ATRX K330Nfs*2 [nucleoplasm]

Stable Identifier
R-HSA-9672231
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
nucleoplasm
Synonyms
ATRX Lys330Asnfs*2, ATRX K330NfsTER2, ATRX Lys330AsnfsTER2
Icon
ATRX K330Nfs*2 [nucleoplasm] icon
ATRX K330Nfs*2 [nucleoplasm] icon
Locations in the PathwayBrowser
Expand all
Literature References
PubMed ID Title Journal Year
14990586 A novel transcription regulatory complex containing death domain-associated protein and the ATR-X syndrome protein

Barak, OG, Picketts, DJ, Wu, S, Tang, J, Stratt, R, Shiekhattar, R, Liu, H, Yang, X

J. Biol. Chem. 2004
External Reference Information
External Reference
UniProt:P46100 ATRX
Gene Names
ATRX, RAD54L, XH2
Chain
chain:1-2492
Reference Genes
BioGPS Gene:546 ATRX
COSMIC (genes):ATRX ATRX
COSMIC (genes):RAD54L ATRX
CTD Gene:546 ATRX
dbSNP Gene:546 ATRX
ENSEMBL:ENSG00000085224 ATRX
HGNC:886 ATRX
KEGG:hsa:546 ATRX
Monarch:546 ATRX
NCBI Gene:546 ATRX
OMIM:300032 ATRX
UCSC:P46100 ATRX
Reference Transcript
Other Identifiers
11721714_s_at
11721715_s_at
11721716_s_at
11721717_s_at
11721718_a_at
11754247_s_at
11755517_s_at
11755754_s_at
17112269
208859_PM_s_at
208859_s_at
208860_PM_s_at
208860_s_at
208861_PM_s_at
208861_s_at
211022_PM_s_at
211022_s_at
39146_at
39147_g_at
39148_s_at
4013226
4013227
4013228
4013229
4013230
4013231
4013232
4013233
4013234
4013235
4013236
4013237
4013238
4013239
4013240
4013241
4013242
4013243
4013244
4013245
4013246
4013247
4013248
4013249
4013250
4013251
4013252
4013253
4013254
4013255
4013256
4013257
4013258
4013259
4013260
4013261
4013262
4013263
4013264
4013265
4013266
4013267
4013268
4013270
4013271
4013272
4013273
4013274
4013275
4013276
4013277
4013278
4013279
4013280
4013281
4013282
4013283
4013284
4013285
4013286
4013287
4013288
4013289
4013290
4013291
4013292
4013293
4013295
4013296
4013297
4013298
4013300
4013325
4013335
4013337
4055289
4055290
4055291
4055292
4055293
4055294
4055295
4055296
4055297
4055298
4055299
4055300
4055301
4055302
4055303
4055304
4055305
4055306
4055307
4055308
4055309
4055313
4055315
4055323
4055325
4055327
4055328
4055329
4055330
4055331
4055332
4055333
4055334
4055335
4055336
4055337
4055338
4055339
4055340
4055341
4055342
4055343
4055344
4055345
4055346
4055347
4055353
4055401
4056032
4056033
4056034
4056035
4056036
4056037
4056038
4056039
4056040
4056041
4056042
4056043
4056044
4056045
4056059
4056060
4056061
4056133
546
72414_at
76209_at
8173673
8176276
818_s_at
A_23_P136874
A_24_P348660
A_33_P3319940
A_33_P3319943
A_33_P3380311
A_33_P3612589
GE59383
GE80917
GE825606
GO:0000166
GO:0000212
GO:0000228
GO:0000779
GO:0000781
GO:0000792
GO:0003677
GO:0003682
GO:0003824
GO:0004386
GO:0005515
GO:0005524
GO:0005634
