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Aliases & Descriptions for AXIN1
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases AXIN 2 , 3 , 5 MGC52315 2 hAxin 3
Descriptions Axis inhibition protein 1 2 , 3 axin 1 2 axis inhibitor 1 2 fused, mouse, homolog of 2
Search outside databases for aliases for AXIN1 genePrevious GC identifer: GC16M000356
Summaries for AXIN1 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for AXIN1 : 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 adenomatosispolyposis coli, catenin (cadherin-associated protein), beta 1, 88kDa, glycogen synthase kinase 3beta, protein phosphate 2, and itself. This protein functions as a negative regulator of thewingless-type MMTV integration site family, member 1 (WNT) signaling pathway and can induceapoptosis. The crystal structure of a portion of this protein, alone and in a complex with otherproteins, has been resolved. Mutations in this gene have been associated with hepatocellularcarcinoma, hepatoblastomas, ovarian endometriod adenocarcinomas, and medullablastomas. Twotranscript variants encoding distinct isoforms have been identified for this gene. [provided byRefSeq] UniProtKB/Swiss-Prot: AXN1_HUMAN, O15169 Function : Controls dorsoventral patterning via two opposing effects; down-regulates beta-catenin toinhibit the Wnt signaling pathway and ventralize embryos, but also dorsalizes embryos byactivating a Wnt-independent JNK signaling pathway. In Wnt signaling, probably facilitates thephosphorylation of beta-catenin and APC by GSK3B. Likely to function as a tumor suppressor.Facilitates the phosphorylation of TP53 by HIPK2 upon ultraviolet irradiation. Wild-type axin 1can induce apoptosis in hepatocellular and colorectal cancer cells. Enhances TGF-beta signaling byrecruiting the RNF111 E3 ubiquitin ligase and promoting the degradation of inhibitory SMAD7
Gene Wiki entry for AXIN1
Genomic Location for AXIN1
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the AXIN1 gene Entrez Gene cytogenetic band: 16p13.3 Ensembl cytogenetic band: 16p13.3 HGNC cytogenetic band: 16p13.3 AXIN1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 16 GeneLoc Exon Structure
GeneLoc location for GC16M000277:
(about GC identifiers )
Start:
277,441 bp from pter
End:
342,465 bp from pter
Size:
65,025 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000016.8 NT_037887.4 Proteins for AXIN1
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: AXN1_HUMAN, O15169 (See
protein sequence )Recommended Name: Axin-1 Size : 862 amino acids; 95635 Da
Subunit : Homodimer (By similarity). Interacts with TP53 and HIPK2. Probably part of a complexconsisting of TP53, HIPK2 and AXIN1. Interacts with glycogen synthase kinase-3 beta (GSK3B) andbeta-catenin. The interaction between axin and beta-catenin occurs via the armadillo repeatscontained in beta-catenin. Ternary complex. Also binds to plakoglobin (gamma-catenin), APC, DVLand PP2A. Interacts with SMAD6, SMAD7 and RNF111. Interacts with DIXDC1; prevents interaction withMAP3K1. Interacts with MAP3K4, MDFI and MDFIC. Interacts with ANKRD6. Interacts with AIDA
Subcellular location : Cytoplasm
PDB structure from and Proteopedia : 1DK8 (3D)
 1EMU (3D)
 
Secondary accessions : Q4TT26 Q4TT27 Q86YA7 Q8WVW6 Q96S28Alternative splicing : 2 isoforms : O15169-1 O15169-2
Post-translational modifications:
Probably phosphorylated by GSK3B and dephosphorylated by PP2A1
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_003493.1 NP_851393.1 ENSEMBL proteins: ENSP00000262320 ENSP00000346935 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 5/7 Gene Ontology (GO) cellular component terms (links to tree view) (see all 7
):
About this table Antibodies for AXIN1: Invitrogen Antibodies for AXIN1 Millipore Mono- and Polyclonal Antibodies for the study of AXIN1 Sigma-Aldrich Antibodies for AXIN1 R&D Systems Antibodies for AXIN1 (Axin-1) Cell Signaling Technology (CST) Antibodies for AXIN1   Antibodies from Abcam (Axin 1 ), each with their Abpromise SM Monoclonal and Polyclonal Antibodies from Abnova (AXIN1 ) Novus Biologicals Antibodies for AXIN1
Assays for AXIN1:
Protein
Domains/ Families for AXIN1(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry O15169 ProtoNet protein and cluster: O15169
1 Blocks protein family : IPB000342 Regulator of G-protein signalling (RGS) protein signature UniProtKB/Swiss-Prot: AXN1_HUMAN, O15169 Similarity : Contains 1 DIX domainSimilarity : Contains 1 RGS domain
Gene Function for AXIN1
