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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CTNNAL1 Gene

protein-coding   GIFtS: 53
GCID: GC09M111704

catenin (cadherin-associated protein), alpha-like 1

 Explore 9 diseases affiliated with
CTNNAL1 via our new
 Human Malady Compendium 
Biological research products
for CTNNAL1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Catenin (Cadherin-Associated Protein), Alpha-Like 11 2     Catenin Alpha-Like Protein 12 3
CLLP1 2     ACRP2 3
Alpha-CATU1     Alpha-Catulin1
Alpha-Catenin-Related Protein2 3     Alpha2-Catulin1

External Ids:    HGNC: 25121   Entrez Gene: 87272   Ensembl: ENSG000001193267   OMIM: 6047855   UniProtKB: Q9UBT73   

Export aliases for CTNNAL1 gene to outside databases

Previous GC identifers: GC09M102503 GC09M103437 GC09M105162 GC09M107084 GC09M108784 GC09M110744 GC09M081304


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: CTNL1_HUMAN, Q9UBT7
Function: May modulate the Rho pathway signaling by providing a scaffold for the Lbc Rho guanine nucleotide exchange
factor (ARHGEF1)

Gene Wiki entry for CTNNAL1


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_008470.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CTNNAL1 gene promoter:
         c-Fos   AP-1   SREBP-1c   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   HNF-3beta   POU3F2   SREBP-1b   C/EBPalpha   SREBP-1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CTNNAL1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CTNNAL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CTNNAL1


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

Entrez Gene cytogenetic band: 9q31.2   Ensembl cytogenetic band:  9q31.3   HGNC cytogenetic band: 9q31.2

CTNNAL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CTNNAL1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M111704:  view genomic region     (about GC identifiers)

Start:
111,704,851 bp from pter      End:
111,775,809 bp from pter
Size:
70,959 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CTNL1_HUMAN, Q9UBT7 (See protein sequence)
Recommended Name: Alpha-catulin  
Size: 734 amino acids; 81896 Da
Subunit: Interacts with ARHGEF1
Subcellular location: Cytoplasm, cytoskeleton. Cell membrane; Peripheral membrane protein
Secondary accessions: B5BU47 O76084 Q53FQ2 Q5JTQ7 Q5JTQ8 Q9Y401
Alternative splicing: 3 isoforms:  Q9UBT7-1   Q9UBT7-2   Q9UBT7-3   

Explore the universe of human proteins at neXtProt for CTNNAL1: NX_Q9UBT7

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UBT7

  • CTNNAL1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_003789.1  
    ENSEMBL proteins: 
     ENSP00000320434   ENSP00000363723   ENSP00000363722   ENSP00000363721   ENSP00000323351  

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    Novus Biologicals CTNNAL1 Proteins
    Novus Biologicals CTNNAL1 Lysates
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol IDA12270917
    GO:0005886plasma membrane IEA--
    GO:0015629actin cytoskeleton IEA--


    CTNNAL1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    CTNNAL1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR006077 Vinculin/catenin
     IPR001033 Alpha_catenin

    Graphical View of Domain Structure for InterPro Entry Q9UBT7

    ProtoNet protein and cluster: Q9UBT7

    UniProtKB/Swiss-Prot: CTNL1_HUMAN, Q9UBT7
    Similarity: Belongs to the vinculin/alpha-catenin family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: CTNL1_HUMAN, Q9UBT7
    Function: May modulate the Rho pathway signaling by providing a scaffold for the Lbc Rho guanine nucleotide exchange
    factor (ARHGEF1)
    Induction: Down-regulated in cancer pancreatic cells undergoing differentiation and apoptosis

         Genatlas biochemistry entry for CTNNAL1:
    catenin alpha-catulin-like 1,cadherin-associated protein,widely expressed,including pancreas,heart and skeletal
    muscle,neural tissues,homolog to alpha-catenin and vinculin

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidCTNNAL1 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity IEA--
    GO:0045296cadherin binding IEA--


