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AXIN1 Gene

protein-coding   GIFtS: 67
GCID: GC16M000338

Axin 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Axin 11 2     axin-12
AXIN2 3 5     Axis Inhibitor 12
Axis Inhibition Protein 12 3     Fused, Mouse, Homolog Of2
Protein Phosphatase 11     Protein Phosphatase 1, Regulatory Subunit 492
Regulatory Subunit 491     hAxin3
PPP1R492     

External Ids:    HGNC: 9031   Entrez Gene: 83122   Ensembl: ENSG000001031267   OMIM: 6038165   UniProtKB: O151693   

Export aliases for AXIN1 gene to outside databases

Previous GC identifers: GC16M000356 GC16M000277


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for AXIN1 Gene:
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. Two transcript variants encoding distinct isoforms
have been identified for this gene. (provided by RefSeq, Dec 2010)

GeneCards Summary for AXIN1 Gene:
AXIN1 (axin 1) is a protein-coding gene. Diseases associated with AXIN1 include hepatoblastoma, and caudal duplication. GO annotations related to this gene include protein kinase binding and protein homodimerization activity. An important paralog of this gene is AXIN2.

UniProtKB/Swiss-Prot: AXIN1_HUMAN, O15169
Function: Component of the beta-catenin destruction complex required for regulating CTNNB1 levels through
phosphorylation and ubiquitination, and modulating Wnt-signaling. 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. In Wnt signaling, probably facilitates
the phosphorylation of CTNNB1 and APC by GSK3B. Likely to function as a tumor suppressor. Facilitates the
phosphorylation of TP53 by HIPK2 upon ultraviolet irradiation. Enhances TGF-beta signaling by recruiting the
RNF111 E3 ubiquitin ligase and promoting the degradation of inhibitory SMAD7. Also component of the
AXIN1-HIPK2-TP53 complex which controls cell growth, apoptosis and development

Gene Wiki entry for AXIN1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000016.10  NT_010393.17  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the AXIN1 gene promoter:
         COUP-TF   AP-1   ATF-2   COUP   c-Jun   HNF-4alpha1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for AXIN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AXIN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

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)
AXIN1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M000338:  view genomic region     (about GC identifiers)

Start:
337,440 bp from pter      End:
402,676 bp from pter
Size:
65,237 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AXIN1_HUMAN, O15169 (See protein sequence)
Recommended Name: Axin-1  
Size: 862 amino acids; 95635 Da
Subunit: Homodimer. Interacts with ZBED3; the interaction is direct, enhanced by protein kinase GSK3B and casein
kinase CSNK1E activities and decreases GSK3B-induced beta-catenin serine and threonine phosphorylations (By
similarity). Component of the beta-catenin destruction complex, containing at least, CTNNB1, an axin and GSK3B,
that regulates CTNNB1 protein levels through phosphorylation and ubiquitination. Interacts with CTNNB1 (via the
armadillo repeats 2-7). Interacts with GSK3B; the interaction hyperphosphorylates CTNNB1 leading to its
ubiquitination and destruction. Component of the AXIN1-HIPK2-TP53 complex. Interacts directly in the complex with
TP53 and HIPK2. Interacts with DAXX; the interaction stimulates the interaction of DAXX with TP53, stimulates
'Ser-46' phosphorylation of TP53 and induces cell death on UV irradiation. Also binds APC, SMAD6, SMAD7 and
RNF111. Interacts with DIXDC1; prevents interaction with MAP3K1. Interacts with MAP3K4. Interacts with ANKRD6 and
AIDA (By similarity). Interacts with MDFI; the interaction decreases AXIN1-mediated JUN N-terminal kinase (JNK)
activation. Interacts with MDFIC; the interaction inhibits beta-cateninin-mediated signaling and AXIN1-mediated
JUN N-terminal kinase (JNK) activation. Interacts with LRP5 (via its phosphorylated PPPSP motifs); the
interaction is stimulated by WNT1 and GSK3B and activates beta-catenin signaling. Interacts (via the C-terminal)
with PPP1CA; the interaction dephosphorylates AXIN1 and regulates interaction with GSK3B. Interacts with PPP2CA;
the interaction dephosphorylates AXIN1. Interacts with MACF1 (By similarity). Found in a complex composed of
MACF1, APC, AXIN1, CTNNB1 and GSK3B (By similarity). Interacts with TNKS. Interacts with DAB2; the interaction is
mutually exclusive with the AXIN1:PPP1CA interaction
Sequence caution: Sequence=AAC51624.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
5 PDB 3D structures from and Proteopedia for AXIN1:
1DK8 (3D)        1EMU (3D)        1O9U (3D)        3ZDI (3D)        4B7T (3D)    
Secondary accessions: Q4TT26 Q4TT27 Q86YA7 Q8WVW6 Q96S28
Alternative splicing: 2 isoforms:  O15169-1   O15169-2   

