Reactome | APC R1450* [cytosol]

APC R1450* [cytosol]

Stable Identifier

R-HSA-5251499

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Synonyms

Adenomatous polyposis coli protein, APC_HUMAN, SW403

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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 APC mutants (Homo sapiens)
      - APC truncation mutants have impaired AXIN binding (Homo sapiens)
        
        APC truncation mutants have impaired AXIN binding (Homo sapiens)
        
        APC truncation mutants [cytosol] (Homo sapiens)
        
        APC R1450* [cytosol] (Homo sapiens)

Literature References

PubMed ID	Title	Journal	Year
11746989	Frequent alterations in the Wnt signaling pathway in colorectal cancer with microsatellite instability Kodama, S, Fujimori, M, Ikeda, S, Nakahara, M, Okajima, M, Asahara, T, Shimizu, Y	Genes Chromosomes Cancer	2002
1338904	Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC gene Mori, T, Ando, H, Nagase, H, Ichii, S, Horii, A, Nakamura, Y, Nakatsuru, S, Miyoshi, Y, Miki, Y, Aoki, T	Hum. Mol. Genet.	1992

External Reference Information

External Reference

UniProt:P25054 APC

Gene Names

APC, DP2.5

Chain

initiator methionine:1, chain:2-2843

Reference Genes

BioGPS Gene:324 APC

COSMIC (genes):APC APC

CTD Gene:324 APC

dbSNP Gene:324 APC

ENSEMBL:ENSG00000134982 APC

HGNC:583 APC

KEGG Gene (Homo sapiens):324 APC

Monarch:324 APC

NCBI Gene:324 APC

OMIM:611731 APC

UCSC:P25054 APC

Reference Transcript

Other Identifiers

0004920746

11731561_a_at

11731562_s_at

11757692_s_at

16988021

1912_s_at

203525_PM_s_at

203525_s_at

203526_PM_s_at

203526_s_at

203527_PM_s_at

203527_s_at

216933_3p_x_at

216933_PM_x_at

216933_x_at

2824218

2824220

2824225

2824230

2824232

2824233

2824239

2824244

2824245

2824248

2824253

2824256

2824257

2824258

2824266

2824267

2824268

2824272

2824273

2824274

2824275

2824276

2824277

2824279

324

36182_at

8107330

A_14_P106747

A_14_P116796

A_14_P135872

A_23_P70213

A_33_P3408983

GE58061

GO:0000278

GO:0000281

GO:0000776

GO:0001708

GO:0003674

GO:0005515

GO:0005575

GO:0005622

GO:0005634

GO:0005654

GO:0005694

GO:0005737

GO:0005794

GO:0005813

GO:0005815

GO:0005829

GO:0005856

GO:0005874

GO:0005881

GO:0005886

GO:0005912

GO:0005923

GO:0006464

GO:0006950

GO:0006974

GO:0007010

GO:0007026

GO:0007049

GO:0007059

GO:0007094

GO:0007155

GO:0007165

GO:0007267

GO:0007389

GO:0007399

GO:0008013

GO:0008017

GO:0008092

GO:0008150

GO:0008219

GO:0008283

GO:0008285

GO:0008286

GO:0009056

GO:0010942

GO:0016020

GO:0016055

GO:0016328

GO:0016342

GO:0016477

GO:0019887

GO:0019899

GO:0019901

GO:0022607

GO:0030027

GO:0030054

GO:0030154

GO:0030178

GO:0030234

GO:0030335

GO:0030877

GO:0031274

GO:0031625

GO:0032587

GO:0032886

GO:0032991

GO:0034330

GO:0040011

GO:0042592

GO:0042995

GO:0043065

GO:0043161

GO:0043226

GO:0045295

GO:0045595

GO:0045732

GO:0045736

GO:0048471

GO:0048856

GO:0048870

GO:0051010

GO:0051276

GO:0051301

GO:0051726

GO:0051988

GO:0065003

GO:0070830

GO:0070840

GO:0090090

GO:0120162

GO:0140014

GO:1902807

GO:1904781

GO:1990909

GO:2000134

HMNXSV003016363

Hs.75081.0.S2_3p_a_at

Hs.75081.1.S1_3p_a_at

ILMN_1662668

M73548_at

M74088_s_at

PH_hs_0031313

TC05003398.hg

g182396_3p_a_at

g4557318_3p_a_at

Participates

as a candidate of

APC truncation mutants [cytosol] (Homo sapiens)

Other forms of this molecule

APC R213* [cytosol]

APC C1410* [cytosol]

APC K1310* [cytosol]

APC R499* [cytosol]

APC G1357* [cytosol]

APC L1488* [cytosol]

