CTNNAL1 (catenin alpha like 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 8727
Gene name Catenin alpha like 1
Gene symbol CTNNAL1
Synonyms (NCBI Gene)
ACRPCLLPalpha-CATU
Chromosome 9
Chromosome location 9q31.3
miRNA miRNA information provided by mirtarbase database.
3
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (3)
miRTarBase ID miRNA Experiments Reference
MIRT044401 hsa-miR-320a CLASH 23622248
MIRT440862 hsa-miR-218-5p HITS-CLIP 23212916
MIRT440862 hsa-miR-218-5p HITS-CLIP 23212916
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (12)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21115837, 25416956, 32296183, 33961781
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA 12270917
GO:0005856 Component Cytoskeleton IEA
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
604785 2512 ENSG00000119326
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UBT7
Protein name Alpha-catulin (Alpha-catenin-related protein) (ACRP) (Catenin alpha-like protein 1)
Protein function May modulate the Rho pathway signaling by providing a scaffold for the Lbc Rho guanine nucleotide exchange factor (ARHGEF1).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01044 Vinculin 31 → 310 Vinculin family Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Expressed at lower level in neural tissues and at the highest level in the adrenal gland. {ECO:0000269|PubMed:10542337, ECO:0000269|PubMed:12270917, ECO:0000269|PubMed:9806841}.
Sequence 
MAASPGPAGVGGAGAVYGSGSSGFALDSGLEIKTRSVEQTLLPLVSQITTLINHKDNTKK
SDKTLQAIQRVGQAVNLAVGRFVKVGEAIANENWDLKEEINIACIEAKQAGETIAALTDI
TNLNHLESDGQITIFTDKTGVIKAARLLLSSVTKVLLLADRVVIKQIITSRNKVLATMER
LEKVNSFQEFVQIFSQFGNEMVEFAHLSGDRQNDLKDEKKKAKMAAARAVLEKCTMMLLT
ASKTCLRHPNCESAHKNKEGVFDRMKVALDKVIEIVTDCKPNGETDISSISIFTGIKEFK
MNIEALRENLYFQSKENLSVTLEVILERMEDFTDSAYTSHEHRERILELSTQARMELQQL
ISVWIQAQSKKTKSIAEELELSILKISHSLNELKKELHSTATQLAADLLKYHADHVVLKA
LKLTGVEGNLEALAEYACKLSEQKEQLVETCRLLRHISGTEPLEITCIHAEETFQVTGQQ
IISAAETLTLHPSSKIAKENLDVFCEAWESQISDMSTLLREINDVFEGRRGEKYGYLSLP
KPMKNNANLKSLKPDKPDSEEQAKIAKLGLKLGLLTSDADCEIEKWEDQENEIVQYGRNM
SSMAYSLYLFTRGEGPLKTSQDLIHQLEVFAAEGLKLTSSVQAFSKQLKDDDKLMLLLEI
NKLIPLCHQLQTVTKTSLQNKVFLKVDKCITKTRSMMALLVQLLSLCYKLLKKLQMENNG
WVSVTNKDTMDSKT
Sequence length 734
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (3)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Thymoma Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (23)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Asthma Asthma BEFREE 17647259
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 26311049 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 31698710
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 24966994 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Dysautonomia, Familial Dysautonomia BEFREE 11768226
★★★★★
★☆☆☆☆
Found in Text Mining only
Dysautonomia, Familial Dysautonomia LHGDN 11768226
★★★★★
★☆☆☆☆
Found in Text Mining only
Head and Neck Neoplasms Head and neck neoplasm Pubtator 26311049 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Hirschsprung Disease Hirschsprung disease Pubtator 32139661 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 26683690, 35154481 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Lymphatic Metastasis Lymphatic metastasis Pubtator 31348270 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only