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Details on Person UniProt:B1AK53 ESPN

Class:IdReferenceGeneProduct:355050
_chainChangeLogchain:1-854 added on Fri February 6 2015
_displayNameUniProt:B1AK53 ESPN
_timestamp2024-11-03 20:09:52
chainchain:1-854
checksum34B771071F733B62
commentFUNCTION 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
descriptionrecommendedName: Espin alternativeName: Autosomal recessive deafness type 36 protein alternativeName: Ectoplasmic specialization protein
geneNameESPN
DFNB36
LP2654
identifierB1AK53
isSequenceChangedFALSE
keywordActin-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
nameESPN
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:9000033] ENSEMBL:ENSG00000187017 ESPN [Homo sapiens]
secondaryIdentifierESPN_HUMAN
Q6XYB2
Q9H0A2
Q9Y329
sequenceLength854
species[Species:48887] Homo sapiens
(isoformParent)[ReferenceIsoform:355051] UniProt:B1AK53-2 ESPN [Homo sapiens]
[ReferenceIsoform:401061] UniProt:B1AK53-1 ESPN [Homo sapiens]
(referenceEntity)[EntityWithAccessionedSequence:9662418] ESPN [cytosol] [Homo sapiens]
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