GO:0005654
GO:0005694
GO:0005721
GO:0006281
GO:0006325
GO:0006334
GO:0006338
GO:0006351
GO:0006355
GO:0006366
GO:0007010
GO:0007283
GO:0010558
GO:0010571
GO:0015616
GO:0016604
GO:0016605
GO:0016787
GO:0016887
GO:0022414
GO:0030330
GO:0030900
GO:0031297
GO:0031490
GO:0031509
GO:0032206
GO:0035064
GO:0035128
GO:0035264
GO:0042393
GO:0043226
GO:0045944
GO:0046872
GO:0048856
GO:0060009
GO:0065003
GO:0070087
GO:0070192
GO:0070198
GO:0072520
GO:0072711
GO:0099115
GO:0140097
GO:0140657
GO:0140658
GO:1904908
HMNXSV003050864
Hs.96264.0.S1_3p_a_at
ILMN_1666885
ILMN_1690568
ILMN_1739042
ILMN_1744775
L34363_s_at
PH_hs_0025806
TC0X001173.hg
TC0X002137.hg
U09820_s_at
U72935_cds3_s_at
U72936_s_at
g12803396_3p_a_at
g606832_3p_a_at
g6960325_3p_a_at
Participates
as a member of
Other forms of this molecule
ATRX E288* [nucleoplasm]
ATRX K329Ifs*3 [nucleoplasm]
ATRX Q176* [nucleoplasm]
ATRX C268Qfs*18 [nucleoplasm]
ATRX Q177* [nucleoplasm]
ATRX G161* [nucleoplasm]
ATRX Q176Hfs*13 [nucleoplasm]
ATRX R160Pfs*29 [nucleoplasm]
ATRX K319* [nucleoplasm]
ATRX W222* [nucleoplasm]
ATRX E63* [nucleoplasm]
ATRX S79* [nucleoplasm]
ATRX H166Mfs*4 [nucleoplasm]
ATRX Y266* [nucleoplasm]
ATRX L253* [nucleoplasm]
ATRX W263* [nucleoplasm]
ATRX Y187* [nucleoplasm]
ATRX Y204* [nucleoplasm]
ATRX Q292* [nucleoplasm]
ATRX P190Hfs*15 [nucleoplasm]
ATRX L274Ffs*8 [nucleoplasm]
ATRX Q193* [nucleoplasm]
ATRX R188* [nucleoplasm]
ATRX S213* [nucleoplasm]
ATRX M205* [nucleoplasm]
ATRX L273Ffs*9 [nucleoplasm]
ATRX R250* [nucleoplasm]
ATRX D184Ifs*22 [nucleoplasm]
ATRX V478Ffs*36 [nucleoplasm]
ATRX T534Wfs*3 [nucleoplasm]
ATRX G859Rfs*4 [nucleoplasm]
ATRX T792Ifs*12 [nucleoplasm]
ATRX P995Tfs*5 [nucleoplasm]
ATRX K994Efs*6 [nucleoplasm]
ATRX I1049Nfs*4 [nucleoplasm]
ATRX T387Qfs*27 [nucleoplasm]
ATRX S471Vfs*43 [nucleoplasm]
ATRX S558Ifs*4 [nucleoplasm]
ATRX K358Nfs*2 [nucleoplasm]
ATRX L639Wfs*10 [nucleoplasm]
ATRX G551* [nucleoplasm]
ATRX G1071* [nucleoplasm]
ATRX K425Rfs*8 [nucleoplasm]
ATRX E1010Mfs*24 [nucleoplasm]
ATRX E991Gfs*9 [nucleoplasm]
ATRX N428Yfs*5 [nucleoplasm]
ATRX I360Rfs*6 [nucleoplasm]
ATRX S1101* [nucleoplasm]
ATRX K1018Rfs*5 [nucleoplasm]
ATRX S729* [nucleoplasm]
ATRX V957Sfs*7 [nucleoplasm]
ATRX S567* [nucleoplasm]
ATRX R885Sfs*21 [nucleoplasm]
ATRX S797* [nucleoplasm]
ATRX T844Yfs*5 [nucleoplasm]
ATRX S788* [nucleoplasm]
ATRX R840Kfs*9 [nucleoplasm]
ATRX S750* [nucleoplasm]
ATRX S342* [nucleoplasm]
ATRX C1122Lfs*8 [nucleoplasm]
ATRX E431* [nucleoplasm]
ATRX E482* [nucleoplasm]
ATRX E643* [nucleoplasm]
ATRX K1081Rfs*37 [nucleoplasm]
ATRX E1065* [nucleoplasm]
ATRX E1159* [nucleoplasm]
ATRX D1106Ifs*12 [nucleoplasm]
ATRX E585* [nucleoplasm]
ATRX K1057Rfs*61 [nucleoplasm]
