Sequence in raw or FASTA format:
USH1C Usher syndrome 1C (autosomal recessive, severe) [Homo sapiens (human)]
|Entrez Gene ID||10083|
|Full Name||Usher syndrome 1C (autosomal recessive, severe)|
|Synonyms||AIE-75, DFNB18, DFNB18A, NY-CO-37, NY-CO-38, PDZ-45, PDZ-73, PDZ-73/NY-CO-38, PDZ73, PDZD7C, ush1cpst|
|General protein information||
|Organism||Homo sapiens (human)|
|Summary||This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009].|
Usher syndrome, type 1C, 276904 (3); Deafness, autosomal recessive
|Homo sapiens (human)||USH1C||NP_710142.1|
|Pan troglodytes (chimpanzee)||USH1C||XP_003951893.1|
|Canis lupus familiaris (dog)||USH1C||XP_005633777.1|
|Bos taurus (cattle)||USH1C||NP_001030459.1|
|Mus musculus (house mouse)||Ush1c||NP_710143.2|
|Gallus gallus (chicken)||USH1C||XP_421006.4|
|Danio rerio (zebrafish)||ush1c||NP_001035018.1|
|Xenopus (Silurana) tropicalis (western clawed frog)||ush1c||NP_001096522.1|
|GO:0000086||G2/M transition of mitotic cell cycle||IMP|
|GO:0007605||sensory perception of sound||IMP|
|GO:0030046||parallel actin filament bundle assembly||IEA|
|GO:0042472||inner ear morphogenesis||IEA|
|GO:0042491||auditory receptor cell differentiation||IEA|
|GO:0045494||photoreceptor cell maintenance||IMP|
|GO:0050953||sensory perception of light stimulus||IMP|
|GO:0001750||photoreceptor outer segment||IEA|
|GO:0001917||photoreceptor inner segment||IEA|
|GO:0045177||apical part of cell||IDA|
What is the normal function of the USH1C gene?
The USH1C gene carries the instructions for the production of a protein called harmonin. Harmonin has the ability to bind to many other proteins in cell membranes and coordinates their activities. Harmonin sometimes acts as a bridge linking proteins in the cell membrane to those in the cytoskeleton, the internal framework that supports the cell.
Research suggests that harmonin plays a role in the development and maintenance of hairlike projections called stereocilia. Stereocilia line the inner ear and bend in response to sound waves. This bending motion is critical for converting sound waves to nerve impulses, an essential process for normal hearing. In the inner ear, protein complexes organized by harmonin probably act as connectors that link stereocilia into a bundle. This protein complex likely helps regulate the transmission of sound waves.
Harmonin is also made in specialized cells called photoreceptors. These cells detect and transfer light energy to the light-sensitive tissue at the back of the eye (the retina). The function of the harmonin-protein complex in the retina is not well understood, but it is thought to be important in the development and function of photoreceptor cells.
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