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

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 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 Shimizu, Y, Ikeda, S, Fujimori, M, Kodama, S, Nakahara, M, Okajima, M, Asahara, T	Genes Chromosomes Cancer	2002
1338904	Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC gene Miyoshi, Y, Nagase, H, Ando, H, Horii, A, Ichii, S, Nakatsuru, S, Aoki, T, Miki, Y, Mori, T, Nakamura, Y	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:hsa:324 APC

Monarch:324 APC

NCBI Gene:324 APC

OMIM:611731 APC

UCSC:P25054 APC

Reference Transcript

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 [cytosol]

APC(778-2843) [cytosol]

APC(1-777) [cytosol]

K63polyUb-APC [cytosol]

p-ub-APC [cytosol]

APC [nucleoplasm]

APC E1554* [cytosol]

APC I1417 fs*2 [cytosol]

APC S811* [cytosol]

APC Q1338* [cytosol]

APC F1197* [cytosol]

APC E1544* [cytosol]

APC Q1406* [cytosol]

APC E1397* [cytosol]

APC E1451* [cytosol]

APC S1539* [cytosol]

APC S1392* [cytosol]

APC Q886* [cytosol]

APC Y1376* [cytosol]

APC G1412* [cytosol]

APC S1315* [cytosol]

APC S895* [cytosol]

APC E1306* [cytosol]

APC S943* [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_001341824.1, NP_000029.2, NP_001341832.1, NP_001120982.1, NP_001394379.1, NP_001394387.1, NP_001120983.2, NP_001394389.1, NP_001394388.1

COSMIC

COSV57321313

OpenTargets

ENSG00000134982

ENSEMBL

ENST00000509732, ENSP00000423828, ENSP00000427089, ENST00000508376, ENST00000257430, ENSG00000134982, ENST00000512211, ENSP00000257430, ENSP00000426541, ENST00000507379, ENSP00000423224

Mondo

0005575

GeneCards

APC

HPA

ENSG00000134982-APC

PRO

P25054

Pharos - Targets

P25054

GlyGen

P25054

Orphanet

APC

PDB

5IZ8, 1T08, 5IZ9, 1EMU, 4G69, 5IZA, 5Z8H, 3NMZ, 2RQU, 8GSJ, 4YJE, 7F7O, 3AU3, 3NMX, 3NMW, 3RL8, 4YK6, 3RL7, 1M5I, 8X2Q, 1JPP, 1V18, 3QHE, 1TH1, 7XTY, 4YJL, 5IZ6, 1DEB, 7F6M, 3T7U, 5B6G

Interactors (45)

