PLS1 (plastin 1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 5357 |
| Gene name | Plastin 1 |
| Gene symbol | PLS1 |
| Synonyms (NCBI Gene) |
DFNA76
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| Chromosome | 3 |
| Chromosome location | 3q23 |
| Summary | Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. The protein encoded by this ge |
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SNPs
SNP information provided by dbSNP.
4
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miRNA
miRNA information provided by mirtarbase database.
240
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
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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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Q14651 | |||||||||||||||||||||||||||||||||||
| Protein name | Plastin-1 (Intestine-specific plastin) (I-plastin) | |||||||||||||||||||||||||||||||||||
| Protein function | Actin-bundling protein. In the inner ear, it is required for stereocilia formation. Mediates liquid packing of actin filaments that is necessary for stereocilia to grow to their proper dimensions. | |||||||||||||||||||||||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: In small intestine, colon, and kidney; relatively lower levels of expression are detected in the lung and stomach. {ECO:0000269|PubMed:8139549}. | |||||||||||||||||||||||||||||||||||
| Sequence | ||||||||||||||||||||||||||||||||||||
| Sequence length | 629 | |||||||||||||||||||||||||||||||||||
| Interactions | View interactions | |||||||||||||||||||||||||||||||||||
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Associated diseases
Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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