| URN | urn:agi-llid:124590 |
|---|---|
| Total Entities | 0 |
| Connectivity | 14 |
| Name | Ush1g |
| Description | Usher syndrome 1G (autosomal recessive) |
| Notes | This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G). [provided by RefSeq, Jul 2008] |
| GO Molecular Function | protein homodimerization activity |
|---|
| GO Cellular Component | membrane |
|---|---|
| plasma membrane | |
| cytoplasm | |
| cytosol | |
| cytoskeleton | |
| actin cytoskeleton |
| GO Biological Process | inner ear receptor cell differentiation |
|---|---|
| inner ear morphogenesis | |
| equilibrioception | |
| sensory perception of light stimulus | |
| sensory perception of sound | |
| photoreceptor cell maintenance |
| Pathway | auditory mechanotransduction pathway |
|---|
| Group | inner ear receptor cell differentiation |
|---|---|
| inner ear morphogenesis | |
| equilibrioception | |
| sensory perception of light stimulus | |
| sensory perception of sound | |
| photoreceptor cell maintenance | |
| protein homodimerization activity | |
| membrane | |
| plasma membrane | |
| cytoplasm | |
| cytosol | |
| cytoskeleton | |
| actin cytoskeleton |
| MedScan ID | 124590 |
|---|
| Hugo ID | 16356 |
|---|
| Human chromosome position | 17q25.1 |
|---|
| LocusLink ID | 124590 |
|---|---|
| 16470 | |
| 287819 |
| Alias | SANS |
|---|---|
| ANKS4A | |
| Usher syndrome type-1G protein | |
| scaffold protein containing ankyrin repeats and SAM domain | |
| js | |
| RP23-117K15.6 | |
| Usher syndrome type-1G protein homolog | |
| jackson shaker protein | |
| Usher syndrome 1G homolog | |
| scaffold protein, amkyrin repeats and SAM domain containing | |
| scaffold protein, ankyrin repeats and SAM domain containing | |
| Usher syndrome 1G (autosomal recessive) | |
| Usher syndrome 1G | |
| USH1G | |
| OTTMUSP00000003981 | |
| LOC193227 | |
| Jackson shaker | |
| FLJ33924 | |
| Usher syndrome 1G homolog (human) |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 607696 |
|---|---|
| 606943 |
| Unigene ID | Hs.376688 |
|---|---|
| Mm.451539 | |
| Rn.218468 |
| KEGG ID | hsa:124590 |
|---|---|
| mmu:16470 | |
| rno:287819 |
| Swiss-Prot Accession | Q495M9 |
|---|---|
| Q0VBT9 | |
| Q80T11 | |
| D3ZTY5 | |
| Q80UG0 | |
| Q8N251 |
| GO ID | 0042803 |
|---|---|
| 0050957 | |
| 0042472 | |
| 0060113 | |
| 0045494 | |
| 0050953 | |
| 0007605 | |
| 0015629 | |
| 0005829 | |
| 0005886 | |
| 0005737 | |
| 0005856 | |
| 0016020 |
| Swiss-Prot ID | USH1G_MOUSE |
|---|---|
| USH1G_HUMAN |
| Cell Localization | Cytoplasm |
|---|---|
| cytosol | |
| cytoskeleton | |
| Cell membrane |
| IPI ID | IPI00276906 |
|---|---|
| IPI00178665 |
| Mouse chromosome position | 11 77.0 cM |
|---|
| Rat chromosome position | 10q32.2-q32.3 |
|---|
| Homologene ID | 56113 |
|---|
| MGI ID | 2450757 |
|---|
| RGD ID | 1304551 |
|---|