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AMER1 R353* [cytosol]
Stable Identifier
R-HSA-9663939
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
FAM123B, WTX
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of signal transduction by growth factor receptors and second messengers (Homo sapiens)
Signaling by WNT in cancer (Homo sapiens)
Signaling by AMER1 mutants (Homo sapiens)
Truncations of AMER1 destabilize the destruction complex (Homo sapiens)
Truncated AMER1 mutants destabilize the destruction complex (Homo sapiens)
truncated AMER1 mutants [cytosol] (Homo sapiens)
AMER1 R353* [cytosol] (Homo sapiens)
Literature References
PubMed ID
Title
Journal
Year
19760609
WTX inactivation is a frequent, but late event in Wilms tumors without apparent clinical impact
Wegert, J
,
Wittmann, S
,
Leuschner, I
,
Geissinger, E
,
Graf, N
,
Gessler, M
Genes Chromosomes Cancer
2009
External Reference Information
External Reference
UniProt:Q5JTC6 AMER1
Gene Names
AMER1, FAM123B, WTX
Chain
chain:1-1135
Reference Genes
BioGPS Gene:139285 AMER1
COSMIC (genes):AMER1 AMER1
CTD Gene:139285 AMER1
dbSNP Gene:139285 AMER1
ENSEMBL:ENSG00000184675 AMER1
HGNC:26837 AMER1
KEGG Gene (Homo sapiens):139285 AMER1
Monarch:139285 AMER1
NCBI Gene:139285 AMER1
OMIM:300647 AMER1
UCSC:Q5JTC6 AMER1
Reference Transcript
RefSeq:NM_152424.3 AMER1
Other Identifiers
0003360020
11734467_at
11755798_a_at
139285
1552882_a_at
17111641
4010607
4010608
4010609
4010610
4010611
4010612
4010613
4010614
4010615
4010616
4010617
4010618
4010619
4010620
4010639
4010641
4010643
4010645
8173232
A_33_P3227329
GE812308
GO:0001822
GO:0003674
GO:0005515
GO:0005546
GO:0005575
GO:0005622
GO:0005634
GO:0005654
GO:0005737
GO:0005829
GO:0005886
GO:0006464
GO:0007165
GO:0007267
GO:0008013
GO:0008150
GO:0008289
GO:0009056
GO:0016020
GO:0016055
GO:0016604
GO:0022607
GO:0030154
GO:0031398
GO:0043167
GO:0043226
GO:0043231
GO:0048856
GO:0060348
GO:0060612
GO:0060828
GO:0065003
GO:0072161
GO:0090090
GO:0090263
GO:1903364
GO:1904713
GO:1904885
GO:1904886
Hs2.314225.1.S1_3p_s_at
ILMN_1743846
ILMN_1750051
ILMN_3237153
PH_hs_0015944
TC0X001095.hg
Participant Of
hasCandidate
truncated AMER1 mutants [cytosol]
Other forms of this molecule
AMER1 R497* [cytosol]
AMER1 S210* [cytosol]
AMER1 R358* [cytosol]
AMER1 [cytosol]
Modified Residues
Name
Nonsense mutation at L-arginine 353
Coordinate
353
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name
Identifier
Synonyms
colon adenocarcinoma
234
adenocarcinoma of the colon, adenocarcinoma of colon, Colonic adenocarcinoma
colorectal cancer
9256
cancer
162
malignant tumor, malignant neoplasm, primary cancer
Cross References
RefSeq
NP_689637.3
COSMIC
COSM28714
OpenTargets
ENSG00000184675
HPA
ENSG00000184675-AMER1
GeneCards
Q5JTC6
Ensembl
ENST00000374869
,
ENSP00000364003
