LOCUS       NM_004393               5387 bp    mRNA    linear   PRI 17-MAR-2024
DEFINITION  Homo sapiens dystroglycan 1 (DAG1), transcript variant 2, mRNA.
ACCESSION   NM_004393
VERSION     NM_004393.6
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 5387)
  AUTHORS   Traverso,M., Baratto,S., Iacomino,M., Di Duca,M., Panicucci,C.,
            Casalini,S., Grandis,M., Falace,A., Torella,A., Picillo,E.,
            Onore,M.E., Politano,L., Nigro,V., Innes,A.M., Barresi,R.,
            Bruno,C., Zara,F., Fiorillo,C. and Scala,M.
  TITLE     DAG1 haploinsufficiency is associated with sporadic and familial
            isolated or pauci-symptomatic hyperCKemia
  JOURNAL   Eur J Hum Genet 32 (3), 342-349 (2024)
   PUBMED   38177406
  REMARK    GeneRIF: DAG1 haploinsufficiency is associated with sporadic and
            familial isolated or pauci-symptomatic hyperCKemia.
REFERENCE   2  (bases 1 to 5387)
  AUTHORS   Shareef,S.H., Amin,K. and Janson,C.
  TITLE     The Association Between beta-Dystroglycan in Airway Smooth Muscle
            and Eosinophils in Allergic Asthma
  JOURNAL   Inflammation 44 (3), 1060-1068 (2021)
   PUBMED   33566255
  REMARK    GeneRIF: The Association Between beta-Dystroglycan in Airway Smooth
            Muscle and Eosinophils in Allergic Asthma.
REFERENCE   3  (bases 1 to 5387)
  AUTHORS   Ortiz-Cordero,C., Magli,A., Dhoke,N.R., Kuebler,T., Selvaraj,S.,
            Oliveira,N.A., Zhou,H., Sham,Y.Y., Bang,A.G. and Perlingeiro,R.C.
  TITLE     NAD+ enhances ribitol and ribose rescue of alpha-dystroglycan
            functional glycosylation in human FKRP-mutant myotubes
  JOURNAL   Elife 10, e65443 (2021)
   PUBMED   33513091
  REMARK    GeneRIF: NAD+ enhances ribitol and ribose rescue of
            alpha-dystroglycan functional glycosylation in human FKRP-mutant
            myotubes.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5387)
  AUTHORS   Gomez-Monsivais,W.L., Monterrubio-Ledezma,F., Huerta-Cantillo,J.,
            Mondragon-Gonzalez,R., Alamillo-Iniesta,A., Garcia-Aguirre,I.,
            Azuara-Medina,P.M., Arguello-Garcia,R., Rivera-Monroy,J.E.,
            Holaska,J.M., Hernandez-Mendez,J.M.E., Garrido,E., Magana,J.J.,
            Winder,S.J., Brancaccio,A., Martinez-Vieyra,I., Navarro-Garcia,F.
            and Cisneros,B.
  TITLE     The Molecular Basis and Biologic Significance of the
            beta-Dystroglycan-Emerin Interaction
  JOURNAL   Int J Mol Sci 21 (17), 5944 (2020)
   PUBMED   32824881
  REMARK    GeneRIF: The Molecular Basis and Biologic Significance of the
            beta-Dystroglycan-Emerin Interaction.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5387)
  AUTHORS   Beltran,D., Anderson,M.E., Bharathy,N., Settelmeyer,T.P.,
            Svalina,M.N., Bajwa,Z., Shern,J.F., Gultekin,S.H., Cuellar,M.A.,
            Yonekawa,T., Keller,C. and Campbell,K.P.
  TITLE     Exogenous expression of the glycosyltransferase LARGE1 restores
            alpha-dystroglycan matriglycan and laminin binding in
            rhabdomyosarcoma
  JOURNAL   Skelet Muscle 9 (1), 11 (2019)
   PUBMED   31054580
  REMARK    GeneRIF: findings demonstrate that a lack of matriglycan on
            alpha-dystroglycan is a common feature in rhabdomyosarcoma due to
            the downregulation of LARGE1, and that ectopic expression of LARGE1
            can restore matriglycan modifications and the ability of
            alpha-dystroglycan to function as an extracellular matrix receptor
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 5387)
  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 5387)
  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 5387)
  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 5387)
  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 5387)
  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 L19711.1, AC104452.2 and
            BM990874.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jul 15, 2019 this sequence version replaced NM_004393.5.
