Reactome | AXIN1 E406* [cytosol]

AXIN1 E406* [cytosol]

Stable Identifier

R-HSA-5251500

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

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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 AXIN mutants (Homo sapiens)
      - AXIN missense mutants destabilize the destruction complex (Homo sapiens)
        
        AXIN mutants destabilize the destruction complex (Homo sapiens)
        
        truncation and missense AXIN mutants [cytosol] (Homo sapiens)
        
        AXIN1 E406* [cytosol] (Homo sapiens)

Literature References

PubMed ID	Title	Journal	Year
10700176	AXIN1 mutations in hepatocellular carcinomas, and growth suppression in cancer cells by virus-mediated transfer of AXIN1 Miwa, N, Tokino, T, Furukawa, Y, Fujita, M, Daigo, Y, Nishiwaki, T, Nakamura, Y, Kato, T, Satoh, S, Kawasoe, T, Yamaoka, Y, Murata, M, Sasaki, Y, Ishiguro, H, Shimano, T, Imaoka, S	Nat. Genet.	2000

External Reference Information

External Reference

UniProt:O15169 AXIN1

Gene Names

AXIN1, AXIN

Chain

chain:1-862

Reference Genes

BioGPS Gene:8312 AXIN1

COSMIC (genes):AXIN1 AXIN1

CTD Gene:8312 AXIN1

dbSNP Gene:8312 AXIN1

ENSEMBL:ENSG00000103126 AXIN1

ENSEMBL_homo_sapiens_GENE:ENSG00000103126.15 AXIN1

HGNC:903 AXIN1

KEGG Gene (Homo sapiens):8312 AXIN1

Monarch:8312 AXIN1

NCBI Gene:8312 AXIN1

OMIM:603816 AXIN1

UCSC:O15169 AXIN1

Reference Transcript

Other Identifiers

11754511_a_at

16822408

212849_PM_at

212849_at

33319_at

3675048

3675049

3675051

3675053

3675055

3675056

3675057

3675058

3675059

3675062

3675066

3675069

3675070

3675090

3675091

3675092

7998211

8312

AF009674_at

GE61790

GO:0000209

GO:0001701

GO:0001932

GO:0001934

GO:0002039

GO:0005515

GO:0005634

GO:0005730

GO:0005737

GO:0005829

GO:0005856

GO:0005886

GO:0005938

GO:0006351

GO:0006355

GO:0006913

GO:0006915

GO:0007010

GO:0007605

GO:0008013

GO:0009950

GO:0009953

GO:0010629

GO:0010800

GO:0012501

GO:0015630

GO:0016020

GO:0016055

GO:0016328

GO:0019899

GO:0019901

GO:0019904

GO:0023052

GO:0030154

GO:0030163

GO:0030178

GO:0030511

GO:0030877

GO:0031122

GO:0031398

GO:0031410

GO:0031625

GO:0032147

GO:0032436

GO:0032991

GO:0033138

GO:0034244

GO:0035591

GO:0036211

GO:0036342

GO:0042802

GO:0042803

GO:0043161

GO:0043226

GO:0043621

GO:0044725

GO:0045599

GO:0045732

GO:0046330

GO:0046332

GO:0048318

GO:0048320

GO:0048468

GO:0048471

GO:0048856

GO:0050877

GO:0051248

GO:0060070

GO:0060090

GO:0060322

GO:0060828

GO:0065003

GO:0070016

GO:0070411

GO:0070412

GO:0071944

GO:0090090

GO:1990756

GO:1990909

GO:2000060

HMNXSV003035039

HMNXSV003043314

Hs.184434.0.S1_3p_at

ILMN_1692967

ILMN_1766185

PH_hs_0026858

TC16000725.hg

Participates

as a candidate of

truncation and missense AXIN mutants [cytosol] (Homo sapiens)

Other forms of this molecule

AXIN1 L396M [cytosol]

AXIN1 Y346* [cytosol]

AXIN1 W247* [cytosol]

AXIN1 P354L [cytosol]

AXIN1 P255S [cytosol]

ub-AXIN1 [cytosol]

Ub-RibC-AXIN1 [cytosol]

RibC-AXIN1 [cytosol]

p-T481,S486,S493-AXIN1 [cytosol]

AXIN1 [cytosol]

