| URN | urn:agi-llid:83715 |
|---|---|
| Total Entities | 0 |
| Connectivity | 38 |
| Name | Espn |
| Description | espin |
| Notes | 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] |
| Ariadne Ontology | Actin-based cytoskeleton assembly |
|---|
| GO Molecular Function | actin binding |
|---|---|
| actin filament binding | |
| SH3 domain binding |
| GO Cellular Component | cell junction |
|---|---|
| stereocilium | |
| stereocilium bundle tip | |
| filamentous actin | |
| cell projection | |
| cytoplasm | |
| stereocilium bundle | |
| cytoskeleton | |
| actin cytoskeleton | |
| dendritic spine | |
| microvillus | |
| brush border |
| GO Biological Process | negative regulation of cytoskeleton organization |
|---|---|
| positive regulation of filopodium assembly | |
| actin filament organization | |
| actin filament bundle assembly | |
| actin filament network formation | |
| parallel actin filament bundle assembly | |
| locomotory behavior | |
| sensory perception of sound |
| Pathway | auditory mechanotransduction pathway |
|---|
| Group | Actin-based cytoskeleton assembly |
|---|---|
| negative regulation of cytoskeleton organization | |
| positive regulation of filopodium assembly | |
| actin filament organization | |
| actin filament bundle assembly | |
| actin filament network formation | |
| parallel actin filament bundle assembly | |
| locomotory behavior | |
| sensory perception of sound | |
| actin binding | |
| actin filament binding | |
| SH3 domain binding | |
| cell junction | |
| stereocilium | |
| stereocilium bundle tip | |
| filamentous actin | |
| cell projection | |
| cytoplasm | |
| stereocilium bundle | |
| cytoskeleton | |
| actin cytoskeleton | |
| dendritic spine | |
| microvillus | |
| brush border |
| MedScan ID | 83715 |
|---|
| Hugo ID | 13281 |
|---|
| Human chromosome position | 1p36.31 |
|---|
| LocusLink ID | 83715 |
|---|---|
| 56226 | |
| 56227 |
| Alias | DFNB36 |
|---|---|
| LP2654 | |
| espin | |
| ectoplasmic specialization protein | |
| autosomal recessive deafness type 36 protein | |
| je | |
| RP23-284C20.3 | |
| jerker | |
| actin cytoskeletal regulatory protein | |
| Jerker, deafness locus | |
| Purkinje cell espin | |
| OTTMUSP00000011003 | |
| OTTMUSP00000011004 | |
| OTTMUSP00000011005 | |
| OTTMUSP00000011006 | |
| OTTMUSP00000019101 | |
| OTTMUSP00000019103 | |
| OTTMUSP00000019104 | |
| OTTMUSP00000019105 | |
| OTTMUSP00000019107 | |
| OTTMUSP00000019112 | |
| OTTHUMP00000000828 | |
| OTTMUSP00000019106 | |
| OTTMUSP00000019109 | |
| DKFZp434G2126 | |
| LP-2654 | |
| OTTMUSP00000019108 | |
| deafness, autosomal recessive 36 | |
| DKFZP434A196 | |
| LOC295565 | |
| jerker protein | |
| LOC148644 | |
| ESPN | |
| LP(2654) | |
| LP 2654 |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 606351 |
|---|---|
| 609006 |
| Unigene ID | Hs.147953 |
|---|---|
| Mm.264215 | |
| Rn.91373 |
| KEGG ID | hsa:83715 |
|---|---|
| mmu:56226 | |
| rno:56227 |
| Swiss-Prot Accession | B1AK53 |
|---|---|
| Q9DD12 | |
| Q9ET47 | |
| Q63618 | |
| A2AK06 | |
| A2AK09 | |
| A2AK13 | |
| B1AWP3 | |
| B1AWP6 | |
| B1AWQ2 | |
| Q6GYS0 | |
| Q6GYS1 | |
| Q80ZC0 | |
| Q80ZC1 | |
| Q80ZC2 | |
| Q80ZC3 | |
| Q9QY27 | |
| Q6GYS2 | |
| Q6GYS3 | |
| Q80ZB6 | |
| Q80ZB7 | |
| Q80ZB8 | |
| Q80ZB9 | |
| Q9Z2B4 | |
| Q6XYB2 | |
| Q9H0A2 | |
| Q9Y329 |
| GO ID | 0017124 |
|---|---|
| 0051015 | |
| 0007626 | |
| 0051494 | |
| 0030046 | |
| 0007605 | |
| 0005903 | |
| 0005737 | |
| 0031941 | |
| 0032420 | |
| 0003779 | |
| 0051017 | |
| 0051639 | |
| 0051491 | |
| 0015629 | |
| 0030054 | |
| 0042995 | |
| 0005856 | |
| 0005902 | |
| 0032421 | |
| 0032426 | |
| 0007015 | |
| 0043197 |
| Swiss-Prot ID | ESPN_MOUSE |
|---|---|
| ESPN_RAT | |
| ESPN_HUMAN |
| Cell Localization | Cytoplasm |
|---|---|
| cytoskeleton | |
| Cell projection | |
| stereocilium | |
| microvillus | |
| Cell junction | |
| dendritic spine |
| IPI ID | IPI00113560 |
|---|---|
| IPI00330935 | |
| IPI00403989 | |
| IPI00410784 | |
| IPI00410785 | |
| IPI00659393 | |
| IPI00775777 | |
| IPI00895556 | |
| IPI00327163 | |
| IPI00331939 | |
| IPI00454536 | |
| IPI00895582 | |
| IPI00895589 | |
| IPI00895596 | |
| IPI00895602 | |
| IPI00948187 | |
| IPI00027820 | |
| IPI00642699 |
| Mouse chromosome position | 4 80.1 cM |
|---|
| Rat chromosome position | 5q36 |
|---|
| Homologene ID | 23164 |
|---|
| MGI ID | 1861630 |
|---|
| RGD ID | 620652 |
|---|
| Primary Cell Localization | Cytoplasm |
|---|