Dystrophin

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functionⁱ

Regions

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functionⁱ

• actin binding Source: MGI
• dystroglycan binding Source: MGI
• integrin binding Source: Ensembl
• lamin binding Source: Ensembl
• myosin binding Source: MGI
• nitric-oxide synthase binding Source: BHF-UCL <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactionⁱ
  • 7545544
• PDZ domain binding Source: Ensembl
• structural constituent of muscle Source: MGI
• vinculin binding Source: MGI
• zinc ion binding Source: InterPro

GO - Biological processⁱ

• aging Source: Ensembl
• cardiac muscle cell action potential Source: BHF-UCL <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ
  • 20080623
  • 21677768
• cardiac muscle contraction Source: MGI
• cellular protein-containing complex assembly Source: BHF-UCLInferred from mutant phenotypeⁱ
  • 19198614
  • 20080623
• cellular protein localization Source: BHF-UCLInferred from mutant phenotypeⁱ
  • 7545544
• cerebral cortex development Source: Ensembl
• establishment of blood-nerve barrier Source: MGIInferred from mutant phenotypeⁱ
  • 12673830
• establishment of glial blood-brain barrier Source: MGIInferred from mutant phenotypeⁱ
  • 12673830
• muscle cell cellular homeostasis Source: MGIInferred from mutant phenotypeⁱ
  • 6583703
• muscle fiber development Source: MGI <p>Inferred from Genetic Interaction</p> <p>Used to describe “traditional” genetic interactions such as suppressors and synthetic lethals as well as other techniques such as functional complementation, rescue experiments, or inferences about a gene drawn from the phenotype of a mutation in a different gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#igi">GO evidence code guide</a></p> Inferred from genetic interactionⁱ
  • 8007658
• muscle organ development Source: MGIInferred from mutant phenotypeⁱ
  • 14645204
• myotube cell development Source: MGIInferred from mutant phenotypeⁱ
  • 19535499
• negative regulation of ERK1 and ERK2 cascade Source: MGIInferred from mutant phenotypeⁱ
  • 14718391
• negative regulation of neuron differentiation Source: Ensembl
• negative regulation of peptidyl-cysteine S-nitrosylation Source: BHF-UCLInferred from mutant phenotypeⁱ
  • 19198614
  • 20080623
• negative regulation of peptidyl-serine phosphorylation Source: BHF-UCLInferred from mutant phenotypeⁱ
  • 23263329
• neuron projection morphogenesis Source: Ensembl
• neurotransmitter receptor metabolic process Source: MGIInferred from mutant phenotypeⁱ
  • 9334395
• nucleus localization Source: MGIInferred from mutant phenotypeⁱ
  • 19535499
• olfactory nerve structural organization Source: MGIInferred from mutant phenotypeⁱ
  • 18586242
• peptide biosynthetic process Source: MGI
• positive regulation of cell-matrix adhesion Source: BHF-UCLInferred from mutant phenotypeⁱ
  • 12370193
• positive regulation of cell proliferation Source: Ensembl
• positive regulation of neuron differentiation Source: MGI
• positive regulation of neuron projection development Source: MGI
• positive regulation of sodium ion transmembrane transporter activity Source: BHF-UCLInferred from mutant phenotypeⁱ
  • 21677768
• regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion Source: BHF-UCLInferred from mutant phenotypeⁱ
  • 20080623
• regulation of cell cycle Source: Ensembl
• regulation of cellular response to growth factor stimulus Source: MGI
• regulation of gene expression Source: MGIInferred from mutant phenotypeⁱ
  • 22000014
• regulation of heart rate Source: BHF-UCLInferred from mutant phenotypeⁱ
  • 20080623
• regulation of membrane potential Source: MGIInferred from mutant phenotypeⁱ
  • 11882673
• regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum Source: BHF-UCLInferred from mutant phenotypeⁱ
  • 20080623
  • 23263329
• regulation of ryanodine-sensitive calcium-release channel activity Source: BHF-UCLInferred from mutant phenotypeⁱ
  • 20080623
• regulation of skeletal muscle contraction Source: BHF-UCLInferred from mutant phenotypeⁱ
  • 19198614
• regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion Source: BHF-UCLInferred from mutant phenotypeⁱ
  • 19198614
• regulation of transcription, DNA-templated Source: MGIInferred from mutant phenotypeⁱ
  • 7919967
• regulation of voltage-gated calcium channel activity Source: BHF-UCLInferred from mutant phenotypeⁱ
  • 21677768
• response to denervation involved in regulation of muscle adaptation Source: Ensembl
• response to muscle stretch Source: MGIInferred from mutant phenotypeⁱ
  • 11882673
  • 14718391
• response to water deprivation Source: Ensembl
• skeletal muscle tissue development Source: MGIInferred from mutant phenotypeⁱ
  • 16371353
• skeletal muscle tissue regeneration Source: Ensembl

