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Protein Page:
DYSF (human)
p Phosphorylation
a Acetylation
m Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
u Ubiquitination
s Sumoylation
n Neddylation
gl O-GlcNAc
ga O-GalNAc
h Palmitoylation
ad Adenylylation
sn S-Nitrosylation
ca Caspase cleavage

Overview
DYSF 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. Defects in DYSF are the cause of limb-girdle muscular dystrophy type 2B (LGMD2B). LGMD2B is an autosomal recessive degenerative myopathy characterized by weakness and atrophy starting in the proximal pelvifemoral muscles, with onset in the late teens or later, massive elevation of serum creatine kinase levels and slow progression. Scapular muscle involvement is minor and not present at onset. Upper limb girdle involvement follows some years after the onset in lower limbs. Defects in DYSF are the cause of Miyoshi muscular dystrophy type 1 (MMD1). MMD1 is a late-onset muscular dystrophy involving the distal lower limb musculature. It is characterized by weakness that initially affects the gastrocnemius muscle during early adulthood. Otherwise the phenotype overlaps with LGMD2B, especially in age at onset and creatine kinase elevation. Defects in DYSF are the cause of distal myopathy with anterior tibial onset (DMAT). Onset of the disorder is between 14 and 28 years of age and the anterior tibial muscles are the first muscle group to be involved. Inheritance is autosomal recessive. Belongs to the ferlin family. 15 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral; Vesicle protein; Calcium-binding protein
Cellular Component: cytoplasmic vesicle membrane; lamellipodium; T-tubule; integral to membrane; plasma membrane; sarcolemma
Molecular Function: protein binding; calcium-dependent phospholipid binding; phospholipid binding; calcium ion binding
Biological Process: vesicle fusion; plasma membrane repair
Reference #:  O75923 (UniProtKB)
Alt. Names/Synonyms: DYSF; Dysferlin; dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive); dystrophy-associated fer-1-like 1; Dystrophy-associated fer-1-like protein; Fer-1-like protein 1; FER1L1; FLJ00175; FLJ90168; LGMD2B
Gene Symbols: DYSF
Molecular weight: 237,295 Da
Basal Isoelectric point: 5.44  Predict pI for various phosphorylation states
Select Structure to View Below

DYSF

Protein Structure Not Found.


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Modification Sites and Domains Show Modification Legend
Click here to view phosphorylation modifications only

Modification Sites in Parent Protein, Orthologs, and Isoforms Show Modification Legend
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

► Hide Isoforms
 
0 1 E10 RVFILYAENVHTPDT
0 1 T14 LYAENVHTPDTDISD
0 5 Y23-p DTDISDAyCSAVFAG
0 3 - gap
0 2 - gap
0 1 - gap
0 1 T160 DTGGEEDTEDQGLTG
0 3 T166 DTEDQGLTGDEAEPF
0 2 S177-p AEPFLDQsGGPGAPT
0 4 T185-p GGPGAPTtPRKLPSR
0 1 S191 TtPRKLPSRPPPHYP
0 1 K211 RSAPTSRKLLSDKPQ
0 1 K216 SRKLLSDKPQDFQIR
0 1 T249 KVTAAGQTkRTRIHK
0 15 K250-a VTAAGQTkRTRIHKG
0 1 T437-p CSKILEKtANPQWNQ
0 1 K546 YTELNTGKGEGVAYR
0 1 K1057 LSQMEALKRHRQAEA
0 1 Y1319-p PQREANIyMVPQNIK
0 1 T1532-p FKLYRGKtQEETEDP
0 1 K1546 PSVIGEFKGLFKIYP
0 23 K1609-u YIKISIGkKSVSDQD
0 13 Y1648-p KDLKITLyDyDLLSK
0 2 Y1650-p LKITLyDyDLLSKDE
0 1 K1673 LENRLLSKFGARCGL
0 2 K1726 DRVMFQDKEYSIEEI
0 1 S1829 DVILDDLSLTGEKMS
0 1 T1831 ILDDLSLTGEKMSDI
  DYSF iso10  
S10-p CCLLVRAsNLPsAKK
S14-p VRAsNLPsAKKDRRS
- gap
- gap
- gap
- gap
T161 DTGGEEDTEDQGLTG
T167 DTEDQGLTGDEAEPF
S178 AEPFLDQSGGPGAPT
T186 GGPGAPTTPRKLPSR
S192 TTPRKLPSRPPPHYP
K212 RSAPTSRKLLSDKPQ
K217 SRKLLSDKPQDFQIR
T250 KVTAAGQTKRTRIHK
K251 VTAAGQTKRTRIHKG
T438 CSKILEKTANPQWNQ
K547 YTELNTGKGEGVAYR
K1058 LSQMEALKRHRQAEA
Y1320 PQREANIYMVPQNIK
T1554 FKLYRGKTQEETEDP
K1568 PSVIGEFKGLFKIYP
K1631 YIKISIGKKSVSDQD
Y1670 KDLKITLYDYDLLSK
Y1672 LKITLYDYDLLSKDE
K1695 LENRLLSKFGARCGL
K1748 DRVMFQDKEYSIEEI
S1851 DVILDDLSLTGEKMS
T1853 ILDDLSLTGEKMSDI
  DYSF iso11  
S10 CCLLVRASNLPSAKK
S14 VRASNLPSAKKDRRS
- gap
S164-p QSRAETWsLLsDSTM
S167-p AETWsLLsDSTMDTR
T170 WsLLsDSTMDTRYSG
T192 DTGGEEDTEDQGLTG
T198 DTEDQGLTGDEAEPF
S209 AEPFLDQSGGPGAPT
T217 GGPGAPTTPRKLPSR
S223 TTPRKLPSRPPPHYP
K243 RSAPTSRKLLSDKPQ
K248 SRKLLSDKPQDFQIR
T281 KVTAAGQTKRTRIHK
K282 VTAAGQTKRTRIHKG
T469 CSKILEKTANPQWNQ
K564 YTELNTGKGEGVAYR
K1075 LSQMEALKRHRQAEA
Y1337 PQREANIYMVPQNIK
T1550 FKLYRGKTQEETEDP
K1564 PSVIGEFKGLFKIYP
K1627 YIKISIGKKSVSDQD
Y1666 KDLKITLYDYDLLSK
Y1668 LKITLYDYDLLSKDE
K1691 LENRLLSKFGARCGL
K1744 DRVMFQDKEYSIEEI
S1847 DVILDDLSLTGEKMS
T1849 ILDDLSLTGEKMSDI
  mouse

► Hide Isoforms
 
E10 RVFILFAENVHTPDS
T14 LFAENVHTPDSDISD
Y23 DSDISDAYCSAVFAG
- gap
- gap
- gap
T160 DTGGEEDTEDQGLTG
T166 DTEDQGLTGDEAEPF
S177 AEPFLDQSAAVGPGG
T187-p VGPGGPTtPRKPPsH
S193-p TtPRKPPsHPPPHYP
K213-u RSSAPPRkLLSDkPQ
K218-u PRkLLSDkPQDFQIR
T251-p KVTAAGQtKRTRIQK
K252 VTAAGQtKRTRIQKG
T439 CSKILEKTANPQWNQ
K548-u YAELNTGkGEGVAYR
K1067-u LSQMEALkRHRQAEA
Y1329 PQREANIYMVPQNIK
T1542 FKLYRGRTQEETDDP
K1556-u PSVIGEFkGLFKIYP
K1619-u YIKISIGkKSVSDQD
Y1658 KDLKITLYDYDLLSK
Y1660 LKITLYDYDLLSKDE
K1683-u LENRLLSkFGARCGL
K1736-u DRVTFQDkDYTIEEI
S1839 DVILDDLSLTGEKMS
T1841 ILDDLSLTGEKMSDI
  DYSF iso2  
S10 CCLLARASNLPNVKK
N14 ARASNLPNVKKDRRS
- gap
S164-p QSRAETWsLLsDStM
S167-p AETWsLLsDStMDTR
T170-p WsLLsDStMDTRYSG
T192-p DTGGEEDtEDQGLtG
T198-p DtEDQGLtGDEAEPF
S209-p AEPFLDQsAAVGPGG
T219-p VGPGGPTtPRKPPSH
S225 TtPRKPPSHPPPHYP
K245 RSSAPPRKLLSDKPQ
K250 PRKLLSDKPQDFQIR
T283 KVTAAGQTKRTRIQK
K284 VTAAGQTKRTRIQKG
T471 CSKILEKTANPQWNQ
K566 YAELNTGKGEGVAYR
K1077 LSQMEALKRHRQAEA
Y1339 PQREANIYMVPQNIK
T1552 FKLYRGRTQEETDDP
K1566 PSVIGEFKGLFKIYP
K1629 YIKISIGKKSVSDQD
Y1668 KDLKITLYDYDLLSK
Y1670 LKITLYDYDLLSKDE
K1693 LENRLLSKFGARCGL
K1746 DRVTFQDKDYTIEEI
S1849 DVILDDLSLTGEKMS
T1851 ILDDLSLTGEKMSDI
  rat

 
S10 CCLLARASNLPNVKK
N14 ARASNLPNVKKDRRS
- gap
- gap
- gap
- gap
T108 DTGGEEDTEDQGLTG
T114 DTEDQGLTGDEAELF
S125 AELFPDPSVAVGPGG
T135 VGPGGPTTPKKPPSH
S141 TTPKKPPSHPPPHYP
K161 RSSAPPRKLLSDKPQ
K166 PRKLLSDKPQDFQIR
T199 KVTAAGQTKRTRIQK
K200 VTAAGQTKRTRIQKG
T387 CSKILEKTANPQWNQ
K495 YAELNTGKGEGVAYR
K1006 LSQMEALKKHRQAEA
Y1268 PQREANIYMVPQNIK
T1481 FKLYRGKTQEDTEDP
K1495 PSVIGEFKGLFKIYP
K1558 YIKISIGKKSVSDQD
Y1597-p KDLKITLyDYDLLSK
Y1599 LKITLyDYDLLSKDE
K1622 LENRLLSKFGARCGL
K1675 DRVTFQDKEYTIQEI
S1778-p DVILDDLsLtGEKMS
T1780-p ILDDLsLtGEKMSDI
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