            
            Summary: This gene encodes dystroglycan, a central component of
            dystrophin-glycoprotein complex that links the extracellular matrix
            and the cytoskeleton in the skeletal muscle. The encoded
            preproprotein undergoes O- and N-glycosylation, and proteolytic
            processing to generate alpha and beta subunits. Certain mutations
            in this gene are known to cause distinct forms of muscular
            dystrophy. Alternative splicing results in multiple transcript
            variants, all encoding the same protein. [provided by RefSeq, Nov
            2015].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. All variants encode the same protein.
            
            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##
            Transcript exon combination :: L19711.1, BC012740.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000308775.7/ ENSP00000312435.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-323               L19711.1           112-434
            324-324             AC104452.2         56883-56883         c
            325-771             L19711.1           436-882
            772-4872            AC104452.2         32358-36458         c
            4873-5232           BM990874.1         178-537             c
            5233-5233           AC104452.2         31997-31997         c
            5234-5284           BM990874.1         126-176             c
            5285-5387           BM990874.1         22-124              c
FEATURES             Location/Qualifiers
     source          1..5387
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..5387
                     /gene="DAG1"
                     /gene_synonym="156DAG; A3a; AGRNR; DAG; LGMDR16; MDDGA9;
                     MDDGC7; MDDGC9"
                     /note="dystroglycan 1"
                     /db_xref="GeneID:1605"
                     /db_xref="HGNC:HGNC:2666"
                     /db_xref="MIM:128239"
     exon            1..167
                     /gene="DAG1"
                     /gene_synonym="156DAG; A3a; AGRNR; DAG; LGMDR16; MDDGA9;
                     MDDGC7; MDDGC9"
                     /inference="alignment:Splign:2.1.0"
     exon            168..568
                     /gene="DAG1"
                     /gene_synonym="156DAG; A3a; AGRNR; DAG; LGMDR16; MDDGA9;
                     MDDGC7; MDDGC9"
                     /inference="alignment:Splign:2.1.0"
     CDS             284..2971
                     /gene="DAG1"
                     /gene_synonym="156DAG; A3a; AGRNR; DAG; LGMDR16; MDDGA9;
                     MDDGC7; MDDGC9"
                     /note="dystroglycan 1 (dystrophin-associated glycoprotein
                     1)"
                     /codon_start=1
                     /product="dystroglycan 1 preproprotein"
                     /protein_id="NP_004384.5"
                     /db_xref="CCDS:CCDS2799.1"
