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DYSF and APPL1
Data Source:
BioGRID
(affinity chromatography technology, two hybrid, imaging technique)
DYSF
APPL1
Description
dysferlin
adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1
Image
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
Ruffle
Nucleus
Cytoplasm
Endosome
Early Endosome
Cytosol
Plasma Membrane
Endosome Membrane
Vesicle Membrane
Membrane
Cytoplasmic Vesicle
Early Endosome Membrane
Early Phagosome
Macropinosome
Extracellular Exosome
Intracellular Vesicle
Molecular Function
Calcium Ion Binding
Protein Binding
Phospholipid Binding
Calcium-dependent Phospholipid Binding
Phosphatidylserine Binding
Protein Binding
Phosphatidylinositol Binding
Identical Protein Binding
Protein Homodimerization Activity
Protein Kinase B Binding
Protein-containing Complex Binding
Beta-tubulin 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
Protein Import Into Nucleus
Cell Cycle
Signal Transduction
Transforming Growth Factor Beta Receptor Signaling Pathway
Insulin Receptor Signaling Pathway
Regulation Of Fibroblast Migration
Signaling
Adiponectin-activated Signaling Pathway
Regulation Of Toll-like Receptor 4 Signaling Pathway
Cellular Response To Hepatocyte Growth Factor Stimulus
Regulation Of Innate Immune Response
Regulation Of Glucose Import
Positive Regulation Of Glucose Import
Positive Regulation Of Melanin Biosynthetic Process
Extrinsic Apoptotic Signaling Pathway In Absence Of Ligand
Positive Regulation Of Cytokine Production Involved In Inflammatory Response
Regulation Of Protein Localization To Plasma Membrane
Positive Regulation Of Macropinocytosis
Negative Regulation Of Fc-gamma Receptor Signaling Pathway Involved In Phagocytosis
Regulation Of G1/S Transition Of Mitotic Cell Cycle
Pathways
Smooth Muscle Contraction
Smooth Muscle Contraction
Caspase activation via Dependence Receptors in the absence of ligand
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
)
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
64 interacting genes:
ADI1
ADIPOR1
ADIPOR2
AGL
AKT1
AKT2
ANKRD1
APPL2
ATP2A1
BATF3
BIN1
BRWD1
C1QTNF9
CBL
CBLB
CIPC
CMTM4
CTTNBP2
DACT1
DCC
DNM2
DOK2
DOK3
DOK7
DPYSL5
DTNA
DYSF
EGFR
FARS2
FSHR
GPC3
HDAC2
HSPB1
ID1
INO80E
KLF15
KXD1
LUC7L
MAGEA9
MAGEC3
MAP3K1
MEOX1
MTA2
MYCBP2
MYH3
PIK3CA
PIK3R1
PIK3R2
PLEKHF2
PNMA5
RAB21
RAB5A
RBBP7
RHEBL1
RUVBL2
SCAPER
SH2D2A
SOCS6
SPART
TP53
TP53BP2
TRAF2
UBE2O
ZNF829
Entrez ID
8291
26060
HPRD ID
04307
05053
Ensembl ID
ENSG00000135636
ENSG00000157500
Uniprot IDs
O75923
Q9UKG1
PDB IDs
4CAH
4CAI
4IHB
4IQH
2EJ8
2ELA
2ELB
2Q12
2Q13
2Z0N
2Z0O
5C5B
Enriched GO Terms of Interacting Partners
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