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USH1C (NM_001297764) - USH1 protein network component harmonin

Harmonin Isoform C

PTM Interaction Network Visualisation

Protein summary

This is an alternative isoform of USH1C protein. View all 3 isoforms
USH1C: harmonin isoform c
Description:

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
533 residues
All mutations
150
PTM sites
2
CDS
17,515,910 - 17,565,854
Transcription
17,515,441 - 17,565,963
32.08% of sequence is predicted to be disordered

Usage summary

Network

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PTM site

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Kinases group

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Kinase, PTM site or protein

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 10083
UniProt
Ensembl