                     /db_xref="GeneID:1605"
                     /db_xref="HGNC:HGNC:2666"
                     /db_xref="MIM:128239"
                     /translation="MRMSVGLSLLLPLSGRTFLLLLSVVMAQSHWPSEPSEAVRDWEN
                     QLEASMHSVLSDLHEAVPTVVGIPDGTAVVGRSFRVTIPTDLIASSGDIIKVSAAGKE
                     ALPSWLHWDSQSHTLEGLPLDTDKGVHYISVSATRLGANGSHIPQTSSVFSIEVYPED
                     HSELQSVRTASPDPGEVVSSACAADEPVTVLTVILDADLTKMTPKQRIDLLHRMRSFS
                     EVELHNMKLVPVVNNRLFDMSAFMAGPGNAKKVVENGALLSWKLGCSLNQNSVPDIHG
                     VEAPAREGAMSAQLGYPVVGWHIANKKPPLPKRVRRQIHATPTPVTAIGPPTTAIQEP
                     PSRIVPTPTSPAIAPPTETMAPPVRDPVPGKPTVTIRTRGAIIQTPTLGPIQPTRVSE
                     AGTTVPGQIRPTMTIPGYVEPTAVATPPTTTTKKPRVSTPKPATPSTDSTTTTTRRPT
                     KKPRTPRPVPRVTTKVSITRLETASPPTRIRTTTSGVPRGGEPNQRPELKNHIDRVDA
                     WVGTYFEVKIPSDTFYDHEDTTTDKLKLTLKLREQQLVGEKSWVQFNSNSQLMYGLPD
                     SSHVGKHEYFMHATDKGGLSAVDAFEIHVHRRPQGDRAPARFKAKFVGDPALVLNDIH
                     KKIALVKKLAFAFGDRNCSTITLQNITRGSIVVEWTNNTLPLEPCPKEQIAGLSRRIA
                     EDDGKPRPAFSNALEPDFKATSITVTGSGSCRHLQFIPVVPPRRVPSEAPPTEVPDRD
                     PEKSSEDDVYLHTVIPAVVVAAILLIAGIIAMICYRKKRKGKLTLEDQATFIKKGVPI
                     IFADELDDSKPPPSSSMPLILQEEKAPLPPPEYPNQSVPETTPLNQDTMGEYTPLRDE
                     DPNAPPYQPPPPFTAPMEGKGSRPKNMTPYRSPPPYVPP"
     exon            569..5387
                     /gene="DAG1"
                     /gene_synonym="156DAG; A3a; AGRNR; DAG; LGMDR16; MDDGA9;
                     MDDGC7; MDDGC9"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5363..5368
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DAG1"
                     /gene_synonym="156DAG; A3a; AGRNR; DAG; LGMDR16; MDDGA9;
                     MDDGC7; MDDGC9"
                     /note="hexamer: AATAAA"
     polyA_site      5387
                     /gene="DAG1"
                     /gene_synonym="156DAG; A3a; AGRNR; DAG; LGMDR16; MDDGA9;
                     MDDGC7; MDDGC9"
                     /note="major polyA site"
ORIGIN      
        1 accgcccggt acgtgctcgc gcgaaggctg cggcgcggcg ctcgcgcctc ttaggcttgg
       61 cggtggcggc ggcggcagct tcgcgccgaa tccccgggga gcggcggtgg cggcgtcctg
      121 gggccaggag gagcgaacac ctgccgcggt cctcccgccg gcgctgggct ctgtgtgctc
      181 cgggatggag caggtgtgca gagggtgaga acccagctct gggaccaagt cacttgcttc
      241 cttacttagc aagactatcg acttgagcaa acttggacct gggatgagga tgtctgtggg
      301 cctctcgctg ctgctgcccc tctcggggag gacctttctc ctcctgctct ctgtggttat
      361 ggctcagtcc cactggccca gtgaaccctc agaggctgtc agggactggg aaaaccagct
      421 tgaggcatcc atgcactcag tgctctcaga cctccacgag gctgttccca cagtggttgg
      481 cattcctgat ggcacggctg tcgtcgggcg ctcatttcga gtgaccattc caacagattt
      541 gattgcctcc agtggagata tcatcaaggt atcagcggca gggaaggagg ctttgccatc
      601 ttggctgcac tgggactcac agagccacac cctggagggc ctcccccttg acactgataa
      661 gggtgtgcat tacatttcag tgagcgctac acggctgggg gccaacggga gccacatccc
