in the function of the
            dystroglycan complex might contribute to the definition of the
            malignant behavior of prostate cancer cells and suggest that
            androgens might regulate DG expression in these cells.
REFERENCE   3  (bases 1 to 5537)
  AUTHORS   Scotton,P., Bleckmann,D., Stebler,M., Sciandra,F., Brancaccio,A.,
            Meier,T., Stetefeld,J. and Ruegg,M.A.
  TITLE     Activation of muscle-specific receptor tyrosine kinase and binding
            to dystroglycan are regulated by alternative mRNA splicing of agrin
  JOURNAL   J. Biol. Chem. 281 (48), 36835-36845 (2006)
   PUBMED   17012237
  REMARK    GeneRIF: muscle-specific receptor tyrosine kinase activation and
            binding to dystroglycan are regulated by alternative mRNA splicing
            of agrin
REFERENCE   4  (bases 1 to 5537)
  AUTHORS   Yamamoto,T., Kawaguchi,M., Sakayori,N., Muramatsu,F., Morikawa,S.,
            Kato,Y., Shibata,N. and Kobayashi,M.
  TITLE     Intracellular binding of fukutin and alpha-dystroglycan: relation
            to glycosylation of alpha-dystroglycan
  JOURNAL   Neurosci. Res. 56 (4), 391-399 (2006)
   PUBMED   17005282
  REMARK    GeneRIF: Fukutin seems to bind to both the hypoglycosylated and
            fully glycosylated form of alpha-dystroglycan, and seems bind to
            the core area rather than the sugar chain of alpha-dystroglycan
REFERENCE   5  (bases 1 to 5537)
  AUTHORS   McDearmon,E.L., Combs,A.C., Sekiguchi,K., Fujiwara,H. and
            Ervasti,J.M.
  TITLE     Brain alpha-dystroglycan displays unique glycoepitopes and
            preferential binding to laminin-10/11
  JOURNAL   FEBS Lett. 580 (14), 3381-3385 (2006)
   PUBMED   16709410
REFERENCE   6  (bases 1 to 5537)
  AUTHORS   Apel,E.D., Roberds,S.L., Campbell,K.P. and Merlie,J.P.
  TITLE     Rapsyn may function as a link between the acetylcholine receptor
            and the agrin-binding dystrophin-associated glycoprotein complex
  JOURNAL   Neuron 15 (1), 115-126 (1995)
   PUBMED   7619516
REFERENCE   7  (bases 1 to 5537)
  AUTHORS   Yang,B., Jung,D., Motto,D., Meyer,J., Koretzky,G. and Campbell,K.P.
  TITLE     SH3 domain-mediated interaction of dystroglycan and Grb2
  JOURNAL   J. Biol. Chem. 270 (20), 11711-11714 (1995)
   PUBMED   7744812
REFERENCE   8  (bases 1 to 5537)
  AUTHORS   Skynner,M.J., Gangadharan,U., Coulton,G.R., Mason,R.M.,
            Nikitopoulou,A., Brown,S.D. and Blanco,G.
  TITLE     Genetic mapping of the mouse neuromuscular mutation kyphoscoliosis
  JOURNAL   Genomics 25 (1), 207-213 (1995)
   PUBMED   7774920
REFERENCE   9  (bases 1 to 5537)
  AUTHORS   Matsumura,K., Tome,F.M., Collin,H., Azibi,K., Chaouch,M.,
            Kaplan,J.C., Fardeau,M. and Campbell,K.P.
  TITLE     Deficiency of the 50K dystrophin-associated glycoprotein in severe
            childhood autosomal recessive muscular dystrophy
  JOURNAL   Nature 359 (6393), 320-322 (1992)
   PUBMED   1406935
REFERENCE   10 (bases 1 to 5537)
  AUTHORS   Ibraghimov-Beskrovnaya,O., Ervasti,J.M., Leveille,C.J.,
            Slaughter,C.A., Sernett,S.W. and Campbell,K.P.
  TITLE     Primary structure of dystrophin-associated glycoproteins linking
            dystrophin to the extracellular matrix
  JOURNAL   Nature 355 (6362), 696-702 (1992)
   PUBMED   1741056
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA851197.1, BC012740.2,
            L19711.1, CX871468.1, BX402174.2, BF476692.1 and AW204012.1.
