OpenBio*: dag1.gb

File dag1.gb, 17.9 KB (added by jan.aerts, 11 years ago)

DAG1 gene: genbank formatted file exported from NCBI

Line 
1LOCUS       NM_004393               5537 bp    mRNA    linear   PRI 11-FEB-2008
2DEFINITION  Homo sapiens dystroglycan 1 (dystrophin-associated glycoprotein 1)
3            (DAG1), mRNA.
4ACCESSION   NM_004393
5VERSION     NM_004393.2  GI:148539834
6KEYWORDS    .
7SOURCE      Homo sapiens (human)
8  ORGANISM  Homo sapiens
9            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
10            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
11            Catarrhini; Hominidae; Homo.
12REFERENCE   1  (bases 1 to 5537)
13  AUTHORS   Martin,L.T., Glass,M., Dosunmu,E. and Martin,P.T.
14  TITLE     Altered expression of natively glycosylated alpha dystroglycan in
15            pediatric solid tumors
16  JOURNAL   Hum. Pathol. 38 (11), 1657-1668 (2007)
17   PUBMED   17640712
18  REMARK    GeneRIF: alpha dystroglycan glycosylation & laminin binding to
19            alpha dystroglycan are altered in certain pediatric solid tumors
20            and suggest that aberrant dystroglycan glycosylation may contribute
21            to tumor cell biology in patients with RMS, medulloblastoma, & NBL.
22REFERENCE   2  (bases 1 to 5537)
23  AUTHORS   Sgambato,A., De Paola,B., Migaldi,M., Di Salvatore,M., Rettino,A.,
24            Rossi,G., Faraglia,B., Boninsegna,A., Maiorana,A. and Cittadini,A.
25  TITLE     Dystroglycan expression is reduced during prostate tumorigenesis
26            and is regulated by androgens in prostate cancer cells
27  JOURNAL   J. Cell. Physiol. 213 (2), 528-539 (2007)
28   PUBMED   17516554
29  REMARK    GeneRIF: Data suggest that disturbances in the function of the
30            dystroglycan complex might contribute to the definition of the
31            malignant behavior of prostate cancer cells and suggest that
32            androgens might regulate DG expression in these cells.
33REFERENCE   3  (bases 1 to 5537)
34  AUTHORS   Scotton,P., Bleckmann,D., Stebler,M., Sciandra,F., Brancaccio,A.,
35            Meier,T., Stetefeld,J. and Ruegg,M.A.
36  TITLE     Activation of muscle-specific receptor tyrosine kinase and binding
37            to dystroglycan are regulated by alternative mRNA splicing of agrin
38  JOURNAL   J. Biol. Chem. 281 (48), 36835-36845 (2006)
39   PUBMED   17012237
40  REMARK    GeneRIF: muscle-specific receptor tyrosine kinase activation and
41            binding to dystroglycan are regulated by alternative mRNA splicing
42            of agrin
43REFERENCE   4  (bases 1 to 5537)
44  AUTHORS   Yamamoto,T., Kawaguchi,M., Sakayori,N., Muramatsu,F., Morikawa,S.,
45            Kato,Y., Shibata,N. and Kobayashi,M.
46  TITLE     Intracellular binding of fukutin and alpha-dystroglycan: relation
47            to glycosylation of alpha-dystroglycan
48  JOURNAL   Neurosci. Res. 56 (4), 391-399 (2006)
49   PUBMED   17005282
50  REMARK    GeneRIF: Fukutin seems to bind to both the hypoglycosylated and
51            fully glycosylated form of alpha-dystroglycan, and seems bind to
52            the core area rather than the sugar chain of alpha-dystroglycan
53REFERENCE   5  (bases 1 to 5537)
