Sequence in raw or FASTA format:
USH1G Usher syndrome 1G (autosomal recessive) [Homo sapiens (human)]
|Entrez Gene ID||124590|
|Full Name||Usher syndrome 1G (autosomal recessive)|
|General protein information||
|Organism||Homo sapiens (human)|
|Summary||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). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013].|
Usher syndrome, type 1G, 606943 (3)
|Homo sapiens (human)||USH1G||NP_775748.2|
|Pan troglodytes (chimpanzee)||USH1G||XP_523715.2|
|Canis lupus familiaris (dog)||USH1G||XP_852112.2|
|Bos taurus (cattle)||USH1G||NP_001179631.1|
|Mus musculus (house mouse)||Ush1g||NP_789817.1|
|Rattus norvegicus (Norway rat)||Ush1g||NP_001099320.1|
|Gallus gallus (chicken)||USH1G||XP_426242.2|
|Danio rerio (zebrafish)||LOC100330314||XP_002661315.1|
|Drosophila melanogaster (fruit fly)||Sans||NP_788340.1|
|Xenopus (Silurana) tropicalis (western clawed frog)||ush1g||XP_002939606.1|
|GO:0007605||sensory perception of sound||IMP|
|GO:0042472||inner ear morphogenesis||IEA|
|GO:0045494||photoreceptor cell maintenance||IMP|
|GO:0050953||sensory perception of light stimulus||IMP|
|GO:0060113||inner ear receptor cell differentiation||IEA|
|GO:0042803||protein homodimerization activity||IEA|
|PDB||3K1R, 3PVL, 2L7T|
What is the normal function of the USH1G gene?
The USH1G gene provides instructions for making a protein called SANS. This protein is found in cells of the inner ear and the part of the eye that detects light and color (the retina). SANS interacts with other proteins, forming a larger protein complex that is critical for the development and function of the retina and inner ear.
In the inner ear, SANS promotes the proper development and maintenance of the hair bundles, tufts of hairlike projections on cells lining the inner ear. These hairlike projections, called stereocilia, bend in response to sound waves and transmit signals to the brain.
In the retina, SANS probably plays a role in the formation and maintenance of specialized retinal cells that detect light and color (photoreceptor cells).
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