Reactome | AXIN1 L396M [cytosol]

AXIN1 L396M [cytosol]

Stable Identifier

R-HSA-5251503

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Icon

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 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 L396M [cytosol] (Homo sapiens)

Literature References

PubMed ID	Title	Journal	Year
10862053	Sequence variants of the axin gene in breast, colon, and other cancers: an analysis of mutations that interfere with GSK3 binding Webster, MT, Rozycka, M, Sara, E, Davis, E, Smalley, M, Young, N, Dale, TC, Wooster, R	Genes Chromosomes Cancer	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

HGNC:903 AXIN1

KEGG:hsa:8312 AXIN1

Monarch:8312 AXIN1

NCBI Gene:8312 AXIN1

OMIM:603816 AXIN1

UCSC:O15169 AXIN1

Reference Transcript

Participates

as a member of

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

Other forms of this molecule

AXIN1 [cytosol]

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

Ub-RibC-AXIN1 [cytosol]

RibC-AXIN1 [cytosol]

ub-AXIN1 [cytosol]

AXIN1 P255S [cytosol]

AXIN1 P354L [cytosol]

AXIN1 W247* [cytosol]

AXIN1 E406* [cytosol]

AXIN1 Y346* [cytosol]

Modified Residues

Name

L-leucine 396 replaced with L-methionine

Coordinate

396

PsiMod

L-methionine residue [MOD:00022]

A protein modification that effectively converts a source amino acid residue to L-methionine.

L-leucine removal [MOD:01641]

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

Disease

Name	Identifier	Synonyms
colorectal cancer	DOID:9256
cancer	DOID:162	malignant tumor, malignant neoplasm, primary cancer