54  AUTHORS   McDearmon,E.L., Combs,A.C., Sekiguchi,K., Fujiwara,H. and
55            Ervasti,J.M.
56  TITLE     Brain alpha-dystroglycan displays unique glycoepitopes and
57            preferential binding to laminin-10/11
58  JOURNAL   FEBS Lett. 580 (14), 3381-3385 (2006)
59   PUBMED   16709410
60REFERENCE   6  (bases 1 to 5537)
61  AUTHORS   Apel,E.D., Roberds,S.L., Campbell,K.P. and Merlie,J.P.
62  TITLE     Rapsyn may function as a link between the acetylcholine receptor
63            and the agrin-binding dystrophin-associated glycoprotein complex
64  JOURNAL   Neuron 15 (1), 115-126 (1995)
65   PUBMED   7619516
66REFERENCE   7  (bases 1 to 5537)
67  AUTHORS   Yang,B., Jung,D., Motto,D., Meyer,J., Koretzky,G. and Campbell,K.P.
68  TITLE     SH3 domain-mediated interaction of dystroglycan and Grb2
69  JOURNAL   J. Biol. Chem. 270 (20), 11711-11714 (1995)
70   PUBMED   7744812
71REFERENCE   8  (bases 1 to 5537)
72  AUTHORS   Skynner,M.J., Gangadharan,U., Coulton,G.R., Mason,R.M.,
73            Nikitopoulou,A., Brown,S.D. and Blanco,G.
74  TITLE     Genetic mapping of the mouse neuromuscular mutation kyphoscoliosis
75  JOURNAL   Genomics 25 (1), 207-213 (1995)
76   PUBMED   7774920
77REFERENCE   9  (bases 1 to 5537)
78  AUTHORS   Matsumura,K., Tome,F.M., Collin,H., Azibi,K., Chaouch,M.,
79            Kaplan,J.C., Fardeau,M. and Campbell,K.P.
80  TITLE     Deficiency of the 50K dystrophin-associated glycoprotein in severe
81            childhood autosomal recessive muscular dystrophy
82  JOURNAL   Nature 359 (6393), 320-322 (1992)
83   PUBMED   1406935
84REFERENCE   10 (bases 1 to 5537)
85  AUTHORS   Ibraghimov-Beskrovnaya,O., Ervasti,J.M., Leveille,C.J.,
86            Slaughter,C.A., Sernett,S.W. and Campbell,K.P.
87  TITLE     Primary structure of dystrophin-associated glycoproteins linking
88            dystrophin to the extracellular matrix
89  JOURNAL   Nature 355 (6362), 696-702 (1992)
90   PUBMED   1741056
91COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
92            reference sequence was derived from DA851197.1, BC012740.2,
93            L19711.1, CX871468.1, BX402174.2, BF476692.1 and AW204012.1.
94            On Jun 2, 2007 this sequence version replaced gi:4758115.
95           
96            Summary: Dystroglycan is a laminin binding component of the
97            dystrophin-glycoprotein complex which provides a linkage between
98            the subsarcolemmal cytoskeleton and the extracellular matrix.
99            Dystroglycan 1 is a candidate gene for the site of the mutation in
100            autosomal recessive muscular dystrophies. The dramatic reduction of
101            dystroglycan 1 in Duchenne muscular dystrophy leads to a loss of
102            linkage between the sarcolemma and extracellular matrix, rendering
103            muscle fibers more susceptible to necrosis. Dystroglycan also
104            functions as dual receptor for agrin and laminin-2 in the Schwann
105            cell membrane. The muscle and nonmuscle isoforms of dystroglycan
106            differ by carbohydrate moieties but not protein sequence.