    CTNNAL1 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for CTNNAL1:
     Increased cilium length after   Synthetic lethal with Ras 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CTNNAL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/10 Interacting proteins for CTNNAL1 (Q9UBT73 ENSP000003204344) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AKAP13Q128023, ENSP000003547184I2D: score=3 STRING: ENSP00000354718
    NEK1Q96PY63, ENSP000004080204I2D: score=4 STRING: ENSP00000408020
    ARHGEF1Q928883I2D: score=1 
    IKBKBO149203I2D: score=1 
    MTERFQ995513I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion IEA--
    GO:0007266Rho protein signal transduction IDA12270917


    CTNNAL1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CTNNAL1

    3 HMDB Compounds for CTNNAL1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    Search CenterWatch for drugs/clinical trials and news about CTNNAL1 / CTNL1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CTNNAL1 gene: 
    NM_003798.2  

    Unigene Cluster for CTNNAL1:

    Catenin (cadherin-associated protein), alpha-like 1
    Hs.58488  [show with all ESTs]
    Unigene Representative Sequence: AK123916
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000325551(uc010mts.1 uc004bdo.1) ENST00000374595(uc004bdp.1)
    ENST00000374594 ENST00000488130 ENST00000374593 ENST00000325580

    miRNA
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    hsa-miR-525-5p hsa-miR-520a-5p
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    Inhib. RNA
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    Additional cDNA sequence: 

    AB451283.1 AB451415.1 AF006070.1 AF030233.1 AF080071.1 AF135021.1 AK022539.1 AK022834.1 
    AK022926.1 AK123916.1 AK223230.1 AK314677.1 AL050016.1 BC117208.1 BC117234.1 U97067.1 

    16 DOTS entries:

    DT.116383  DT.99974493  DT.100817688  DT.92442361  DT.95091315  DT.95091325  DT.101967833  DT.208736 
    DT.448130  DT.101963734  DT.121189538  DT.208735  DT.95091319  DT.95124454  DT.121189463  DT.40250280 

    24/260 AceView cDNA sequences (see all 260):

    BX952533 BM989793 BM460754 AL545347 BU664923 BU677451 BU629951 AU128516 
    N75389 BM661712 BF793401 N50351 BX445976 CA393033 AU106628 AA861220 
    AI480333 AA559031 BM714150 BM675046 BP341472 BI333569 AA677757 BM665300 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for CTNNAL1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b
    SP1:                                                                                                  -                       -         
    SP2:                                                                                                  -                                 
    SP3:                                                                                                                                    


    ECgene alternative splicing isoforms for CTNNAL1

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CTNNAL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAACTGATTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See CTNNAL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CTNNAL1

    SOURCE GeneReport for Unigene cluster: Hs.58488

    UniProtKB/Swiss-Prot: CTNL1_HUMAN, Q9UBT7
    Tissue specificity: Widely expressed. Expressed at lower level in neural tissues and at the highest level in the
    adrenal gland

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    In Situ
    Assay Products:
     

     
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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

    This gene was present in the common ancestor of animals.

    Orthologs for CTNNAL1 gene from 6/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves CTNNAL11 catenin (cadherin-associated protein), alpha-like 1 75.74(n)
    76.86(a)
      100858912  XM_003640772.1  XP_003640820.1 
    lizard
    (Anolis carolinensis)
    Reptilia CTNNAL16
    --
    67(a)
    1 ↔ 1
    4(67536822-67566955)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.115192 Xenopus laevis transcribed sequence with moderate similarity more 77.48(n)    BM262504.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ctnnal11 catenin (cadherin-associated protein), alpha-like 1 63.01(n)
    63.48(a)
      100034581  NM_001144054.1  NP_001137526.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta alpha-catenin-related1 , 3 actin binding3
    alpha-catenin related1
    28(a)3
    43.81(n)1
    32.06(a)1
      60A143
    497131  NM_143816.21  NP_652073.21 
    worm
    (Caenorhabditis elegans)
    Secernentea ctn-11 , 3 Protein CTN-11 38(a)3
    51.11(n)1
    42.15(a)1
      I(2606835-2617276)3
    1718181  NM_058607.31  NP_491008.21 


    ENSEMBL Gene Tree for CTNNAL1 (if available)
    TreeFam Gene Tree for CTNNAL1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CTNNAL1 gene
    CTNNA12  CTNNA22  CTNNA32  VCL2  

