USH1C

GENE INFORMATION

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Gene name

USH1C (HGNC Symbol)

Synonyms

AIE-75, DFNB18, harmonin, NY-CO-37, NY-CO-38, PDZ-73, PDZ73, PDZD7C

Description

Usher syndrome 1C (autosomal recessive, severe) (HGNC Symbol)

Entrez gene 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]

Chromosome

11

Cytoband

p15.1

Chromosome location (bp)

17493895 - 17544416

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000006611 (version 78.38)

Entrez gene

10083

UniProt

Q9Y6N9 (UniProt - Evidence at protein level)

neXtProt

NX_Q9Y6N9

Antibodypedia

USH1C antibodies
 

PROTEIN VIEW

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USH1C-001
 
USH1C-003
 
USH1C-005
 
USH1C-006
 
USH1C-008
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

USH1C-001 ENSP00000317018
ENST00000318024
Q9Y6N9
Show all »
Show » Show » 552 62.2 No 0
USH1C-003 ENSP00000436934
ENST00000527020
Q9Y6N9
Show all »
Show » Show » 533 60.3 No 0
USH1C-005 ENSP00000432944
ENST00000527720
Q9Y6N9
Show all »
Show » Show » 521 58.3 No 0
USH1C-006 ENSP00000005226
ENST00000005226
Q9Y6N9
Show all »
Show » Show » 899 101.3 No 0
USH1C-008 ENSP00000437128
ENST00000526181
E9PNW1
Show all »
Show » Show » 318 35.3 No 0