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Reviewed, UniProtKB/Swiss-Prot P11532 (DMD_HUMAN)

Last modified November 25, 2008. Version 120. Feed History...

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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Dystrophin
Gene names
Name: DMD
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length3685 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

General annotation (Comments)

Function

May play a role in anchoring the cytoskeleton to the plasma membrane.

Subunit structure

Interacts with the syntrophins SNTA1, SNTB1, SNTB2, SNTG1 and SNTG2. Interacts with KRT19.

Subcellular location

Cell membranesarcolemma; Peripheral membrane protein; Cytoplasmic side. Cytoplasmcytoskeleton.

Tissue specificity

Expressed in muscle fibers accumulating in the costameres of myoplasm at the sarcolemma. Isoform 5 is expressed in brain, liver, testis and hepatoma cells.

Involvement in disease

Defects in DMD are the cause of Duchenne muscular dystrophy (DMD) [MIM:310200]. DMD is the most common form of muscular dystrophy; a sex-linked recessive disorder. It typically presents in boys aged 3 to 7 year as proximal muscle weakness causing waddling gait, toe-walking, lordosis, frequent falls, and difficulty in standing up and climbing up stairs. The pelvic girdle is affected first, then the shoulder girdle. Progression is steady and most patients are confined to a wheelchair by age of 10 or 12. Flexion contractures and scoliosis ultimately occur. About 50% of patients have a lower IQ than their genetic expectations would suggest. There is no treatment.

Defects in DMD are the cause of Becker muscular dystrophy (BMD) [MIM:300376]. BMD resembles DMD in hereditary and clinical features but is later in onset and more benign.

Defects in DMD are a cause of cardiomyopathy dilated X-linked type 3B (CMD3B) [MIM:302045]; also known as X-linked dilated cardiomyopathy (XLCM). Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

Miscellaneous

The DMD gene is the largest known gene in humans. It is 2.4 million base-pairs in size, comprises 79 exons and takes over 16 hours to be transcribed and cotranscriptionally spliced.

Sequence similarities

Contains 2 CH (calponin-homology) domains.

Contains 22 spectrin repeats.

Contains 1 WW domain.

Contains 1 ZZ-type zinc finger.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

DtnbO705851EBI-295827,EBI-349714From a different organism.
KRT19P087271EBI-295827,EBI-742756
SNTB1Q138843EBI-295827,EBI-295843
SNTB2Q134251EBI-295827,EBI-80411

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]

Notes: Additional isoforms seem to exist.
Isoform 4 (identifier: P11532-1)

Also known as: Dystrophin-4;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 1 (identifier: P11532-2)

Also known as: Dystrophin-1;

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MTEIILLIFFPAYFLN
     2-1357: Missing.
Isoform 2 (identifier: P11532-3)

Also known as: Dystrophin-2;

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MSARKLRNLSYKK
     2-1357: Missing.
Isoform 3 (identifier: P11532-4)

Also known as: Dystrophin-3;

The sequence of this isoform differs from the canonical sequence as follows:
     1-11: MLWWEEVEDCY → MED
Isoform 5 (identifier: P11532-5)

Also known as: Dp71;

The sequence of this isoform differs from the canonical sequence as follows:
     1-3068: Missing.
     3069-3075: KVPYYIN → MREQLKG
     3410-3422: Missing.
     3673-3685: RNTPGKPMREDTM → HNVGSLFHMADDLGRAMESLVSVMTDEEGAE

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 36853685Dystrophin
PRO_0000076075

Regions

Domain1 – 240240Actin-binding
Domain15 – 119105CH 1
Domain134 – 237104CH 2
Repeat339 – 447109Spectrin 1
Repeat448 – 556109Spectrin 2
Repeat559 – 667109Spectrin 3
Repeat719 – 828110Spectrin 4
Repeat830 – 934105Spectrin 5
Repeat943 – 1045103Spectrin 6
Repeat1048 – 1154107Spectrin 7
Repeat1157 – 1263107Spectrin 8
Repeat1266 – 1367102Spectrin 9
Repeat1468 – 1568101Spectrin 10
Repeat1571 – 1676106Spectrin 11
Repeat1679 – 1780102Spectrin 12
Repeat1877 – 1979103Spectrin 13
Repeat2011 – 210191Spectrin 14
Repeat2104 – 2208105Spectrin 15
Repeat2211 – 2318108Spectrin 16
Repeat2475 – 2577103Spectrin 17
Repeat2580 – 2686107Spectrin 18
Repeat2689 – 2802114Spectrin 19
Repeat2805 – 2907103Spectrin 20
Repeat2909 – 293123Spectrin 21
Repeat2934 – 3040107Spectrin 22
Domain3055 – 308834WW
Zinc finger3307 – 335448ZZ-type
Region3466 – 351853Binds to SNTB1