            On Jun 2, 2007 this sequence version replaced gi:4758115.
            
            Summary: Dystroglycan is a laminin binding component of the
            dystrophin-glycoprotein complex which provides a linkage between
            the subsarcolemmal cytoskeleton and the extracellular matrix.
            Dystroglycan 1 is a candidate gene for the site of the mutation in
            autosomal recessive muscular dystrophies. The dramatic reduction of
            dystroglycan 1 in Duchenne muscular dystrophy leads to a loss of
            linkage between the sarcolemma and extracellular matrix, rendering
            muscle fibers more susceptible to necrosis. Dystroglycan also
            functions as dual receptor for agrin and laminin-2 in the Schwann
            cell membrane. The muscle and nonmuscle isoforms of dystroglycan
            differ by carbohydrate moieties but not protein sequence.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the
            Entrez Gene record to access additional publications.
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-65                DA851197.1         1-65
            66-2673             BC012740.2         1-2608
            2674-2674           L19711.1           2650-2650
            2675-4382           BC012740.2         2610-4317
            4383-4873           CX871468.1         98-588
            4874-5367           BX402174.2         200-693
            5368-5519           BF476692.1         1-152               c
            5520-5537           AW204012.1         1-18                c
FEATURES             Location/Qualifiers
     source          1..5537
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21"
     gene            1..5537
                     /gene="DAG1"
                     /note="dystroglycan 1 (dystrophin-associated glycoprotein
                     1); synonyms: A3a, DAG, AGRNR, 156DAG"
                     /db_xref="GeneID:1605"
                     /db_xref="HGNC:2666"
                     /db_xref="HPRD:HPRD_00546"
                     /db_xref="MIM:128239"
     exon            1..302
                     /gene="DAG1"
                     /inference="alignment:Splign"
                     /number=1
     exon            303..703
                     /gene="DAG1"
                     /inference="alignment:Splign"
                     /number=2
     CDS             419..3106
                     /gene="DAG1"
                     /note="alpha-dystroglycan; dystrophin-associated
                     glycoprotein-1; beta-dystroglycan"
                     /codon_start=1
                     /product="dystroglycan 1 preproprotein"
                     /protein_id="NP_004384.2"
                     /db_xref="GI:148539835"
                     /db_xref="CCDS:CCDS2799.1"
                     /db_xref="GeneID:1605"
                     /db_xref="HGNC:2666"
                     /db_xref="HPRD:HPRD_00546"
                     /db_xref="MIM:128239"
                     /translation="MRMSVGLSLLLPLWGRTFLLLLSVVMAQSHWPSEPSEAVRDWEN
                     QLEASMHSVLSDLHEAVPTVVGIPDGTAVVGRSFRVTIPTDLIASSGDIIKVSAAGKE
                     ALPSWLHWDSQSHTLEGLPLDTDKGVHYISVSATRLGANGSHIPQTSSVFSIEVYPED
                     HSELQSVRTASPDPGEVVSSACAADEPVTVLTVILDADLTKMTPKQRIDLLHRMRSFS
                     EVELHNMKLVPVVNNRLFDMSAFMAGPGNAKKVVENGALLSWKLGCSLNQNSVPDIHG
                     VEAPAREGAMSAQLGYPVVGWHIANKKPPLPKRVRRQIHATPTPVTAIGPPTTAIQEP
                     PSRIVPTPTSPAIAPPTETMAPPVRDPVPGKPTVTIRTRGAIIQTPTLGPIQPTRVSE
                     AGTTVPGQIRPTMTIPGYVEPTAVATPPTTTTKKPRVSTPKPATPSTDSTTTTTRRPT
                     KKPRTPRPVPRVTTKVSITRLETASPPTRIRTTTSGVPRGGEPNQRPELKNHIDRVDA
                     WVGTYFEVKIPSDTFYDHEDTTTDKLKLTLKLREQQLVGEKSWVQFNSNSQLMYGLPD
                     SSHVGKHEYFMHATDKGGLSAVDAFEIHVHRRPQGDRAPARFKAKFVGDPALVLNDIH
                     KKIALVKKLAFAFGDRNCSTITLQNITRGSIVVEWTNNTLPLEPCPKEQIAGLSRRIA
                     EDDGKPRPAFSNALEPDFKATSITVTGSGSCRHLQFIPVVPPRRVPSEAPPTEVPDRD
                     PEKSSEDDVYLHTVIPAVVVAAILLIAGIIAMICYRKKRKGKLTLEDQATFIKKGVPI
                     IFADELDDSKPPPSSSMPLILQEEKAPLPPPEYPNQSVPETTPLNQDTMGEYTPLRDE
                     DPNAPPYQPPPPFTAPMEGKGSRPKNMTPYRSPPPYVPP"
     sig_peptide     419..505
                     /gene="DAG1"
     proprotein      506..3103
                     /gene="DAG1"
                     /product="dystroglycan 1 proprotein"
     mat_peptide     506..2377
                     /gene="DAG1"
                     /product="alpha-dystroglycan"
     mat_peptide     2378..3103
                     /gene="DAG1"
                     /product="beta-dystroglycan"
     exon            704..5522
                     /gene="DAG1"
                     /inference="alignment:Splign"
                     /number=3
     STS             1790..2668
                     /gene="DAG1"
                     /standard_name="PMC28400P1"
                     /db_xref="UniSTS:272410"
     STS             2631..2792
                     /gene="DAG1"
                     /standard_name="GDB:215839"
                     /db_xref="UniSTS:156205"
     STS             3430..3772
                     /gene="DAG1"
                     /standard_name="D3S3337"
                     /db_xref="UniSTS:5975"
     STS             4140..4266
                     /gene="DAG1"
                     /standard_name="Bdy62f05"
                     /db_xref="UniSTS:36695"
     polyA_signal    4348..4353
                     /gene="DAG1"
     polyA_site      4388
                     /gene="DAG1"
     STS             4554..4708
                     /gene="DAG1"
                     /standard_name="G54125"
                     /db_xref="UniSTS:109362"
     polyA_signal    5498..5503
                     /gene="DAG1"
     polyA_site      5522
                     /gene="DAG1"
ORIGIN      
        1 aggcagaagc cggcggcgcg cggacagcca gtcggcgccg cgcggagctg gccgctggat
       61 tggctgcaac actcgcgtgt caggcggttg ctaggctccg gccgcgcgcc ccgcccttgc
      121 gctcagcgcc ctctcaccgc ccggtacgtg ctcgcgcgaa ggctgcggcg cggcgctcgc
      181 gcctcttagg cttggcggtg gcggcggcgg cagcttcgcg ccgaatcccc ggggagcggc
      241 ggtggcggcg tcctggggcc aggaggagcg aacacctgcc gcggtcctcc cgccggcgct
      301 gggctctgtg tgctccggga tggagcaggt gtgcagaggg tgagaaccca gctctgggac
      361 caagtcactt gcttccttac ttagcaagac tatcgacttg agcaaacttg gacctgggat
      421 gaggatgtct gtgggcctct cgctgctgct gcccctctgg gggaggacct ttctcctcct
      481 gctctctgtg gttatggctc agtcccactg gcccagtgaa ccctcagagg ctgtcaggga
      541 ctgggaaaac cagcttgagg catccatgca ctcagtgctc tcagacctcc acgaggctgt
      601 tcccacagtg gttggcattc ctgatggcac ggctgtcgtc gggcgctcat ttcgagtgac
      661 cattccaaca gatttgattg cctccagtgg agatatcatc aaggtatcag cggcagggaa
      721 ggaggctttg ccatcttggc tgcactggga ctcacagagc cacaccctgg agggcctccc
      781 ccttgacact gataagggtg tgcattacat ttcagtgagc gctacacggc tgggggccaa
      841 cgggagccac atcccccaga cctccagtgt gttctccatc gaggtctacc ctgaagacca
      901 cagtgagctg cagtcggtga ggacagcctc cccagaccct ggtgaggtgg tatcatctgc
      961 ctgtgctgcg gatgaacctg tgactgtttt gacggtgatt ttggatgccg acctcaccaa
     1021 gatgacccca aagcaaagga ttgacctcct gcacaggatg cggagcttct cagaagtaga
     1081 gcttcacaac atgaaattag tgccggtggt gaataacaga ctatttgaca tgtcggcctt
     1141 catggctggc ccgggaaatg caaaaaaggt ggtggagaat ggggcccttc tctcctggaa
     1201 gctgggctgc tccctgaacc agaacagtgt gcctgacatt catggtgtag aggcccctgc
     1261 cagggagggc gcaatgtctg ctcagcttgg ctaccctgtg gtgggttggc acatcgccaa
     1321 taagaagccc cctcttccca aacgcgtccg gaggcagatc catgctacac ccacacctgt
     1381 cactgccatt gggcccccaa ccacggctat ccaggagccc ccatccagga tcgtgccaac
     1441 ccccacatct ccagccattg ctcctccaac agagaccatg gctcctccag tcagggatcc
     1501 tgttcctggg aaacccacgg tcaccatccg gactcgaggc gccattattc aaaccccaac
     1561 cctaggcccc atccagccta ctcgggtgtc agaagctggc accacagttc ctggccagat
     1621 tcgcccaacg atgaccattc ctggctatgt ggagcctact gcagttgcta cccctcccac
     1681 aaccaccacc aagaagccac gagtatccac accaaaacca gcaacgcctt caactgactc
     1741 caccaccacc acgactcgca ggccaaccaa gaaaccacgg acaccccggc cagtgccccg
     1801 ggtcaccacc aaagtttcca tcaccagatt ggaaactgcc tcaccgccta ctcgtattcg
     1861 caccaccacc agtggagtgc cccgtggcgg agaacccaac cagcgcccag agctcaagaa
     1921 ccatattgac agggtagatg cctgggttgg cacctacttt gaggtgaaga tcccgtcaga
     1981 cactttctat gaccatgagg acaccaccac tgacaagctg aagctgaccc tgaaactgcg
     2041 ggagcagcag ctggtgggcg agaagtcctg ggtacagttc aacagcaaca gccagctcat
     2101 gtatggcctt cccgacagca gccacgtggg caaacacgag tatttcatgc atgccacaga
     2161 caaggggggc ctgtcggctg tggatgcctt cgagatccac gtccacaggc gcccccaagg
     2221 ggatagggct cctgcaaggt tcaaggccaa gtttgtgggt gacccggcac tggtgttgaa
     2281 tgacatccac aagaagattg ccttggtaaa gaaactggcc ttcgcctttg gagaccgaaa
     2341 ctgtagcacc atcaccctgc agaatatcac ccggggctcc atcgtggtgg aatggaccaa
     2401 caacacactg cccttggagc cctgccccaa ggagcagatc gctgggctga gccgccggat
     2461 cgctgaggat gatggaaaac ctcggcctgc cttctccaac gccctagagc ctgactttaa
     2521 ggccacaagc atcactgtga cgggctctgg cagttgtcgg cacctacagt ttatccctgt
     2581 ggtaccaccc aggagagtgc cctcagaggc gccgcccaca gaagtgcctg acagggaccc
     2641 tgagaagagc agtgaggatg atgtctacct gcacacagtc attccggccg tggtggtcgc
     2701 agccatcctg ctcattgctg gcatcattgc catgatctgc taccgcaaga agcggaaggg
     2761 caagcttacc cttgaggacc aggccacctt catcaagaag ggggtgccta tcatctttgc
     2821 agacgaactg gacgactcca agcccccacc ctcctccagc atgccactca ttctgcagga
     2881 ggagaaggct cccctacccc ctcctgagta ccccaaccag agtgtgcccg agaccactcc
     2941 tctgaaccag gacaccatgg gagagtacac gcccctgcgg gatgaggatc ccaatgcgcc
