CaMPDB :: Substrate

XSB0468 : dystrophin Dp427l isoform [Homo sapiens]

This entry is computationally expanded from SB0073

* Basic Information

Organism	Homo sapiens (human)
Protein Names	Dystrophin; dystrophin Dp427l isoform
Gene Names	DMD; dystrophin
Gene Locus	Xp21.2; chromosome X
GO Function	Not available

Entrez Protein	Entrez Nucleotide	Entrez Gene	UniProt	OMIM	HGNC	HPRD	KEGG
NP_003998	NM_004007	1756	P11532	300377	2928	N/A	hsa:1756

* Information From OMIM

Description: The DMD gene encodes dystrophin, a large muscle protein that is mutant in Duchenne (OMIM:310200) and Becker (OMIM:300376) muscular dystrophy, defined as progressive deterioration of muscle tissue and resultant weakness.

* Structure Information

1. Primary Information

Length: 3562 aa

Average Mass: 412.400 kDa

Monoisotopic Mass: 412.144 kDa

2. Domain Information

Annotated Domains: interpro / pfam / smart / prosite

Computationally Assigned Domains (Pfam+HMMER):

domain name	begin	end	score	e-value
CH 1.	12	117	100.9	4.3e-27
Spectrin 1.	216	324	79.5	1.2e-20
Spectrin 2.	325	433	69.0	1.8e-17
Spectrin 3.	596	704	11.9	0.0034
Spectrin 4.	707	811	40.8	5.3e-09
Spectrin 5.	820	922	8.5	0.0065
Spectrin 6.	925	1031	89.1	1.6e-23
Spectrin 7.	1034	1140	58.9	1.9e-14
Spectrin 8.	1143	1244	16.4	0.0014
DUF1136 1.	1290	1313	-5.0	6.4
Spectrin 9.	1336	1445	0.4	0.031
Spectrin 10.	1448	1553	53.2	1e-12
Spectrin 11.	1556	1656	60.3	7.4e-15
Involucrin 1.	1726	1735	2.3	1.3e
Spectrin 12.	1754	1856	47.1	6.8e-11
--- cleavage 1869 ---
Spectrin 13.	1981	2085	80.2	7.7e-21
Spectrin 14.	2088	2195	63.3	9.2e-16
Involucrin 2.	2207	2216	3.7	58
VitD-bind_III 1.	2267	2328	-24.8	6
Spectrin 15.	2347	2454	20.2	0.00068
Spectrin 16.	2457	2563	57.2	6.4e-14
Spectrin 17.	2566	2679	22.7	0.00042
Spectrin 18.	2811	2917	76.9	7.2e-20
WW 1.	2934	2963	48.9	2e-11
efhand_1 1.	2964	3084	274.7	2.1e-79
efhand_2 1.	3088	3179	230.0	6.1e-66
ZZ 1.	3184	3229	93.3	8.6e-25
M 1.	3378	3398	9.4	8.3
M 2.	3444	3464	5.1	31

3. Sequence Information

Fasta Sequence: XSB0468.fasta

Amino Acid Sequence and Secondary Structures (PsiPred):

4. 3D Information

Known Structures in PDB: 1DXX (X-ray; 260 A; A/B/C/D=1-246), 1EG3 (X-ray; 200 A; A=3046-3306), 1EG4 (X-ray; 200 A; A=3046-3306)

* Cleavage Information

1 [sites]

Cleavage sites (±10aa)

[Site 1] MVMTEDMPLE¹⁸⁶⁹-ISYVPSTYLT

Glu¹⁸⁶⁹ Ile

P10	P9	P8	P7	P6	P5	P4	P3	P2	P1

Met¹⁸⁶⁰	Val¹⁸⁶¹	Met¹⁸⁶²	Thr¹⁸⁶³	Glu¹⁸⁶⁴	Asp¹⁸⁶⁵	Met¹⁸⁶⁶	Pro¹⁸⁶⁷	Leu¹⁸⁶⁸	Glu¹⁸⁶⁹

P1'	P2'	P3'	P4'	P5'	P6'	P7'	P8'	P9'	P10'
Ile¹⁸⁷⁰	Ser¹⁸⁷¹	Tyr¹⁸⁷²	Val¹⁸⁷³	Pro¹⁸⁷⁴	Ser¹⁸⁷⁵	Thr¹⁸⁷⁶	Tyr¹⁸⁷⁷	Leu¹⁸⁷⁸	Thr¹⁸⁷⁹

Sequence conservation (by blast) Sequence conservation (by blast)

Reference peptide (cleaved bond±30 residues)
FAQFRRLNFAQIHTVREETMMVMTEDMPLEISYVPSTYLTEITHVSQALLEVEQLLNAPD

