USH1C (NM_153676) - USH1 protein network component harmonin
Harmonin Isoform B3
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Protein
Kinases
Sites
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Interactions
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PTM Interaction Network Visualisation
Protein 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].
- Strand
- -
- Chromosome
- 11
- Protein
- 899 residues
- All mutations
- 243
- PTM sites
- 7
- CDS
- 17,515,878 - 17,565,854
- Transcription
- 17,515,441 - 17,565,963
Usage summary
Network
PTM site
Kinases group
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Kinase, PTM site or protein
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