107           
108            Publication Note:  This RefSeq record includes a subset of the
109            publications that are available for this gene. Please see the
110            Entrez Gene record to access additional publications.
111            COMPLETENESS: complete on the 3' end.
112PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
113            1-65                DA851197.1         1-65
114            66-2673             BC012740.2         1-2608
115            2674-2674           L19711.1           2650-2650
116            2675-4382           BC012740.2         2610-4317
117            4383-4873           CX871468.1         98-588
118            4874-5367           BX402174.2         200-693
119            5368-5519           BF476692.1         1-152               c
120            5520-5537           AW204012.1         1-18                c
121FEATURES             Location/Qualifiers
122     source          1..5537
123                     /organism="Homo sapiens"
124                     /mol_type="mRNA"
125                     /db_xref="taxon:9606"
126                     /chromosome="3"
127                     /map="3p21"
128     gene            1..5537
129                     /gene="DAG1"
130                     /note="dystroglycan 1 (dystrophin-associated glycoprotein
131                     1); synonyms: A3a, DAG, AGRNR, 156DAG"
132                     /db_xref="GeneID:1605"
133                     /db_xref="HGNC:2666"
134                     /db_xref="HPRD:HPRD_00546"
135                     /db_xref="MIM:128239"
136     exon            1..302
137                     /gene="DAG1"
138                     /inference="alignment:Splign"
139                     /number=1
140     exon            303..703
141                     /gene="DAG1"
142                     /inference="alignment:Splign"
143                     /number=2
144     CDS             419..3106
145                     /gene="DAG1"
146                     /note="alpha-dystroglycan; dystrophin-associated
147                     glycoprotein-1; beta-dystroglycan"
148                     /codon_start=1
149                     /product="dystroglycan 1 preproprotein"
150                     /protein_id="NP_004384.2"
151                     /db_xref="GI:148539835"
152                     /db_xref="CCDS:CCDS2799.1"
153                     /db_xref="GeneID:1605"
154                     /db_xref="HGNC:2666"
155                     /db_xref="HPRD:HPRD_00546"
156                     /db_xref="MIM:128239"
157                     /translation="MRMSVGLSLLLPLWGRTFLLLLSVVMAQSHWPSEPSEAVRDWEN
158                     QLEASMHSVLSDLHEAVPTVVGIPDGTAVVGRSFRVTIPTDLIASSGDIIKVSAAGKE
159                     ALPSWLHWDSQSHTLEGLPLDTDKGVHYISVSATRLGANGSHIPQTSSVFSIEVYPED
160                     HSELQSVRTASPDPGEVVSSACAADEPVTVLTVILDADLTKMTPKQRIDLLHRMRSFS
161                     EVELHNMKLVPVVNNRLFDMSAFMAGPGNAKKVVENGALLSWKLGCSLNQNSVPDIHG
162                     VEAPAREGAMSAQLGYPVVGWHIANKKPPLPKRVRRQIHATPTPVTAIGPPTTAIQEP
163                     PSRIVPTPTSPAIAPPTETMAPPVRDPVPGKPTVTIRTRGAIIQTPTLGPIQPTRVSE
164                     AGTTVPGQIRPTMTIPGYVEPTAVATPPTTTTKKPRVSTPKPATPSTDSTTTTTRRPT