ATRX E533* [nucleoplasm]
ATRX E680* [nucleoplasm]
ATRX D1126Rfs*3 [nucleoplasm]
ATRX K1143Rfs*47 [nucleoplasm]
ATRX D791* [nucleoplasm]
ATRX E625* [nucleoplasm]
ATRX L359Tfs*3 [nucleoplasm]
ATRX P663Yfs*10 [nucleoplasm]
ATRX E1119* [nucleoplasm]
ATRX R1128Sfs*2 [nucleoplasm]
ATRX L359Hfs*3 [nucleoplasm]
ATRX L452Ffs*12 [nucleoplasm]
ATRX I383Nfs*11 [nucleoplasm]
ATRX L664* [nucleoplasm]
ATRX L513* [nucleoplasm]
ATRX I1049* [nucleoplasm]
ATRX E976Dfs*2 [nucleoplasm]
ATRX K1001Nfs*3 [nucleoplasm]
ATRX K945Rfs*25 [nucleoplasm]
ATRX I1049Kfs*69 [nucleoplasm]
ATRX K826* [nucleoplasm]
ATRX T1172Lfs*18 [nucleoplasm]
ATRX K459* [nucleoplasm]
ATRX K971Tfs*31 [nucleoplasm]
ATRX K1052* [nucleoplasm]
ATRX K455* [nucleoplasm]
ATRX K983* [nucleoplasm]
ATRX E1017Dfs*5 [nucleoplasm]
ATRX V1002* [nucleoplasm]
ATRX K782* [nucleoplasm]
ATRX K823* [nucleoplasm]
ATRX K967* [nucleoplasm]
ATRX K993Rfs*10 [nucleoplasm]
ATRX K910* [nucleoplasm]
ATRX K1045* [nucleoplasm]
ATRX K562* [nucleoplasm]
ATRX I1049Mfs*3 [nucleoplasm]
ATRX S871Hfs*34 [nucleoplasm]
ATRX S784Lfs*13 [nucleoplasm]
ATRX F888Sfs*17 [nucleoplasm]
ATRX E886Dfs*10 [nucleoplasm]
ATRX G859Efs*10 [nucleoplasm]
ATRX R840Efs*29 [nucleoplasm]
ATRX K823Rfs*7 [nucleoplasm]
ATRX R781* [nucleoplasm]
ATRX [nucleoplasm]
ATRX T684Sfs*2 [nucleoplasm]
ATRX L738Gfs*13 [nucleoplasm]
ATRX Q554Rfs*21 [nucleoplasm]
ATRX K778Nfs*23 [nucleoplasm]
ATRX S747Ffs*6 [nucleoplasm]
ATRX Y341* [nucleoplasm]
ATRX Q727* [nucleoplasm]
ATRX D774Mfs*29 [nucleoplasm]
ATRX N676Kfs*17 [nucleoplasm]
ATRX V725Gfs*7 [nucleoplasm]
ATRX I737Kfs*3 [nucleoplasm]
ATRX E723Dfs*9 [nucleoplasm]
ATRX Q984* [nucleoplasm]
ATRX Q391* [nucleoplasm]
ATRX Q545* [nucleoplasm]
ATRX S747Rfs*6 [nucleoplasm]
ATRX E886Lfs*18 [nucleoplasm]
ATRX S876Lfs*29 [nucleoplasm]
ATRX R808* [nucleoplasm]
ATRX A834Pfs*35 [nucleoplasm]
ATRX R666* [nucleoplasm]
ATRX Q883Rfs*13 [nucleoplasm]
Modified Residues
Name
Replacement of residues 330 to 330 by N
Disease
Name Identifier Synonyms
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
astrocytoma DOID:3069 astrocytoma of Cerebrum, Astrocytic tumor, astrocytoma of brain (disorder), astroglioma, astrocytoma, no ICD-O subtype (morphologic abnormality), cerebral astrocytoma
Cross References
COSMIC
OpenTargets
ENSEMBL
IntEnz
HPA
PRO
Pharos - Targets
GlyGen
Orphanet
HMDB Protein
PDB
Interactors (7)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q9UER7 DAXX  13 0.885 11
 UniProt:P68400 CSNK2A1  2 0.643 3
 UniProt:Q00566 Mecp2  4 0.61 5
 UniProt:P84243 H3-3A  18 0.564 2
 UniProt:Q92878 RAD50  1 0.537 5
 UniProt:P19784 CSNK2A2  2 0.527 2
 UniProt:Q15910 EZH2  1 0.524 2
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