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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
DMD 1756 Dystrophin (muscular dystrophy, Duchenne and Becker types)  XBMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272 







  • Evidence
  • Gene
  • mRNA
  • CDS
  • Protein
  • PTM
  • Enzyme
  • PPi
  • Pathway
  • Structural
  • Domain
  • Ontology
  • SNP
  • Drug
  • External Links



Evidence Information


Pubmed ID Year Sample Information Techniques Mechanism Fold Change Remark
17848589   2007Cell line : -

Source : Tumor Bank Network established at the Centro Nacional de Investigaciones Oncologicas (CNIO).

Sample Type : -

No. of Sample : -

Stage : -

Antibody Microarrays,Protein Labeling and Microarray Assay,Tissue Microarray Design and ImmunohistocUp-regulation1.645-


Gene Details



Chromosome: X; NC_000023.10 (31137345..33357726, complement)

View Larger Image
   
Gene Type protein coding
Gene Family -
Description The dystrophin gene is the largest gene found in nature, measuring 2.4 Mb. The gene was identified through a positional cloning approach, targeted at the isolation of the gene responsible for Duchenne (DMD) and Becker (BMD) Muscular Dystrophies. DMD is a recessive, fatal, X-linked disorder occurring at a frequency of about 1 in 3,500 new-born males. BMD is a milder allelic form. In general, DMD patients carry mutations which cause premature translation termination (nonsense or frame shift mutations), while in BMD patients dystrophin is reduced either in molecular weight (derived from in-frame deletions) or in expression level. The dystrophin gene is highly complex, containing at least eight independent, tissue-specific promoters and two polyA-addition sites. Furthermore, dystrophin RNA is differentially spliced, producing a range of different transcripts, encoding a large set of protein isoforms. Dystrophin (as encoded by the Dp427 transcripts) is a large, rod-like cytoskeletal protein which is found at the inner surface of muscle fibers. Dystrophin is part of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton (F-actin) and the extra-cellular matrix. [provided by RefSeq, Jul 2008]  
Chromosome X
Location Xp21.2
Start 31119219  
End 33339609  
Strand -  
Gene Sequence

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Length 2220391  
OMIM ID 300377   
HGNC ID HGNC:2928   
Unigene ID Hs.495912    
Ensembl ID ENSG00000198947   
PharmGKB ID -   

mRNA Information


mRNA ID XM_006724469.2
Exon join(242..351,319410..319471,489790..489882, 494750..494827,516223..516315,522970..523142, 529999..530117,640317..640498,641612..641740, 694458..694646,695297..695478,725157..725307, 743734..743853,765764..765865,765973..766080, 773729..773908,794276..794451,821479..821602, 837768..837855,848092..848333,854511..854691, 867301..867446,870900..871112,874911..875024, 876016..876171,884778..884948,890972..891154, 898296..898430,901220..901369,927697..927858, 949429..949539,949936..950109,953145..953300, 958930..959100,974411..974590,974900..975028, 976652..976822,991082..991204,993530..993667, 996324..996476,997328..997510,1029334..1029528, 1051909..1052081,1122547..1122694,1371096..1371271,  
mRNA Sequence

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Length 14069  



CDS Information


   
Location join(345..351,319410..319471,489790..489882, 494750..494827,516223..516315,522970..523142, 529999..530117,640317..640498,641612..641740, 694458..694646,695297..695478,725157..725307, 743734..743853,765764..765865,765973..766080, 773729..773908,794276..794451,821479..821602, 837768..837855,848092..848333,854511..854691, 867301..867446,870900..871112,8
CDS Sequence

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CCDS ID -



Protein Information


      
Protein IDNP_000100.2
Protein NameDystrophin (muscular dystrophy, Duchenne and Becker types)
Molecular Wt. (Da)425453
Protein Sequence

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Length 3677  
Uniprot IDP38606
Ensembl Protein ID ENSP00000273398  