      721 ccagacctcc agtgtgttct ccatcgaggt ctaccctgaa gaccacagtg agctgcagtc
      781 ggtgaggaca gcctccccag accctggtga ggtggtatca tctgcctgtg ctgcggatga
      841 acctgtgact gttttgacgg tgattttgga tgccgacctc accaagatga ccccaaagca
      901 aaggattgac ctcctgcaca ggatgcggag cttctcagaa gtagagcttc acaacatgaa
      961 attagtgccg gtggtgaata acagactatt tgacatgtcg gccttcatgg ctggcccggg
     1021 aaatgcaaaa aaggtggtgg agaatggggc ccttctctcc tggaagctgg gctgctccct
     1081 gaaccagaac agtgtgcctg acattcatgg tgtagaggcc cctgccaggg agggcgcaat
     1141 gtctgctcag cttggctacc ctgtggtggg ttggcacatc gccaataaga agccccctct
     1201 tcccaaacgc gtccggaggc agatccatgc tacacccaca cctgtcactg ccattgggcc
     1261 cccaaccacg gctatccagg agcccccatc caggatcgtg ccaaccccca catctccagc
     1321 cattgctcct ccaacagaga ccatggctcc tccagtcagg gatcctgttc ctgggaaacc
     1381 cacggtcacc atccggactc gaggcgccat tattcaaacc ccaaccctag gccccatcca
     1441 gcctactcgg gtgtcagaag ctggcaccac agttcctggc cagattcgcc caacgatgac
     1501 cattcctggc tatgtggagc ctactgcagt tgctacccct cccacaacca ccaccaagaa
     1561 gccacgagta tccacaccaa aaccagcaac gccttcaact gactccacca ccaccacgac
     1621 tcgcaggcca accaagaaac cacggacacc ccggccagtg ccccgggtca ccaccaaagt
     1681 ttccatcacc agattggaaa ctgcctcacc gcctactcgt attcgcacca ccaccagtgg
     1741 agtgccccgt ggcggagaac ccaaccagcg cccagagctc aagaaccata ttgacagggt
     1801 agatgcctgg gttggcacct actttgaggt gaagatcccg tcagacactt tctatgacca
     1861 tgaggacacc accactgaca agctgaagct gaccctgaaa ctgcgggagc agcagctggt
     1921 gggcgagaag tcctgggtac agttcaacag caacagccag ctcatgtatg gccttcccga
     1981 cagcagccac gtgggcaaac acgagtattt catgcatgcc acagacaagg ggggcctgtc
     2041 ggctgtggat gccttcgaga tccacgtcca caggcgcccc caaggggata gggctcctgc
     2101 aaggttcaag gccaagtttg tgggtgaccc ggcactggtg ttgaatgaca tccacaagaa
     2161 gattgccttg gtaaagaaac tggccttcgc ctttggagac cgaaactgta gcaccatcac
     2221 cctgcagaat atcacccggg gctccatcgt ggtggaatgg accaacaaca cactgccctt
     2281 ggagccctgc cccaaggagc agatcgctgg gctgagccgc cggatcgctg aggatgatgg
     2341 aaaacctcgg cctgccttct ccaacgccct agagcctgac tttaaggcca caagcatcac
     2401 tgtgacgggc tctggcagtt gtcggcacct acagtttatc cctgtggtac cacccaggag
     2461 agtgccctca gaggcgccgc ccacagaagt gcctgacagg gaccctgaga agagcagtga
     2521 ggatgatgtc tacctgcaca cagtcattcc ggccgtggtg gtcgcagcca tcctgctcat
     2581 tgctggcatc attgccatga tctgctaccg caagaagcgg aagggcaagc ttacccttga
     2641 ggaccaggcc accttcatca agaagggggt gcctatcatc tttgcagacg aactggacga
     2701 ctccaagccc ccaccctcct ccagcatgcc actcattctg caggaggaga aggctcccct
     2761 accccctcct gagtacccca accagagtgt gcccgagacc actcctctga accaggacac
     2821 catgggagag tacacgcccc tgcgggatga ggatcccaat gcgcctccct accagccccc
     2881 accgcccttc acagcaccca tggagggcaa gggctcccgt cccaagaaca tgaccccata
     2941 ccggtcacct cctccctatg tcccacctta acccgcaagc gcctgggtgg aggcagggta
     3001 gggcaggggc ctggagacga catggtgttg tctgtggaga ccggtggcct gcagaccatt
