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ATN1 and ATRX
Data Source:
HPRD
(in vivo)
ATN1
ATRX
Description
atrophin 1
ATRX chromatin remodeler
Image
No pdb structure
GO Annotations
Cellular Component
Nucleus
Nucleoplasm
Cytoplasm
Nuclear Matrix
Cell Junction
Perinuclear Region Of Cytoplasm
Nuclear Chromosome
Condensed Chromosome, Centromeric Region
Chromosome, Telomeric Region
Heterochromatin
Nucleus
Nucleoplasm
Pericentric Heterochromatin
Nuclear Body
PML Body
Chromosome, Subtelomeric Region
Molecular Function
RNA Polymerase II Transcription Factor Binding
Transcription Corepressor Activity
Protein Binding
Protein Domain Specific 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
Negative Regulation Of Transcription By RNA Polymerase II
Central Nervous System Development
Neuron Apoptotic 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
Pathways
Regulation of PTEN gene transcription
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
Dentatorubropallidoluysian atrophy (DRPLA)
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
Refractive error (
32231278
)
Platelet count (
32888494
)
Plateletcrit (
32888494
)
Interacting Genes
121 interacting genes:
AGRN
ALG13
ARF3
ATRX
BAG3
BAG6
BAIAP2
CACNB1
CASP1
CASP3
CBFA2T2
CENPJ
CHRD
CRACR2A
CRIP2
CSNK2A1
CTNND2
DGCR6L
DMPK
DMRT3
DVL1
DVL2
ECM1
EFEMP1
EFEMP2
ETNK2
EWSR1
FBLN1
FBLN2
FBLN5
GAPDH
GCC1
GIGYF1
GRN
HGS
HINFP
HNRNPF
HSPG2
ITCH
JAG2
KAT6A
KAT6B
KAT7
KRT31
KRTAP12-2
KRTAP15-1
KRTAP19-2
KRTAP19-5
KRTAP4-12
KRTAP6-2
KRTAP9-3
LENG8
LRP2
LTBP1
LTBP4
LYST
MAGI1
MAGI2
MAP7D1
MBP
MDFI
MEGF11
MEGF6
MEGF8
NCK2
NELL1
NELL2
NOC2L
NR2E1
OLIG3
P4HA3
PCSK5
PDCD6IP
PFKL
PIN1
PITX1
PITX2
PLSCR1
PPP1R32
PRRC2A
PRRC2B
PSMA3
PSME3
RAD54L2
RBFOX1
RBFOX2
RBM10
RBM14
RBM4B
RBPMS
RCHY1
RERE
RHOXF2
RNF115
RNF31
RUNX1T1
SH3RF1
SIAH1
SIAH2
SLC25A48
SLIT1
SPAG5
SS18L1
SSPOP
STXBP4
SYVN1
TEKT3
TEP1
TLE1
TLE5
TNFAIP8
TRIP6
USP2
USP54
VIM
WDR5
WWP1
WWP2
ZMYND8
ZNF503
ZSWIM8
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
1822
546
HPRD ID
06311
02069
Ensembl ID
ENSG00000111676
ENSG00000085224
Uniprot IDs
P54259
Q86V38
A4LAA3
B4DLW1
P46100
PDB IDs
2JM1
2LBM
2LD1
3QL9
3QLA
3QLC
3QLN
4W5A
5GRQ
5Y18
5Y6O
6G0O
Enriched GO Terms of Interacting Partners
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