,
ENSG00000184675
PRO
Q5JTC6
Orphanet
17979
PDB
4YK6
,
4YJE
,
4YJL
Interactors (7)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P25054 APC
86
APC C1410* [cytosol]
(R-HSA-9666925)
APC R213* [cytosol]
(R-HSA-9666924)
APC K1310* [cytosol]
(R-HSA-9666926)
APC R499* [cytosol]
(R-HSA-9666927)
APC R1450* [cytosol]
(R-HSA-5251499)
APC G1357* [cytosol]
(R-HSA-9666940)
APC L1488* [cytosol]
(R-HSA-9666941)
APC S1400* [cytosol]
(R-HSA-9666942)
APC S1346* [cytosol]
(R-HSA-9666943)
APC R405* [cytosol]
(R-HSA-9666936)
APC S1281* [cytosol]
(R-HSA-9666937)
APC E1573* [cytosol]
(R-HSA-9666938)
APC R805* [cytosol]
(R-HSA-9666939)
APC R1386* [cytosol]
(R-HSA-9666932)
APC S1327* [cytosol]
(R-HSA-9666933)
APC E1209* [cytosol]
(R-HSA-9666934)
APC Q1469* [cytosol]
(R-HSA-9666935)
APC R564* [cytosol]
(R-HSA-9666928)
APC E1536* [cytosol]
(R-HSA-9666929)
APC G1288* [cytosol]
(R-HSA-9666930)
APC G1312* [cytosol]
(R-HSA-9666931)
APC R283* [cytosol]
(R-HSA-9666988)
APC Q1367* [cytosol]
(R-HSA-9666989)
APC E1353* [cytosol]
(R-HSA-9666990)
APC R332* [cytosol]
(R-HSA-9666991)
APC K993* [cytosol]
(R-HSA-9666984)
APC R876* [cytosol]
(R-HSA-9666985)
APC R302* [cytosol]
(R-HSA-9666986)
APC E1309* [cytosol]
(R-HSA-9666987)
APC Y935* [cytosol]
(R-HSA-9666980)
APC E1286* [cytosol]
(R-HSA-9666981)
APC Q1378* [cytosol]
(R-HSA-9666982)
APC R554* [cytosol]
(R-HSA-9666983)
APC S1356* [cytosol]
(R-HSA-9666976)
APC R232* [cytosol]
(R-HSA-9666977)
APC E1379* [cytosol]
(R-HSA-9666978)
APC E984* [cytosol]
(R-HSA-9666979)
APC R1114* [cytosol]
(R-HSA-9666996)
APC S1282* [cytosol]
(R-HSA-9666997)
APC Q1328* [cytosol]
(R-HSA-9666998)
APC E1295* [cytosol]
(R-HSA-9666992)
APC E1151* [cytosol]
(R-HSA-9666993)
APC E1322* [cytosol]
(R-HSA-9666994)
APC E1345* [cytosol]
(R-HSA-9666995)
APC K1308* [cytosol]
(R-HSA-9666956)
APC S1344* [cytosol]
(R-HSA-9666957)
APC E1577* [cytosol]
(R-HSA-9666958)
APC Q1127* [cytosol]
(R-HSA-9666959)
APC E1464* [cytosol]
(R-HSA-9666952)
APC E1317* [cytosol]
(R-HSA-9666953)
APC G1309Dfs*4 [cytosol]
(R-HSA-4791251)
APC W1049* [cytosol]
(R-HSA-9666954)
APC Q1429* [cytosol]
(R-HSA-9666955)
APC L1564* [cytosol]
(R-HSA-9666948)
APC Q1294* [cytosol]
(R-HSA-9666949)
APC K1363* [cytosol]
(R-HSA-9666950)
APC E1408* [cytosol]
(R-HSA-9666951)
APC E1284* [cytosol]
(R-HSA-9666944)
APC E1374* [cytosol]
(R-HSA-9666945)
APC Q767* [cytosol]
(R-HSA-9666946)
APC E941* [cytosol]
(R-HSA-9666947)
APC Q1303* [cytosol]
(R-HSA-9666972)
APC S943* [cytosol]
(R-HSA-9666973)
APC E1306* [cytosol]
(R-HSA-9666975)
APC S895* [cytosol]
(R-HSA-9666969)
APC S1315* [cytosol]
(R-HSA-9666970)
APC G1412* [cytosol]
(R-HSA-9666971)
APC Y1376* [cytosol]
(R-HSA-9666964)
APC Q886* [cytosol]
(R-HSA-9666965)
APC S1392* [cytosol]
(R-HSA-9666966)
APC S1539* [cytosol]
(R-HSA-9666967)
APC E1451* [cytosol]