Modified Residues

Name

Nonsense mutation at L-glutamic acid 406

Coordinate

406

PsiMod

L-glutamic acid removal [MOD:01636]

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

Disease

Name	Identifier	Synonyms
hepatocellular carcinoma	DOID:684	adult Hepatoma, adult primary Liver carcinoma, Liver carcinoma, Hepatocellular carcinoma (morphologic abnormality), primary carcinoma of liver (disorder), hepatoma, Hepatoma, adult primary hepatocellular carcinoma, primary carcinoma of the liver cells, Hepatocellular carcinoma (clinical), Liver carcinoma, HCC, carcinoma of liver, specified as primary
cancer	DOID:162	malignant tumor, malignant neoplasm, primary cancer

Cross References

RefSeq

NP_003493.1, NP_851393.1

COSMIC

COSV51986188

OpenTargets

ENSG00000103126

HPA

ENSG00000103126-AXIN1

GeneCards

O15169

Ensembl

ENSP00000346935, ENST00000354866, ENSG00000103126, ENST00000262320, ENSP00000262320

PRO

O15169

Pharos - Targets

O15169

Orphanet

24358

HMDB Protein

HMDBP14519

PDB

3ZDI, 4B7T, 4NM3, 7SXJ, 7SXF, 4NU1, 4NM5, 4NM7, 7SXG, 1O9U, 1EMU, 1DK8, 5WZZ, 4NM0, 7SXH, 7Y1P, 6JCK

Interactors (65)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
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)	0.976	52
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)	0.94	44
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)	0.845	17
UniProt:P49840 GSK3A	3	GSK3A [cytosol] (R-HSA-198326) p-S21-GSK3A [cytosol] (R-HSA-198352) p-Y279-GSK3A [cytosol] (R-HSA-9635490)	0.802	6
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)	0.782	5
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)	0.708	7
UniProt:P49674 CSNK1E	2	CSNK1E [nucleoplasm] (R-HSA-421306) CSNK1E [cytosol] (R-HSA-205877)	0.687	5
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)	0.666	4
UniProt:P48729 CSNK1A1	2	CSNK1A1 [cytosol] (R-HSA-195263) CSNK1A1 [cilium] (R-HSA-5632507)	0.643	4
UniProt:P67775 PPP2CA	4	MeL-PPP2CA [nucleoplasm] (R-HSA-8857791) p-Y307-PPP2CA [cytosol] (R-HSA-8857939) PPP2CA [nucleoplasm] (R-HSA-165978) PPP2CA [cytosol] (R-HSA-165971)	0.643	4
UniProt:Q9H7D7 WDR26	1	WDR26 [cytosol] (R-HSA-9861584)	0.641	4
UniProt:P01106 MYC	2	PolyUb-MYC [nucleoplasm] (R-HSA-6783169) MYC [nucleoplasm] (R-HSA-188379)	0.623	10
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)	0.59	3
UniProt:Q9UKB1 FBXW11	1	FBXW11 [cytosol] (R-HSA-976035)	0.558	4
UniProt:Q7Z699 SPRED1	2	SPRED1 [plasma membrane] (R-HSA-5658225) SPRED1 [cytosol] (R-HSA-5654207)	0.556	3
UniProt:Q9BQ66 KR412			0.556	3
UniProt:Q99750 MDFI			0.556	3
UniProt:Q96KG9-4 SCYL1			0.556	3
UniProt:O94972 TRIM37	1	TRIM37 [cytosol] (R-HSA-976049)	0.556	3
UniProt:Q9C019 TRI15			0.556	3
