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Details on Person UniProt:Q9ET47 Espn
| Class:Id | ReferenceGeneProduct:355052 |
|---|---|
| _chainChangeLog | chain:1-871 added on Sat February 7 2015 |
| _displayName | UniProt:Q9ET47 Espn |
| _timestamp | 2024-08-09 18:42:35 |
| chain | chain:1-871 |
| checksum | C7707D5C73678DA1 |
| 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:14657236, PubMed:15190118). 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 (PubMed:21455486). Involved in the elongation of actin in stereocilia (PubMed:19287378, PubMed:22264607). In extrastriolar hair cells, required for targeting MYO3B to stereocilia tips, and for regulation of stereocilia diameter and staircase formation (PubMed:26926603).SUBUNIT Monomer (Probable). Binds F-actin in a Ca(2+)-resistant fashion (PubMed:10588661). Interacts (via N-terminus) with BAIAP2 (via SH3-domain) (PubMed:12598619). Interacts with PFN2 (PubMed:15190118). Interacts with MYO3A (via C-terminus) (PubMed:26926603). Interacts with MYO3B (via C-terminus) (PubMed:26785147, PubMed:26926603).SUBCELLULAR LOCATION Isoform 8 localizes to parallel actin bundles of ectoplasmic specializations between neighboring Sertoli cells and at sites where Sertoli cells contact the heads of elongate spermatids.ALTERNATIVE PRODUCTS Expressed at high concentration in the microvillar parallel actin bundle (PAB) of hair cells stereocilia in the cochlea and vestibular system. Detected also at high levels of a number of other sensory cell types, including taste receptor cells, solitary chemoreceptor cells, vomeronasal sensory neurons and Merkel cells. Isoforms 2, 3, 4 and 5 are expressed in Purkinje cells dendritic spines. Expressed in utricle hair bundles (at protein level) (PubMed:26926603).DOMAIN The WH2-domain binds actin monomer and mediates actin bundle assembly.MISCELLANEOUS Jerker mice have a frameshift mutation that affect the espin C-terminus. This mutation cause deafness, vestibular dysfunction and hair cell degeneration. |
| created | [InstanceEdit:354386] Schmidt, EE, 2008-06-18 04:45:12 |
| description | recommendedName: Espin alternativeName: Ectoplasmic specialization protein |
| geneName | Espn |
| identifier | Q9ET47 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Actin-binding Alternative splicing ANK repeat Cell junction Cell projection Coiled coil Cytoplasm Cytoskeleton Hearing Phosphoprotein Reference proteome Repeat Synapse |
| modified | [InstanceEdit:384350] Kanapin, AA, 2008-11-26 14:00:39 [InstanceEdit:392885] Kanapin, AA, 2009-03-09 12:07:18 [InstanceEdit:400710] Schmidt, EE, 2009-03-25 05:33:35 [InstanceEdit:423310] Kanapin, AA [InstanceEdit:435478] Kanapin, AA [InstanceEdit:435871] Kanapin, AA [InstanceEdit:447347] Kanapin, AA [InstanceEdit:525883] Kanapin, AA [InstanceEdit:613449] Kanapin, AA [InstanceEdit:797602] Kanapin, AA [InstanceEdit:937368] Yung, CK [InstanceEdit:1042053] Yung, CK [InstanceEdit:1220657] Yung, CK [InstanceEdit:1300696] Yung, CK [InstanceEdit:1301627] Yung, CK [InstanceEdit:1551960] Weiser, JD [InstanceEdit:1995863] Weiser, JD [InstanceEdit:2132304] Weiser, JD [InstanceEdit:2265580] Weiser, JD [InstanceEdit:5433710] Weiser, JD [InstanceEdit:5618415] Weiser, JD [InstanceEdit:5634237] Weiser, JD [InstanceEdit:5673015] Weiser, JD [InstanceEdit:6807888] Weiser, JD [InstanceEdit:8869714] Weiser, JD [InstanceEdit:9037114] Weiser, JD [InstanceEdit:9637257] Weiser, JD [InstanceEdit:9666080] Weiser, JD [InstanceEdit:9676415] Weiser, JD [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 |
| name | Espn |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| secondaryIdentifier | ESPN_MOUSE A2AK06 A2AK09 A2AK13 B1AWP3 B1AWP6 B1AWQ2 Q6GYS0 Q6GYS1 Q80ZC0 Q80ZC1 Q80ZC2 Q80ZC3 Q9QY27 |
| sequenceLength | 871 |
| species | [Species:48892] Mus musculus |
| (isoformParent) | [ReferenceIsoform:355053] UniProt:Q9ET47-2 Espn [Mus musculus] [ReferenceIsoform:355054] UniProt:Q9ET47-3 Espn [Mus musculus] [ReferenceIsoform:355055] UniProt:Q9ET47-4 Espn [Mus musculus] [ReferenceIsoform:355056] UniProt:Q9ET47-5 Espn [Mus musculus] [ReferenceIsoform:355057] UniProt:Q9ET47-6 Espn [Mus musculus] [ReferenceIsoform:355058] UniProt:Q9ET47-7 Espn [Mus musculus] [ReferenceIsoform:355059] UniProt:Q9ET47-8 Espn [Mus musculus] [ReferenceIsoform:414087] UniProt:Q9ET47-1 Espn [Mus musculus] |
| (referenceEntity) | [EntityWithAccessionedSequence:9662402] Espn [cytosol] [Mus musculus] |
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No pathways have been reviewed or authored by UniProt:Q9ET47 Espn (355052)
