CaMPDB :: Substrate

XSB2957 : dystrophin Dp260-1 isoform [Homo sapiens]

This entry is computationally expanded from SB0073

* Basic Information

Organism	Homo sapiens (human)
Protein Names	Dystrophin; dystrophin Dp260-1 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_004002	NM_004011	1756	DMD_HUMAN	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: 2344 aa

Average Mass: 271.409 kDa

Monoisotopic Mass: 271.240 kDa

2. Domain Information

Annotated Domains: interpro / pfam / smart / prosite

Computationally Assigned Domains (Pfam+HMMER):

domain name	begin	end	score	e-value
DUF1136 1.	72	95	-5.0	6.4
Spectrin 1.	118	227	0.4	0.031
Spectrin 2.	230	335	53.2	1e-12
Spectrin 3.	338	438	60.3	7.4e-15
Involucrin 1.	508	517	2.3	1.3e
Spectrin 4.	536	638	47.1	6.8e-11
--- cleavage 651 ---
Spectrin 5.	763	867	80.2	7.7e-21
Spectrin 6.	870	977	63.3	9.2e-16
Involucrin 2.	989	998	3.7	58
VitD-bind_III 1.	1049	1110	-24.8	6
Spectrin 7.	1129	1236	20.2	0.00068
Spectrin 8.	1239	1345	57.2	6.4e-14
Spectrin 9.	1348	1461	22.7	0.00042
Spectrin 10.	1593	1699	76.9	7.2e-20
WW 1.	1716	1745	48.9	2e-11
efhand_1 1.	1746	1866	274.7	2.1e-79
efhand_2 1.	1870	1961	230.0	6.1e-66
ZZ 1.	1966	2011	93.3	8.6e-25
M 1.	2160	2180	9.4	8.3
M 2.	2226	2246	5.1	31

3. Sequence Information

Fasta Sequence: XSB2957.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] MVMTEDMPLE⁶⁵¹-ISYVPSTYLT

Glu⁶⁵¹ Ile

P10	P9	P8	P7	P6	P5	P4	P3	P2	P1

Met⁶⁴²	Val⁶⁴³	Met⁶⁴⁴	Thr⁶⁴⁵	Glu⁶⁴⁶	Asp⁶⁴⁷	Met⁶⁴⁸	Pro⁶⁴⁹	Leu⁶⁵⁰	Glu⁶⁵¹

P1'	P2'	P3'	P4'	P5'	P6'	P7'	P8'	P9'	P10'
Ile⁶⁵²	Ser⁶⁵³	Tyr⁶⁵⁴	Val⁶⁵⁵	Pro⁶⁵⁶	Ser⁶⁵⁷	Thr⁶⁵⁸	Tyr⁶⁵⁹	Leu⁶⁶⁰	Thr⁶⁶¹