Amino acid modifications

Modified residue15901Phosphothreonine
Modified residue36131Phosphoserine
Modified residue36241Phosphoserine By similarity

Natural variations

Alternative sequence1 – 30683068Missing in isoform 5.
VSP_017490
Alternative sequence1 – 1111MLWWEEVEDCY → MED in isoform 3.
VSP_006809
Alternative sequence11M → MTEIILLIFFPAYFLN in isoform 1.
VSP_006806
Alternative sequence11M → MSARKLRNLSYKK in isoform 2.
VSP_006808
Alternative sequence2 – 13571356Missing in isoform 1 and isoform 2.
VSP_006807
Alternative sequence3069 – 30757KVPYYIN → MREQLKG in isoform 5.
VSP_017491
Alternative sequence3410 – 342213Missing in isoform 5.
VSP_017492
Alternative sequence3673 – 368513RNTPG…REDTM → HNVGSLFHMADDLGRAMESL VSVMTDEEGAE in isoform 5.
VSP_017493
Natural variant181K → N in CMD3B.
VAR_023537
Natural variant32 – 6231Missing in BMD.
VAR_005146
Natural variant541L → R in DMD.
VAR_005147
Natural variant1331Q → P: dbSNP rs1800256.
VAR_005148
Natural variant1651D → V in one patient with Becker muscular dystrophy.
VAR_023538
Natural variant1681A → D in BMD.
VAR_005149
Natural variant1711A → P in BMD.
VAR_023539
Natural variant2311Y → N in BMD.
VAR_005150
Natural variant2791T → A in CMD3B.
VAR_023540
Natural variant3341L → F in a colorectal cancer sample; somatic mutation.
VAR_036353
Natural variant3651Q → H: dbSNP rs1800266.
VAR_005151
Natural variant495 – 53440Missing in BMD.
VAR_005152
Natural variant6231L → I: dbSNP rs1800259.
VAR_005153
Natural variant6451D → G in DMD.
VAR_023541
Natural variant7731K → E in DMD.
VAR_005154
Natural variant7841A → G: dbSNP rs1800260.
VAR_005155
Natural variant8821G → D: dbSNP rs228406.
VAR_005156
Natural variant11971V → F: dbSNP rs1800262.
VAR_005157
Natural variant12191E → Q in a breast cancer sample; somatic mutation.
VAR_036354
Natural variant12451T → I: dbSNP rs1800269.
VAR_005158
Natural variant12781A → P: dbSNP rs1800270.
VAR_005159
Natural variant13771K → N: dbSNP rs1800263.
VAR_005160
Natural variant14691Q → L: dbSNP rs1057872.
VAR_005161
Natural variant14701R → H in a breast cancer sample; somatic mutation.
VAR_036355
Natural variant16721N → K in CMD3B.
VAR_023542
Natural variant17451R → H: dbSNP rs1801187.
VAR_005162
Natural variant18441R → S: dbSNP rs1801186.
VAR_005163
Natural variant21551R → W: dbSNP rs1800273.
VAR_005164
Natural variant21641A → V in a colorectal cancer sample; somatic mutation.
VAR_036356
Natural variant21911R → W
VAR_005165
Natural variant22991N → T
VAR_023543
Natural variant2305 – 236662Missing in DMD.
VAR_005166
Natural variant23661K → Q: dbSNP rs1800275.
VAR_005167
Natural variant29101E → V
VAR_005168
Natural variant29121N → D: dbSNP rs1800278.
VAR_005169
Natural variant29211H → R in BMD. dbSNP rs1800279.
VAR_005170
Natural variant29371Q → R: dbSNP rs1800280.
VAR_005171
Natural variant32281F → L in CMD3B.
VAR_023544
Natural variant33131C → F in one patient with Duchenne muscular dystrophy.