Basic Information | Overview of PTM Sites | Experimental PTM Sites | Protein-Protein Interactions | Drug and Disease Associations | Related Literatures
Basic Information
Protein Name :  Dysferlin  

UniProtKB / Swiss-Prot ID :  DYSF_HUMAN

Gene Name (Synonyms) : 
DYSF, FER1L1  

Species :  Homo sapiens (Human). 

Subcellular Localization :  Cell membrane, sarcolemma; Single-pass type II membrane protein. Cytoplasmic vesicle membrane; Single-pass type II membrane protein (By similarity). Note=Colocalizes, during muscle differentiation, with BIN1 in the T-tubule system of myotubules and at th 

Protein Function :  Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress (By similarity). 

Transmembrane Topology (topPTM) : DYSF_HUMAN 

Protein Sequence MLRVFILYAENVHTPDTDISDAYCSAVFAGVKKRTKVIKNSVNPVWNEGFEWDLKGIPLDQGSELHVVVK...
Predicted Secondary Structure CEEEEEEEECCCCCCCCCCCCCEEEEEECCEEEEEEEEECCCCCEECCEEEEEECCCCCCCCCEEEEEEE...
Protein Variant
LocationDescription
52W -> R (in LGMD2B). VAR_057834
67V -> D (in MMD1 and LGMD2B; Reducescalcium-sensitive phospholipid binding
84A -> V. VAR_057836
155G -> R (in LGMD2B). VAR_057837
170A -> E (in MMD1, LGMD2B and isolatedhyperCKemia; dbSNP:rs34999029).
189L -> V (in dbSNP:rs13407355). VAR_024854
234G -> E (in LGMD2B). VAR_057838
253R -> W (in isolated hyperCKemia). VAR_024855
266L -> P (in pseudometabolic myopathy). VAR_024856
284I -> T (in LGMD2B). VAR_057839
299G -> E (in MMD1). VAR_024857
299G -> R (in LGMD2B and proximodistalmyopathy).
299G -> W (in MMD1). VAR_057841
335G -> A. VAR_057842
340S -> R (in proximodistal myopathy). VAR_057843
374V -> L (in MMD1; uncertainpathogenicity).
386FRAED -> Y (in MMD1). VAR_057845
389E -> Q (in MMD1). VAR_057846
390D -> N. VAR_057847
426G -> R (in MMD1). VAR_057848
426G -> V (in MMD1). VAR_057849
456C -> W (in MMD1). VAR_024858
519G -> R (in MMD1). VAR_057850
555R -> W (in isolated hyperCKemia, LGMD2Band MMD1).
618G -> R (in MMD1 and LGMD2B). VAR_057851
621G -> R (in LGMD2B). VAR_057852
625D -> Y (in LGMD2B). VAR_057853
731P -> R (in LGMD2B). VAR_057854
791P -> R (in MMD1 and LGMD2B). VAR_012308
819R -> Q. VAR_057855
834I -> V (in dbSNP:rs34671418). VAR_049055
930W -> C (in LGMD2B; uncetainpathogenicity).
959R -> W (in MMD1 and LGMD2B). VAR_024860
999W -> C (in MMD1; dbSNP:rs28937581). VAR_057857
1022R -> Q (in LGMD2B; uncertainpathogenicity; dbSNP:rs34211915).
1029P -> L (in MMD1). VAR_057858
1038R -> Q (in LGMD2B; uncertainpathogenicity).
1041R -> C (in MMD1). VAR_057859
1046R -> H (in MMD1; dbNP:28939700;dbSNP:rs28939700).
1065E -> EAE. VAR_024864
1072A -> P (in dbSNP:rs34660230). VAR_049056
1096R -> H (in dbSNP:rs59915619). VAR_061170
1208I -> M (in LGMD2B). VAR_024865
1228L -> P (in LGMD2B). VAR_057860
1242R -> H (in dbSNP:rs2303603). VAR_020308
1276L -> V (in proximodistal myopathy). VAR_024866
1298I -> V (in MMD1 and LGMD2B). VAR_012309
1325I -> M (in a breast cancer sample;somatic mutation).
1325I -> V. VAR_057861
1331R -> L (in dbSNP:rs61742872). VAR_024867
1335E -> K (in MMD1 and LGMD2B). VAR_024868
1341L -> P (in LGMD2B). VAR_057862
1349L -> V (in a breast cancer sample;somatic mutation).
1351N -> S. VAR_024869
1361C -> R (in MMD1). VAR_057863
1505Y -> C (in LGMD2B). VAR_057864
1526K -> T (in LGMD2B). VAR_057865
1543G -> D (in LGMD2B). VAR_057866
1581R -> H. VAR_057867
1662T -> R (in MMD1). VAR_057868
1678C -> S (in isolated hyperCKemia). VAR_057869
1679G -> E (in MMD1). VAR_057870
1693R -> Q (in MMD1). VAR_024870