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 Dp260-1 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 622 FAQFRRLNFAQIHTVREETMMVMTEDMPLE#ISYVPSTYLTEITHVSQALLEVEQLLNAPD 681 \|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|#\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\| Query 622 FAQFRRLNFAQIHTVREETMMVMTEDMPLE#ISYVPSTYLTEITHVSQALLEVEQLLNAPD 681
N/A	Query 622 FAQFRRLNFAQIHTVREETMMVMTEDMPLE#ISYVPSTYLTEITHVSQALLEVEQLLNAPD 681 \|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|#\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\| Query 622 FAQFRRLNFAQIHTVREETMMVMTEDMPLE#ISYVPSTYLTEITHVSQALLEVEQLLNAPD 681
Macaca mulatta	Query 622 FAQFRRLNFAQIHTVREETMMVMTEDMPLE#ISYVPSTYLTEITHVSQALLEVEQLLNAPD 681 \|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|#\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\| \|\|\|\|\|\|\|\|\|\| Sbjct 1665 FAQFRRLNFAQIHTVREETMMVMTEDMPLE#ISYVPSTYLTEITHVSQALSEVEQLLNAPD 1724
Bos taurus	Query 622 FAQFRRLNFAQIHTVREETMMVMTEDMPLE#ISYVPSTYLTEITHVSQALLEVEQLLNAPD 681 \|\|\|\|\|\|\|\|\|\|\|\|\|\|\| \|\|++\|\|\|\|\|\|\|\|\|\|#\|\|\|\|\|\|\|\|\|\|\|\|\|\|\| \|\|\| \|\|\|\|\|\|\|\|\|\| Sbjct 622 FAQFRRLNFAQIHTVHEESVMVMTEDMPLE#ISYVPSTYLTEITHVLQALSEVEQLLNAPD 681
Sus scrofa	Query 622 FAQFRRLNFAQIHTVREETMMVMTEDMPLE#ISYVPSTYLTEITHVSQALLEVEQLLNAPD 681 \|\| \|\|\|\|\|\|\|\|\|\|\|\| \|\|++\|\|\|\|\|\|\|\|\|\|#\|\|\|\|\|\| \|\|\|\|\|\|\|\|\|\|\|\| \|\|\|\|\|\|\|\|\|\| Sbjct 1959 FAHFRRLNFAQIHTVHEESVMVMTEDMPLE#ISYVPSAYLTEITHVSQALSEVEQLLNAPD 2018
Canis lupus familiaris	Query 622 FAQFRRLNFAQIHTVREETMMVMTEDMPLE#ISYVPSTYLTEITHVSQALLEVEQLLNAPD 681 \|\|\|\|\|\|\|\|\|\|\|\|\|\|\| \|\|+++ \|\|\|\|\|\|\|\|#\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\| \|\|\|+\|\|\|\|\|\| Sbjct 1965 FAQFRRLNFAQIHTVHEESVVAMTEDMPLE#ISYVPSTYLTEITHVSQALSEVEELLNAPD 2024
Canis familiaris	Query 622 FAQFRRLNFAQIHTVREETMMVMTEDMPLE#ISYVPSTYLTEITHVSQALLEVEQLLNAPD 681 \|\|\|\|\|\|\|\|\|\|\|\|\|\|\| \|\|+++ \|\|\|\|\|\|\|\|#\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\| \|\|\|+\|\|\|\|\|\| Sbjct 1842 FAQFRRLNFAQIHTVHEESVVAMTEDMPLE#ISYVPSTYLTEITHVSQALSEVEELLNAPD 1901
Rattus norvegicus	Query 622 FAQFRRLNFAQIHTVREETMMVMTEDMPLE#ISYVPSTYLTEITHVSQALLEVEQLLNAPD 681 \|\|\|\|\|\|\|\|\|\|\|\|\|\|+ \|\|\|\|+\| \|\|\|\|\|\|+#+\|\|\|\|\|\|\|\|\|\|\|+\|+ \|\|\| \|\|\|\|\|\|\|\|\|+ Sbjct 1619 FAQFRRLNFAQIHTLHEETMVVTTEDMPLD#VSYVPSTYLTEISHILQALSEVEQLLNAPE 1678
Mus musculus	Query 622 FAQFRRLNFAQIHTVREETMMVMTEDMPLE#ISYVPSTYLTEITHVSQALLEVEQLLNAPD 681 \|\|\|\|\|\|\|\|\|\|\|\|\|\|+ \|\|\|\|+\| \|\|\|\|\|\|+#+\|\|\|\|\|\|\|\|\|\|\|+\|+ \|\|\| \|\|+ \|\|\| \|+ Sbjct 1965 FAQFRRLNFAQIHTLHEETMVVTTEDMPLD#VSYVPSTYLTEISHILQALSEVDHLLNTPE 2024
Monodelphis domestica	Query 622 FAQFRRLNFAQIHTVREETMMVMTEDMPLE#ISYVPSTYLTEITHVSQALLEVEQLLNAPD 681 \|\|\|\|\|\|\|\|+\|\|\| \|\|\|\|\|\| \|\|\|\|\| +\|\|\|# \|\|\|\|\|\|\| \|\| \|+\| + \| \| \|\|\| \|\| 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.