165                     KKPRTPRPVPRVTTKVSITRLETASPPTRIRTTTSGVPRGGEPNQRPELKNHIDRVDA
166                     WVGTYFEVKIPSDTFYDHEDTTTDKLKLTLKLREQQLVGEKSWVQFNSNSQLMYGLPD
167                     SSHVGKHEYFMHATDKGGLSAVDAFEIHVHRRPQGDRAPARFKAKFVGDPALVLNDIH
168                     KKIALVKKLAFAFGDRNCSTITLQNITRGSIVVEWTNNTLPLEPCPKEQIAGLSRRIA
169                     EDDGKPRPAFSNALEPDFKATSITVTGSGSCRHLQFIPVVPPRRVPSEAPPTEVPDRD
170                     PEKSSEDDVYLHTVIPAVVVAAILLIAGIIAMICYRKKRKGKLTLEDQATFIKKGVPI
171                     IFADELDDSKPPPSSSMPLILQEEKAPLPPPEYPNQSVPETTPLNQDTMGEYTPLRDE
172                     DPNAPPYQPPPPFTAPMEGKGSRPKNMTPYRSPPPYVPP"
173     sig_peptide     419..505
174                     /gene="DAG1"
175     proprotein      506..3103
176                     /gene="DAG1"
177                     /product="dystroglycan 1 proprotein"
178     mat_peptide     506..2377
179                     /gene="DAG1"
180                     /product="alpha-dystroglycan"
181     mat_peptide     2378..3103
182                     /gene="DAG1"
183                     /product="beta-dystroglycan"
184     exon            704..5522
185                     /gene="DAG1"
186                     /inference="alignment:Splign"
187                     /number=3
188     STS             1790..2668
189                     /gene="DAG1"
190                     /standard_name="PMC28400P1"
191                     /db_xref="UniSTS:272410"
192     STS             2631..2792
193                     /gene="DAG1"
194                     /standard_name="GDB:215839"
195                     /db_xref="UniSTS:156205"
196     STS             3430..3772
197                     /gene="DAG1"
198                     /standard_name="D3S3337"
199                     /db_xref="UniSTS:5975"
200     STS             4140..4266
201                     /gene="DAG1"
202                     /standard_name="Bdy62f05"
203                     /db_xref="UniSTS:36695"
204     polyA_signal    4348..4353
205                     /gene="DAG1"
206     polyA_site      4388
207                     /gene="DAG1"
208     STS             4554..4708
209                     /gene="DAG1"
210                     /standard_name="G54125"
211                     /db_xref="UniSTS:109362"
212     polyA_signal    5498..5503
213                     /gene="DAG1"
214     polyA_site      5522
215                     /gene="DAG1"
216ORIGIN     
217        1 aggcagaagc cggcggcgcg cggacagcca gtcggcgccg cgcggagctg gccgctggat
218       61 tggctgcaac actcgcgtgt caggcggttg ctaggctccg gccgcgcgcc ccgcccttgc
219      121 gctcagcgcc ctctcaccgc ccggtacgtg ctcgcgcgaa ggctgcggcg cggcgctcgc
220      181 gcctcttagg cttggcggtg gcggcggcgg cagcttcgcg ccgaatcccc ggggagcggc
221      241 ggtggcggcg tcctggggcc aggaggagcg aacacctgcc gcggtcctcc cgccggcgct
222      301 gggctctgtg tgctccggga tggagcaggt gtgcagaggg tgagaaccca gctctgggac
223      361 caagtcactt gcttccttac ttagcaagac tatcgacttg agcaaacttg gacctgggat
224      421 gaggatgtct gtgggcctct cgctgctgct gcccctctgg gggaggacct ttctcctcct
225      481 gctctctgtg gttatggctc agtcccactg gcccagtgaa ccctcagagg ctgtcaggga
226      541 ctgggaaaac cagcttgagg catccatgca ctcagtgctc tcagacctcc acgaggctgt
227      601 tcccacagtg gttggcattc ctgatggcac ggctgtcgtc gggcgctcat ttcgagtgac
