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This gene encodes a cytoplasmic protein which contains a regulation of G-protein signaling (RGS) domain and a dishevelled and axin (DIX) domain. The encoded protein interacts with adenomatosis polyposis coli, catenin beta-1, glycogen synthase kinase 3 beta, protein phosphate 2, and itself. This protein functions as a negative regulator of the wingless-type MMTV integration site family, member 1 (WNT) signaling pathway and can induce apoptosis. The crystal structure of a portion of this protein, alone and in a complex with other proteins, has been resolved. Mutations in this gene have been associated with hepatocellular carcinoma, hepatoblastomas, ovarian endometriod adenocarcinomas, and medullablastomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
AXIN1 (Axin 1) is a Protein Coding gene. Diseases associated with AXIN1 include Hepatocellular Carcinoma and Caudal Duplication Anomaly. Among its related pathways are Association Between Physico-Chemical Features and Toxicity Associated Pathways and Misspliced GSK3beta mutants stabilize beta-catenin. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein kinase binding. An important paralog of this gene is AXIN2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 9601641 |
GO:0008013 | beta-catenin binding | IEA,IDA | 10644691 |
GO:0019899 | enzyme binding | IPI | 19759537 |
GO:0019901 | protein kinase binding | ISS | -- |
GO:0030159 | receptor signaling complex scaffold activity | IMP | 16601693 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IDA | 12072559 |
GO:0005737 | cytoplasm | IEA,IDA | 12072559 |
GO:0005829 | cytosol | TAS | -- |
GO:0005886 | plasma membrane | IEA | -- |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Misspliced GSK3beta mutants stabilize beta-catenin | ||
2 | Gastric cancer |
.62
.62
|
|
3 | CDK-mediated phosphorylation and removal of Cdc6 | ||
4 | EphB-EphrinB Signaling |
EphB-EphrinB Signaling
.58
Ephrin-Eph Signaling
.58
|
Cytoskeleton remodeling Reverse signaling by ephrin B
.33
|
5 | Pathways of neurodegeneration - multiple diseases |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001934 | positive regulation of protein phosphorylation | IDA | 9601641 |
GO:0006915 | apoptotic process | IEA | -- |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0010800 | positive regulation of peptidyl-threonine phosphorylation | NAS | 18593713 |
GO:0016055 | Wnt signaling pathway | IEA,TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
1,4-Dithiothreitol | Experimental | Pharma | Target | 0 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||
SP4: | - | - | - | - | |||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||
SP6: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | AXIN1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | AXIN1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | AXIN1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Axin1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Axin1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | AXIN1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | AXIN1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | AXIN1 30 31 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | AXIN1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | axin1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | LOC398097 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | axin1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Axn 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs113073289 | Benign: not provided | 289,499(-) |
C/T NM_003502.4(AXIN1):c.2403G>A (p.Arg801=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
rs115321780 | Benign: not provided | 297,850(-) |
G/A NM_003502.4(AXIN1):c.1656C>T (p.Ala552=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
rs116350678 | Hepatocellular carcinoma (HCC) [MIM:114550] |
p.Gly425Ser |
|||
rs117208012 | Hepatocellular carcinoma (HCC) [MIM:114550] |
p.Gly650Ser |
|||
rs139163339 | Benign: not provided | 297,928(-) |
C/T NM_003502.4(AXIN1):c.1578G>A (p.Ala526=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1281n106 | CNV | deletion | 24896259 |
dgv32n68 | CNV | loss | 17160897 |
dgv4808n54 | CNV | loss | 21841781 |
dgv4809n54 | CNV | loss | 21841781 |
dgv769e212 | CNV | loss | 25503493 |
dgv770e212 | CNV | loss | 25503493 |
dgv771e212 | CNV | loss | 25503493 |
esv2422427 | CNV | duplication | 17116639 |
esv27385 | CNV | gain | 19812545 |
esv3581894 | CNV | loss | 25503493 |
esv3637563 | CNV | gain | 21293372 |
esv3637564 | CNV | gain | 21293372 |
esv3637565 | CNV | loss | 21293372 |
esv3637566 | CNV | gain | 21293372 |
esv3637567 | CNV | loss | 21293372 |
esv3637568 | CNV | gain | 21293372 |
esv3637569 | CNV | loss | 21293372 |
esv3637570 | CNV | gain | 21293372 |
nsv1071243 | CNV | deletion | 25765185 |
nsv1123000 | CNV | deletion | 24896259 |
nsv1125366 | OTHER | inversion | 24896259 |
nsv1134488 | CNV | deletion | 24896259 |
nsv1147691 | OTHER | inversion | 26484159 |
nsv515838 | CNV | loss | 19592680 |
nsv570947 | CNV | loss | 21841781 |
nsv570951 | CNV | loss | 21841781 |
nsv570954 | CNV | loss | 21841781 |
nsv827477 | CNV | gain | 20364138 |
nsv9319 | CNV | gain | 18304495 |
nsv952896 | CNV | deletion | 24416366 |
nsv952897 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hepatocellular carcinoma |
|
|
caudal duplication anomaly |
|
|
adult hepatocellular carcinoma |
|
|
familial adenomatous polyposis |
|
|
cherubism |
|
|