APC S1400* [cytosol]

APC S1346* [cytosol]

APC R405* [cytosol]

APC S1281* [cytosol]

APC E1573* [cytosol]

APC R805* [cytosol]

APC R1386* [cytosol]

APC S1327* [cytosol]

APC E1209* [cytosol]

APC Q1469* [cytosol]

APC R564* [cytosol]

APC E1536* [cytosol]

APC G1288* [cytosol]

APC G1312* [cytosol]

APC R283* [cytosol]

APC Q1367* [cytosol]

APC E1353* [cytosol]

APC R332* [cytosol]

APC K993* [cytosol]

APC R876* [cytosol]

APC R302* [cytosol]

APC E1309* [cytosol]

APC Y935* [cytosol]

APC E1286* [cytosol]

APC Q1378* [cytosol]

APC R554* [cytosol]

APC S1356* [cytosol]

APC R232* [cytosol]

APC E1379* [cytosol]

APC E984* [cytosol]

APC R1114* [cytosol]

APC S1282* [cytosol]

APC Q1328* [cytosol]

APC E1295* [cytosol]

APC E1151* [cytosol]

APC E1322* [cytosol]

APC E1345* [cytosol]

APC K1308* [cytosol]

APC S1344* [cytosol]

APC E1577* [cytosol]

APC Q1127* [cytosol]

APC E1464* [cytosol]

APC E1317* [cytosol]

APC G1309Dfs*4 [cytosol]

APC W1049* [cytosol]

APC Q1429* [cytosol]

APC L1564* [cytosol]

APC Q1294* [cytosol]

APC K1363* [cytosol]

APC E1408* [cytosol]

APC E1284* [cytosol]

APC E1374* [cytosol]

APC Q767* [cytosol]

APC E941* [cytosol]

APC Q1303* [cytosol]

APC S943* [cytosol]

APC E1306* [cytosol]

APC S895* [cytosol]

APC S1315* [cytosol]

APC G1412* [cytosol]

APC Y1376* [cytosol]

APC Q886* [cytosol]

APC S1392* [cytosol]

APC S1539* [cytosol]

APC E1451* [cytosol]

APC E1397* [cytosol]

APC Q1406* [cytosol]

APC E1544* [cytosol]

APC F1197* [cytosol]

APC Q1338* [cytosol]

APC S811* [cytosol]

APC I1417 fs*2 [cytosol]

APC E1554* [cytosol]

p-ub-APC [cytosol]

K63polyUb-APC [cytosol]

APC [nucleoplasm]

APC(1-777) [cytosol]

APC(778-2843) [cytosol]

APC [cytosol]

Modified Residues

Name

Nonsense mutation at L-arginine 1450

Coordinate

1450

PsiMod

L-arginine removal [MOD:01632]

A protein modification that effectively removes or replaces an L-arginine.

Disease

Name	Identifier	Synonyms
colorectal cancer	DOID:9256

Cross References

RefSeq

NP_001120983.2, NP_001120982.1, NP_000029.2

COSMIC

COSV57321313

OpenTargets

ENSG00000134982

GeneCards

P25054

HPA

ENSG00000134982-APC

Ensembl

ENSP00000257430, ENST00000257430, ENSG00000134982, ENST00000508376, ENSP00000427089

PRO

P25054

Pharos - Targets

P25054

Orphanet

16443

PDB

1V18, 1M5I, 5IZ8, 3NMX, 1EMU, 4YJE, 5Z8H, 5B6G, 3T7U, 2RQU, 1JPP, 3NMW, 1T08, 1TH1, 3AU3, 1DEB, 3RL7, 5IZ9, 4YJL, 3QHE, 3RL8, 5IZ6, 4G69, 3NMZ, 4YK6, 5IZA