228      661 cattccaaca gatttgattg cctccagtgg agatatcatc aaggtatcag cggcagggaa
229      721 ggaggctttg ccatcttggc tgcactggga ctcacagagc cacaccctgg agggcctccc
230      781 ccttgacact gataagggtg tgcattacat ttcagtgagc gctacacggc tgggggccaa
231      841 cgggagccac atcccccaga cctccagtgt gttctccatc gaggtctacc ctgaagacca
232      901 cagtgagctg cagtcggtga ggacagcctc cccagaccct ggtgaggtgg tatcatctgc
233      961 ctgtgctgcg gatgaacctg tgactgtttt gacggtgatt ttggatgccg acctcaccaa
234     1021 gatgacccca aagcaaagga ttgacctcct gcacaggatg cggagcttct cagaagtaga
235     1081 gcttcacaac atgaaattag tgccggtggt gaataacaga ctatttgaca tgtcggcctt
236     1141 catggctggc ccgggaaatg caaaaaaggt ggtggagaat ggggcccttc tctcctggaa
237     1201 gctgggctgc tccctgaacc agaacagtgt gcctgacatt catggtgtag aggcccctgc
238     1261 cagggagggc gcaatgtctg ctcagcttgg ctaccctgtg gtgggttggc acatcgccaa
239     1321 taagaagccc cctcttccca aacgcgtccg gaggcagatc catgctacac ccacacctgt
240     1381 cactgccatt gggcccccaa ccacggctat ccaggagccc ccatccagga tcgtgccaac
241     1441 ccccacatct ccagccattg ctcctccaac agagaccatg gctcctccag tcagggatcc
242     1501 tgttcctggg aaacccacgg tcaccatccg gactcgaggc gccattattc aaaccccaac
243     1561 cctaggcccc atccagccta ctcgggtgtc agaagctggc accacagttc ctggccagat
244     1621 tcgcccaacg atgaccattc ctggctatgt ggagcctact gcagttgcta cccctcccac
245     1681 aaccaccacc aagaagccac gagtatccac accaaaacca gcaacgcctt caactgactc
246     1741 caccaccacc acgactcgca ggccaaccaa gaaaccacgg acaccccggc cagtgccccg
247     1801 ggtcaccacc aaagtttcca tcaccagatt ggaaactgcc tcaccgccta ctcgtattcg
248     1861 caccaccacc agtggagtgc cccgtggcgg agaacccaac cagcgcccag agctcaagaa
249     1921 ccatattgac agggtagatg cctgggttgg cacctacttt gaggtgaaga tcccgtcaga
250     1981 cactttctat gaccatgagg acaccaccac tgacaagctg aagctgaccc tgaaactgcg
251     2041 ggagcagcag ctggtgggcg agaagtcctg ggtacagttc aacagcaaca gccagctcat
252     2101 gtatggcctt cccgacagca gccacgtggg caaacacgag tatttcatgc atgccacaga
253     2161 caaggggggc ctgtcggctg tggatgcctt cgagatccac gtccacaggc gcccccaagg
254     2221 ggatagggct cctgcaaggt tcaaggccaa gtttgtgggt gacccggcac tggtgttgaa
255     2281 tgacatccac aagaagattg ccttggtaaa gaaactggcc ttcgcctttg gagaccgaaa
256     2341 ctgtagcacc atcaccctgc agaatatcac ccggggctcc atcgtggtgg aatggaccaa
257     2401 caacacactg cccttggagc cctgccccaa ggagcagatc gctgggctga gccgccggat
258     2461 cgctgaggat gatggaaaac ctcggcctgc cttctccaac gccctagagc ctgactttaa
259     2521 ggccacaagc atcactgtga cgggctctgg cagttgtcgg cacctacagt ttatccctgt
260     2581 ggtaccaccc aggagagtgc cctcagaggc gccgcccaca gaagtgcctg acagggaccc
261     2641 tgagaagagc agtgaggatg atgtctacct gcacacagtc attccggccg tggtggtcgc
262     2701 agccatcctg ctcattgctg gcatcattgc catgatctgc taccgcaaga agcggaaggg
263     2761 caagcttacc cttgaggacc aggccacctt catcaagaag ggggtgccta tcatctttgc
264     2821 agacgaactg gacgactcca agcccccacc ctcctccagc atgccactca ttctgcagga
265     2881 ggagaaggct cccctacccc ctcctgagta ccccaaccag agtgtgcccg agaccactcc
266     2941 tctgaaccag gacaccatgg gagagtacac gcccctgcgg gatgaggatc ccaatgcgcc
267     3001 tccctaccag cccccaccgc ccttcacagc acccatggag ggcaagggct cccgtcccaa
268     3061 gaacatgacc ccataccggt cacctcctcc ctatgtccca ccttaacccg caagcgcctg
