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

Gene ID: 8727, updated on 3-Apr-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, Apr 2022]
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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Location:
9q31.3
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (108942577..109013499, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (121111650..121182574, complement)
105.20220307 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
  • 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. CTNNAL1 inhibits ozone-induced epithelial-mesenchymal transition in human bronchial epithelial cells. Tan M, et al. Exp Physiol, 2018 Aug. PMID 29791759
  2. The upregulated α-catulin expression was involved in head-neck squamous cell carcinogenesis by promoting proliferation, migration, invasion, and epithelial to mesenchymal transition. Zhang Z, et al. Tumour Biol, 2016 Feb. PMID 26311049
  3. Alpha-catulin contributes to drug-resistance of melanoma by activating NF-κB and AP-1. Kreiseder B, et al. PLoS One, 2015. PMID 25793618, Free PMC Article
  4. 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
  5. 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

See all (54) 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_2023_10

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

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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