    CTNNAL1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1165 NCBI SNPs in CTNNAL1 are shown (see all 1165    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1828538951,2
    --111704421(+) CATACC/TCTCCA 1 -- ds50010--------
    rs1463904241,2
    --111704692(+) ATCTAA/GATGAT 1 -- ds50010--------
    rs1883251711,2
    --111704779(+) TGAGAC/TAGTTG 1 -- ds50010--------
    rs1443768851,2
    --111704785(+) AGTTGA/GGATAT 1 -- ds50010--------
    rs1465977401,2
    --111704813(+) GAACAA/TTAGTG 1 -- ds50010--------
    rs283611841,2
    C--111704909(-) GATCAT/CGAAAC 1 -- ut313Minor allele frequency- C:0.01NS NA 178
    rs283611831,2
    C,F,--111704974(-) TTTATC/GTTTTC 1 -- ut312Minor allele frequency- G:0.02NS WA 174
    rs2019712021,2
    --111705030(+) CAGAGA/CTCTGA 1 -- ut310--------
    rs2015190441,2
    --111705061(+) TTACTA/CTCCAT 2 E D mis10--------
    rs1854207521,2
    C,--111705070(+) ATAGTA/GTCCTT 2 D syn10--------

    HapMap Linkage Disequilibrium report for CTNNAL1 (111704851 - 111775809 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CTNNAL1: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CTNNAL1
    DNA2.0 Custom Variant and Variant Library Synthesis for CTNNAL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    CTNNAL1 for disorders           About GeneDecksing

    OMIM gene information: 604785    OMIM disorders: --

    9 diseases for CTNNAL1:    About MalaCards
    riley-day syndrome    dysautonomia    hellp syndrome    dilated cardiomyopathy
    mucoepidermoid carcinoma    cardiomyopathy    osteosarcoma    carcinoma
    pancreatitis

    Human Genome Epidemiology (HuGE) Navigator: CTNNAL1 (1 document)

    Export disorders for CTNNAL1 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)
    About This Section

    PubMed articles for CTNNAL1 gene, integrated from 9 sources (see all 28):
    (articles sorted by number of sources associating them with CTNNAL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and chromosomal localization of CTNNAL1, a novel protein homologous to alpha-catenin. (PubMed id 9806841)1, 2, 3, 9 Zhang J.-S.... Smith D.I. (1998)
    2. Association of Lbc Rho guanine nucleotide exchange factor with alpha- catenin-related protein, alpha-catulin/CTNNAL1, supports serum response factor activation. (PubMed id 12270917)1, 2, 9 Park B.... Toksoz D. (2002)
    3. Human alpha-catulin, a novel alpha-catenin-like molecule with conserved genomic structure, but deviating alternative splicing. (PubMed id 10542337)1, 2, 9 Janssens B.... van Roy F.M. (1999)
    4. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Wound repair and proliferation of bronchial epithelial cells regulated by CTNNAL1. (PubMed id 17647259)1, 9 Xiang Y....Liu H.J. (2008)
    7. Distinct activities of the alpha-catenin family, alpha-catulin and alpha-catenin, on beta-catenin-mediated signaling. (PubMed id 14993280)1, 9 Merdek K.D....Toksoz D. (2004)
    8. Alpha-catulin, a Rho signalling component, can regulate NF-kappaB through binding to IKK-beta, and confers resistance to apoptosis. (PubMed id 17952117)1, 9 Wiesner C....de Martin R. (2008)
    9. Alpha-catulin maps to the familial dysautonomia region on 9q31. (PubMed id 11768226)1, 9 Demacio P.C. and Ray P.N. (2001)
    10. Identification of proteins that interact with the central coiled-coil region of the human protein kinase NEK1. (PubMed id 14690447)1, 9 Surpili M.J....Kobarg J. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8727 HGNC: 2512 AceView: CTNNAL1 Ensembl:ENSG00000119326 euGenes: HUgn8727
    ECgene: CTNNAL1 H-InvDB: CTNNAL1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CTNNAL1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CTNNAL1 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/ctnnal1/

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    Patent Information for CTNNAL1 gene:
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