Post-translational Modification Information (Source : HPRD)


Residue Type site
SPhosphorylation3425;-
SPhosphorylation357;-
SPhosphorylation357;-
SPhosphorylation965;-
SPhosphorylation3417;-
SPhosphorylation3302;-
SPhosphorylation3421;-
SPhosphorylation3302;-
SPhosphorylation2084;-
SPhosphorylation2081;-
SPhosphorylation965;-
SPhosphorylation696;-
TPhosphorylation352;-
TPhosphorylation352;-
TPhosphorylation960;-
TPhosphorylation331
SPhosphorylation344
TPhosphorylation331
SPhosphorylation344
TPhosphorylation939
SPhosphorylation952
TPhosphorylation340
SPhosphorylation348
TPhosphorylation340
SPhosphorylation348
TPhosphorylation948
SPhosphorylation956
SPhosphorylation343
SPhosphorylation343
SPhosphorylation951
SPhosphorylation354
SPhosphorylation354
SPhosphorylation962
SPhosphorylation3483
SPhosphorylation415
SPhosphorylation415
SPhosphorylation402
SPhosphorylation402
SPhosphorylation1023
SPhosphorylation1010
SPhosphorylation3475
SPhosphorylation3360
SPhosphorylation3479
SPhosphorylation3360
SPhosphorylation2142
SPhosphorylation2139
SPhosphorylation1023
SPhosphorylation754
TPhosphorylation3548
TPhosphorylation480
TPhosphorylation480
TPhosphorylation467
TPhosphorylation467
TPhosphorylation1088
TPhosphorylation968
TPhosphorylation1075
TPhosphorylation978
TPhosphorylation3540
TPhosphorylation3425
TPhosphorylation3544
TPhosphorylation3425
TPhosphorylation2207
TPhosphorylation2204
TPhosphorylation1088
TPhosphorylation819
SPhosphorylation3613
SPhosphorylation3617
SPhosphorylation545
SPhosphorylation549
SPhosphorylation545
SPhosphorylation549
SPhosphorylation532
SPhosphorylation536
SPhosphorylation532
SPhosphorylation536
SPhosphorylation1153
SPhosphorylation1157
SPhosphorylation1033
SPhosphorylation1037
SPhosphorylation1140
SPhosphorylation1144
SPhosphorylation1043
SPhosphorylation1047
SPhosphorylation3605
SPhosphorylation3609
SPhosphorylation3490
SPhosphorylation3494
SPhosphorylation3609
SPhosphorylation3613
SPhosphorylation3490
SPhosphorylation3494
SPhosphorylation2272
SPhosphorylation2276
SPhosphorylation2269
SPhosphorylation2273
SPhosphorylation1153
SPhosphorylation1157
SPhosphorylation884
SPhosphorylation888
SPhosphorylation3615
SPhosphorylation547
SPhosphorylation547
SPhosphorylation534
SPhosphorylation534
SPhosphorylation1155
SPhosphorylation1035
SPhosphorylation1142
SPhosphorylation1045
SPhosphorylation3607
SPhosphorylation3492
SPhosphorylation3611
SPhosphorylation3492
SPhosphorylation2274
SPhosphorylation2271
SPhosphorylation1155
SPhosphorylation886
SPhosphorylation3621
SPhosphorylation553
SPhosphorylation553
SPhosphorylation540
SPhosphorylation540
SPhosphorylation1161
SPhosphorylation1041
SPhosphorylation1148
SPhosphorylation1051
SPhosphorylation3613
SPhosphorylation3498
SPhosphorylation3617
SPhosphorylation3498
SPhosphorylation2280
SPhosphorylation2277
SPhosphorylation1161
SPhosphorylation892
SPhosphorylation3623
SPhosphorylation555
SPhosphorylation555
SPhosphorylation542
SPhosphorylation542
SPhosphorylation1163
SPhosphorylation1043
SPhosphorylation1150
SPhosphorylation1053
SPhosphorylation3615
SPhosphorylation3500
SPhosphorylation3619
SPhosphorylation3500
SPhosphorylation2282
SPhosphorylation2279
SPhosphorylation1163
SPhosphorylation894
TPhosphorylation3652
SPhosphorylation3666
TPhosphorylation584
SPhosphorylation598
TPhosphorylation584
SPhosphorylation598
TPhosphorylation571
SPhosphorylation585
TPhosphorylation571
SPhosphorylation585
TPhosphorylation1192
SPhosphorylation1206
TPhosphorylation1072
SPhosphorylation1086
TPhosphorylation1179
SPhosphorylation1193
TPhosphorylation1082
SPhosphorylation1096
TPhosphorylation3644
SPhosphorylation3658
TPhosphorylation3529
SPhosphorylation3543
TPhosphorylation3648
SPhosphorylation3662
TPhosphorylation3529
SPhosphorylation3543
TPhosphorylation2311
SPhosphorylation2325
TPhosphorylation2308
SPhosphorylation2322
TPhosphorylation1192
SPhosphorylation1206