UniProt:Q9UJV3-2 MID2			0.556	3
UniProt:Q969G2 LHX4	1	LHX4 [nucleoplasm] (R-HSA-9010585)	0.556	3
IntAct:EBI-16436498 CCSB ORF ID			0.556	3
UniProt:Q9BYR5 KRTAP4-2	1	KRTAP4-2 [cytosol] (R-HSA-6809948)	0.556	3
UniProt:Q9H257-2 CARD9			0.556	3
UniProt:Q13137 CACO2			0.556	3
UniProt:Q5JR59-3 MTUS2			0.556	3
UniProt:O43586 PSTPIP1	1	PSTPIP1 [cytosol] (R-HSA-879220)	0.556	3
IntAct:EBI-16436244 CCSB ORF ID			0.556	3
IntAct:EBI-16434222 CCSB ORF ID			0.556	3
UniProt:O75558 STX11			0.556	3
UniProt:Q96K21-3 ZFYVE19			0.556	3
UniProt:Q2TAC2-2 CCDC57			0.556	3
IntAct:EBI-16437007 CCSB ORF ID			0.556	3
IntAct:EBI-16429620 CCSB ORF ID			0.556	3
UniProt:Q15654 TRIP6			0.556	6
UniProt:Q9HCK0 ZBT26			0.556	3
UniProt:G2XKQ0 SUMO5			0.556	3
UniProt:Q6FHY5 Q6FHY5			0.556	3
UniProt:Q6A162 KRT40	1	KRT40 [cytosol] (R-HSA-6809605)	0.556	3
UniProt:P63165 SUMO1	11	lysyl-G97-SUMO1 [plasma membrane] (R-HSA-9762382) lysyl-G97-SUMO1 [nucleolus] (R-HSA-9762385) lysyl-G97-SUMO1 [viral capsid] (R-HSA-9762386) UBE2I-G97-SUMO1 [cytosol] (R-HSA-4656941) lysyl-G97-SUMO1 [endoplasmic reticulum-Golgi intermediate compartment membrane] (R-HSA-9762380) lysyl-G97-SUMO1 [cytosol] (R-HSA-9762266) UBE2I-G97-SUMO1 [nucleoplasm] (R-HSA-3730622) UBA2-G97-SUMO1 [nucleoplasm] (R-HSA-3730616) SUMO1 [nucleoplasm] (R-HSA-877304) SUMO1(2-101) [nucleoplasm] (R-HSA-2990831) lysyl-G97-SUMO1 [nucleoplasm] (R-HSA-9761562)	0.556	3
UniProt:P14373 TRIM27	2	TRIM27 [nucleoplasm] (R-HSA-2997690) TRIM27 [cytosol] (R-HSA-8851002)	0.556	3
UniProt:O15105 SMAD7	2	SMAD7 [nucleoplasm] (R-HSA-178197) SMAD7 [cytosol] (R-HSA-173478)	0.556	8
UniProt:Q12933 TRAF2	5	TRAF2 [nucleoplasm] (R-HSA-8862199) K63polyUb-TRAF2 [nucleoplasm] (R-HSA-8862194) K63polyUb-TRAF2 [cytosol] (R-HSA-8862193) PolyUb-TRAF2 [cytosol] (R-HSA-6782848) TRAF2 [cytosol] (R-HSA-66370)	0.556	3
UniProt:Q9UBB9 TFIP11	1	TFIP11 [nucleoplasm] (R-HSA-8869310)	0.556	3
UniProt:Q08379 GOLGA2	3	p-S37-GOLGA2 [Golgi membrane] (R-HSA-2172179) GOLGA2 [endoplasmic reticulum-Golgi intermediate compartment membrane] (R-HSA-2167933) GOLGA2 [Golgi membrane] (R-HSA-6808764)	0.556	3
UniProt:Q15172 PPP2R5A	2	p-S28-PPP2R5A [cytosol] (R-HSA-9836658) PPP2R5A [cytosol] (R-HSA-196235)	0.527	2
UniProt:Q93008 USP9X	1	USP9X [cytosol] (R-HSA-870499)	0.527	2
UniProt:O75581 LRP6	8	p-T1479,S1490,T1493-LRP6 [plasma membrane] (R-HSA-205884) p-S1490-LRP6 [plasma membrane] (R-HSA-206156) LRP6 [early endosome membrane] (R-HSA-5368481) p-LRP6 [early endosome membrane] (R-HSA-5368496) LRP6N [extracellular region] (R-HSA-5334021) p-2S,S1490,2T-LRP6 [plasma membrane] (R-HSA-1458894) p-4S,3T,T1479,S1490,T1493-LRP6 [plasma membrane] (R-HSA-1458895) LRP6 [plasma membrane] (R-HSA-206252)	0.527	9