Explore the universe of human proteins at neXtProt for AXIN1: NX_O15169

Explore proteomics data for AXIN1 at MOPED

Post-translational modifications: 

  • Phosphorylation and dephosphorylation of AXIN1 regulates assembly and function of the beta-catenin complex.
    Phosphorylated by CK1 and GSK3B. Dephosphorylated by PPP1CA and PPP2CA. Phosphorylation by CK1 enhances binding
    of GSK3B to AXIN11
  • ADP-ribosylated by tankyrase TNKS and TNKS2. Poly-ADP-ribosylated protein is recognized by RNF146, followed by
    ubiquitination at 'Lys-48' and subsequent activation of the Wnt signaling pathway1
  • Ubiquitinated by RNF146 when poly-ADP-ribosylated, leading to its degradation and subsequent activation of the Wnt
    signaling pathway. Sumoylation at Lys-857 and Lys-860 prevents ubiquitination and degradation. Sumoylation is
    required for AXIN1-mediated JNK activation. Deubiquitinated by USP34, deubiquitinated downstream of beta-catenin
    stabilization step: deubiquitination is important for nuclear accumulation during Wnt signaling to positively
    regulate beta-catenin (CTNBB1)-mediated transcription1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See AXIN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_003493.1  NP_851393.1  

    ENSEMBL proteins: 
     ENSP00000262320   ENSP00000346935   ENSP00000416835  
    Reactome Protein details: O15169

    AXIN1 Human Recombinant Protein Products:

    EMD Millipore Purified and/or Recombinant AXIN1 Protein
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for AXIN1
    OriGene Protein Over-expression Lysate for AXIN1
    OriGene MassSpec for AXIN1
    OriGene Custom Protein Services for AXIN1
    GenScript Custom Purified and Recombinant Proteins Services for AXIN1
    Novus Biologicals AXIN1 Proteins
    Novus Biologicals AXIN1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    AXIN1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of AXIN1
    R&D Systems Antibodies for AXIN1 (Axin-1)
    Cell Signaling Technology (CST) Antibodies for AXIN1  (axin 1)
    OriGene Antibodies for AXIN1
    OriGene Custom Antibody Services for AXIN1
    Novus Biologicals AXIN1 Antibodies
    Abcam antibodies for AXIN1
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for AXIN1
    LSBio Antibodies in human, mouse, rat for AXIN1

    AXIN1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for AXIN1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for AXIN1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PPP1R: Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits

    5 InterPro protein domains:
     IPR024066 Regulat_G_prot_signal_dom1
     IPR001158 DIX
     IPR014936 Axin_b-cat-bd
     IPR016137 Regulat_G_prot_signal_superfam
     IPR000342 RGS_dom

    Graphical View of Domain Structure for InterPro Entry O15169

    ProtoNet protein and cluster: O15169

    1 Blocks protein domain: IPB000342 Regulator of G-protein signalling (RGS) protein signature

    UniProtKB/Swiss-Prot: AXIN1_HUMAN, O15169
    Domain: The tankyrase-binding motif (also named TBD) is required for interaction with tankyrase TNKS and TNKS2
    Similarity: Contains 1 DIX domain
    Similarity: Contains 1 RGS domain