TPhosphorylation923
SPhosphorylation937
TPhosphorylation3616
TPhosphorylation548
TPhosphorylation548
TPhosphorylation535
TPhosphorylation535
TPhosphorylation1156
TPhosphorylation1036
TPhosphorylation1143
TPhosphorylation1046
TPhosphorylation3608
TPhosphorylation3493
TPhosphorylation3612
TPhosphorylation3493
TPhosphorylation2275
TPhosphorylation2272
TPhosphorylation1156
TPhosphorylation887
TPhosphorylation672
TPhosphorylation679
TPhosphorylation664
TPhosphorylation671
TPhosphorylation549
TPhosphorylation556
TPhosphorylation668
TPhosphorylation675
TPhosphorylation549
TPhosphorylation556
SPhosphorylation2669
SPhosphorylation209
SPhosphorylation209
SPhosphorylation209
SPhosphorylation209
SPhosphorylation2661
SPhosphorylation2546
SPhosphorylation2665
SPhosphorylation2546
SPhosphorylation1328
SPhosphorylation1325
SPhosphorylation209
SPhosphorylation2672
SPhosphorylation212
SPhosphorylation212
SPhosphorylation212
SPhosphorylation212
SPhosphorylation2664
SPhosphorylation2549
SPhosphorylation2668
SPhosphorylation2549
SPhosphorylation1331
SPhosphorylation1328
SPhosphorylation212
SPhosphorylation3291
SPhosphorylation223
SPhosphorylation223
SPhosphorylation223
SPhosphorylation223
SPhosphorylation223
SPhosphorylation831
SPhosphorylation831
SPhosphorylation831
SPhosphorylation831
SPhosphorylation3283
SPhosphorylation3168
SPhosphorylation3287
SPhosphorylation3168
SPhosphorylation1950
SPhosphorylation1947
SPhosphorylation831
SPhosphorylation562
SPhosphorylation3429
SPhosphorylation361
SPhosphorylation361
SPhosphorylation969
SPhosphorylation3421
SPhosphorylation3306
SPhosphorylation3425
SPhosphorylation3306
SPhosphorylation2088
SPhosphorylation2085
SPhosphorylation969
SPhosphorylation700
SPhosphorylation3537
SPhosphorylation3541
SPhosphorylation469
SPhosphorylation473
SPhosphorylation469
SPhosphorylation473
SPhosphorylation456
SPhosphorylation460
SPhosphorylation456
SPhosphorylation460
SPhosphorylation1077
SPhosphorylation1081
SPhosphorylation957
SPhosphorylation961
SPhosphorylation1064
SPhosphorylation1068
SPhosphorylation967
SPhosphorylation971
SPhosphorylation3529
SPhosphorylation3533
SPhosphorylation3414
SPhosphorylation3418
SPhosphorylation3533
SPhosphorylation3537
SPhosphorylation3414
SPhosphorylation3418
SPhosphorylation2196
SPhosphorylation2200
SPhosphorylation2193
SPhosphorylation2197
SPhosphorylation1077
SPhosphorylation1081
SPhosphorylation808
SPhosphorylation812
SPhosphorylation3612
SPhosphorylation544
SPhosphorylation544
SPhosphorylation531
SPhosphorylation531
SPhosphorylation1152
SPhosphorylation1032
SPhosphorylation1139
SPhosphorylation1042
SPhosphorylation3604
SPhosphorylation3489
SPhosphorylation3608
SPhosphorylation3489
SPhosphorylation2271
SPhosphorylation2268
SPhosphorylation1152
SPhosphorylation883
SPhosphorylation3624
SPhosphorylation556
SPhosphorylation556
SPhosphorylation543
SPhosphorylation543
SPhosphorylation1164
SPhosphorylation1044
SPhosphorylation1151
SPhosphorylation1054
SPhosphorylation3616
SPhosphorylation3501
SPhosphorylation3620
SPhosphorylation3501
SPhosphorylation2283
SPhosphorylation2280
SPhosphorylation1164
SPhosphorylation895
TPhosphorylation629
TPhosphorylation616
TPhosphorylation1237
TPhosphorylation1224
TPhosphorylation1127
TPhosphorylation1647
TPhosphorylation1639
TPhosphorylation1524
TPhosphorylation1643
TPhosphorylation1524
TPhosphorylation306
TPhosphorylation303
YPhosphorylation3394
SPhosphorylation3420
YPhosphorylation326
SPhosphorylation352
YPhosphorylation326
SPhosphorylation352
YPhosphorylation934
SPhosphorylation960
YPhosphorylation3386
SPhosphorylation3412
YPhosphorylation3271
SPhosphorylation3297
YPhosphorylation3390
SPhosphorylation3416
YPhosphorylation3271
SPhosphorylation3297
YPhosphorylation2053
SPhosphorylation2079
YPhosphorylation2050
SPhosphorylation2076
YPhosphorylation934
SPhosphorylation960
YPhosphorylation665
SPhosphorylation691

