Aliases for CTNNAL1 Gene

Aliases for CTNNAL1 Gene

  • Catenin Alpha Like 1 2 3 5
  • Alpha-Catulin 2 3 4
  • Catenin (Cadherin-Associated Protein), Alpha-Like 1 2 3
  • Alpha-Catenin-Related Protein 3 4
  • Catenin Alpha-Like Protein 1 3 4
  • Alpha2-Catulin 2 3
  • Alpha-CATU 2 3
  • ACRP 3 4
  • CLLP 2 3
  • Catenin Alpha-Like 1 2
  • CTNNAL1 5

External Ids for CTNNAL1 Gene

Previous GeneCards Identifiers for CTNNAL1 Gene

  • GC09M102503
  • GC09M103437
  • GC09M105162
  • GC09M107084
  • GC09M108784
  • GC09M110744
  • GC09M111704
  • GC09M081304

Summaries for CTNNAL1 Gene

GeneCards Summary for CTNNAL1 Gene

CTNNAL1 (Catenin Alpha Like 1) is a Protein Coding gene. Diseases associated with CTNNAL1 include Perrault Syndrome and Hirschsprung Disease 1. Among its related pathways are Toll-like Receptor Signaling Pathway. Gene Ontology (GO) annotations related to this gene include structural molecule activity and cadherin binding. An important paralog of this gene is CTNNA2.

UniProtKB/Swiss-Prot Summary for CTNNAL1 Gene

  • May modulate the Rho pathway signaling by providing a scaffold for the Lbc Rho guanine nucleotide exchange factor (ARHGEF1).

Gene Wiki entry for CTNNAL1 Gene

Additional gene information for CTNNAL1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CTNNAL1 Gene

Genomics for CTNNAL1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CTNNAL1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CTNNAL1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CTNNAL1

Top Transcription factor binding sites by QIAGEN in the CTNNAL1 gene promoter:
  • AP-1
  • c-Fos
  • C/EBPalpha
  • HNF-3beta
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for CTNNAL1 Gene

Genomic Locations for CTNNAL1 Gene
chr9:108,942,569-109,013,535
(GRCh38/hg38)
Size:
70,967 bases
Orientation:
Minus strand
chr9:111,704,851-111,775,809
(GRCh37/hg19)
Size:
70,959 bases
Orientation:
Minus strand

Genomic View for CTNNAL1 Gene

Genes around CTNNAL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CTNNAL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CTNNAL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CTNNAL1 Gene

Proteins for CTNNAL1 Gene

  • Protein details for CTNNAL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBT7-CTNL1_HUMAN
    Recommended name:
    Alpha-catulin
    Protein Accession:
    Q9UBT7
    Secondary Accessions:
    • B5BU47
    • O76084
    • Q53FQ2
    • Q5JTQ7
    • Q5JTQ8
    • Q9Y401

    Protein attributes for CTNNAL1 Gene

    Size:
    734 amino acids
    Molecular mass:
    81896 Da
    Quaternary structure:
    • Interacts with ARHGEF1.

    Alternative splice isoforms for CTNNAL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CTNNAL1 Gene

Post-translational modifications for CTNNAL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CTNNAL1 Gene

Antibody Products

  • Abcam antibodies for CTNNAL1
  • Boster Bio Antibodies for CTNNAL1
  • Santa Cruz Biotechnology (SCBT) Antibodies for CTNNAL1

No data available for DME Specific Peptides for CTNNAL1 Gene

Domains & Families for CTNNAL1 Gene

Gene Families for CTNNAL1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CTNNAL1 Gene

Suggested Antigen Peptide Sequences for CTNNAL1 Gene

GenScript: Design optimal peptide antigens:
  • Catenin alpha-like protein 1 (CTNL1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UBT7

UniProtKB/Swiss-Prot:

CTNL1_HUMAN :
  • Belongs to the vinculin/alpha-catenin family.
Family:
  • Belongs to the vinculin/alpha-catenin family.
genes like me logo Genes that share domains with CTNNAL1: view

Function for CTNNAL1 Gene

Molecular function for CTNNAL1 Gene

UniProtKB/Swiss-Prot Function:
May modulate the Rho pathway signaling by providing a scaffold for the Lbc Rho guanine nucleotide exchange factor (ARHGEF1).
UniProtKB/Swiss-Prot Induction:
Down-regulated in cancer pancreatic cells undergoing differentiation and apoptosis.
GENATLAS Biochemistry:
catenin alpha-catulin-like 1,cadherin-associated protein,widely expressed,including pancreas,heart and skeletal muscle,neural tissues,homolog to alpha-catenin and vinculin

Phenotypes From GWAS Catalog for CTNNAL1 Gene

Gene Ontology (GO) - Molecular Function for CTNNAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21115837
GO:0045296 cadherin binding IEA --
GO:0051015 actin filament binding IEA --
genes like me logo Genes that share ontologies with CTNNAL1: view
genes like me logo Genes that share phenotypes with CTNNAL1: view

Animal Model Products

CRISPR Products

miRNA for CTNNAL1 Gene

miRTarBase miRNAs that target CTNNAL1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTNNAL1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CTNNAL1 Gene

Localization for CTNNAL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTNNAL1 Gene

Cytoplasm, cytoskeleton. Cell membrane. Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CTNNAL1 gene
Compartment Confidence
cytosol 5
plasma membrane 4
cytoskeleton 4
nucleus 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for CTNNAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA 12270917
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CTNNAL1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CTNNAL1 Gene