    AXIN1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AXIN1_HUMAN, O15169
    Function: Component of the beta-catenin destruction complex required for regulating CTNNB1 levels through
    phosphorylation and ubiquitination, and modulating Wnt-signaling. 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. In Wnt signaling, probably facilitates
    the phosphorylation of CTNNB1 and APC by GSK3B. Likely to function as a tumor suppressor. Facilitates the
    phosphorylation of TP53 by HIPK2 upon ultraviolet irradiation. Enhances TGF-beta signaling by recruiting the
    RNF111 E3 ubiquitin ligase and promoting the degradation of inhibitory SMAD7. Also component of the
    AXIN1-HIPK2-TP53 complex which controls cell growth, apoptosis and development

         Genatlas biochemistry entry for AXIN1:
    axin 1,ubiquitously expressed (in mouse),negative regulator of the Wnt signaling pathway,promoting the GSK3B
    dependent phosphorylation of beta catenin CTNNB1

         Gene Ontology (GO): Selected molecular function terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004871signal transducer activity IDA9601641
    GO:0005096GTPase activator activity IBA--
    GO:0005102receptor binding IEA--
    GO:0005515protein binding IPI10644691
    GO:0008013beta-catenin binding IDA10644691
         
    AXIN1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for AXIN1:
     Decreased influenza A/WSN/33 r  Upregulation of Wnt/beta-caten 

         Selected MGI mutant phenotypes (inferred from 10 alleles(MGI details for Axin1) (see all 17):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  growth/size/body  hearing/vestibular/ear  limbs/digits/tail  mortality/aging 
     nervous system  normal  other  renal/urinary system  reproductive system 

    AXIN1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Axin1tm1.2Dic for AXIN1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AXIN1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for AXIN1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AXIN1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AXIN1

    miRNA
    Products:
        
    miRTarBase miRNAs that target AXIN1:
    hsa-mir-769-3p (MIRT039102), hsa-mir-92a-3p (MIRT049195), hsa-mir-320a (MIRT044503), hsa-mir-320c (MIRT036160), hsa-mir-484 (MIRT041736), hsa-mir-335-5p (MIRT018487)

    Block miRNA regulation of human, mouse, rat AXIN1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AXIN1 (see all 17):
    hsa-miR-4251 hsa-miR-539 hsa-miR-137 hsa-miR-128 hsa-let-7a-2* hsa-miR-124 hsa-let-7g* hsa-miR-3613-3p
    SwitchGear 3'UTR luciferase reporter plasmidAXIN1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for AXIN1
    Predesigned siRNA for gene silencing in human, mouse, rat AXIN1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for AXIN1

    Clone
    Products:
         
    OriGene clones in human, mouse for AXIN1 (see all 12)
    OriGene ORF clones in mouse, rat for AXIN1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): AXIN1 (NM_181050)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AXIN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AXIN1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for AXIN1
    Browse ESI BIO Cell Lines and PureStem Progenitors for AXIN1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AXIN1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AXIN1_HUMAN, O15169: Cytoplasm. Nucleus. Membrane (By similarity). Cell membrane (By similarity). Note=MACF1 is
    required for its translocation to cell membrane (By similarity). On UV irradiation, translocates to the nucleus
    and colocalizes with DAAX
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    plasma membrane5
    cytosol4
    cytoskeleton3

    Gene Ontology (GO): Selected cellular component terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IDA12072559
    GO:0005737cytoplasm IDA12072559
    GO:0005794Golgi apparatus IEA--
    GO:0005829cytosol TAS--

    AXIN1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for AXIN1 About   (see all 29)  
    See pathways by source