Enzyme Information


   
EC1.5.8.1
Namedimethylamine dehydrogenase
ClassOxidoreductases; Acting on the CH-NH group of donors; With a flavin or flavoprotein as acceptor
Sysnamedimethylamine:electron-transfer flavoprotein oxidoreductase  
Substratedimethylamine [CPD:C00543]; H2O [CPD:C00001]; electron-transfer flavoprotein  
Productmethylamine [CPD:C00218]; formaldehyde [CPD:C00067]; reduced electron-transfer flavoprotein  
Reaction (IUBMB)



PPi Information


(Click to view network : Source STRING)      View   

                                                                                                                        
Interactant Gene ID (Source: HPRD) Gene Symbol HPRD ID Ref Seq ID Technique References
58ACTA130NP_001091.1in vitro;in vivo154   442   111   259   305   
70ACTC115NP_005150.1in vivo11997265   
356FASLG610NP_000630.1in vivo11741599   
1605DAG1546NP_004384.3in vitro1   035   562   910   932   240   
3856KRT81015NP_002264.1in vitro;in vivo16000376   
3880KRT191007NP_002267.2in vitro;in vivo16000376   
6640SNTA13009NP_003089.1in vitro;in vivo789   060   211   571   312   
7402UTRN547NP_009055.2in vitro10767429   


Pathway Information


                        
Pathway Name Pathway ID
Arrhythmogenic right ventricular cardiomyopathy (ARVC) hsa05412
Dilated cardiomyopathy hsa05414
Hypertrophic cardiomyopathy (HCM) hsa05410
Viral myocarditis hsa05416


Structure Information


PDB ID1DXX
Resolution2.6
MethodX-RAY DIFFRACTION
Chains A,B,C  
Molecule DYSTROPHIN  
Model View