Pathways & Interactions for CTNNAL1 Gene

PathCards logo

SuperPathways for CTNNAL1 Gene

genes like me logo Genes that share pathways with CTNNAL1: view

Pathways by source for CTNNAL1 Gene

1 BioSystems pathway for CTNNAL1 Gene

Gene Ontology (GO) - Biological Process for CTNNAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0007266 Rho protein signal transduction IEA,IDA 12270917
genes like me logo Genes that share ontologies with CTNNAL1: view

No data available for SIGNOR curated interactions for CTNNAL1 Gene

Drugs & Compounds for CTNNAL1 Gene

(3) Drugs for CTNNAL1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with CTNNAL1: view

Transcripts for CTNNAL1 Gene

mRNA/cDNA for CTNNAL1 Gene

2 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTNNAL1

Alternative Splicing Database (ASD) splice patterns (SP) for CTNNAL1 Gene

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:

Relevant External Links for CTNNAL1 Gene

GeneLoc Exon Structure for
CTNNAL1

Expression for CTNNAL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CTNNAL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CTNNAL1 Gene

This gene is overexpressed in Adrenal Gland (x9.3).

Protein differential expression in normal tissues from HIPED for CTNNAL1 Gene

This gene is overexpressed in Bone (29.8) and Cerebrospinal fluid (25.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CTNNAL1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CTNNAL1

SOURCE GeneReport for Unigene cluster for CTNNAL1 Gene:

Hs.58488

mRNA Expression by UniProt/SwissProt for CTNNAL1 Gene:

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

Evidence on tissue expression from TISSUES for CTNNAL1 Gene

  • Nervous system(4.6)
  • Stomach(4.2)
  • Heart(2.8)
  • Muscle(2.5)
  • Lung(2.4)
  • Adrenal gland(2.4)
  • Kidney(2.2)
  • Liver(2.1)
  • Spleen(2.1)
  • Bone marrow(2.1)
  • Skin(2)
genes like me logo Genes that share expression patterns with CTNNAL1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CTNNAL1 Gene

Orthologs for CTNNAL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CTNNAL1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CTNNAL1 30 31
  • 99.23 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CTNNAL1 30 31
  • 92.56 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CTNNAL1 30 31
  • 92.26 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ctnnal1 30 17 31
  • 85.08 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ctnnal1 30
  • 85.01 (n)
Oppossum
(Monodelphis domestica)
Mammalia CTNNAL1 31
  • 78 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CTNNAL1 31
  • 66 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CTNNAL1 30 31
  • 76.1 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CTNNAL1 31
  • 68 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ctnnal1 30
  • 70.62 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.11519 30
Zebrafish
(Danio rerio)
Actinopterygii ctnnal1 30 31
  • 62.93 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011097 30
  • 48.81 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta alpha-catenin-related 30 31 32
  • 44.15 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea ctn-1 30 31 32
  • 50.82 (n)
OneToOne
Species where no ortholog for CTNNAL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CTNNAL1 Gene

ENSEMBL:
Gene Tree for CTNNAL1 (if available)
TreeFam:
Gene Tree for CTNNAL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CTNNAL1: view image

Paralogs for CTNNAL1 Gene

Paralogs for CTNNAL1 Gene

genes like me logo Genes that share paralogs with CTNNAL1: view

Variants for CTNNAL1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CTNNAL1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
731107 Likely Benign: not provided 108,999,189(-) C/T MISSENSE_VARIANT
776438 Benign: not provided 108,972,751(-) G/C MISSENSE_VARIANT
780822 Benign: not provided 108,972,840(-) ATG/A INTRON_VARIANT
rs16913734 - p.Thr424Ser
rs28361109 - p.Asn91Thr

Additional dbSNP identifiers (rs#s) for CTNNAL1 Gene

Structural Variations from Database of Genomic Variants (DGV) for CTNNAL1 Gene

Variant ID Type Subtype PubMed ID
esv2676852 CNV deletion 23128226
esv3621426 CNV loss 21293372
nsv1141020 CNV deletion 24896259
nsv475684 CNV novel sequence insertion 20440878
nsv6660 CNV deletion 18451855

Variation tolerance for CTNNAL1 Gene

Residual Variation Intolerance Score: 63.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.59; 89.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CTNNAL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CTNNAL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CTNNAL1 Gene

Disorders for CTNNAL1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CTNNAL1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
perrault syndrome
  • gonadal dysgenesis, xx type
hirschsprung disease 1
  • hirschsprung disease, susceptibility to, 1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CTNNAL1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CTNNAL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CTNNAL1 Gene

Publications for CTNNAL1 Gene

  1. Identification and chromosomal localization of CTNNAL1, a novel protein homologous to alpha-catenin. (PMID: 9806841) Zhang JS … Smith DI (Genomics 1998) 2 3 4 23
  2. Association of Lbc Rho guanine nucleotide exchange factor with alpha-catenin-related protein, alpha-catulin/CTNNAL1, supports serum response factor activation. (PMID: 12270917) Park B … Toksoz D (The Journal of biological chemistry 2002) 3 4 23
  3. Human alpha-catulin, a novel alpha-catenin-like molecule with conserved genomic structure, but deviating alternative splicing. (PMID: 10542337) Janssens B … van Roy F (Biochimica et biophysica acta 1999) 3 4 23
  4. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PMID: 20677014) Shimada M … Tokunaga K (Human genetics 2010) 3 41
  5. Alpha-catulin, a Rho signalling component, can regulate NF-kappaB through binding to IKK-beta, and confers resistance to apoptosis. (PMID: 17952117) Wiesner C … de Martin R (Oncogene 2008) 3 23

Products for CTNNAL1 Gene

  • Signalway Proteins for CTNNAL1

Sources for CTNNAL1 Gene