    SuperPathContained pathways About
    1Wnt signaling pathway (KEGG)
    Wnt signaling pathway0.40
    Wnt Signaling Pathway NetPath0.37
    Wnt Signaling Pathways0.40
    2EphB-EphrinB Signaling
    EphB-EphrinB Signaling0.58
    Cytoskeleton remodeling Reverse signaling by ephrin B0.34
    Ephrin-Eph Signaling0.58
    3Wnt Signaling Pathway (WikiPathways)
    Wnt Signaling Pathway0.55
    DNA damage response (only ATM dependent)0.32
    Wnt Signaling Pathway and Pluripotency0.55
    4CDK-mediated phosphorylation and removal of Cdc6
    Degradation of beta-catenin by the destruction complex0.73
    Beta-catenin phosphorylation cascade0.00
    5Nanog in Mammalian ESC Pluripotency
    Nanog in Mammalian ESC Pluripotency0.61
    GSK3 Signaling0.61

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 R&D Systems Pathways for AXIN1
        Wnt Signaling Pathways
    Apoptosis Signaling Pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for AXIN1 (see all 15)
        Sertoli-Sertoli Cell Junction Dynamics
    Factors Promoting Cardiogenesis in Vertebrates
    Molecular Mechanisms of Cancer
    Ephrin-Eph Signaling
    G12-G13 in Cellular Signaling

    1 Cell Signaling Technology (CST) Pathway for AXIN1
        Wnt / Hedgehog / Notch

    1 GeneGo (Thomson Reuters) Pathway for AXIN1
        Cytoskeleton remodeling Reverse signaling by ephrin B

    Selected BioSystems Pathways for AXIN1 (see all 11)
        Wnt Signaling Pathway
    Wnt Signaling Pathway and Pluripotency
    DNA damage response (only ATM dependent)
    Neural Crest Differentiation
    TGF-beta Receptor Signaling Pathway

    5 Reactome Pathways for AXIN1
        disassembly of the destruction complex and recruitment of AXIN to the membrane
    degradation of AXIN
    Degradation of beta-catenin by the destruction complex
    Beta-catenin phosphorylation cascade
    TCF dependent signaling in response to WNT


    Selected Kegg Pathways  (Kegg details for AXIN1) (see all 6):
        Wnt signaling pathway
    Hippo signaling pathway
    Pathways in cancer
    Colorectal cancer
    Endometrial cancer


    AXIN1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including AXIN1: 
              WNT Signaling Pathway in human mouse rat
              Notch Signaling Pathway in human mouse rat
              Stem Cells in human mouse rat
              Adipogenesis in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for AXIN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for AXIN1 (O151691, 2, 3 ENSP000002623204) via UniProtKB, MINT, STRING, and/or I2D (see all 252)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011061, 2, 3, ENSP000003672074EBI-710484,EBI-447544 MINT-7025816 MINT-7040806 MINT-7025707 MINT-7040758 MINT-7040788 MINT-7025737 MINT-7025765 MINT-7025684 MINT-7040775 MINT-7025780 I2D: score=2 STRING: ENSP00000367207
    SMAD7O151051, 2, 3, ENSP000002621584EBI-710484,EBI-3861591 MINT-1899832 MINT-1953771 MINT-1953921 MINT-1953720 MINT-1953902 MINT-1953874 MINT-2779077 MINT-1953967 I2D: score=4 STRING: ENSP00000262158
    CTNNB1P352221, 2, 3, ENSP000003444564EBI-710484,EBI-491549 MINT-4508242 MINT-8403910 MINT-8284998 MINT-4508192 MINT-4508119 MINT-8403880 MINT-6823820 MINT-8277609 I2D: score=9 STRING: ENSP00000344456
    PPM1AP358131, 2, 3, ENSP000003272554EBI-710484,EBI-989143 MINT-8284998 MINT-8277668 MINT-8277635 MINT-8285031 MINT-8277609 MINT-8285013 I2D: score=1 STRING: ENSP00000327255
    GSK3BP498411, 2, 3, ENSP000003248064EBI-710484,EBI-373586 MINT-7025816 MINT-7025707 MINT-7025684 MINT-8403910 MINT-4508259 I2D: score=7 STRING: ENSP00000324806
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 53):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000209protein polyubiquitination IEA--
    GO:0001701in utero embryonic development IEA--
    GO:0001743optic placode formation IBA--
    GO:0001932regulation of protein phosphorylation ----
    GO:0001934positive regulation of protein phosphorylation IDA9601641