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsⁱ

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyⁱ

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationⁱ

Keywords - Cellular componentⁱ

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechⁱ

<p>This subsection of the ‘Pathology and Biotech’ section describes the in vivo effects caused by ablation of the gene (or one or more transcripts) coding for the protein described in the entry. This includes gene knockout and knockdown, provided experiments have been performed in the context of a whole organism or a specific tissue, and not at the single-cell level.<p><a href='/help/disruption_phenotype' target='_top'>More...</a></p>Disruption phenotypeⁱ

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingⁱ

Molecule processing

Amino acid modifications

Keywords - PTMⁱ

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressionⁱ

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityⁱ

Gene expression databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactionⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structureⁱ

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsⁱ

GO - Molecular functionⁱ

• actin binding Source: MGI
• dystroglycan binding Source: MGI
• integrin binding Source: Ensembl
• lamin binding Source: Ensembl
• myosin binding Source: MGI
• nitric-oxide synthase binding Source: BHF-UCLInferred from physical interactionⁱ
  • 7545544
• PDZ domain binding Source: Ensembl
• vinculin binding Source: MGI

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structureⁱ

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsⁱ

Domains and Repeats

Region

Zinc finger

Keywords - Domainⁱ

Phylogenomic databases

Family and domain databases

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)ⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusⁱ: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

