Gene Gene information from NCBI Gene database.
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
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
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.
MIM HGNC e!Ensembl
604785 2512 ENSG00000119326
Protein Protein information from UniProt database.
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
MNIEALRENL
YFQSKENLSVTLEVILERMEDFTDSAYTSHEHRERILELSTQARMELQQL
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
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)
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
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Adenocarcinoma Associate 26683690
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of Lung Associate 35154481
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 26311049
★☆☆☆☆
Found in Text Mining only
Carcinoma Non Small Cell Lung Associate 35154481
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 24966994
★☆☆☆☆
Found in Text Mining only
Head and Neck Neoplasms Associate 26311049
★☆☆☆☆
Found in Text Mining only
Hirschsprung Disease Associate 32139661
★☆☆☆☆
Found in Text Mining only
Inflammation Associate 25793618
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Associate 26683690, 35154481
★☆☆☆☆
Found in Text Mining only
Lymphatic Metastasis Associate 31348270
★☆☆☆☆
Found in Text Mining only