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) CTNNB1 [nucleoplasm] (R-HSA-3451168) CTNNB1 [cytosol] (R-HSA-448839) CTNNB1(1-115) [cytosol] (R-HSA-202930) CTNNB1(116-376) [cytosol] (R-HSA-202950) 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) CTNNB1 [plasma membrane] (R-HSA-9038440) p-Y-CTNNB1 [cytosol] (R-HSA-8876940) p-S552-CTNNB1 [cytosol] (R-HSA-3134933) p-S552-CTNNB1 [nucleoplasm] (R-HSA-3134926)	0.962	22
UniProt:O15169 AXIN1	11	AXIN1 [cytosol] (R-HSA-195249) p-T481,S486,S493-AXIN1 [cytosol] (R-HSA-206040) Ub-RibC-AXIN1 [cytosol] (R-HSA-3640864) RibC-AXIN1 [cytosol] (R-HSA-3640841) ub-AXIN1 [cytosol] (R-HSA-4641133) 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)	0.845	17
UniProt:Q12959 DLG1	4	DLG1 [plasma membrane] (R-HSA-375977) DLG1 [transport vesicle membrane] (R-HSA-9610631) DLG1 [endoplasmic reticulum membrane] (R-HSA-9610593) DLG1 [cytosol] (R-HSA-416332)	0.842	11
UniProt:Q15691 MAPRE1	1	MAPRE1 [cytosol] (R-HSA-376240)	0.825	6
UniProt:P49841 GSK3B	5	GSK3B [nucleoplasm] (R-HSA-2022823) GSK3B [cytosol] (R-HSA-2997551) p-S9-GSK3B [cytosol] (R-HSA-3149577) GSK3B [endoplasmic reticulum lumen] (R-HSA-9931408) GSK3B del304-316 [cytosol] (R-HSA-5339682)	0.816	6
UniProt:Q13363 CTBP1	3	CTBP1 [nucleoplasm] (R-HSA-212372) polySUMO2,3-K428-CTBP1 [nucleoplasm] (R-HSA-3108226) monoSUMO1-K428-CTBP1 [nucleoplasm] (R-HSA-3108200)	0.802	6
UniProt:Q14160 SCRIB	1	SCRIB [cytosol] (R-HSA-4608858)	0.775	8
UniProt:Q9NSA3 CTNNBIP1	1	CTNNBIP1 [nucleoplasm] (R-HSA-3772388)	0.744	5
UniProt:P49674 CSNK1E	2	CSNK1E [cytosol] (R-HSA-205877) CSNK1E [nucleoplasm] (R-HSA-421306)	0.738	8
UniProt:Q5JTC6 AMER1	5	AMER1 [cytosol] (R-HSA-1504189) AMER1 R353* [cytosol] (R-HSA-9663939) AMER1 R358* [cytosol] (R-HSA-4839640) AMER1 S210* [cytosol] (R-HSA-5251492) AMER1 R497* [cytosol] (R-HSA-9663943)	0.723	4
UniProt:O14936 CASK	1	CASK [cytosol] (R-HSA-373631)	0.713	3
UniProt:P31946 YWHAB	1	YWHAB [cytosol] (R-HSA-48888)	0.706	4
UniProt:Q9HAP6 LIN7B	2	LIN7B [transport vesicle membrane] (R-HSA-9610415) LIN7B [plasma membrane] (R-HSA-5216107)	0.688	3
UniProt:O14907 TAX1BP3	1	TAX1BP3 [cytosol] (R-HSA-5666217)	0.688	5
UniProt:P60953 CDC42	4	CDC42 [plasma membrane] (R-HSA-449545) CDC42 [cytosol] (R-HSA-442630) Ub-CDC42 [plasma membrane] (R-HSA-9959463) CDC42 [endoplasmic reticulum membrane] (R-HSA-5672086)	0.668	9
UniProt:Q96N96 SPATA13	1	SPATA13 [cytosol] (R-HSA-9690931)	0.667	5
UniProt:Q07666 KHDRBS1	3	KHDRBS1 [nucleoplasm] (R-HSA-8848941) p-Y435,Y440,Y443-KHDRBS1 [nucleoplasm] (R-HSA-8848970) p-Y435,Y440,Y443-KHDRBS1 [cytosol] (R-HSA-8848995)	0.667	4
UniProt:Q9NR80-3 ARHGEF4			0.646	5
UniProt:Q9NUP9 LIN7C	2	LIN7C [plasma membrane] (R-HSA-5216165) LIN7C [transport vesicle membrane] (R-HSA-9610411)	0.643	3
UniProt:P14923 JUP	7	JUP [plasma membrane] (R-HSA-437260) JUP [cytosol] (R-HSA-201598) p-Y-JUP [cytosol] (R-HSA-9934829) JUP [ficolin-1-rich granule lumen] (R-HSA-6801028) JUP [extracellular region] (R-HSA-6806309) JUP [specific granule lumen] (R-HSA-6799534) JUP [cornified envelope] (R-HSA-8847739)	0.64	3
UniProt:P35221 CTNNA1	2	CTNNA1 [plasma membrane] (R-HSA-191735) CTNNA1 [cytosol] (R-HSA-191697)	0.64	3
UniProt:Q8N944 AMER3			0.631	8
UniProt:Q02248 Ctnnb1	15	Ctnnb1 [nucleoplasm] (R-MMU-3451168) Ctnnb1 [cytosol] (R-MMU-448839) Ctnnb1 [cytosol] (R-MMU-202930) Ctnnb1 [cytosol] (R-MMU-202950) Ctnnb1 [nucleoplasm] (R-MMU-9735212) 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) Ctnnb1 [plasma membrane] (R-MMU-9761458) phospho-Ctnnb1 [cytosol] (R-MMU-8876940) phospho-Ctnnb1 [nucleoplasm] (R-MMU-3134926) phospho-Ctnnb1 [cytosol] (R-MMU-3134933)	0.623	8
UniProt:Q12923 PTPN13	2	PTPN13 [nucleoplasm] (R-HSA-9008915) PTPN13 [plasma membrane] (R-HSA-8870318)	0.623	2
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:Q96N96-1 SPATA13			0.619	5
UniProt:Q96RT1 ERBIN	1	ERBIN [plasma membrane] (R-HSA-1358718)	0.592	2
UniProt:Q5T5U3 ARHGAP21	1	ARHGAP21 [cytosol] (R-HSA-8873918)	0.59	2
UniProt:Q15599 NHRF2			0.59	2
UniProt:P63104 YWHAZ	2	YWHAZ [cytosol] (R-HSA-206099) YWHAZ [nucleoplasm] (R-HSA-450469)	0.564	2
UniProt:O14641 DVL2	5	pp-DVL2 [cytosol] (R-HSA-3772398) p-DVL2 [cytosol] (R-HSA-201706) DVL2 [cytosol] (R-HSA-201694) p-DVL2 [clathrin-coated endocytic vesicle] (R-HSA-5138444) ub-DVL2 [cytosol] (R-HSA-4652689)	0.564	2
UniProt:Q14114 LRP8	2	p-Y-LRP8 [plasma membrane] (R-HSA-432136) LRP8 [plasma membrane] (R-HSA-432113)	0.558	2
UniProt:Q86T90 K1328			0.547	2
UniProt:O14513 NCKP5			0.547	2
UniProt:Q04695 KRT17	1	KRT17 [cytosol] (R-HSA-201583)	0.547	2
UniProt:P31947 SFN	1	SFN [cytosol] (R-HSA-1445105)	0.536	2
UniProt:Q8WTR8 NET5			0.527	2
UniProt:Q9NT22 EMILIN3	1	EMILIN3 [extracellular region] (R-HSA-2161272)	0.527	2
UniProt:Q9UKB1 FBXW11	2	FBXW11 [cytosol] (R-HSA-976035) FBXW11 [nucleoplasm] (R-HSA-9953055)	0.527	3
UniProt:Q16204 CCDC6			0.527	4
UniProt:Q9H9D4 ZN408			0.527	2
UniProt:Q9UI47 CTNA3			0.527	3
UniProt:Q9Y297 BTRC	2	BTRC [cytosol] (R-HSA-174237) BTRC [nucleoplasm] (R-HSA-3361753)	0.527	3
UniProt:P49748 ACADVL	1	ACADVL [mitochondrial matrix] (R-HSA-49495)	0.527	2
IntAct:EBI-6876712 CTNB1			0.499	6

Cite Us!