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_003502 Applied Biosystems Silencer ® siRNAs for AXIN1 Sigma-Aldrich siRNA and siRNA Panels for AXIN1 Sigma-Aldrich shRNA for AXIN1 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_003502                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_003502                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_003502  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_003502 UniProtKB/Swiss-Prot: AXN1_HUMAN, O15169 Function : Controls dorsoventral patterning via two opposing effects; down-regulates beta-catenin toinhibit the Wnt signaling pathway and ventralize embryos, but also dorsalizes embryos byactivating a Wnt-independent JNK signaling pathway. In Wnt signaling, probably facilitates thephosphorylation of beta-catenin and APC by GSK3B. Likely to function as a tumor suppressor.Facilitates the phosphorylation of TP53 by HIPK2 upon ultraviolet irradiation. Wild-type axin 1can induce apoptosis in hepatocellular and colorectal cancer cells. Enhances TGF-beta signaling byrecruiting the RNF111 E3 ubiquitin ligase and promoting the degradation of inhibitory SMAD7
Genatlas biochemistry entry for AXIN1 :axin 1,ubiquitously expressed (in mouse),negative regulator of the Wnt signaling pathway,promotingthe GSK3B dependent phosphorylation of beta catenin CTNNB1
15/16 MGI mutant phenotypes (inferred from 8 alleles ) (MGI details for Axin1) (see all 16
):5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6
):
About this table
Pathways & Interactions for AXIN1
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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5/9 Sigma-Aldrich "Your Favorite Gene" Pathways for AXIN1 (Your Favorite Gene powered by Ingenuity) (see all 9
) Gene Network CentralTM Interacting Genes and Proteins Network for AXIN1 5/23 Interacting proteins for AXIN1 (O15169 1 , 2 ) via UniProtKB, MINT, and/or STRING (see all 23
)Interactant Interaction Details GeneCard External ID(s) GSK3B P49841 1 , 2 EBI-710484, EBI-373586 MINT-7025816 MINT-7025707 MINT-7025684 MINT-4508259 EBI-710484, EBI-373586 MINT-7025816 MINT-7025707 MINT-7025684 MINT-4508259 ANP32A P39687 1 , 2 EBI-710484, EBI-359234 MINT-64311 EBI-710484, EBI-359234 MINT-64311 CRMP1 Q14194 1 , 2 EBI-710484, EBI-473101 MINT-64312 EBI-710484, EBI-473101 MINT-64312 SMYD2 Q9NRG4 1 EBI-710484, EBI-1055671 Ctnnb1 Ctnnb1 (xeno) Q02248 1 EBI-710484, EBI-397872
About this table 5/10 Gene Ontology (GO) biological process terms (links to tree view) (see all 10
):
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Drugs & Compounds for AXIN1 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for AXIN1
Transcripts for AXIN1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_003502 Sigma-Aldrich siRNA and siRNA Panels for AXIN1 Sigma-Aldrich shRNA for AXIN1 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_003502 NM_181050
REFSEQ mRNAs for AXIN1 gene (2 alternative transcripts): NM_003502.2 NM_181050.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_003502 NM_181050
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_003502                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_003502                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_003502  
Additional cDNA sequence: AB208876.1 AF009674.1 BC017447.1 BC035872.1 BC044648.1 BX648449.1 CR599188.1
7 DOTS entries : DT.100814372 DT.101976503 DT.97773274 DT.454035 DT.100718839 DT.311122 DT.95375801
24/139 AceView cDNA sequences (see all 139
):AL044979 AL045145 NM_181050 BE018188 BI770541 BQ224891 BC044648 CR599188 NM_003502 BM765977 BQ428141 BC017447 BQ682318 AA355700 AL555682 BE301667 BX389979 AI625483 BF091963 AW273130 BU634202 BQ440991 BU500157 BU855932
highest scoring ESTs for AXIN1 :AF009674 AL526136 BC044648 BQ056686 AA121433 AA122137 AA303032 AA303033 AA338446 AA352281
Unigene Cluster for AXIN1: Axin 1 Hs.592082 [show with all ESTs ] Unigene Representative Sequence: AB208876 GeneLoc Exon Structure 5/6 Alternative Splicing Database (ASD) splice patterns (SP) for AXIN1 (see all 6
) ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b SP1 :                       -   -         SP2 :                                 SP3 :                                 SP4 :               -   -       -   -         SP5 :                                
About this scheme ECgene alternative splicing isoforms for AXIN1 2 Ensembl transcripts including schematic representations : ENST00000262320
