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DYSF and ANKRD1
Data Source:
BioGRID
(two hybrid)
DYSF
ANKRD1
Description
dysferlin
ankyrin repeat domain 1
Image
No pdb structure
GO Annotations
Cellular Component
Endosome
Early Endosome
Late Endosome
Plasma Membrane
Integral Component Of Membrane
Endocytic Vesicle
T-tubule
Cytoplasmic Vesicle Membrane
Cytoplasmic Vesicle
Centriolar Satellite
Sarcolemma
Extracellular Exosome
Fibrillar Center
Nucleus
Nucleoplasm
Transcription Regulator Complex
Cytoplasm
Cytosol
I Band
Molecular Function
Calcium Ion Binding
Protein Binding
Phospholipid Binding
Calcium-dependent Phospholipid Binding
RNA Polymerase II Transcription Factor Binding
P53 Binding
DNA Binding
Transcription Coactivator Activity
Transcription Corepressor Activity
Protein Binding
Titin Binding
Histone Deacetylase Binding
RNA Polymerase II-specific DNA-binding Transcription Factor Binding
R-SMAD Binding
Biological Process
Plasma Membrane Repair
Monocyte Activation Involved In Immune Response
Macrophage Activation Involved In Immune Response
Vesicle Fusion
Muscle Contraction
Plasma Membrane Organization
T-tubule Organization
Negative Regulation Of Phagocytosis
Membrane Fusion
Negative Regulation Of Transcription By RNA Polymerase II
Regulation Of Transcription By RNA Polymerase II
Positive Regulation Of Neuron Projection Development
Regulation Of Lipid Metabolic Process
Cellular Response To Drug
Skeletal Muscle Cell Differentiation
Response To Muscle Stretch
Positive Regulation Of Apoptotic Process
Positive Regulation Of DNA Damage Response, Signal Transduction By P53 Class Mediator
Sarcomere Organization
Positive Regulation Of Transcription, DNA-templated
Positive Regulation Of Protein Secretion
Cardiac Muscle Tissue Morphogenesis
Protein Kinase C Signaling
Cellular Response To Lipopolysaccharide
Cellular Response To Mechanical Stimulus
Cellular Response To Interleukin-1
Cellular Response To Tumor Necrosis Factor
Cellular Response To Organic Cyclic Compound
Cellular Response To Hypoxia
Cellular Response To Transforming Growth Factor Beta Stimulus
Negative Regulation Of DNA Biosynthetic Process
Pathways
Smooth Muscle Contraction
Smooth Muscle Contraction
PPARA activates gene expression
Drugs
Diseases
Distal muscular dystrophies, including: Welander distal myopathy (WDM); Tibial muscular dystrophy (TMD); Nonaka distal myopathy with rimmed vacuoles (DMRV); Miyoshi myopathy (MM); Laing myopathy (MPD1); Distal nebulin myopathy (DNM); Distal desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Distal myotilinopathy (MFM3); Distal zaspopathy (MFM4); Distal myopathy 3 (MPD2, VCPDM)
Dysferlinopathies, including: Miyoshi myopathy (MM); Limb-girdle muscular dystrophy (LGMD) 2B; Distal myopathy with anterior tibial onset (DMAT)
Limb-girdle muscular dystrophy (LGMD)
GWAS
Asthma (
32296059
)
Extremely high intelligence (
29520040
)
General cognitive ability (
29844566
)
Hip circumference adjusted for BMI (
28552196
)
Nonalcoholic steatohepatitis-derived hepatocellular carcinoma (
29385134
)
PR interval in Tripanosoma cruzi seropositivity (
24324551
)
Protein quantitative trait loci (
18464913
)
Urate levels in overweight individuals (
25811787
)
Electrocardiogram morphology (amplitude at temporal datapoints) (
32916098
)
Intraocular pressure (
29617998
)
Refractive error (
32231278
)
Interacting Genes
40 interacting genes:
AKAP1
ANKRD1
ANXA1
ANXA2
APPL1
CAPN3
CAV3
CMYA5
COL12A1
COL6A3
DGKD
DHX15
DNAJB6
EEF1A1
EEF1G
FAM120A
GNL3
KARS1
KIF1B
MORF4L1
MYBPC1
MYBPC2
MYH3
MYOM1
MYOM2
NPHP3
OPTN
OS9
PHF1
PLP1
RNF10
RNF2
SAMHD1
SGCG
SLC12A6
SNAPIN
TAF1
XIRP2
XRCC6
ZNF23
23 interacting genes:
APPL1
ARHGDIB
ASH2L
CASQ2
CDCA7L
DNAJB6
DST
DYSF
LRPPRC
MAPRE3
MEOX2
MYBPC1
MYL1
MYOM2
MYPN
NAGK
REPS1
SPANXN2
TRIM55
TRIM63
TTN
TULP3
ZNF446
Entrez ID
8291
27063
HPRD ID
04307
10647
Ensembl ID
ENSG00000135636
ENSG00000148677
Uniprot IDs
O75923
A0A384NYH5
Q15327
PDB IDs
4CAH
4CAI
4IHB
4IQH
Enriched GO Terms of Interacting Partners
?
Tagcloud
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Tagcloud (Difference)
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Tagcloud (Intersection)
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