Domain Information




ID Location Description
cd023343311-3359  ZZ_dystrophin
cl002953311-3359  ZZ superfamily
cd00176341-558  SPEC
cl02488341-558  SPEC superfamily
cd001762105-2320  SPEC
cl024882105-2320  SPEC superfamily
cd00014135-240  CH
cl00030135-240  CH superfamily
cd0001416-119  CH
cl0003016-119  CH superfamily
cd001762690-2933  SPEC
cl024882690-2933  SPEC superfamily
cd001762472-2688  SPEC
cl024882472-2688  SPEC superfamily
cd001761049-1263  SPEC
cl024881049-1263  SPEC superfamily
cd00176727-933  SPEC
cl02488727-933  SPEC superfamily
cd00176943-1152  SPEC
cl02488943-1152  SPEC superfamily
cd001762935-3045  SPEC
cl024882935-3045  SPEC superfamily
cd001761162-1369  SPEC
cl024881162-1369  SPEC superfamily
cd001761780-1968  SPEC
cl024881780-1968  SPEC superfamily
cd001761268-1474  SPEC
cl024881268-1474  SPEC superfamily
cd002013059-3088  WW
cl001573059-3088  WW superfamily
pfam090683087-3207  EF-hand_2
cl200883087-3207  EF-hand_2 superfamily
pfam090693211-3302  EF-hand_3
cl076213211-3302  EF-hand_3 superfamily
pfam00307137-240  CH
smart0003319-117  CH
smart00033138-235  CH
pfam005693307-3352  ZZ
pfam0030718-119  CH
cd00176454-660  SPEC
smart002913308-3351  ZnF_ZZ
cd001762584-2803  SPEC
cd001762011-2208  SPEC
cd001762806-3042  SPEC
pfam004351048-1152  Spectrin
pfam004352934-3040  Spectrin
smart001502107-2207  SPEC
pfam00435449-556  Spectrin
pfam00435340-447  Spectrin
smart00150343-445  SPEC
smart001502475-2576  SPEC
pfam004352104-2208  Spectrin
smart00150454-555  SPEC
pfam004352570-2686  Spectrin
smart001502937-3038  SPEC
pfam004351162-1263  Spectrin
pfam004352213-2318  Spectrin
smart001502692-2801  SPEC
pfam004351877-1979  Spectrin
cd001761467-1676  SPEC
cl024881467-1676  SPEC superfamily
smart004563056-3088  WW
cd001762321-2579  SPEC
cl024882321-2579  SPEC superfamily
pfam004351679-1776  Spectrin
cl024881679-1776  SPEC superfamily
pfam004351571-1676  Spectrin
cd022493313-3359  ZZ
cd001761615-1772  SPEC
pfam003973059-3086  WW
smart001501060-1153  SPEC
pfam11971143-219  CAMSAP_CH
cd001761878-2102  SPEC
cl024881878-2102  SPEC superfamily
smart00150727-827  SPEC
cd023383313-3356  ZZ_PCMF_like
smart001501880-1962  SPEC
smart001502215-2317  SPEC
cd00176835-1047  SPEC
cl02488835-1047  SPEC superfamily
pfam004352475-2577  Spectrin
pfam004352689-2791  Spectrin
smart001501269-1366  SPEC
smart001501496-1567  SPEC
smart001502573-2685  SPEC
pfam00435830-933  Spectrin
smart001501162-1262  SPEC
cd023393313-3359  ZZ_Mind_bomb
cd023453313-3358  ZZ_dah
cd00176560-827  SPEC
cl02488560-827  SPEC superfamily
pfam127612474-2578  End3
cl150772474-2578  End3 superfamily
smart001502809-2930  SPEC
pfam00435727-827  Spectrin
cd023403315-3357  ZZ_NBR1_like
