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AMER1 S210* [cytosol]
Stable Identifier
R-HSA-5251492
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
AMER1, 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 S210* [cytosol] (Homo sapiens)
Literature References
PubMed ID
Title
Journal
Year
18311776
Wilms tumor genetics: mutations in WT1, WTX, and CTNNB1 account for only about one-third of tumors
Huff, V
,
Ruteshouser, EC
,
Robinson, SM
Genes Chromosomes Cancer
2008
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:hsa:139285 AMER1
Monarch:139285 AMER1
NCBI Gene:139285 AMER1
OMIM:300647 AMER1
UCSC:Q5JTC6 AMER1
Reference Transcript
RefSeq:NM_152424.3 AMER1
Other Identifiers
11734467_at
11755798_a_at
139285
1552882_PM_a_at
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:0005515
GO:0005546
GO:0005634
GO:0005737
GO:0005829
GO:0005886
GO:0008013
GO:0008289
GO:0016055
GO:0016604
GO:0030154
GO:0031398
GO:0043226
GO:0043231
GO:0045732
GO:0048856
GO:0060348
GO:0060612
GO:0060828
GO:0072161
GO:0090090
GO:0090263
GO:1904713
HMNXSV003058227
Hs2.314225.1.S1_3p_s_at
ILMN_1750051
PH_hs_0015944
TC0X001095.hg
Participates
as a candidate of
truncated AMER1 mutants [cytosol] (Homo sapiens)
Other forms of this molecule
AMER1 R497* [cytosol]
AMER1 R358* [cytosol]
AMER1 R353* [cytosol]
AMER1 [cytosol]
Modified Residues
Name
Nonsense mutation at L-serine 210
Coordinate
210
PsiMod
L-serine removal [MOD:01646]
A protein modification that effectively removes or replaces an L-serine.
Disease
Name
Identifier
Synonyms
kidney cancer
DOID:263
malignant neoplasm of kidney except pelvis, malignant tumour of kidney, renal cancer
nephroblastoma
DOID:2154
adult renal Wilms' tumor, adult nephroblastoma, childhood renal Wilms' cancer, renal Wilms tumor
Cross References
RefSeq
NP_689637.3
COSMIC
COSV57655668
ENSEMBL
ENST00000374869
,
ENSP00000364003
OpenTargets
ENSG00000184675
HPA
ENSG00000184675-AMER1
PRO
Q5JTC6
Pharos - Targets
Q5JTC6
Orphanet
AMER1
PDB
4YJL
,
4YJE
,
4YK6
Interactors (14)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P25054 APC
20
APC R213* [cytosol]
(R-HSA-9666924)
APC C1410* [cytosol]
(R-HSA-9666925)
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)
0.723
4
UniProt:P35222 CTNNB1
20
CTNNB1 S45A [cytosol]
(R-HSA-9663982)
CTNNB1 S45F [cytosol]
(R-HSA-4791268)
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)
CTNNB1 [nucleoplasm]
(R-HSA-3451168)
CTNNB1 [cytosol]
(R-HSA-448839)
CTNNB1(1-115) [cytosol]
(R-HSA-202930)
CTNNB1(116-376) [cytosol]
(R-HSA-202950)
CTNNB1 [plasma membrane]
(R-HSA-9038440)
p-S33,S37,T41,S45 CTNNB1 [cytosol]
(R-HSA-8942374)
p-S37,T41,S45, CTNNB1 [cytosol]
(R-HSA-8942369)
p-T41,S45 CTNNB1 [cytosol]
(R-HSA-8942367)
p-S45 CTNNB1 [cytosol]
(R-HSA-8942363)
p-S552-CTNNB1 [cytosol]
(R-HSA-3134933)
p-S552-CTNNB1 [nucleoplasm]
(R-HSA-3134926)
p-Y-CTNNB1 [cytosol]
(R-HSA-8876940)
0.711
9
UniProt:O15169 AXIN1
11
AXIN1 [cytosol]
(R-HSA-195249)
p-T481,S486,S493-AXIN1 [cytosol]
(R-HSA-206040)
ub-AXIN1 [cytosol]
(R-HSA-4641133)
RibC-AXIN1 [cytosol]
(R-HSA-3640841)
Ub-RibC-AXIN1 [cytosol]
(R-HSA-3640864)
AXIN1 P255S [cytosol]
(R-HSA-5251505)
AXIN1 P354L [cytosol]
(R-HSA-5251511)
AXIN1 W247* [cytosol]
(R-HSA-5251512)
AXIN1 E406* [cytosol]
(R-HSA-5251500)
AXIN1 Y346* [cytosol]
(R-HSA-4839753)
AXIN1 L396M [cytosol]
(R-HSA-5251503)
0.708
7
UniProt:Q9Y297 BTRC
2
BTRC [cytosol]
(R-HSA-174237)
BTRC [nucleoplasm]
(R-HSA-3361753)
0.688
7
UniProt:Q9UKB1 FBXW11
1
FBXW11 [cytosol]
(R-HSA-976035)
0.623
5
UniProt:Q8N944 AMER3
0.537
4
UniProt:O00295 TULP2
0.527
2
UniProt:Q8N4T0 CBPA6
0.527
2
UniProt:O14965 AURKA
6
p-T288-AURKA [cytosol]
(R-HSA-2574832)
AURKA [cytosol]
(R-HSA-174254)
p-T288-AURKA [nucleoplasm]
(R-HSA-6805089)
AURKA [nucleoplasm]
(R-HSA-4655443)
PolyUb-AURKA [cytosol]
(R-HSA-8854040)
SUMO1-K258-AURKA [cytosol]
(R-HSA-4655367)
0.527
2
UniProt:Q9H9D4 ZN408
0.527
2
UniProt:Q9UI47 CTNA3
0.527
2
UniProt:Q8N831 TSYL6
0.527
2
UniProt:Q8N878 FRMD1
0.527
2
UniProt:Q14145 KEAP1
3
KEAP1 [cytosol]
(R-HSA-976038)
ub-KEAP1 [cytosol]
(R-HSA-9766647)
Ub-KEAP1 [cytosol]
(R-HSA-6782766)
0.499
2
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