InnateDB Protein
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IDBP-365426.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ESPN
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Protein Name
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espin
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000399239
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InnateDB Gene
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IDBG-87686 (ESPN)
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Protein Structure
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Function |
Multifunctional actin-bundling protein. Plays a major role in regulating the organization, dimensions, dynamics and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in variouS mechanosensory and chemosensory cells (By similarity). {ECO:0000250}.
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Subcellular Localization |
Cytoplasm, cytoskeleton {ECO:0000250}. Cell projection, stereocilium {ECO:0000250}. Cell projection, microvillus {ECO:0000250}.
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Disease Associations |
Deafness, autosomal recessive, 36, with or without vestibular involvement (DFNB36) [MIM:609006]: A form of non- syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB36 is characterized by prelingual, profound hearing loss, and vestibular areflexia in some patients. {ECO:0000269PubMed:15286153, ECO:0000269PubMed:15930085}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR003124
WH2 domain
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PFAM |
PF02205
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PRINTS |
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PIRSF |
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SMART |
SM00246
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TIGRFAMs |
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Modification |
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SwissProt |
B1AK53
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PhosphoSite |
PhosphoSite-B1AK53
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TrEMBL |
K7EMB7
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UniProt Splice Variant |
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Entrez Gene |
83715
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UniGene |
Hs.741791
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RefSeq |
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HUGO |
HGNC:13281
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OMIM |
606351
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CCDS |
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HPRD |
06962
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IMGT |
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EMBL |
AF134401
AL031848
AL136880
AL158217
AY203958
CH471130
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GenPept |
AAD24480
AAP34481
CAB66814
CAI19773
CAI22163
EAW71537
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