Cross References

RefSeq

NP_851393.1, NP_003493.1

COSMIC

COSV51990449

OpenTargets

ENSG00000103126

ENSEMBL

ENSG00000103126, ENST00000354866, ENSP00000262320, ENST00000262320, ENSP00000346935

Mondo

0005575

GeneCards

AXIN1

HPA

ENSG00000103126-AXIN1

PRO

O15169

Pharos - Targets

O15169

Orphanet

AXIN1

HMDB Protein

HMDBP14519

PDB

4NM0, 6JCK, 1O9U, 3ZDI, 4B7T, 4NM3, 8VMG, 4NM5, 7Y1P, 7SXF, 5WZZ, 1DK8, 7SXG, 1EMU, 4NM7, 7SXH, 8RU3, 7SXJ, 8RU4, 4NU1

Interactors (65)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
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)	0.976	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) CTNNB1 [nucleoplasm] (R-HSA-3451168) CTNNB1 [cytosol] (R-HSA-448839) CTNNB1(1-115) [cytosol] (R-HSA-202930) CTNNB1(116-376) [cytosol] (R-HSA-202950) CTNNB1 [plasma membrane] (R-HSA-9038440) 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) p-Y-CTNNB1 [cytosol] (R-HSA-8876940) p-S552-CTNNB1 [cytosol] (R-HSA-3134933) p-S552-CTNNB1 [nucleoplasm] (R-HSA-3134926)	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 [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)	0.782	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 [cytosol] (R-HSA-205877) CSNK1E [nucleoplasm] (R-HSA-421306)	0.687	5
UniProt:P14923 JUP	7	JUP [plasma membrane] (R-HSA-437260) JUP [cytosol] (R-HSA-201598) p-Y-JUP [cytosol] (R-HSA-9934829) JUP [specific granule lumen] (R-HSA-6799534) JUP [extracellular region] (R-HSA-6806309) JUP [ficolin-1-rich granule lumen] (R-HSA-6801028) JUP [cornified envelope] (R-HSA-8847739)	0.666	4
UniProt:P48729 CSNK1A1	3	CSNK1A1 [nucleoplasm] (R-HSA-9943726) CSNK1A1 [cytosol] (R-HSA-195263) CSNK1A1 [cilium] (R-HSA-5632507)	0.643	4
UniProt:P67775 PPP2CA	4	PPP2CA [cytosol] (R-HSA-165971) PPP2CA [nucleoplasm] (R-HSA-165978) p-Y307-PPP2CA [cytosol] (R-HSA-8857939) MeL-PPP2CA [nucleoplasm] (R-HSA-8857791)	0.643	4
UniProt:Q9H7D7 WDR26	1	WDR26 [cytosol] (R-HSA-9861584)	0.641	4
UniProt:P01106 MYC	2	MYC [nucleoplasm] (R-HSA-188379) PolyUb-MYC [nucleoplasm] (R-HSA-6783169)	0.623	10
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)	0.59	3
UniProt:Q9UKB1 FBXW11	2	FBXW11 [cytosol] (R-HSA-976035) FBXW11 [nucleoplasm] (R-HSA-9953055)	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
UniProt:Q9BYR5 KRTAP4-2	1	KRTAP4-2 [cytosol] (R-HSA-6809948)	0.556	3
IntAct:EBI-16436498 CCSB ORF ID			0.556	3
UniProt:Q9H257-2 CARD9			0.556	3
UniProt:Q13137 CACO2			0.556	3
UniProt:Q5JR59-3 MTUS2			0.556	3
UniProt:Q12933 TRAF2	5	TRAF2 [cytosol] (R-HSA-66370) PolyUb-TRAF2 [cytosol] (R-HSA-6782848) K63polyUb-TRAF2 [cytosol] (R-HSA-8862193) K63polyUb-TRAF2 [nucleoplasm] (R-HSA-8862194) TRAF2 [nucleoplasm] (R-HSA-8862199)	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: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:Q9UBB9 TFIP11	1	TFIP11 [nucleoplasm] (R-HSA-8869310)	0.556	3
UniProt:O15105 SMAD7	2	SMAD7 [nucleoplasm] (R-HSA-178197) SMAD7 [cytosol] (R-HSA-173478)	0.556	8
UniProt:P14373 TRIM27	2	TRIM27 [cytosol] (R-HSA-8851002) TRIM27 [nucleoplasm] (R-HSA-2997690)	0.556	3
UniProt:P63165 SUMO1	11	lysyl-G97-SUMO1 [nucleoplasm] (R-HSA-9761562) SUMO1(2-101) [nucleoplasm] (R-HSA-2990831) SUMO1 [nucleoplasm] (R-HSA-877304) UBA2-G97-SUMO1 [nucleoplasm] (R-HSA-3730616) UBE2I-G97-SUMO1 [nucleoplasm] (R-HSA-3730622) lysyl-G97-SUMO1 [cytosol] (R-HSA-9762266) lysyl-G97-SUMO1 [endoplasmic reticulum-Golgi intermediate compartment membrane] (R-HSA-9762380) UBE2I-G97-SUMO1 [cytosol] (R-HSA-4656941) lysyl-G97-SUMO1 [viral capsid] (R-HSA-9762386) lysyl-G97-SUMO1 [nucleolus] (R-HSA-9762385) lysyl-G97-SUMO1 [plasma membrane] (R-HSA-9762382)	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	LRP6 [plasma membrane] (R-HSA-206252) p-4S,3T,T1479,S1490,T1493-LRP6 [plasma membrane] (R-HSA-1458895) p-2S,S1490,2T-LRP6 [plasma membrane] (R-HSA-1458894) LRP6N [extracellular region] (R-HSA-5334021) p-LRP6 [early endosome membrane] (R-HSA-5368496) LRP6 [early endosome membrane] (R-HSA-5368481) p-S1490-LRP6 [plasma membrane] (R-HSA-206156) p-T1479,S1490,T1493-LRP6 [plasma membrane] (R-HSA-205884)	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:P62136 PPP1CA	2	PPP1CA [cytosol] (R-HSA-163525) PPP1CA [nucleoplasm] (R-HSA-61995)	0.524	4
UniProt:Q5VWQ8-2 DAB2IP			0.524	2
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	CRMP1 [cytosol] (R-HSA-398120) p-S522-CRMP1 [cytosol] (R-HSA-399779) p-T509,T514,S518,S522-CRMP1 [cytosol] (R-HSA-399777) p-Y-CRMP1 [cytosol] (R-HSA-399784)	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:P35813 PPM1A	2	PPM1A [nucleoplasm] (R-HSA-205813) PPM1A [cytosol] (R-HSA-380928)	0.499	2
UniProt:P46937 YAP1	8	YAP1 [cytosol] (R-HSA-1253345) YAP1 [nucleoplasm] (R-HSA-1253322) p-5S-YAP1 [cytosol] (R-HSA-2028554) p-S127-YAP1 [cytosol] (R-HSA-2028553) p-Y-YAP1 [nucleoplasm] (R-HSA-8937857) p-Y-YAP1 [cytosol] (R-HSA-8937843) p-Y407-YAP1 [nucleoplasm] (R-HSA-8956661) p-Y407-YAP1 [cytosol] (R-HSA-9865208)	0.499	11
UniProt:P29590 PML	5	PML [cytosol] (R-HSA-5624327) PML [nucleoplasm] (R-HSA-1031706) monoSUMO1-K65,160,490-PML [nucleoplasm] (R-HSA-3000440) polySUMO2-K65,K160,K490-PML [nucleoplasm] (R-HSA-3000423) polySUMO3-K65,K160,K490-PML [nucleoplasm] (R-HSA-3000386)	0.463	2
UniProt:Q99ML9 Rnf111	3	Rnf111 [cytosol] (R-MMU-975981) Rnf111 [nucleoplasm] (R-MMU-2186735) Rnf111 [nucleoplasm] (R-MMU-2186765)	0.463	5

Cite Us!