269     3121 ggtggaggca gggtagggca ggggcctgga gacgacatgg tgttgtctgt ggagaccggt
270     3181 ggcctgcaga ccattgccca ccgggagccg acacctgacc tagcacacac tgacacaggg
271     3241 gcctggacaa gcccgccctc tctggtcctc ccaaacccca aagcagctgg agagactttg
272     3301 gggacttttt tatttttatt ttttgcctaa cagcttttgg tttgttcata gagaattctt
273     3361 cgcttcattt ttgatggctg gctctgaaag caccatgtgg agtggaggtg gagggagcga
274     3421 ggaaccatga atgaactcgc aggcagtgcc gggcggcccc ctggctctct gcgttttgcc
275     3481 tttaacacta actgtactgt tttttctatt cacgtgtgtc tagctgcagg atgtaacatg
276     3541 gaaaacagta actaaagatt aaattcaaag gactttcaga agttaaggtt aagtttttac
277     3601 gtttaatctg ctgtttacct aaacttgtat gtataatttt tgggtgggta tggggaattg
278     3661 ctttgctaaa aataagctcc cagggtgttt caaacttaga gaagaccaag ggacagtatt
279     3721 ttttatcaaa ggaatactat tttttcacac tacgtcaact tggttgctct gataccccag
280     3781 agcctgattg ggggcctccc ggccctggct cacgccaagt ccctggtgct gggtttgctc
281     3841 tcccgctgtt gccaggggct ggaagctgga ggggtctctt gggccatgga catccccact
282     3901 tccagcccat gtacactagt ggcccacgac caaggggtct tcatttccat gaaaaaggga
283     3961 ctccaagagg cagtggtggc tgtggccccc aactttggtg ctccagggtg ggccagctgc
284     4021 ttgtgggggc acctgggagg tcaaaggtct ccaccacatc aacctatttt gttttaccct
285     4081 ttttctgtgc attgtttttt tttttcctcc taaaaggaat atcacggttt tttgaaacac
286     4141 tcagtggggg acattttggt gaagatgcaa tatttttatg tcatgtgatg ctctttcctc
287     4201 acttgacctt ggccgctttg tcctaacagt ccacagtcct gccccgaccc accccatccc
288     4261 ttttctctgg cactccagtc ccaggccttg ggcctgaact actggaaaag gtctggcggc
289     4321 tggggaggag tgccagcaat agttcataat aaaaatctgt tagctctcaa agctaatttt
290     4381 ttactaaagt ttttatacag cctcaaattg ttttattaaa aaaaagattt aaaatggtga
291     4441 tgcttacagc agtttgtacg agctcttaag tgttgattcc atggaactga cggctttgct
292     4501 tgttttgatt cttttccccc tacttttcct aatggtttaa attctggaat tacactgggg
293     4561 ttcttttgcc ttttttagca gaacatccgt ccgtccatct gcatctctgt cccatgactc
294     4621 aggggcgccc actctgcttc gattctcctc ctgtggaaga aaccattttg agcatgactt
295     4681 ttcttgatgt ctgaagcgtt attttgggta ctttttaggg aggaatgcct ttcgcaataa
296     4741 tgtatccatt ccctgattga gggtgggtgg gtggacccag gctccctttg cacacagagc
297     4801 agctacttct aagccatatc gactgttttg cagaggattt gtgtgtgctg cctcaggagg
298     4861 ggagggctgg taggaggggg ggagaggtct ctgtcctact gctctccaga gggcatttcc
299     4921 ccttgcgcct tctcccacag ggcccagccc ctctcccctg ccccagtccc cagggggtac
300     4981 tctggagtga gcagtgcccc tgtgggggag cctgtaaatg cgggctcagt ggaccactgg
301     5041 tgactgggct catgcctcca agtcagagtt tccctggtgc cccagagaca ggagcacaag
302     5101 tgggatctga cctggtgaga ttatttctga tgacctcatc aaaaaataaa caattcccaa
303     5161 tgttccaggt gagggctttg aaaggccttc caaacagctc cgtcgcccct agcaactcca
304     5221 ccattgggca ctgccatgca gagacgtggc tggcccagaa tggcctgttg ccatagcaac
305     5281 tggaggcgat ggggcagtga acagaataac aacagcaaca atgcctttgc aggcagcctg
306     5341 ctcccctgag cgctgggctg gtgatggtcg ttggactctg tgagatggag agccaatctc
307     5401 acattcaagt gttcaccaac cactgatgtg tttttatttc cttctatatg attttaagat
308     5461 gtgttttctg cattctgtaa agaaacatat caaactaaat aaaagcagtg tctttattac
309     5521 aaaaaaaaaa aaaaaaa
310//
311