IntAct:EBI-11789122 GSK3A			0.525	2
UniProt:G1T8E2 G1T8E2			0.525	2
UniProt:Q92837 FRAT1	1	FRAT1 [cytosol] (R-HSA-1226051)	0.525	3
UniProt:Q5VWQ8-2 DAB2IP			0.524	2
UniProt:P62136 PPP1CA	1	PPP1CA [cytosol] (R-HSA-163525)	0.524	4
UniProt:P04637 TP53	20	Unfolded TP53 [cytosol] (R-HSA-6813797) TP53 [cytosol] (R-HSA-8869337) PolyUb-TP53 [nucleoplasm] (R-HSA-6782509) polySUMO2,3-K386-TP53 [nucleoplasm] (R-HSA-2997661) TP53 F341C [nucleoplasm] (R-HSA-9726318) TP53 G334V [nucleoplasm] (R-HSA-9726126) TP53 L330H [nucleoplasm] (R-HSA-9726124) TP53 A347T [nucleoplasm] (R-HSA-9726339) TP53 R337C [nucleoplasm] (R-HSA-9726118) TP53 L344P [nucleoplasm] (R-HSA-9726075) TP53 L344R [nucleoplasm] (R-HSA-9726073) TP53 R337H [nucleoplasm] (R-HSA-9726169) TP53 R337P [nucleoplasm] (R-HSA-9726168) TP53 L330P [nucleoplasm] (R-HSA-9726136) TP53 L348S [nucleoplasm] (R-HSA-9726366) TP53 R337L [nucleoplasm] (R-HSA-9726163) TP53 K351E [nucleoplasm] (R-HSA-9726258) TP53 F338I [nucleoplasm] (R-HSA-9726358) TP53 R342P [nucleoplasm] (R-HSA-9726101) TP53 L330R [nucleoplasm] (R-HSA-9726133)	0.524	4
UniProt:P23258 TUBG1	1	TUBG1 [cytosol] (R-HSA-379269)	0.512	4
UniProt:Q14194 CRMP1	4	p-Y-CRMP1 [cytosol] (R-HSA-399784) CRMP1 [cytosol] (R-HSA-398120) p-T509,T514,S518,S522-CRMP1 [cytosol] (R-HSA-399777) p-S522-CRMP1 [cytosol] (R-HSA-399779)	0.508	2
UniProt:P39687 ANP32A	1	ANP32A [nucleoplasm] (R-HSA-450467)	0.508	2
UniProt:Q15583 TGIF1	1	TGIF1 [nucleoplasm] (R-HSA-2186594)	0.499	4
UniProt:Q60953-2 PML			0.499	2
UniProt:P49407 ARRB1	6	ARRB1 [cytosol] (R-HSA-264470) PolyUb-ARRB1 [cytosol] (R-HSA-6783186) ARRB1 [endocytic vesicle membrane] (R-HSA-9910882) ARRB1 [lysosomal membrane] (R-HSA-432701) ARRB1 [Golgi membrane] (R-HSA-350831) ARRB1 [cytoplasmic vesicle membrane] (R-HSA-351187)	0.499	2
UniProt:P46937 YAP1	8	p-Y407-YAP1 [cytosol] (R-HSA-9865208) p-S127-YAP1 [cytosol] (R-HSA-2028553) p-5S-YAP1 [cytosol] (R-HSA-2028554) p-Y407-YAP1 [nucleoplasm] (R-HSA-8956661) p-Y-YAP1 [cytosol] (R-HSA-8937843) p-Y-YAP1 [nucleoplasm] (R-HSA-8937857) YAP1 [cytosol] (R-HSA-1253345) YAP1 [nucleoplasm] (R-HSA-1253322)	0.499	11
UniProt:P35813 PPM1A	2	PPM1A [cytosol] (R-HSA-380928) PPM1A [nucleoplasm] (R-HSA-205813)	0.499	2
UniProt:Q99ML9 Rnf111	3	RNF111 [cytosol] (R-MMU-975981) Rnf111 [nucleoplasm] (R-MMU-2186735) RNF111 [nucleoplasm] (R-MMU-2186765)	0.463	5
UniProt:P29590 PML	5	polySUMO3-K65,K160,K490-PML [nucleoplasm] (R-HSA-3000386) polySUMO2-K65,K160,K490-PML [nucleoplasm] (R-HSA-3000423) monoSUMO1-K65,160,490-PML [nucleoplasm] (R-HSA-3000440) PML [nucleoplasm] (R-HSA-1031706) PML [cytosol] (R-HSA-5624327)	0.463	2

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