TWF1 (twinfilin actin binding protein 1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 5756 |
| Gene name | Twinfilin actin binding protein 1 |
| Gene symbol | TWF1 |
| Synonyms (NCBI Gene) |
A6PTK9
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| Chromosome | 12 |
| Chromosome location | 12q12 |
| Summary | This gene encodes twinfilin, an actin monomer-binding protein conserved from yeast to mammals. Studies of the mouse counterpart suggest that this protein may be an actin monomer-binding protein, and its localization to cortical G-actin-rich structures may |
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miRNA
miRNA information provided by mirtarbase database.
752
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
42
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q12792 | |||||||||||||||
| Protein name | Twinfilin-1 (Protein A6) (Protein tyrosine kinase 9) | |||||||||||||||
| Protein function | Actin-binding protein involved in motile and morphological processes. Inhibits actin polymerization, likely by sequestering G-actin. By capping the barbed ends of filaments, it also regulates motility. Seems to play an important role in clathrin | |||||||||||||||
| PDB | 7CCC | |||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Expressed at high levels in the colon, testis, ovary, prostate and lung. Expressed at lower levels in the brain, bladder and heart. Not detected in liver. {ECO:0000269|PubMed:7507208}. | |||||||||||||||
| Sequence |
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| Sequence length | 350 | |||||||||||||||
| Interactions | View interactions | |||||||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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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)
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