        10         20         30         40         50
MLWWEEVEDC YEREDVQKKT FTKWINAQFS KFGKQHIDNL FSDLQDGKRL 
        60         70         80         90        100
LDLLEGLTGQ KLPKEKGSTR VHALNNVNKA LRVLQKNNVD LVNIGSTDIV 
       110        120        130        140        150
DGNHKLTLGL IWNIILHWQV KNVMKTIMAG LQQTNSEKIL LSWVRQSTRN 
       160        170        180        190        200
YPQVNVINFT SSWSDGLALN ALIHSHRPDL FDWNSVVSQH SATQRLEHAF 
       210        220        230        240        250
NIAKCQLGIE KLLDPEDVAT TYPDKKSILM YITSLFQVLP QQVSIEAIQE 
       260        270        280        290        300
VEMLPRTSSK VTREEHFQLH HQMHYSQQIT VSLAQGYEQT SSSPKPRFKS 
       310        320        330        340        350
YAFTQAAYVA TSDSTQSPYP SQHLEAPRDK SLDSSLMETE VNLDSYQTAL 
       360        370        380        390        400
EEVLSWLLSA EDTLRAQGEI SNDVEEVKEQ FHAHEGFMMD LTSHQGLVGN 
       410        420        430        440        450
VLQLGSQLVG KGKLSEDEEA EVQEQMNLLN SRWECLRVAS MEKQSKLHKV 
       460        470        480        490        500
LMDLQNQKLK ELDDWLTKTE ERTKKMEEEP FGPDLEDLKC QVQQHKVLQE 
       510        520        530        540        550
DLEQEQVRVN SLTHMVVVVD ESSGDHATAA LEEQLKVLGD RWANICRWTE 
       560        570        580        590        600
DRWIVLQDIL LKWQHFTEEQ CLFSTWLSEK EDAMKNIQTS GFKDQNEMMS 
       610        620        630        640        650
SLHKISTLKI DLEKKKPTME KLSSLNQDLL SALKNKSVTQ KMEIWMENFA 
       660        670        680        690        700
QRWDNLTQKL EKSSAQISQA VTTTQPSLTQ TTVMETVTMV TTREQIMVKH 
       710        720        730        740        750
AQEELPPPPP QKKRQITVDS ELRKRLDVDI TELHSWITRS EAVLQSSEFA 
       760        770        780        790        800
VYRKEGNISD LQEKVNAIAR EKAEKFRKLQ DASRSAQALV EQMANEGVNA 
       810        820        830        840        850
ESIRQASEQL NSRWTEFCQL LSERVNWLEY QTNIITFYNQ LQQLEQMTTT 
       860        870        880        890        900
AENLLKTQST TLSEPTAIKS QLKICKDEVN RLSALQPQIE QLKIQSLQLK 
       910        920        930        940        950
EKGQGPMFLD ADFVAFTNHF NHIFDGVRAK EKELQTIFDT LPPMRYQETM 
       960        970        980        990       1000
SSIRTWIQQS ESKLSVPYLS VTEYEIMEER LGKLQALQSS LKEQQNGFNY 
      1010       1020       1030       1040       1050
LSDTVKEMAK KAPSEICQKY LSEFEEIEGH WKKLSSQLVE SCQKLEEHMN 
      1060       1070       1080       1090       1100
KLRKFQNHIK TLQKWMAEVD VFLKEEWPAL GDAEILKKQL KQCRLLVGDI 
      1110       1120       1130       1140       1150
QTIQPSLNSV NEGGQKIKSE AELEFASRLE TELRELNTQW DHICRQVYTR 
      1160       1170       1180       1190       1200
KEALKAGLDK TVSLQKDLSE MHEWMTQAEE EYLERDFEYK TPDELQTAVE 
      1210       1220       1230       1240       1250
EMKRAKEEAL QKETKVKLLT ETVNSVIAHA PPSAQEALKK ELETLTTNYQ 
      1260       1270       1280       1290       1300
WLCTRLNGKC KTLEEVWACW HELLSYLEKA NKWLNEVELK LKTMENVPAG 
      1310       1320       1330       1340       1350
PEEITEVLES LENLMHHSEE NPNQIRLLAQ TLTDGGVMDE LINEELETFN 
      1360       1370       1380       1390       1400
SRWRELHEEA VRKQKLLEQS IQSAQEIEKS LHLIQESLEF IDKQLAAYIT 
      1410       1420       1430       1440       1450
DKVDAAQMPQ EAQKIQSDLT SHEISLEEMK KHNQGKDANQ RVLSQIDVAQ 
      1460       1470       1480       1490       1500
KKLQDVSMKF RLFQKPANFE QRLEESKMIL DEVKMHLPAL ETKSVEQEVI 
      1510       1520       1530       1540       1550
QSQLSHCVNL YKSLSEVKSE VEMVIKTGRQ IVQKKQTENP KELDERVTAL 
      1560       1570       1580       1590       1600
KLHYNELGAK VTERKQQLEK CLKLSRKMRK EMNVLTEWLA ATDTELTKRS 
      1610       1620       1630       1640       1650
AVEGMPSNLD SEVAWGKATQ KEIEKQKAHL KSVTELGESL KMVLGKKETL 
      1660       1670       1680       1690       1700
VEDKLSLLNS NWIAVTSRVE EWLNLLLEYQ KHMETFDQNI EQITKWIIHA 
      1710       1720       1730       1740       1750
DELLDESEKK KPQQKEDILK RLKAEMNDMR PKVDSTRDQA AKLMANRGDH 
      1760       1770       1780       1790       1800
CRKVVEPQIS ELNRRFAAIS HRIKTGKASI PLKELEQFNS DIQKLLEPLE 
      1810       1820       1830       1840       1850
AEIQQGVNLK EEDFNKDMSE DNEGTVNELL QRGDNLQQRI TDERKREEIK 
      1860       1870       1880       1890       1900
IKQQLLQTKH NALKDLRSQR RKKALEISHQ WYQYKRQADD LLKCLDEIEK 
      1910       1920       1930       1940       1950
KLASLPEPRD ERKLKEIDRE LQKKKEELNA VRRQAEGLSE NGAAMAVEPT 