ENST00000354866
Expression for AXIN1
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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AXIN1 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for AXIN1 1 / 2 / 3
3 probe-sets matching AXIN1 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: CGATGACACTSOURCE GeneReport for Unigene cluster: Hs.592082 Expression variation in blood from EXPOLDB for AXIN1
UniProtKB/Swiss-Prot: AXN1_HUMAN, O15169 Tissue specificity : Ubiquitously expressed
Orthologs for AXIN1
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for AXIN1 gene from 5/10 species (see all 10
)
About this table Species with no ortholog for AXIN1 ENSEMBL Gene Tree for AXIN1 Paralogs for AXIN1 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for AXIN1 gene AXIN2 2
SNPs/Variants for AXIN1 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for AXIN1 (up to first 250kb)
Disorders & Mutations for AXIN1
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 603816 disorders : 114550 607864 UniProtKB/Swiss-Prot: AXN1_HUMAN, O15169
Defects in AXIN1 are involved in hepatocellular carcinoma (HCC) [MIM:114550] Hypermethylation of the AXIN1 promoter may be associated with caudal duplication anomaly[MIM:607864]. Caudal duplication anomaly is characterized by the occurrence of duplications ofdifferent organs in the caudal region
10/13 Novoseek disease relationships for AXIN1 gene (see all 13
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
caudal duplication anomaly
93.99
2
16773576 (2)
familial adenomatous polyposis
68.79
3
14970870 (1), 15520370 (1), 15488029 (1)
medulloblastoma
61.72
7
12555076 (3), 11585731 (1), 12209999 (1)
colon cancer
50.01
4
9601641 (1), 11526492 (1), 17143297 (1), 11691783 (1)
hepatocellular carcinoma
43.61
4
11526492 (1), 18592156 (1), 10700176 (1)
colorectal cancer
38.88
5
14566817 (2), 17534895 (1), 10700176 (1)
cancer
31.83
6
15735151 (1), 11170292 (1), 16465433 (1), 10700176 (1) (see all 5 )
tumors
30.63
6
16867867 (2), 16773180 (1), 11719457 (1), 12439747 (1) (see all 5 )
cervical cancer
8.88
2
12883680 (2)
carcinoma squamous cell
6.49
1
18497987 (1)
About this table Human Gene Mutation Database : AXIN1 Genetic Association Database: AXIN1 Human Genome Epidemiology Navigator: AXIN1 (2 documents)
Medical News for AXIN1 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for AXIN1 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/125 PubMed articles for AXIN1 gene (see all 125
): The mouse Fused locus encodes Axin, an inhibitor of the Wnt signaling pathway that regulates embryonic axis formation. (PubMed id 9230313) 2, 3, 4 Zeng L.... Costantini F. (1997) AXIN1 mutations in hepatocellular carcinomas, and growth suppression in cancer cells by virus-mediated transfer of AXIN1. (PubMed id 10700176) 1, 3, 4 Satoh S.... Nakamura Y. (2000) Increased DNA methylation at the AXIN1 gene in a monozygotic twin from a pair discordant for a caudal duplication anomaly. (PubMed id 16773576) 1, 3, 4 Oates N.A.... Chong S. (2006) Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas. (PubMed id 15520370) 1, 3, 6 Fearnhead N.S....Bodmer W.F. (2004) Axin is a scaffold protein in TGF-beta signaling that promotes degradation of Smad7 by Arkadia. (PubMed id 16601693) 3, 4 Liu W.... Lin S.-C. (2006) The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553) 3, 4 Martin J.... Pennacchio L.A. (2004) The DIX domain protein coiled-coil-DIX1 inhibits c-Jun N-terminal kinase activation by Axin and dishevelled through distinct mechanisms. (PubMed id 15262978) 3, 4 Wong C.K.... Lin S.-C. (2004) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) I-mfa domain proteins interact with Axin and affect its regulation of the Wnt and c-Jun N-terminal kinase signaling pathways. (PubMed id 12192039) 3, 4 Kusano S. and Raab-Traub N. (2002) Mutational spectrum of beta-catenin, AXIN1, and AXIN2 in hepatocellular carcinomas and hepatoblastomas. (PubMed id 12101426) 3, 4 Taniguchi K.... Liu W. (2002)
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Genome Databases showing AXIN1
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing AXIN1
(According to HUGE )
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Specialized Databases showing AXIN1 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for AXIN1 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for AXIN1:
Antibodies & Assays for AXIN1  
Search Tocris compounds for AXIN1
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009