Summary

#	organism	max score	hits	top seq
1	Homo sapiens	120.00	15	dystrophin Dp427l isoform
2	N/A	120.00	2	D
3	Macaca mulatta	118.00	1	PREDICTED: dystrophin, partial
4	Bos taurus	110.00	1	PREDICTED: similar to dystrophin Dp260-1
5	Sus scrofa	109.00	1	dystrophin
6	Canis lupus familiaris	108.00	1	dystrophin
7	Canis familiaris	108.00	1	PREDICTED: hypothetical protein XP_850502
8	Rattus norvegicus	103.00	1	PREDICTED: similar to dystrophin, muscular dystrop
9	Mus musculus	99.40	1	dystrophin, muscular dystrophy
10	Monodelphis domestica	85.50	1	PREDICTED: similar to T cell antigen receptor alph

Top-ranked sequences

organism	matching
Homo sapiens	Query 1840 FAQFRRLNFAQIHTVREETMMVMTEDMPLE#ISYVPSTYLTEITHVSQALLEVEQLLNAPD 1899 \|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|#\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\| Query 1840 FAQFRRLNFAQIHTVREETMMVMTEDMPLE#ISYVPSTYLTEITHVSQALLEVEQLLNAPD 1899
N/A	Query 1840 FAQFRRLNFAQIHTVREETMMVMTEDMPLE#ISYVPSTYLTEITHVSQALLEVEQLLNAPD 1899 \|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|#\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\| Query 1840 FAQFRRLNFAQIHTVREETMMVMTEDMPLE#ISYVPSTYLTEITHVSQALLEVEQLLNAPD 1899
Macaca mulatta	Query 1840 FAQFRRLNFAQIHTVREETMMVMTEDMPLE#ISYVPSTYLTEITHVSQALLEVEQLLNAPD 1899 \|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|#\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\| \|\|\|\|\|\|\|\|\|\| Sbjct 1665 FAQFRRLNFAQIHTVREETMMVMTEDMPLE#ISYVPSTYLTEITHVSQALSEVEQLLNAPD 1724
Bos taurus	Query 1840 FAQFRRLNFAQIHTVREETMMVMTEDMPLE#ISYVPSTYLTEITHVSQALLEVEQLLNAPD 1899 \|\|\|\|\|\|\|\|\|\|\|\|\|\|\| \|\|++\|\|\|\|\|\|\|\|\|\|#\|\|\|\|\|\|\|\|\|\|\|\|\|\|\| \|\|\| \|\|\|\|\|\|\|\|\|\| Sbjct 622 FAQFRRLNFAQIHTVHEESVMVMTEDMPLE#ISYVPSTYLTEITHVLQALSEVEQLLNAPD 681
Sus scrofa	Query 1840 FAQFRRLNFAQIHTVREETMMVMTEDMPLE#ISYVPSTYLTEITHVSQALLEVEQLLNAPD 1899 \|\| \|\|\|\|\|\|\|\|\|\|\|\| \|\|++\|\|\|\|\|\|\|\|\|\|#\|\|\|\|\|\| \|\|\|\|\|\|\|\|\|\|\|\| \|\|\|\|\|\|\|\|\|\| Sbjct 1959 FAHFRRLNFAQIHTVHEESVMVMTEDMPLE#ISYVPSAYLTEITHVSQALSEVEQLLNAPD 2018
Canis lupus familiaris	Query 1840 FAQFRRLNFAQIHTVREETMMVMTEDMPLE#ISYVPSTYLTEITHVSQALLEVEQLLNAPD 1899 \|\|\|\|\|\|\|\|\|\|\|\|\|\|\| \|\|+++ \|\|\|\|\|\|\|\|#\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\| \|\|\|+\|\|\|\|\|\| Sbjct 1965 FAQFRRLNFAQIHTVHEESVVAMTEDMPLE#ISYVPSTYLTEITHVSQALSEVEELLNAPD 2024
Canis familiaris	Query 1840 FAQFRRLNFAQIHTVREETMMVMTEDMPLE#ISYVPSTYLTEITHVSQALLEVEQLLNAPD 1899 \|\|\|\|\|\|\|\|\|\|\|\|\|\|\| \|\|+++ \|\|\|\|\|\|\|\|#\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\| \|\|\|+\|\|\|\|\|\| Sbjct 1842 FAQFRRLNFAQIHTVHEESVVAMTEDMPLE#ISYVPSTYLTEITHVSQALSEVEELLNAPD 1901
Rattus norvegicus	Query 1840 FAQFRRLNFAQIHTVREETMMVMTEDMPLE#ISYVPSTYLTEITHVSQALLEVEQLLNAPD 1899 \|\|\|\|\|\|\|\|\|\|\|\|\|\|+ \|\|\|\|+\| \|\|\|\|\|\|+#+\|\|\|\|\|\|\|\|\|\|\|+\|+ \|\|\| \|\|\|\|\|\|\|\|\|+ Sbjct 1619 FAQFRRLNFAQIHTLHEETMVVTTEDMPLD#VSYVPSTYLTEISHILQALSEVEQLLNAPE 1678
Mus musculus	Query 1840 FAQFRRLNFAQIHTVREETMMVMTEDMPLE#ISYVPSTYLTEITHVSQALLEVEQLLNAPD 1899 \|\|\|\|\|\|\|\|\|\|\|\|\|\|+ \|\|\|\|+\| \|\|\|\|\|\|+#+\|\|\|\|\|\|\|\|\|\|\|+\|+ \|\|\| \|\|+ \|\|\| \|+ Sbjct 1965 FAQFRRLNFAQIHTLHEETMVVTTEDMPLD#VSYVPSTYLTEISHILQALSEVDHLLNTPE 2024
Monodelphis domestica	Query 1840 FAQFRRLNFAQIHTVREETMMVMTEDMPLE#ISYVPSTYLTEITHVSQALLEVEQLLNAPD 1899 \|\|\|\|\|\|\|\|+\|\|\| \|\|\|\|\|\| \|\|\|\|\| +\|\|\|# \|\|\|\|\|\|\| \|\| \|+\| + \| \| \|\|\| \|\| Sbjct 1958 FAQFRRLNYAQIQTVREETTMVMTEGLPLE#TLYVPSTYLAEIHRVTQNISEAEFLLNTPD 2017