      1960       1970       1980       1990       2000
QIQLSKRWRQ IESNFAQFRR LNFAQIHTLH EETMVVTTED MPLDVSYVPS 
      2010       2020       2030       2040       2050
TYLTEISHIL QALSEVDHLL NTPELCAKDF EDLFKQEESL KNIKDNLQQI 
      2060       2070       2080       2090       2100
SGRIDIIHKK KTAALQSATS MEKVKVQEAV AQMDFQGEKL HRMYKERQGR 
      2110       2120       2130       2140       2150
FDRSVEKWRH FHYDMKVFNQ WLNEVEQFFK KTQNPENWEH AKYKWYLKEL 
      2160       2170       2180       2190       2200
QDGIGQRQAV VRTLNATGEE IIQQSSKTDV NILQEKLGSL SLRWHDICKE 
      2210       2220       2230       2240       2250
LAERRKRIEE QKNVLSEFQR DLNEFVLWLE EADNIAITPL GDEQQLKEQL 
      2260       2270       2280       2290       2300
EQVKLLAEEL PLRQGILKQL NETGGAVLVS APIRPEEQDK LEKKLKQTNL 
      2310       2320       2330       2340       2350
QWIKVSRALP EKQGELEVHL KDFRQLEEQL DHLLLWLSPI RNQLEIYNQP 
      2360       2370       2380       2390       2400
SQAGPFDIKE IEVTVHGKQA DVERLLSKGQ HLYKEKPSTQ PVKRKLEDLR 
      2410       2420       2430       2440       2450
SEWEAVNHLL RELRTKQPDR APGLSTTGAS ASQTVTLVTQ SVVTKETVIS 
      2460       2470       2480       2490       2500
KLEMPSSLLL EVPALADFNR AWTELTDWLS LLDRVIKSQR VMVGDLEDIN 
      2510       2520       2530       2540       2550
EMIIKQKATL QDLEQRRPQL EELITAAQNL KNKTSNQEAR TIITDRIERI 
      2560       2570       2580       2590       2600
QIQWDEVQEQ LQNRRQQLNE MLKDSTQWLE AKEEAEQVIG QVRGKLDSWK 
      2610       2620       2630       2640       2650
EGPHTVDAIQ KKITETKQLA KDLRQRQISV DVANDLALKL LRDYSADDTR 
      2660       2670       2680       2690       2700
KVHMITENIN TSWGNIHKRV SEQEAALEET HRLLQQFPLD LEKFLSWITE 
      2710       2720       2730       2740       2750
AETTANVLQD ASRKEKLLED SRGVRELMKP WQDLQGEIET HTDIYHNLDE 
      2760       2770       2780       2790       2800
NGQKILRSLE GSDEAPLLQR RLDNMNFKWS ELQKKSLNIR SHLEASSDQW 
      2810       2820       2830       2840       2850
KRLHLSLQEL LVWLQLKDDE LSRQAPIGGD FPAVQKQNDI HRAFKRELKT 
      2860       2870       2880       2890       2900
KEPVIMSTLE TVRIFLTEQP LEGLEKLYQE PRELPPEERA QNVTRLLRKQ 
      2910       2920       2930       2940       2950
AEEVNAEWDK LNLRSADWQR KIDEALERLQ ELQEAADELD LKLRQAEVIK 
      2960       2970       2980       2990       3000
GSWQPVGDLL IDSLQDHLEK VKALRGEIAP LKENVNRVND LAHQLTTLGI 
      3010       3020       3030       3040       3050
QLSPYNLSTL EDLNTRWRLL QVAVEDRVRQ LHEAHRDFGP ASQHFLSTSV 
      3060       3070       3080       3090       3100
QGPWERAISP NKVPYYINHE TQTTCWDHPK MTELYQSLAD LNNVRFSAYR 
      3110       3120       3130       3140       3150
TAMKLRRLQK ALCLDLLSLS AACDALDQHN LKQNDQPMDI LQIINCLTTI 
      3160       3170       3180       3190       3200
YDRLEQEHNN LVNVPLCVDM CLNWLLNVYD TGRTGRIRVL SFKTGIISLC 
      3210       3220       3230       3240       3250
KAHLEDKYRY LFKQVASSTG FCDQRRLGLL LHDSIQIPRQ LGEVASFGGS 
      3260       3270       3280       3290       3300
NIEPSVRSCF QFANNKPEIE AALFLDWMRL EPQSMVWLPV LHRVAAAETA 
      3310       3320       3330       3340       3350
KHQAKCNICK ECPIIGFRYR SLKHFNYDIC QSCFFSGRVA KGHKMHYPMV 
      3360       3370       3380       3390       3400
EYCTPTTSGE DVRDFAKVLK NKFRTKRYFA KHPRMGYLPV QTVLEGDNME 
      3410       3420       3430       3440       3450
TPVTLINFWP VDSAPASSPQ LSHDDTHSRI EHYASRLAEM ENSNGSYLND 
      3460       3470       3480       3490       3500
SISPNESIDD EHLLIQHYCQ SLNQDSPLSQ PRSPAQILIS LESEERGELE 
      3510       3520       3530       3540       3550
RILADLEEEN RNLQAEYDRL KQQHEHKGLS PLPSPPEMMP TSPQSPRDAE 
      3560       3570       3580       3590       3600
LIAEAKLLRQ HKGRLEARMQ ILEDHNKQLE SQLHRLRQLL EQPQAEAKVN 
      3610       3620       3630       3640       3650
GTTVSSPSTS LQRSDSSQPM LLRVVGSQTS ESMGEEDLLS PPQDTSTGLE 
      3660       3670 
EVMEQLNNSF PSSRGRNAPG KPMREDTM                         

Experimental Info

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityⁱ

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsⁱ

• 90% Identity
• 50% Identity

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesⁱ

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationⁱ

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousⁱ

Keywords - Technical termⁱ

Documents

1. MGD cross-references
   Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot