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> Protein (NX_O75923)
Protein (NX_O75923)
Protein
Gene SymbolDYSF to neXtProt (NX_O75923)
DescriptionDysferlin
Chromosome2
Location2p13.2 (71680852 ~ 71913898) to Ensembl
Sequene Features : Isoforms 15, Variants 473, PTMsto neXtProt Sequence Features
Gene
Ontologies
GO: Biological Process GO: Mulecular Function GO: Cellular Component
.vesicle fusion
.plasma membrane repair
.calcium-dependent phospholipid binding
.phospholipid binding
.calcium ion binding
.extracellular exosome
.sarcolemma
.cytoplasmic vesicle membrane
  + 8 more...
Proteomic Evidences
ReleaseProtein EvidencePrAbIsoformsVariantsPTMs
2015-01-01protein level
15 473 2
2014-09-19protein level
15 370 2
2014-05-27protein level
15 370 2
2014-02-25protein level
15 366 2
2013-12-09protein level
15 309 2
2013-11-01protein level
15 292 2
2013-09-12protein level
15 292 2
2013-08-17protein level
15 292 2
2013-07-15protein level
15 225 2
2013-06-11protein level
15 225 2
2013-02-12protein level
15 152 27
2012-12-20protein level
15 153 27
2012-10-30protein level
15 161 27
2012-10-07protein level
15 161 3
2012-08-24protein level
15 158 3
2012-07-28protein level
15 158 3
2012-06-08protein level
15 78 3
2012-05-07protein level
15 78 3
2012-04-10protein level
15 78 3
2012-01-13protein level
15 78 3
2011-12-20protein level
15 78 3
2011-11-11protein level
15 78 3
2011-08-23protein level
15 78 3
Protein Isoforms
Isoform Ac UGSMw (Da)
NX_O75923-1
0 91 2 237143.4999
NX_O75923-10
0 93 2 239230.6999
NX_O75923-11
0 94 2 239200.6255
NX_O75923-12
0 92 2 237850.0153
NX_O75923-13
0 94 2 241201.6002
NX_O75923-14
0 93 2 237229.7252
NX_O75923-15
2 85 1 222173.5997
NX_O75923-2
0 93 2 240495.0848
NX_O75923-3
0 90 2 235762.8153
NX_O75923-4
0 91 2 239144.4746
NX_O75923-5
0 92 2 239114.4002
NX_O75923-6
0 90 2 237763.79
NX_O75923-7
0 92 2 241115.3749
NX_O75923-8
0 95 2 240581.3101
NX_O75923-9
0 92 2 235849.0406
: Uniquely mapped peptide
: Gene-specific peptide
: Shared peptide
Interacting Partners
No. Exp. ref. Symbol   PE Pr Ab Di   GO: Biological Process GO: Mulecular Function GO: Cellular Component
1 EBI-2799016,EBI-1053164 DNAJB6  
  .regulation of cellular response to heat
.negative regulation of inclusion body assembly
.chorion development
  + 11 more...
.chaperone binding
.unfolded protein binding
.heat shock protein binding
  + 2 more...
.perinuclear region of cytoplasm
.Z disc
.membrane
  + 4 more...
2 EBI-2799016,EBI-296723 SNAPIN  
  .positive regulation of late endosome to lysosome transport
.autophagic vacuole maturation
.terminal button organization
  + 14 more...
.SNARE binding .perinuclear region of cytoplasm
.synapse
.BLOC-1 complex
  + 9 more...
3 EBI-2799016,EBI-1055572 DES  
  .muscle filament sliding
.regulation of heart contraction
.cytoskeleton organization
.muscle contraction
.identical protein binding
.cytoskeletal protein binding
.structural constituent of cytoskeleton
.extracellular exosome
.sarcolemma
.neuromuscular junction
  + 4 more...
4 EBI-2799016,EBI-1049657 NEB  
  .regulation of actin filament length
.muscle filament sliding
.somatic muscle development
.muscle organ development
.structural constituent of muscle .extracellular exosome
.Z disc
.actin cytoskeleton
.cytosol
5 EBI-2799016,EBI-77797 ACTN2  
  .negative regulation of protein localization to cell surface
.positive regulation of potassium ion transmembrane transporter activity
.negative regulation of potassium ion transmembrane transporter activity
  + 13 more...
.titin Z domain binding
.FATZ binding
.protein dimerization activity
  + 8 more...
.extracellular exosome
.dendritic spine
.pseudopodium
  + 9 more...
6 EBI-2799016,EBI-5353249 MYOM1  
  .activation of mitophagy in response to mitochondrial depolarization
.muscle contraction
.positive regulation of defense response to virus by host
.protein homodimerization activity
.identical protein binding
.structural constituent of muscle
.M band
.striated muscle myosin thick filament
7 EBI-2799016,EBI-5357134 MYOM2  
  .muscle contraction .structural constituent of muscle .myosin filament
.M band
.mitochondrion
8 EBI-2799016,EBI-5652924 MYBPC1  
  .positive regulation of protein targeting to mitochondrion
.muscle filament sliding
.cell adhesion
.titin binding
.structural constituent of muscle
.myosin filament
.myofibril
.cytosol
9 EBI-2799016,EBI-5357343 SGCG  
  .membrane organization
.heart contraction
.muscle cell development
  + 2 more...
.N/A .sarcolemma
.integral component of membrane
.sarcoglycan complex
  + 3 more...
10 EBI-2799016,EBI-489954 FLNC  
  .muscle fiber development
.cell junction assembly
.ankyrin binding
.cytoskeletal protein binding
.costamere
.sarcolemma
.Z disc
  + 6 more...
11 EBI-2799016,EBI-719333 DGKD  
  .protein homooligomerization
.diacylglycerol metabolic process
.platelet activation
  + 10 more...
.protein heterodimerization activity
.metal ion binding
.protein homodimerization activity
  + 4 more...
.cytoplasmic membrane-bounded vesicle
.plasma membrane
.cytoplasm
12 EBI-2799016,EBI-2323272 CMYA5  
  .negative regulation of calcineurin-NFAT signaling cascade
.negative regulation of protein phosphatase type 2B activity
.regulation of skeletal muscle adaptation
.N/A .perinuclear region of cytoplasm
.costamere
.M band
13 EBI-2799016,EBI-308651 ALMS1  
  .regulation of stress fiber assembly
.endosomal transport
.organelle organization
  + 2 more...
.N/A .cilium
.cytosol
.centrosome
  + 4 more...
14 EBI-2799016,EBI-681210 TTN  
  .cardiac muscle contraction
.cardiac muscle tissue morphogenesis
.cardiac myofibril assembly
  + 18 more...
.structural molecule activity conferring elasticity
.muscle alpha-actinin binding
.actin filament binding
  + 13 more...
.extracellular exosome
.I band
.M band
  + 5 more...
15 EBI-2799016,EBI-748974 OPTN  
  .Golgi ribbon formation
.defense response to Gram-negative bacterium
.negative regulation of I-kappaB kinase/NF-kappaB signaling
  + 10 more...
.K63-linked polyubiquitin binding
.identical protein binding
.polyubiquitin binding
  + 2 more...
.recycling endosome
.perinuclear region of cytoplasm
.cytoplasmic membrane-bounded vesicle
  + 8 more...
16 EBI-2799016,EBI-741243 APPL1  
  .extrinsic apoptotic signaling pathway in absence of ligand
.extrinsic apoptotic signaling pathway
.regulation of establishment of protein localization to plasma membrane
  + 7 more...
.protein kinase B binding
.identical protein binding
.extracellular exosome
.early endosome membrane
.vesicle membrane
  + 4 more...
17 EBI-2799016,EBI-1054601 SAMHD1  
  .type I interferon signaling pathway
.defense response to virus
.protein homotetramerization
  + 5 more...
.dGTP binding
.dGTPase activity
.zinc ion binding
  + 2 more...
.plasma membrane
.nucleoplasm
.nucleus
.intracellular
EST expression level of Protein Coding Gene (ref. NCBI UniGene EST)
Body Sites
TissuesTPM*
adrenal gland30
bladder33
blood196
bone marrow82
brain63
connective tissue6
embryonic tissue4
eye19
heart22
intestine12
kidney23
larynx42
liver43
lung29
mammary gland59
mouth75
muscle56
nerve64
pancreas18
placenta130
prostate15
skin4
spleen187
stomach10
testis22
thymus150
thyroid85
umbilical cord3487
uterus8
vascular38
Health State
TissuesTPM*
normal61
adrenal tumor79
bladder carcinoma56
breast (mammary gland) tumor53
colorectal tumor8
gastrointestinal tumor8
germ cell tumor30
head and neck tumor67
kidney tumor14
leukemia222
liver tumor72
lung tumor38
non-neoplasia10
pancreatic tumor9
skin tumor7
soft tissue/muscle tissue tumor23
uterine tumor11
Developmental Stage
TissuesTPM*
adult60
blastocyst16
neonate708
fetus68
juvenile17
TPM*: Transcripts per million; transcript expression level measured by expression sequence tags.
Expression level of Protein (ref. Human Protein Atlas)
RNA-Seq.
TissuesFPKM
adipose tissue11.9
adrenal gland2.7
appendix13.7
bone marrow25.8
cerebral cortex9.3
colon4.1
duodenum2.8
esophagus9.6
gallbladder6.7
heart muscle18.5
kidney6.5
liver7.4
lung11.5
lymph node7
ovary1.4
placenta25.9
prostate5.1
skin2.1
small intestine2.8
spleen30
stomach1.9
testis3.6
thyroid gland7.2
urinary bladder10.2
Tissues
TissuesExpression level
bone marrowMedium
colonMedium
heart muscleMedium
kidneyHigh
placentaHigh
skeletal muscleHigh
smooth muscleLow
spleenMedium
testisMedium
Cancer
TumorNumber of patients and Staining levels
breast cancer
carcinoid
cervical cancer
colorectal cancer
endometrial cancer
glioma
head and neck cancer
liver cancer
lung cancer
lymphoma
melanoma
ovarian cancer
pancreatic cancer
prostate cancer
renal cancer
skin cancer
stomach cancer
testis cancer
thyroid cancer
urothelial cancer
RNA-seq colour codes
Highly expressed RNAs (FPKM >50)
Moderately expressed RNAs (50> FPKM >10)
Lower expressed RNAs (10> FPKM >1)
The lowest expressed RNAs (FPKM value of 0 or 1)
Expression level colour codes
Highly expressed protein
Moderately expressed protein
Lower expressed protein
Staining level colour codes
Highly expressed protein
Moderately expressed protein
Lower expressed protein
Not Detected
Disease
No.Disease DescriptionRef.
1(#253601, phenotype) Muscular dystrophy, limb-girdle, type 2b; LGMD2BOMIM
2(#254130, phenotype) Miyoshi muscular dystrophy 1; MMD1OMIM
3(*603009, gene) Dysferlin; DYSFOMIM
4(#606768, phenotype) Myopathy, distal, with anterior tibial onset; DMATOMIM


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2014-2019 (C) Yonsei Proteome Research Center