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SVIL and ATRX
Data Source:
BioGRID
(two hybrid)
SVIL
ATRX
Description
supervillin
ATRX chromatin remodeler
Image
GO Annotations
Cellular Component
Podosome
Nucleus
Cytoplasm
Cytosol
Plasma Membrane
Focal Adhesion
Actin Cytoskeleton
Midbody
Cleavage Furrow
Microtubule Minus-end
Costamere
Nuclear Chromosome
Condensed Chromosome, Centromeric Region
Chromosome, Telomeric Region
Heterochromatin
Nucleus
Nucleoplasm
Pericentric Heterochromatin
Nuclear Body
PML Body
Chromosome, Subtelomeric Region
Molecular Function
Protein Binding
Phosphatidylinositol-4,5-bisphosphate Binding
Actin Filament Binding
DNA Binding
DNA Helicase Activity
Chromatin Binding
Protein Binding
ATP Binding
DNA Translocase Activity
Methylated Histone Binding
Histone Binding
Metal Ion Binding
Chromo Shadow Domain Binding
Biological Process
Skeletal Muscle Tissue Development
Actin Polymerization Or Depolymerization
Positive Regulation Of Cytokinesis
Actin Filament Severing
Barbed-end Actin Filament Capping
Meiotic Spindle Organization
DNA Repair
DNA Methylation
Nucleosome Assembly
DNA Replication-independent Nucleosome Assembly
Chromatin Remodeling
Regulation Of Transcription, DNA-templated
Spermatogenesis
Positive Regulation Of Nuclear Cell Cycle DNA Replication
DNA Damage Response, Signal Transduction By P53 Class Mediator
Forebrain Development
Replication Fork Processing
Positive Regulation Of Telomere Maintenance
DNA Duplex Unwinding
Post-embryonic Forelimb Morphogenesis
Multicellular Organism Growth
Positive Regulation Of Transcription By RNA Polymerase II
Sertoli Cell Development
Chromosome Organization Involved In Meiotic Cell Cycle
Protein Localization To Chromosome, Telomeric Region
Seminiferous Tubule Development
Cellular Response To Hydroxyurea
Regulation Of Histone H3-K9 Trimethylation
Negative Regulation Of Telomeric RNA Transcription From RNA Pol II Promoter
Positive Regulation Of Telomeric RNA Transcription From RNA Pol II Promoter
Negative Regulation Of Maintenance Of Mitotic Sister Chromatid Cohesion, Telomeric
Pathways
Inhibition of DNA recombination at telomere
Defective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations
Defective Inhibition of DNA Recombination at Telomere Due to ATRX Mutations
Drugs
Diseases
Syndromic X-linked mental retardation with epilepsy or seizures, including: West syndrome (WS); Partington syndrome (PRTS); Proud syndrome (ACCAG); XMR and epilepsy (XMRE); MRXHF1; XMR OPHN1-related (MRXSO) ; XELBD; XMR, Christianson type (MRXSC); Creatine deficiency syndrome (XL-CDS); Renpenning syndrome (RENS1); Epilepsy and mental retardation limited to females (EFMR); Periventricular nodular heterotopia (PVNH); Hydrocephalus (XLH); XMR, JARID1C related (MRXSJ); Boerjeson-Forssman syndrome (BFLS); CK syndrome (CKS)
Thalassemia; Alpha thalassemia; Beta thalassemia; Alpha thalassemia, X-linked (ATRX)
Non-syndromic X-linked mental retardation
46,XY disorders of sex development (Disorders of gonadal development), including: Gonadal agenesis; Complete and partial gonadal dysgenesis; Testis regression; Ovotesticular DSD
GWAS
Age-related cognitive decline (language) (slope of z-scores) (
30954325
)
Bone fracture in osteoporosis (
28580392
)
Estimated glomerular filtration rate (
31152163
)
Lung function (FEV1/FVC) (
28166213
)
Metabolite levels (
23823483
)
Neurofibrillary tangles (
25188341
)
Normalized brain volume (
19010793
)
Platelet thrombus formation (
22550155
)
Plateletcrit (
32888494
)
Platelet count (
32888494
)
Plateletcrit (
32888494
)
Interacting Genes
35 interacting genes:
AR
ATRX
BUB1
CENPF
DYNLT1
ESR1
FLNA
HAX1
HMMR
HSP90AA1
ITGB3BP
KIF22
KIFC3
KMT2A
KRT18
LMNA
LMNB2
LUC7L2
MIF4GD
MPHOSPH9
MRTFB
NME2
NR3C1
ODF2
P2RX7
PAN3
PCNX3
PPARG
SH3PXD2A
STARD9
TGFB1I1
TNFAIP1
TRIP6
UXT
YWHAG
27 interacting genes:
ATN1
AURKA
BLM
CALM1
CCSER2
CEP126
CREBBP
DAXX
EZH2
H3-3A
H3C14
HDAC1
HDAC4
LUC7L2
MDM2
NEK1
NSD1
PTN
PTPN4
RAD51
RASSF1
SUMO2
SVIL
TP53
WRN
ZBED1
ZNF512B
Entrez ID
6840
546
HPRD ID
04992
02069
Ensembl ID
ENSG00000197321
ENSG00000085224
Uniprot IDs
A0A6I8PIX7
O95425
Q569J5
A4LAA3
B4DLW1
P46100
PDB IDs
2K6M
2K6N
2JM1
2LBM
2LD1
3QL9
3QLA
3QLC
3QLN
4W5A
5GRQ
5Y18
5Y6O
6G0O
Enriched GO Terms of Interacting Partners
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