    AXIN1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for AXIN1

    1 DrugBank Compound for AXIN1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    1,4-Dithiothreitol-- --target----



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for AXIN1 gene (2 alternative transcripts): 
    NM_003502.3  NM_181050.2  

    Unigene Cluster for AXIN1:

    Axin 1
    Hs.592082  [show with all ESTs]
    Unigene Representative Sequence: NM_003502
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000461023 ENST00000262320(uc002cgp.2 uc002cgq.2) ENST00000354866
    ENST00000457798 ENST00000481769
    miRNA
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    Block miRNA regulation of human, mouse, rat AXIN1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AXIN1 (see all 17):
    hsa-miR-4251 hsa-miR-539 hsa-miR-137 hsa-miR-128 hsa-let-7a-2* hsa-miR-124 hsa-let-7g* hsa-miR-3613-3p
    SwitchGear 3'UTR luciferase reporter plasmidAXIN1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for AXIN1
    Predesigned siRNA for gene silencing in human, mouse, rat AXIN1
    Clone
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    OriGene clones in human, mouse for AXIN1 (see all 12)
    OriGene ORF clones in mouse, rat for AXIN1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): AXIN1 (NM_181050)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AXIN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AXIN1
    Primer
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    OriGene qPCR primer pairs and template standards for AXIN1
    OriGene qSTAR qPCR primer pairs in human, mouse for AXIN1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AXIN1
      QuantiTect SYBR Green Assays in human, mouse, rat AXIN1
      QuantiFast Probe-based Assays in human, mouse, rat AXIN1

    Additional mRNA sequence: 

    AF009674.1 BC017447.1 BC035872.1 BC044648.1 

    7 DOTS entries:

    DT.100814372  DT.97773274  DT.101976503  DT.454035  DT.100718839  DT.311122  DT.95375801 

    Selected AceView cDNA sequences (see all 139):

    BQ682318 BM765977 BC044648 BQ428141 NM_181050 CR599188 AL045145 BC017447 
    BE018188 BI770541 BQ224891 NM_003502 AL044979 BV189737 BE315156 AL526136 
    BM740953 BE301667 BQ673048 BU634202 BF763535 AI028020 BI554168 BX648449 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for AXIN1 (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b
    SP1:                                                                    -     -                     
    SP2:                                                                                                
    SP3:                                                                                                
    SP4:                                            -     -                 -     -                     
    SP5:                                                                                                


    ECgene alternative splicing isoforms for AXIN1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    AXIN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGATGACACT
    AXIN1 Expression
    About this image


    AXIN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Tooth (Integumentary System)    fully expand to see all 8 entries
             Odontoblasts Dentin
     
     Epithelial Cells
             Early Ameloblasts Dental Enamel
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Bone (Muscoskeletal System)
             Bone Marrow
    AXIN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AXIN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.592082

    UniProtKB/Swiss-Prot: AXIN1_HUMAN, O15169
    Tissue specificity: Ubiquitously expressed

        Pathway & Disease-focused RT2 Profiler PCR Arrays including AXIN1: 
              WNT Signaling Pathway in human mouse rat
              Notch Signaling Pathway in human mouse rat
              Stem Cells in human mouse rat
              Adipogenesis in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of animals.

