| Tag | Content |
|---|---|
| UniProt Accession | AXIN1_HUMAN; O15169; |
| Entrez ID | 8312 |
| GenBank Protein ID | NM_003502.3; NM_181050.2; |
| GenBank Nucleotide ID | NP_003493.1; NP_851393.1; |
| Protein Name | Axin-1 (Axis inhibition protein 1) (hAxin) |
| Gene Name | AXIN1; AXIN |
| Organism | Homo sapiens |
| NCBI Taxa ID | 9606 |
| Functional Description | Component of the beta-catenin destruction complex required for regulating CTNNB1 levels through phosphorylation and ubiquitination, and modulating Wnt-signaling (PubMed:12192039, PubMed:27098453). Controls dorsoventral patterning via two opposing effects; down-regulates CTNNB1 to inhibit the Wnt signaling pathway and ventralize embryos, but also dorsalizes embryos by activating a Wnt-independent JNK signaling pathway (PubMed:12192039). In Wnt signaling, probably facilitates the phosphorylation of CTNNB1 and APC by GSK3B (PubMed:12192039). Likely to function as a tumor suppressor. Enhances TGF-beta signaling by recruiting the RNF111 E3 ubiquitin ligase and promoting the degradation of inhibitory SMAD7 (PubMed:16601693). Also component of the AXIN1-HIPK2-TP53 complex which controls cell growth, apoptosis and development (PubMed:17210684). Facilitates the phosphorylation of TP53 by HIPK2 upon ultraviolet irradiation (PubMed:17210684). |
| Sequence (Fasta) | MNIQEQGFPL DLGASFTEDA PRPPVPGEEG ELVSTDPRPA SYSFCSGKGV GIKGETSTAT 60 PRRSDLDLGY EPEGSASPTP PYLKWAESLH SLLDDQDGIS LFRTFLKQEG CADLLDFWFA 120 CTGFRKLEPC DSNEEKRLKL ARAIYRKYIL DNNGIVSRQT KPATKSFIKG CIMKQLIDPA 180 MFDQAQTEIQ ATMEENTYPS FLKSDIYLEY TRTGSESPKV CSDQSSGSGT GKGISGYLPT 240 LNEDEEWKCD QDMDEDDGRD AAPPGRLPQK LLLETAAPRV SSSRRYSEGR EFRYGSWREP 300 VNPYYVNAGY ALAPATSAND SEQQSLSSDA DTLSLTDSSV DGIPPYRIRK QHRREMQESV 360 QVNGRVPLPH IPRTYRVPKE VRVEPQKFAE ELIHRLEAVQ RTREAEEKLE ERLKRVRMEE 420 EGEDGDPSSG PPGPCHKLPP APAWHHFPPR CVDMGCAGLR DAHEENPESI LDEHVQRVLR 480 TPGRQSPGPG HRSPDSGHVA KMPVALGGAA SGHGKHVPKS GAKLDAAGLH HHRHVHHHVH 540 HSTARPKEQV EAEATRRAQS SFAWGLEPHS HGARSRGYSE SVGAAPNASD GLAHSGKVGV 600 ACKRNAKKAE SGKSASTEVP GASEDAEKNQ KIMQWIIEGE KEISRHRRTG HGSSGTRKPQ 660 PHENSRPLSL EHPWAGPQLR TSVQPSHLFI QDPTMPPHPA PNPLTQLEEA RRRLEEEEKR 720 ASRAPSKQRY VQEVMRRGRA CVRPACAPVL HVVPAVSDME LSETETRSQR KVGGGSAQPC 780 DSIVVAYYFC GEPIPYRTLV RGRAVTLGQF KELLTKKGSY RYYFKKVSDE FDCGVVFEEV 840 REDEAVLPVF EEKIIGKVEK VD 863 |
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| Database | Annotation |
|---|---|
| Cancer Gene Census | colorectal, endometrial, prostate, hepatocellular carcinoma, hepatoblastoma, sporadic medulloblastoma |
| CTD (Curated) (count: 2) | MESH:D006528
; Carcinoma, Hepatocellular MESH:C564315 ; Caudal Duplication Anomaly |
| HGMD (count: 3) | CM043741; Colorectal adenoma; Missense/nonsense
CM043742; Colorectal adenoma; Missense/nonsense CM043743; Colorectal adenoma; Missense/nonsense |
| GWASdb (count: 18) (view all) | rs117208012; Prostate cancer (advanced); prostate cancer
rs214246; Orofacial clefts; orofacial cleft rs7200589; Cognitive impairment induced by topiramate; cognitive disorder rs1204042; Urinary metabolites; kidney disease rs1981492; Alzheimer's disease (late onset); Alzheimer's disease rs11644916; Alzheimer's disease (late onset); Alzheimer's disease |
| PTM | Modification Sites |
|---|---|
| Phosphorylation (count: 31) (view all) | 148 ARAIYRKYILDNNGI dbPAF
160 NGIVSRQTKPATKSF dbPAF 213 IYLEYTRTGSESPKV dbPAF 215 LEYTRTGSESPKVCS dbPAF 217 YTRTGSESPKVCSDQ dbPAF 281 ETAAPRVSSSRRYSE dbPAF |
| Sumoylation (count: 2) | 857 FEEKIIGKVEKVD** PLMD
860 KIIGKVEKVD***** PLMD |