1693R -> W (in MMD1). VAR_057871
1734E -> G (in LGMD2B). VAR_057872
1748E -> V (in proximodistal myopathy). VAR_024871
1768R -> W (in LGMD2B and proximodistalmyopathy; uncetain pathogenicity).
1837D -> N (in MMD1). VAR_057874
1842G -> D (in MMD1). VAR_057875
1857H -> R (in MMD1). VAR_012310
1922L -> P (in MMD1). VAR_057876
1938Missing (in MMD1). VAR_057877
1942C -> G (in MMD1). VAR_057878
1967G -> S. VAR_057879
1970P -> S (in LGMD2B). VAR_057880
2000R -> Q (in MMD1). VAR_024872
2042R -> C (in MMD1, LGMD2B and proximodistalmyopathy).
2068P -> L (in MMD1). VAR_057881
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Overview of Protein Modification Sites with Functional and Structural Information
Accessible Surface Area (ASA)
Pred. Secondary
Real Secondary
Disorder Prediction
Protein Domain
&
Experimental PTM Sites
Predicted PTM Sites
Protein Variant
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Experimental Post-Translational Modification Sites Download
Locations
Modification
Substrate Sites
&
Secondary Structure
Accessible Surface Area (%)
Resource
Reference
Structural Characterization
Orthologous
Protein Cluster
94PhosphothreonineEVLATPSLS
HHCCCCCEE
14.84HPRD
Link-
94PhosphothreonineEVLATPSLS
HHCCCCCEE
14.84SysPTM
Link-
96PhosphoserineLATPSLSAS
CCCCCEEEE
30.51HPRD
Link-
96PhosphoserineLATPSLSAS
CCCCCEEEE
30.51SysPTM
Link-
100PhosphoserineSLSASFNAP
CEEEEEEEE
18.69PhosphoELM
Link-
177PhosphoserineFLDQSGGPG
HHHCCCCCC
45.44HPRD
Link-
177PhosphoserineFLDQSGGPG
HHHCCCCCC
45.44Phosphositeplus
Link-
437PhosphothreonineILEKTANPQ
EEECCCCCE
23.45Phosphositeplus
Link-
437Phosphothreonine.ILEKTANPQ
EEECCCCCE
23.45UniProtKB
Link-
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Protein-Protein Interactions
      Interacting Protein      
Interaction type
Source ID
      Resource      
      Pubmed ID      
Domain-Domain Interactions
ANXA1_HUMANin vitroHPRD:04307HPRD14506282
ANXA2_HUMANin vitroHPRD:04307HPRD14506282
CAV3_HUMANin vitro
in vivo
HPRD:04307HPRD11532985
SGCG_HUMANENSP00000258104STRING
ANXA1_HUMANENSP00000258104STRING
SGCA_HUMANENSP00000258104STRING
GANC_HUMANENSP00000258104STRING
CAV3_HUMANENSP00000258104STRING
SGCD_HUMANENSP00000258104STRING
DMD_HUMANENSP00000258104STRING
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Disease Reference
Kegg disease
H00566 Dysferlinopathies, including: Miyoshi myopathy (MM); Limb-girdle muscular dystrophy (LGMD) 2B; Dista
H00593 Limb-girdle muscular dystrophy (LGMD)
H00594 Distal muscular dystrophies, including: Welander distal myopathy (WDM); Tibial muscular dystrophy (T
OMIM disease
253601Limb-girdle muscular dystrophy 2B (LGMD2B)
254130Miyoshi muscular dystrophy 1 (MMD1)
606768Distal myopathy with anterior tibial onset (DMAT)
Drug Reference
There are no disease associations of PTM sites.
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Related Literatures of Post-Translational Modification
Phosphorylation
ReferencePubMed
"Automated phosphoproteome analysis for cultured cancer cells by two-dimensional nanoLC-MS using a calcined titania/C18 biphasic column.";
Imami K., Sugiyama N., Kyono Y., Tomita M., Ishihama Y.;
Anal. Sci. 24:161-166(2008).
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-437, AND MASSSPECTROMETRY.
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Basic Information | Overview of PTM Sites | Experimental PTM Sites | Protein-Protein Interactions | Drug and Disease Associations | Related Literatures