    Orthologs for AXIN1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Axin11 , 5 axin 11, 5 83.64(n)1
    87.88(a)1
      17 (13.07 cM)5
    120051  NM_009733.21  NP_033863.21 
     261386885 
    chicken
    (Gallus gallus)
    Aves AXIN11 axin 1 73.16(n)
    74.94(a)
      395786  NM_204944.2  NP_990275.1 
    lizard
    (Anolis carolinensis)
    Reptilia AXIN16
    axin 1
    60(a)
    1 ↔ 1
    GL344563.1(15121-22363)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3980972 axin 77.61(n)    AF097313.1 
    zebrafish
    (Danio rerio)
    Actinopterygii axin12 axin 1 79.88(n)   57931  AB032262.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Axn6
    Axin
    24(a)
    1 → many
    3R(25848566-25861033)


    ENSEMBL Gene Tree for AXIN1 (if available)
    TreeFam Gene Tree for AXIN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AXIN1 gene
    AXIN22  
    4 SIMAP similar genes for AXIN1 using alignment to 3 protein entries:     AXIN1_HUMAN (see all proteins):
    DKFZp781B0869    AXIN2    RGS5    RGS8

    AXIN1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for AXIN1 (see all 1916)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1172080121,2,,4
    C,FHepatocellular carcinoma (HCC)4 --347063(+) GTGGCC/TGGTCC 4 S G mis13Minor allele frequency- T:0.02NA EU 5995
    rs1163506781,2,,4
    C,FHepatocellular carcinoma (HCC)4 --348233(+) ATCGCC/TGTCCT 4 S G mis11Minor allele frequency- T:0.08WA 118
    VAR_0155904
    Hepatocellular carcinoma (HCC)4--see VAR_0155902 P L mis40--------
    VAR_0155894
    Hepatocellular carcinoma (HCC)4--see VAR_0155892 L R mis40--------
    rs3955451,2
    C,H--337750(-) TCTGGC/GTGGGG 2 -- ut3114Minor allele frequency- G:0.01NS NA WA CSA EA 333
    rs1483417181,2
    C--337765(+) GGTACA/GTGGGC 2 -- ut310--------
    rs456032341,2
    C,F--337820(+) GGTGCC/TGGGGG 2 -- ut312Minor allele frequency- T:0.02NS 92
    rs2007255011,2
    --337826(+) GGGGA-/TTGGGG 2 -- ut310--------
    rs343964031,2
    C--337827(+) GGATG-/GGGGGG 2 -- ut310--------
    rs1930564251,2
    --337830(+) GATGGC/GGGGGG 2 -- ut310--------

    HapMap Linkage Disequilibrium report for AXIN1 (337440 - 402676 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for AXIN1 (see all 21):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2422427CNV Duplication17116639
    nsv904690CNV Loss21882294
    nsv904674CNV Loss21882294
    dgv2473n71CNV Loss21882294
    dgv2471n71CNV Loss21882294
    nsv515838CNV Loss19592680
    dgv2467n71CNV Loss21882294
    dgv2466n71CNV Loss21882294
    dgv2465n71CNV Loss21882294
    dgv2472n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): AXIN1
    Selected Site Specific Mutation Identification with PCR Assays for AXIN1 (see all 6):
    Cosmic IdAA Change
    143841p.W85*
    143838p.A76V
    143860p.G572R
    143826p.A76T
    143853p.T79I
    SeqTarget long-range PCR primers for resequencing AXIN1
    DNA2.0 Custom Variant and Variant Library Synthesis for AXIN1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603816   
    OMIM disorders: 114550  607864  
    UniProtKB/Swiss-Prot: AXIN1_HUMAN, O15169
  • Hepatocellular carcinoma (HCC) [MIM:114550]: A primary malignant neoplasm of epithelial liver cells. The
    major risk factors for HCC are chronic hepatitis B virus (HBV) infection, chronic hepatitis C virus (HCV)
    infection, prolonged dietary aflatoxin exposure, alcoholic cirrhosis, and cirrhosis due to other causes. Note=The
    gene represented in this entry is involved in disease pathogenesis
  • Caudal duplication anomaly (CADUA) [MIM:607864]: A condition characterized by the occurrence of
    duplications of different organs in the caudal region. Note=The disease is caused by mutations affecting the gene
    represented in this entry. Caudal duplication anomaly is associated with hypermethylation of the AXIN1 promoter