     3001 tccctaccag cccccaccgc ccttcacagc acccatggag ggcaagggct cccgtcccaa
     3061 gaacatgacc ccataccggt cacctcctcc ctatgtccca ccttaacccg caagcgcctg
     3121 ggtggaggca gggtagggca ggggcctgga gacgacatgg tgttgtctgt ggagaccggt
     3181 ggcctgcaga ccattgccca ccgggagccg acacctgacc tagcacacac tgacacaggg
     3241 gcctggacaa gcccgccctc tctggtcctc ccaaacccca aagcagctgg agagactttg
     3301 gggacttttt tatttttatt ttttgcctaa cagcttttgg tttgttcata gagaattctt
     3361 cgcttcattt ttgatggctg gctctgaaag caccatgtgg agtggaggtg gagggagcga
     3421 ggaaccatga atgaactcgc aggcagtgcc gggcggcccc ctggctctct gcgttttgcc
     3481 tttaacacta actgtactgt tttttctatt cacgtgtgtc tagctgcagg atgtaacatg
     3541 gaaaacagta actaaagatt aaattcaaag gactttcaga agttaaggtt aagtttttac
     3601 gtttaatctg ctgtttacct aaacttgtat gtataatttt tgggtgggta tggggaattg
     3661 ctttgctaaa aataagctcc cagggtgttt caaacttaga gaagaccaag ggacagtatt
     3721 ttttatcaaa ggaatactat tttttcacac tacgtcaact tggttgctct gataccccag
     3781 agcctgattg ggggcctccc ggccctggct cacgccaagt ccctggtgct gggtttgctc
     3841 tcccgctgtt gccaggggct ggaagctgga ggggtctctt gggccatgga catccccact
     3901 tccagcccat gtacactagt ggcccacgac caaggggtct tcatttccat gaaaaaggga
     3961 ctccaagagg cagtggtggc tgtggccccc aactttggtg ctccagggtg ggccagctgc
     4021 ttgtgggggc acctgggagg tcaaaggtct ccaccacatc aacctatttt gttttaccct
     4081 ttttctgtgc attgtttttt tttttcctcc taaaaggaat atcacggttt tttgaaacac
     4141 tcagtggggg acattttggt gaagatgcaa tatttttatg tcatgtgatg ctctttcctc
     4201 acttgacctt ggccgctttg tcctaacagt ccacagtcct gccccgaccc accccatccc
     4261 ttttctctgg cactccagtc ccaggccttg ggcctgaact actggaaaag gtctggcggc
     4321 tggggaggag tgccagcaat agttcataat aaaaatctgt tagctctcaa agctaatttt
     4381 ttactaaagt ttttatacag cctcaaattg ttttattaaa aaaaagattt aaaatggtga
     4441 tgcttacagc agtttgtacg agctcttaag tgttgattcc atggaactga cggctttgct
     4501 tgttttgatt cttttccccc tacttttcct aatggtttaa attctggaat tacactgggg
     4561 ttcttttgcc ttttttagca gaacatccgt ccgtccatct gcatctctgt cccatgactc
     4621 aggggcgccc actctgcttc gattctcctc ctgtggaaga aaccattttg agcatgactt
     4681 ttcttgatgt ctgaagcgtt attttgggta ctttttaggg aggaatgcct ttcgcaataa
     4741 tgtatccatt ccctgattga gggtgggtgg gtggacccag gctccctttg cacacagagc
     4801 agctacttct aagccatatc gactgttttg cagaggattt gtgtgtgctg cctcaggagg
     4861 ggagggctgg taggaggggg ggagaggtct ctgtcctact gctctccaga gggcatttcc
     4921 ccttgcgcct tctcccacag ggcccagccc ctctcccctg ccccagtccc cagggggtac
     4981 tctggagtga gcagtgcccc tgtgggggag cctgtaaatg cgggctcagt ggaccactgg
     5041 tgactgggct catgcctcca agtcagagtt tccctggtgc cccagagaca ggagcacaag
     5101 tgggatctga cctggtgaga ttatttctga tgacctcatc aaaaaataaa caattcccaa
     5161 tgttccaggt gagggctttg aaaggccttc caaacagctc cgtcgcccct agcaactcca
     5221 ccattgggca ctgccatgca gagacgtggc tggcccagaa tggcctgttg ccatagcaac
     5281 tggaggcgat ggggcagtga acagaataac aacagcaaca atgcctttgc aggcagcctg
     5341 ctcccctgag cgctgggctg gtgatggtcg ttggactctg tgagatggag agccaatctc
     5401 acattcaagt gttcaccaac cactgatgtg tttttatttc cttctatatg attttaagat
     5461 gtgttttctg cattctgtaa agaaacatat caaactaaat aaaagcagtg tctttattac
     5521 aaaaaaaaaa aaaaaaa
//

