Reactome | AMER1 R353* [cytosol]

AMER1 R353* [cytosol]

Stable Identifier

R-HSA-9663939

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Synonyms

FAM123B, WTX

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Locations in the PathwayBrowser

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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 G1309Dfs4 [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 fs2 [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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