  • Selected diseases for AXIN1 (see all 51):    
    About MalaCards
    hepatoblastoma    caudal duplication    hepatocellular carcinoma, somatic    hepatocellular carcinoma
    cerebellar medulloblastoma    embryonal sarcoma    pulmonary sclerosing hemangioma    sclerosing hemangioma
    adenocarcinoma    medulloblastoma    hemangioma    familial adenomatous polyposis
    merkel cell carcinoma    adenoid cystic carcinoma    adenoiditis    basal cell carcinoma
    glioblastoma multiforme    wilms tumor    pituitary adenoma    oral squamous cell carcinoma

    2 diseases from the University of Copenhagen DISEASES database for AXIN1:
    Familial adenomatous polyposis     Colorectal cancer

    AXIN1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for AXIN1 gene (see all 15)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    caudal duplication anomaly 93 2 16773576 (2)
    familial adenomatous polyposis 67.8 3 14970870 (1), 15520370 (1), 15488029 (1)
    medulloblastoma 66.6 7 12555076 (3), 11585731 (1), 12209999 (1)
    colon cancer 48.2 4 9601641 (1), 11526492 (1), 17143297 (1), 11691783 (1)
    hepatocellular carcinoma 44.6 4 11526492 (1), 18592156 (1), 10700176 (1)
    colorectal cancer 36.7 5 14566817 (2), 17534895 (1), 10700176 (1)
    tumors 31.3 7 16867867 (2), 16773180 (1), 11719457 (1), 12439747 (1) (see all 6)
    brain tumors 31.2 2 19633924 (2)
    cancer 29.5 6 15735151 (1), 11170292 (1), 16465433 (1), 10700176 (1) (see all 5)
    cervical cancer 6.36 2 12883680 (2)

    Genetic Association Database (GAD): AXIN1
    Human Genome Epidemiology (HuGE) Navigator: AXIN1 (12 documents)

    Export disorders for AXIN1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for AXIN1 gene, integrated from 10 sources (see all 198):
    (articles sorted by number of sources associating them with AXIN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The mouse Fused locus encodes Axin, an inhibitor of the Wnt signaling pathway that regulates embryonic axis formation. (PubMed id 9230313)1, 2, 3 Zeng L.... Costantini F. (Cell 1997)
    2. AXIN1 mutations in hepatocellular carcinomas, and growth suppression in cancer cells by virus-mediated transfer of AXIN1. (PubMed id 10700176)1, 2, 9 Satoh S.... Nakamura Y. (Nat. Genet. 2000)
    3. Increased DNA methylation at the AXIN1 gene in a monozygotic twin from a pair discordant for a caudal duplication anomaly. (PubMed id 16773576)1, 2, 9 Oates N.A.... Chong S. (Am. J. Hum. Genet. 2006)
    4. Association of genetic variation in genes implicated in the beta-catenin destruction complex with risk of breast cancer. (PubMed id 18708403)1, 4, 9 Wang X....Couch F.J. (amp 2008)
    5. Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas. (PubMed id 15520370)1, 4, 9 Fearnhead N.S....Bodmer W.F. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    6. RNF146 is a poly(ADP-ribose)-directed E3 ligase that regulates axin degradation and Wnt signalling. (PubMed id 21478859)1, 2 Zhang Y.... Cong F. (Nat. Cell Biol. 2011)
    7. Ubiquitin ligase RNF146 regulates tankyrase and Axin to promote Wnt signaling. (PubMed id 21799911)1, 2 Callow M.G.... Costa M. (PLoS ONE 2011)
    8. The Ubiquitin specific protease USP34 regulates Axin stability and Wnt/beta-catenin signaling. (PubMed id 21383061)1, 2 Lui T.T.... Angers S. (Mol. Cell. Biol. 2011)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    10. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8312 HGNC: 903 AceView: AXIN1 Ensembl:ENSG00000103126 euGenes: HUgn8312
    ECgene: AXIN1 Kegg: 8312 H-InvDB: AXIN1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for AXIN1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for AXIN1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AXIN1 gene:
    Search GeneIP for patents involving AXIN1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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