Reactome | AMER1 S210* [cytosol]

AMER1 S210* [cytosol]

Stable Identifier

R-HSA-5251492

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Synonyms

AMER1, FAM123B, WTX

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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 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

ENSEMBL_homo_sapiens_GENE:ENSG00000184675.11 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

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:0005654

GO:0005737

GO:0005829

GO:0005886

GO:0008013

GO:0008289

GO:0016020

GO:0016055

GO:0016604

GO:0023052

GO:0030154

GO:0030163

GO:0031398

GO:0036211

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 [cytosol]

AMER1 R353* [cytosol]

AMER1 R358* [cytosol]

AMER1 R497* [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

OpenTargets

ENSG00000184675

HPA

ENSG00000184675-AMER1

GeneCards

Q5JTC6

Ensembl

ENST00000374869, ENSP00000364003, ENSG00000184675

PRO

Q5JTC6

Pharos - Targets

Q5JTC6

Orphanet

17979

PDB

4YJE, 4YJL, 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) 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)	0.711	9
UniProt:O15169 AXIN1	11	AXIN1 L396M [cytosol] (R-HSA-5251503) AXIN1 Y346* [cytosol] (R-HSA-4839753) 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) Ub-RibC-AXIN1 [cytosol] (R-HSA-3640864) RibC-AXIN1 [cytosol] (R-HSA-3640841) p-T481,S486,S493-AXIN1 [cytosol] (R-HSA-206040) AXIN1 [cytosol] (R-HSA-195249)	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:Q9H9D4 ZN408			0.527	2
UniProt:O14965 AURKA	6	SUMO1-K258-AURKA [cytosol] (R-HSA-4655367) p-T288-AURKA [nucleoplasm] (R-HSA-6805089) PolyUb-AURKA [cytosol] (R-HSA-8854040) AURKA [nucleoplasm] (R-HSA-4655443) AURKA [cytosol] (R-HSA-174254) p-T288-AURKA [cytosol] (R-HSA-2574832)	0.527	2
UniProt:Q8N878 FRMD1			0.527	2
UniProt:Q8N831 TSYL6			0.527	2
UniProt:Q9UI47 CTNA3			0.527	2
UniProt:Q14145 KEAP1	3	Ub-KEAP1 [cytosol] (R-HSA-6782766) ub-KEAP1 [cytosol] (R-HSA-9766647) KEAP1 [cytosol] (R-HSA-976038)	0.499	2

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