Human Gene ESPN (ENST00000645284.1) from GENCODE V44
Description: Homo sapiens espin (ESPN), transcript variant 1, mRNA. (from RefSeq NM_031475) RefSeq Summary (NM_031475): This gene encodes a multifunctional actin-bundling protein. It 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. Mutations in this gene are associated with autosomal recessive neurosensory deafness, and autosomal dominant sensorineural deafness without vestibular involvement. [provided by RefSeq, Nov 2009]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Gencode Transcript: ENST00000645284.1 Gencode Gene: ENSG00000187017.18 Transcript (Including UTRs) Position: hg38 chr1:6,424,776-6,460,944 Size: 36,169 Total Exon Count: 13 Strand: + Coding Region Position: hg38 chr1:6,424,956-6,460,146 Size: 35,191 Coding Exon Count: 13
ID:ESPN_HUMAN DESCRIPTION: RecName: Full=Espin; AltName: Full=Autosomal recessive deafness type 36 protein; AltName: Full=Ectoplasmic specialization protein; 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). SUBUNIT: Monomer (By similarity). Binds F-actin in a Ca(2+)- resistant fashion (By similarity). Interacts (via N-terminal) with BAIAP2 (via SH3-domain) (By similarity). Interacts with PFN2 (By similarity). SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton (By similarity). Cell projection, stereocilium (By similarity). Cell projection, microvillus (By similarity). DOMAIN: The WH2-domain binds actin monomer and mediates actin bundle assembly (By similarity). DISEASE: Defects in ESPN are the cause of deafness autosomal recessive type 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. SIMILARITY: Contains 9 ANK repeats. SIMILARITY: Contains 1 WH2 domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on B1AK53
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.