* References

[PubMed ID: 19409785] Almomani R, van der Stoep N, Bakker E, den Dunnen JT, Breuning MH, Ginjaar IB, Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysis. Neuromuscul Disord. 2009 Jun;19(6):383-90. Epub 2009 May 5.

» More (9) « Hide Below

[PubMed ID: 19158079] ... Legardinier S, Legrand B, Raguenes-Nicol C, Bondon A, Hardy S, Tascon C, Le Rumeur E, Hubert JF, A Two-amino Acid Mutation Encountered in Duchenne Muscular Dystrophy Decreases Stability of the Rod Domain 23 (R23) Spectrin-like Repeat of Dystrophin. J Biol Chem. 2009 Mar 27;284(13):8822-32. Epub 2009 Jan 20.

[PubMed ID: 19194174] ... Vatta M, Sinagra G, Brunelli L, Faulkner G, Remodeling of dystrophin and sarcomeric Z-band occurs in pediatric cardiomyopathies: a unifying mechanism for force transmission defect. J Cardiovasc Med (Hagerstown). 2009 Feb;10(2):149-56.

[PubMed ID: 19084397] ... Piko H, Vancso V, Nagy B, Ban Z, Herczegfalvi A, Karcagi V, Dystrophin gene analysis in Hungarian Duchenne/Becker muscular dystrophy families - detection of carrier status in symptomatic and asymptomatic female relatives. Neuromuscul Disord. 2009 Feb;19(2):108-12. Epub 2008 Dec 11.

[PubMed ID: 19173203] ... Gonzalez-Herrera L, Gamas-Trujillo PA, Garcia-Escalante MG, Castillo-Zapata I, Pinto-Escalante D, [Identifying deletions in the dystrophin gene and detecting carriers in families with Duchenne's/Becker's muscular dystrophy] Rev Neurol. 2009 Jan 16-31;48(2):66-70.

[PubMed ID: 1307253] ... Nigro V, Politano L, Nigro G, Romano SC, Molinari AM, Puca GA, Detection of a nonsense mutation in the dystrophin gene by multiple SSCP. Hum Mol Genet. 1992 Oct;1(7):517-20.

[PubMed ID: 1307251] ... Gorecki DC, Monaco AP, Derry JM, Walker AP, Barnard EA, Barnard PJ, Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters. Hum Mol Genet. 1992 Oct;1(7):505-10.

[PubMed ID: 1380160] ... Hugnot JP, Gilgenkrantz H, Vincent N, Chafey P, Morris GE, Monaco AP, Berwald-Netter Y, Koulakoff A, Kaplan JC, Kahn A, et al., Distal transcript of the dystrophin gene initiated from an alternative first exon and encoding a 75-kDa protein widely distributed in nonmuscle tissues. Proc Natl Acad Sci U S A. 1992 Aug 15;89(16):7506-10.

[PubMed ID: 1319059] ... Lederfein D, Levy Z, Augier N, Mornet D, Morris G, Fuchs O, Yaffe D, Nudel U, A 71-kilodalton protein is a major product of the Duchenne muscular dystrophy gene in brain and other nonmuscle tissues. Proc Natl Acad Sci U S A. 1992 Jun 15;89(12):5346-50.

[PubMed ID: 1377655] ... Rapaport D, Lederfein D, den Dunnen JT, Grootscholten PM, Van Ommen GJ, Fuchs O, Nudel U, Yaffe D, Characterization and cell type distribution of a novel, major transcript of the Duchenne muscular dystrophy gene. Differentiation. 1992 Apr;49(3):187-93.