     3061 gcccaccggg agccgacacc tgacctagca cacactgaca caggggcctg gacaagcccg
     3121 ccctctctgg tcctcccaaa ccccaaagca gctggagaga ctttggggac ttttttattt
     3181 ttattttttg cctaacagct tttggtttgt tcatagagaa ttcttcgctt catttttgat
     3241 ggctggctct gaaagcacca tgtggagtgg aggtggaggg agcgaggaac catgaatgaa
     3301 ctcgcaggca gtgccgggcg gccccctggc tctctgcgtt ttgcctttaa cactaactgt
     3361 actgtttttt ctattcacgt gtgtctagct gcaggatgta acatggaaaa cagtaactaa
     3421 agattaaatt caaaggactt tcagaagtta aggttaagtt tttacgttta atctgctgtt
     3481 tacctaaact tgtatgtata atttttgggt gggtatgggg aattgctttg ctaaaaataa
     3541 gctcccaggg tgtttcaaac ttagagaaga ccaagggaca gtatttttta tcaaaggaat
     3601 actatttttt cacactacgt caacttggtt gctctgatac cccagagcct gattgggggc
     3661 ctcccggccc tggctcacgc caagtccctg gtgctgggtt tgctctcccg ctgttgccag
     3721 gggctggaag ctggaggggt ctcttgggcc atggacatcc ccacttccag cccatgtaca
     3781 ctagtggccc acgaccaagg ggtcttcatt tccatgaaaa agggactcca agaggcagtg
     3841 gtggctgtgg cccccaactt tggtgctcca gggtgggcca gctgcttgtg ggggcacctg
     3901 ggaggtcaaa ggtctccacc acatcaacct attttgtttt accctttttc tgtgcattgt
     3961 tttttttttt cctcctaaaa ggaatatcac ggttttttga aacactcagt gggggacatt
     4021 ttggtgaaga tgcaatattt ttatgtcatg tgatgctctt tcctcacttg accttggccg
     4081 ctttgtccta acagtccaca gtcctgcccc gacccacccc atcccttttc tctggcactc
     4141 cagtcccagg ccttgggcct gaactactgg aaaaggtctg gcggctgggg aggagtgcca
     4201 gcaatagttc ataataaaaa tctgttagct ctcaaagcta attttttact aaagttttta
     4261 tacagcctca aattgtttta ttaaaaaaaa gatttaaaat ggtgatgctt acagcagttt
     4321 gtacgagctc ttaagtgttg attccatgga actgacggct ttgcttgttt tgattctttt
     4381 ccccctactt ttcctaatgg tttaaattct ggaattacac tggggttctt ttgccttttt
     4441 tagcagaaca tccgtccgtc catctgcatc tctgtcccat gactcagggg cgcccactct
     4501 gcttcgattc tcctcctgtg gaagaaacca ttttgagcat gacttttctt gatgtctgaa
     4561 gcgttatttt gggtactttt tagggaggaa tgcctttcgc aataatgtat ccattccctg
     4621 attgagggtg ggtgggtgga cccaggctcc ctttgcacac agagcagcta cttctaagcc
     4681 atatcgactg ttttgcagag gatttgtgtg tgctgcctca ggaggggagg gctggtagga
     4741 gggggggaga ggtctctgtc ctactgctct ccagagggca tttccccttg cgccttctcc
     4801 cacagggccc agcccctctc ccctgcccca gtccccaggg ggtactctgg agtgagcagt
     4861 gcccctgtgg gggagcctgt aaatgcgggc tcagtggacc actggtgact gggctcatgc
     4921 ctccaagtca gagtttccct ggtgccccag agacaggagc acaagtggga tctgacctgg
     4981 tgagattatt tctgatgacc tcatcaaaaa ataaacaatt cccaatgttc caggtgaggg
     5041 ctttgaaagg ccttccaaac agctccgtcg cccctagcaa ctccaccatt gggcactgcc
     5101 atgcagagac gtggctggcc cagaatggcc tgttgccata gcaactggag gcgatggggc
     5161 agtgaacaga ataacaacag caacaatgcc tttgcaggca gcctgctccc ctgagcgctg
     5221 ggctggtgat ggtcgttgga ctctgtgaga tggagagcca atctcacatt caagtgttca
     5281 ccaaccactg atgtgttttt atttccttct atatgatttt aagatgtgtt ttctgcattc
     5341 tgtaaagaaa catatcaaac taaataaaag cagtgtcttt attacaa
//