cd047692286-2339  HTH_MerR2
cl026002286-2339  HTH_MerR-SF superfamily
COG13401704-1974  COG1340
COG506912-232  SAC6
TIGR01612763-1938  235kDa-fam
TIGR021681126-1936  SMC_prok_B
COG11961695-2569  Smc
TIGR021682123-2818  SMC_prok_B
COG11961125-1928  Smc
TIGR021681023-1938  SMC_prok_B
COG11961008-1938  Smc
COG11962122-2953  Smc
PTZ001211357-1964  PTZ00121
PRK039181021-1633  PRK03918
COG11962167-2954  Smc
COG11961338-2101  Smc
TIGR021681350-1980  SMC_prok_B
TIGR02168922-1566  SMC_prok_B
TIGR02168751-1496  SMC_prok_B
TIGR021682286-3020  SMC_prok_B
PRK022241360-1938  PRK02224
TIGR021691275-1934  SMC_prok_A
TIGR021681824-2617  SMC_prok_B
pfam135142286-2946  AAA_27
TIGR00618655-1264  sbcc
TIGR02169975-1243  SMC_prok_A
pfam024631041-1926  SMC_N
TIGR021691665-2428  SMC_prok_A
COG04191013-1543  SbcC
COG04192491-3009  SbcC
PRK039182160-2628  PRK03918
COG1196454-1315  Smc
TIGR00606922-1868  rad50
TIGR045231618-1926  Mplasa_alph_rch
COG1196943-1585  Smc
COG1196701-1580  Smc
COG1196976-1848  Smc
TIGR006061692-2578  rad50
TIGR021681704-2352  SMC_prok_B
TIGR006181114-1882  sbcc
pfam015761026-1580  Myosin_tail_1
TIGR021681832-2632  SMC_prok_B
TIGR021681340-2360  SMC_prok_B
TIGR021692065-2906  SMC_prok_A
PRK011561261-1850  PRK01156
pfam054832527-2992  SCP-1
COG11961352-2224  Smc
COG04191702-2337  SbcC
COG04191126-1657  SbcC
pfam135142500-2961  AAA_27
TIGR02168578-1375  SMC_prok_B
PRK03918929-1473  PRK03918
COG11962286-3044  Smc
PRK004092486-2625  PRK00409
TIGR00606905-1814  rad50
COG04191756-2360  SbcC
PRK039182520-2954  PRK03918
pfam05483718-1396  SCP-1
COG04192009-2561  SbcC
pfam054831268-1934  SCP-1
TIGR006182164-2942  sbcc
TIGR02169701-1027  SMC_prok_A
PTZ001211398-1934  PTZ00121
TIGR021691296-1656  SMC_prok_A
pfam135142307-3016  AAA_27
TIGR00618961-1547  sbcc
pfam131661617-1932  AAA_13
TIGR026802503-2893  TIGR02680
TIGR021692198-3033  SMC_prok_A
pfam097311714-1967  Mitofilin
TIGR006181541-1934  sbcc
PRK039181416-1944  PRK03918
pfam152942203-2339  Leu_zip
COG11962674-2994  Smc
pfam135141845-2632  AAA_27
PRK039181342-1930  PRK03918
TIGR021692315-3040  SMC_prok_A
TIGR021691784-2629  SMC_prok_A
pfam041562303-2422  IncA
TIGR010692492-2627  mutS2
TIGR02169971-1266  SMC_prok_A


Ontology Information


   
HPRD ID6120
Molecular ClassStructural protein
Molecular FunctionTransporter activity (GO:0005215)
Biological ProcessMetabolism (GO:0008152); Energy pathways (GO:0006091)  



SNP Information


View SNP Geneview Report   

Drug Information


No matching records could be found.

External Links


                                 
ArrayExpressGO
ICGCGO
Cancer3DGO
COSMICGO
NCGGO
TSGeneGO
Tumor Gene Family of DatabasesGO
CCDBGO
G2SBCGO
Osteosarcoma DatabaseGO
RCDBGO