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Details on Person UniProt:B1AK53-2 ESPN
| Class:Id | ReferenceIsoform:355051 |
|---|---|
| _chainChangeLog | chain:1-854 added on Fri February 6 2015 |
| _displayName | UniProt:B1AK53-2 ESPN |
| _timestamp | 2024-11-03 20:09:52 |
| chain | chain:1-854 |
| checksum | 34B771071F733B62 |
| comment | FUNCTION Multifunctional actin-bundling protein. Plays a major role in regulating the organization, dimension, dynamics and signaling capacities of the actin filament-rich microvilli in the mechanosensory and chemosensory cells (PubMed:29572253). Required for the assembly and stabilization of the stereociliary parallel actin bundles. Plays a crucial role in the formation and maintenance of inner ear hair cell stereocilia (By similarity). Involved in the elongation of actin in stereocilia (PubMed:29572253). In extrastriolar hair cells, required for targeting MYO3B to stereocilia tips, and for regulation of stereocilia diameter and staircase formation.SUBUNIT Monomer. Binds F-actin in a Ca(2+)-resistant fashion. Interacts (via N-terminus) with BAIAP2 (via SH3-domain). Interacts with PFN2. Interacts with MYO3A (via C-terminus). Interacts with MYO3B (via C-terminus).SUBCELLULAR LOCATION The WH2-domain binds actin monomer and mediates actin bundle assembly.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease may be caused by variants affecting the gene represented in this entry. |
| created | [InstanceEdit:354386] Schmidt, EE, 2008-06-18 04:45:12 |
| description | recommendedName: Espin alternativeName: Autosomal recessive deafness type 36 protein alternativeName: Ectoplasmic specialization protein |
| geneName | ESPN DFNB36 LP2654 |
| identifier | B1AK53 |
| isoformParent | |
| isSequenceChanged | FALSE |
| keyword | Actin-binding Alternative splicing ANK repeat Cell projection Coiled coil Cytoplasm Cytoskeleton Deafness Disease variant Hearing Non-syndromic deafness Phosphoprotein Proteomics identification Reference proteome Repeat Retinitis pigmentosa Usher syndrome |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | ESPN |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:9000033] ENSEMBL:ENSG00000187017 ESPN [Homo sapiens] |
| secondaryIdentifier | ESPN_HUMAN Q6XYB2 Q9H0A2 Q9Y329 |
| sequenceLength | 854 |
| species | [Species:48887] Homo sapiens |
| variantIdentifier | B1AK53-2 |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:B1AK53-2 ESPN (355051)