Interactors (23)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
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)	0.953	19
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) AXIN1 [cytosol] (R-HSA-195249) p-T519,S524,S531-AXIN1 [cytosol] (R-HSA-206040) RibC-AXIN1 [cytosol] (R-HSA-3640841)	0.845	17
UniProt:Q15691 MAPRE1	1	MAPRE1 [cytosol] (R-HSA-376240)	0.775	5
UniProt:P49841 GSK3B	4	GSK3B del304-316 [cytosol] (R-HSA-5339682) GSK3B [nucleoplasm] (R-HSA-2022823) p-S9-GSK3B [cytosol] (R-HSA-3149577) GSK3B [cytosol] (R-HSA-2997551)	0.763	5
UniProt:Q13363 CTBP1	3	monoSUMO1-K428-CTBP1 [nucleoplasm] (R-HSA-3108200) CTBP1 [nucleoplasm] (R-HSA-212372) polySUMO2,3-K428-CTBP1 [nucleoplasm] (R-HSA-3108226)	0.745	5
UniProt:P49674 CSNK1E	2	CSNK1E [cytosol] (R-HSA-205877) CSNK1E [nucleoplasm] (R-HSA-421306)	0.738	8
UniProt:Q5JTC6 AMER1	5	AMER1 R497* [cytosol] (R-HSA-9663943) AMER1 S210* [cytosol] (R-HSA-5251492) AMER1 R358* [cytosol] (R-HSA-4839640) AMER1 R353* [cytosol] (R-HSA-9663939) AMER1 [cytosol] (R-HSA-1504189)	0.723	4
UniProt:Q14160 SCRIB	1	SCRIB [cytosol] (R-HSA-4608858)	0.697	5
UniProt:P60953 CDC42	3	CDC42 [endoplasmic reticulum membrane] (R-HSA-5672086) CDC42 [cytosol] (R-HSA-442630) CDC42 [plasma membrane] (R-HSA-449545)	0.668	9
UniProt:Q96N96 SPATA13	1	SPATA13 [cytosol] (R-HSA-9690931)	0.667	5
UniProt:Q07666 KHDRBS1	3	p-Y435,Y440,Y443-KHDRBS1 [nucleoplasm] (R-HSA-8848970) p-Y435,Y440,Y443-KHDRBS1 [cytosol] (R-HSA-8848995) KHDRBS1 [nucleoplasm] (R-HSA-8848941)	0.667	4
UniProt:Q9NR80-3 ARHGEF4			0.646	5
UniProt:P35221 CTNNA1	2	CTNNA1 [cytosol] (R-HSA-191697) CTNNA1 [plasma membrane] (R-HSA-191735)	0.64	3
UniProt:P14923 JUP	6	JUP [cytosol] (R-HSA-201598) JUP [cornified envelope] (R-HSA-8847739) JUP [specific granule lumen] (R-HSA-6799534) JUP [extracellular region] (R-HSA-6806309) JUP [ficolin-1-rich granule lumen] (R-HSA-6801028) JUP [plasma membrane] (R-HSA-437260)	0.64	3
UniProt:Q8N944 AMER3			0.631	8
UniProt:Q02248 Ctnnb1	13	Ctnnb1 [nucleoplasm] (R-MMU-9735212) phospho-Ctnnb1 [nucleoplasm] (R-MMU-3134926) phospho-Ctnnb1 [cytosol] (R-MMU-3134933) Ctnnb1 [nucleoplasm] (R-MMU-3451168) Ctnnb1 [cytosol] (R-MMU-448839) Ctnnb1 [cytosol] (R-MMU-202930) Ctnnb1 [cytosol] (R-MMU-202950) phospho-Ctnnb1 [cytosol] (R-MMU-8942374) beta-catenin [cytosol] (R-MMU-206225) phospho-Ctnnb1 [cytosol] (R-MMU-8942369) phospho-Ctnnb1 [cytosol] (R-MMU-8942367) phospho-Ctnnb1 [cytosol] (R-MMU-8942363) Ctnnb1 [plasma membrane] (R-MMU-9038440)	0.623	8
UniProt:O14640 DVL1	4	pp-DVL1 [cytosol] (R-HSA-3772396) p-S-DVL1 [cytosol] (R-HSA-201700) DVL1 [cytosol] (R-HSA-201687) ub-DVL1 [cytosol] (R-HSA-4641157)	0.623	6
UniProt:Q12959 DLG1	4	DLG1 [cytosol] (R-HSA-416332) DLG1 [endoplasmic reticulum membrane] (R-HSA-9610593) DLG1 [transport vesicle membrane] (R-HSA-9610631) DLG1 [plasma membrane] (R-HSA-375977)	0.623	2
UniProt:Q96N96-1 SPATA13			0.619	5
UniProt:O14641 DVL2	5	pp-DVL2 [cytosol] (R-HSA-3772398) p-DVL2 [cytosol] (R-HSA-201706) p-DVL2 [clathrin-coated endocytic vesicle] (R-HSA-5138444) DVL2 [cytosol] (R-HSA-201694) ub-DVL2 [cytosol] (R-HSA-4652689)	0.564	2
UniProt:Q9NSA3 CTNNBIP1	1	CTNNBIP1 [nucleoplasm] (R-HSA-3772388)	0.564	2
UniProt:Q14114 LRP8	2	p-Y-LRP8 [plasma membrane] (R-HSA-432136) LRP8 [plasma membrane] (R-HSA-432113)	0.558	2
IntAct:EBI-6876712 CTNB1			0.499	6

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