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    CTNNAL1 catenin alpha like 1 [ Homo sapiens (human) ]

    Gene ID: 8727, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CTNNAL1provided by HGNC
    Official Full Name
    catenin alpha like 1provided by HGNC
    Primary source
    HGNC:HGNC:2512
    See related
    Ensembl:ENSG00000119326 MIM:604785; AllianceGenome:HGNC:2512
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ACRP; CLLP; alpha-CATU
    Summary
    Predicted to enable actin filament binding activity and cadherin binding activity. Acts upstream of or within Rho protein signal transduction. Located in cytosol. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in adrenal (RPKM 101.6), ovary (RPKM 57.7) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CTNNAL1 in Genome Data Viewer
    Location:
    9q31.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (108942577..109013499, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (121111650..121182574, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (111704857..111775779, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene actin like 7A Neighboring gene elongator acetyltransferase complex subunit 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28757 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20160 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:111713956-111715155 Neighboring gene actin binding transcription modulator Neighboring gene uncharacterized LOC105376216 Neighboring gene RNA, 5.8S ribosomal pseudogene 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:111774967-111775470 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:111798078-111799277 Neighboring gene transmembrane protein 245 Neighboring gene microRNA 32 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20162 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28758 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20163 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20164 Neighboring gene ferric chelate reductase 1 like

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. α-Catulin drives metastasis by activating ILK and driving an αvβ3 integrin signaling axis. Liang CH, et al. Cancer Res, 2013 Jan 1. PMID 23047866
    2. α-Catulin marks the invasion front of squamous cell carcinoma and is important for tumor cell metastasis. Cao C, et al. Mol Cancer Res, 2012 Jul. PMID 22648798, Free PMC Article
    3. Alpha-catulin, a Rho signalling component, can regulate NF-kappaB through binding to IKK-beta, and confers resistance to apoptosis. Wiesner C, et al. Oncogene, 2008 Apr 3. PMID 17952117
    4. Identification and chromosomal localization of CTNNAL1, a novel protein homologous to alpha-catenin. Zhang JS, et al. Genomics, 1998 Nov 15. PMID 9806841
    5. α-Catulin knockdown induces senescence in cancer cells. Fan LC, et al. Oncogene, 2011 Jun 9. PMID 21278790

    See all (59) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CTNNAL1 deficiency suppresses CFTR expression in HDM-induced asthma mouse model through ROCK1-CAL signaling pathway.
      Title: CTNNAL1 deficiency suppresses CFTR expression in HDM-induced asthma mouse model through ROCK1-CAL signaling pathway.
    2. alpha-Catulin promotes cancer stemness by antagonizing WWP1-mediated KLF5 degradation in lung cancer.
      Title: α-Catulin promotes cancer stemness by antagonizing WWP1-mediated KLF5 degradation in lung cancer.
    3. Genetic variants in RET, ARHGEF3 and CTNNAL1, and relevant interaction networks, contribute to the risk of Hirschsprung disease.
      Title: Genetic variants in RET, ARHGEF3 and CTNNAL1, and relevant interaction networks, contribute to the risk of Hirschsprung disease.
    4. CTNNAL1 may play a role in airway EMT by repressing the expression of Twist1 mRNA and reducing the level of TGF-beta1.
      Title: CTNNAL1 inhibits ozone-induced epithelial-mesenchymal transition in human bronchial epithelial cells.
    5. These data indicated that upregulated expression of alpha-catulin protein might have impact on the tumorigenesis of head and neck squamous cell carcinoma
      Title: The upregulated α-catulin expression was involved in head-neck squamous cell carcinogenesis by promoting proliferation, migration, invasion, and epithelial to mesenchymal transition.
    6. Alpha-catulin contributes to drug-resistance of melanoma by activating NF-kappaB and AP-1
      Title: Alpha-catulin contributes to drug-resistance of melanoma by activating NF-κB and AP-1.
    7. these results strongly indicate that alpha-catulin contributes to the invasive behavior of metastatic cells and may be used as a prognostic marker and future therapeutic target for patients with cancer.
      Title: α-Catulin marks the invasion front of squamous cell carcinoma and is important for tumor cell metastasis.
    8. our study shows that alpha-catulin plays a critical role in cancer metastasis
      Title: α-Catulin drives metastasis by activating ILK and driving an αvβ3 integrin signaling axis.
    9. findings show that alpha-catulin is highly expressed in melanoma cells; expression of alpha-catulin promoted melanoma progression and occurred concomitantly with the downregulation of E-cadherin and the upregulation of expression of mesenchymal genes
      Title: α-Catulin downregulates E-cadherin and promotes melanoma progression and invasion.
    10. a robust transcriptional CTNNAL1 up-regulation occurs during acute ozone-induced stress and is mediated at least in part by ozone-induced recruitments of LEF-1 and AP-2alpha to the human CTNNAL1 promoter
      Title: Identification of transcription factors regulating CTNNAL1 expression in human bronchial epithelial cells.
    Submit: New GeneRIF Correction See all GeneRIFs (21)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ08121

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin filament binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables cadherin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Rho protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within Rho protein signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    alpha-catulin
    Names
    alpha-catenin-related protein
    alpha2-catulin
    catenin (cadherin-associated protein), alpha-like 1
    catenin alpha-like protein 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001286974.2 → NP_001273903.1  alpha-catulin isoform b

      See identical proteins and their annotated locations for NP_001273903.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' terminal exon, which results in an alternate 3' coding region, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AF135021, AI148526, AK022926
      Consensus CDS
      CCDS69638.1
      UniProtKB/TrEMBL
      B3KMX6
      Related
      ENSP00000363723.4, ENST00000374595.8
      Conserved Domains (1) summary
      pfam01044
      Location:92 → 675
      Vinculin; Vinculin family

    2. NM_003798.4 → NP_003789.1  alpha-catulin isoform a

      See identical proteins and their annotated locations for NP_003789.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (a).
      Source sequence(s)
      AF030233, AK022926
      Consensus CDS
      CCDS6775.1
      UniProtKB/Swiss-Prot
      B5BU47, O76084, Q53FQ2, Q5JTQ7, Q5JTQ8, Q9UBT7, Q9Y401
      UniProtKB/TrEMBL
      B3KMX6
      Related
      ENSP00000320434.4, ENST00000325551.9
      Conserved Domains (1) summary
      pfam01044
      Location:92 → 675
      Vinculin; Vinculin family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      108942577..109013499 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017015250.3 → XP_016870739.1  alpha-catulin isoform X2

    2. XM_005252291.5 → XP_005252348.1  alpha-catulin isoform X1

      UniProtKB/TrEMBL
      B3KMX6
      Conserved Domains (1) summary
      pfam01044
      Location:92 → 675
      Vinculin; Vinculin family

    RNA

    1. XR_007061368.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      121111650..121182574 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054364092.1 → XP_054220067.1  alpha-catulin isoform X1

    2. XM_054364093.1 → XP_054220068.1  alpha-catulin isoform X2

    RNA

    1. XR_008488100.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UBT7.2 GenPept UniProtKB/Swiss-Prot:Q9UBT7

    Gene LinkOut

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