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ATRX and CEP126
Data Source:
BioGRID
(two hybrid)
HPRD
(two hybrid)
ATRX
CEP126
Description
ATRX chromatin remodeler
centrosomal protein 126
Image
No pdb structure
GO Annotations
Cellular Component
Nuclear Chromosome
Condensed Chromosome, Centromeric Region
Chromosome, Telomeric Region
Heterochromatin
Nucleus
Nucleoplasm
Pericentric Heterochromatin
Nuclear Body
PML Body
Chromosome, Subtelomeric Region
Cytoplasm
Centrosome
Midbody
Ciliary Base
Molecular Function
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
Protein Binding
Biological Process
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
Mitotic Spindle Organization
Cytoplasmic Microtubule Organization
Cilium Assembly
Non-motile Cilium Assembly
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
Platelet count (
32888494
)
Plateletcrit (
32888494
)
Interacting Genes
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
87 interacting genes:
AIMP2
AKTIP
ARIH2
ATP6V1F
ATRX
BMI1
BRD1
C11orf58
CDKN2B
CRCT1
CSTF2
DGCR6
DISC1
DLEU1
DNM1
DUSP12
DUSP23
EIF2S2
EIF6
EPN1
FAM118B
FEZ1
FGFR3
FXR1
GEMIN7
GET4
GIT1
GOLGB1
GPRASP2
GSTO1
HMOX2
HTT
ING5
KAT5
KAT7
KIF15
KLHL20
LAMTOR5
LPL
LRRC1
LUC7L2
MAD2L1BP
MAPK9
MLH1
MRPS6
NAP1L5
NAT9
NPM3
NSF
NUDT21
ODF2L
OFD1
PBK
PDCD5
PFDN1
PIK3R3
PMF1
POLD1
POLR2M
PPP1CA
PPP1CC
PRKRA
PTPRS
RAB27A
RAN
RBM23
RETREG2
RGS2
RIF1
ROGDI
RPA2
RUVBL1
SAT1
SNRPG
SPDL1
STAU2
TFG
TNFRSF14
TNFSF11
TOMM20
TTR
TXNDC9
VIM
YAE1
YWHAZ
ZBED8
ZNF24
Entrez ID
546
57562
HPRD ID
02069
17212
Ensembl ID
ENSG00000085224
ENSG00000110318
Uniprot IDs
A4LAA3
B4DLW1
P46100
Q9P2H0
PDB IDs
2JM1
2LBM
2LD1
3QL9
3QLA
3QLC
3QLN
4W5A
5GRQ
5Y18
5Y6O
6G0O
Enriched GO Terms of Interacting Partners
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