(R-HSA-9666960)
APC E1397* [cytosol]
(R-HSA-9666961)
APC Q1406* [cytosol]
(R-HSA-9666962)
APC E1544* [cytosol]
(R-HSA-9666963)
APC F1197* [cytosol]
(R-HSA-5246655)
APC Q1338* [cytosol]
(R-HSA-5246654)
APC S811* [cytosol]
(R-HSA-5246652)
APC I1417 fs*2 [cytosol]
(R-HSA-5246651)
APC E1554* [cytosol]
(R-HSA-5246648)
APC(1-777) [cytosol]
(R-HSA-2976014)
APC(778-2843) [cytosol]
(R-HSA-2976013)
APC [cytosol]
(R-HSA-2976015)
p-ub-APC [cytosol]
(R-HSA-3009421)
K63polyUb-APC [cytosol]
(R-HSA-5246690)
APC [nucleoplasm]
(R-HSA-3361755)
0.723
4
UniProt:P35222 CTNNB1
33
CTNNB1 S45F [cytosol]
(R-HSA-4791268)
CTNNB1 S45A [cytosol]
(R-HSA-9663982)
CTNNB1 S45C [cytosol]
(R-HSA-9663983)
CTNNB1 S45Y [cytosol]
(R-HSA-9663975)
CTNNB1 S45N [cytosol]
(R-HSA-9663984)
CTNNB1 S45P [cytosol]
(R-HSA-4791272)
pT41,S45-CTNNB1 S37P [cytosol]
(R-HSA-9663981)
pT41,S45-CTNNB1 S37F [cytosol]
(R-HSA-4839621)
pT41,S45-CTNNB1 S37A [cytosol]
(R-HSA-4839619)
pT41,S45-CTNNB1 S37Y [cytosol]
(R-HSA-9663978)
pT41,S45-CTNNB1 S37C [cytosol]
(R-HSA-4839617)
pS37,T41,S45-CTNNB1 S33A [cytosol]
(R-HSA-9663976)
pS37,T41,S45-CTNNB1 S33T [cytosol]
(R-HSA-9663977)
pS37,T41,S45-CTNNB1 S33C [cytosol]
(R-HSA-4839630)
pS37,T41,S45-CTNNB1 S33F [cytosol]
(R-HSA-4839628)
pS37,T41,S45-CTNNB1 S33P [cytosol]
(R-HSA-4839626)
pS37,T41,S45-CTNNB1 S33Y [cytosol]
(R-HSA-4839625)
pS45-CTNNB1 T41N [cytosol]
(R-HSA-9663980)
pS45-CTNNB1 T41A [cytosol]
(R-HSA-4836868)
pS45-CTNNB1 T41I [cytosol]
(R-HSA-4839612)
Ub-K,p-Y-CTNNB1 [cytosol]
(R-HSA-8877006)
p-Y-CTNNB1 [cytosol]
(R-HSA-8876940)
p-S552-CTNNB1 [nucleoplasm]
(R-HSA-3134926)
p-S552-CTNNB1 [cytosol]
(R-HSA-3134933)
CTNNB1(116-376) [cytosol]
(R-HSA-202950)
CTNNB1(1-115) [cytosol]
(R-HSA-202930)
CTNNB1 [plasma membrane]
(R-HSA-9038440)
p-S45 CTNNB1 [cytosol]
(R-HSA-8942363)
p-T41,S45 CTNNB1 [cytosol]
(R-HSA-8942367)
p-S37,T41,S45, CTNNB1 [cytosol]
(R-HSA-8942369)
p-S33,S37,T41,S45 CTNNB1 [cytosol]
(R-HSA-8942374)
CTNNB1 [cytosol]
(R-HSA-448839)
CTNNB1 [nucleoplasm]
(R-HSA-3451168)
0.711
9
UniProt:O15169 AXIN1
11
AXIN1 Y346* [cytosol]
(R-HSA-4839753)
AXIN1 L396M [cytosol]
(R-HSA-5251503)
AXIN1 E406* [cytosol]
(R-HSA-5251500)
AXIN1 W247* [cytosol]
(R-HSA-5251512)
AXIN1 P354L [cytosol]
(R-HSA-5251511)
AXIN1 P255S [cytosol]
(R-HSA-5251505)
ub-AXIN1 [cytosol]
(R-HSA-4641133)
AXIN1 [cytosol]
(R-HSA-195249)
p-T519,S524,S531-AXIN1 [cytosol]
(R-HSA-206040)
RibC-AXIN1 [cytosol]
(R-HSA-3640841)
Ub-RibC-AXIN1 [cytosol]
(R-HSA-3640864)
0.708
7
UniProt:Q9Y297 BTRC
2
BTRC [nucleoplasm]
(R-HSA-3361753)
BTRC [cytosol]
(R-HSA-174237)
0.591
5
UniProt:Q8N944 AMER3
0.537
4
UniProt:Q14145 KEAP1
2
KEAP1 [cytosol]
(R-HSA-976038)
Ub-KEAP1 [cytosol]
(R-HSA-6782766)
0.499
2
UniProt:Q9UKB1 FBXW11
1
FBXW11 [cytosol]
(R-HSA-976035)
0.499
4
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