USH1G

GENE INFORMATION

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Gene name

USH1G (HGNC Symbol)

Synonyms

ANKS4A, FLJ33924, Sans

Description

Usher syndrome 1G (autosomal recessive) (HGNC Symbol)

Entrez gene 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]

Chromosome

17

Cytoband

q25.1

Chromosome location (bp)

72912176 - 72919351

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000182040 (version 75.37)

Entrez gene

124590

UniProt

Q495M9 (UniProt - Evidence at protein level)

neXtProt

NX_Q495M9

Antibodypedia

USH1G antibodies
 

PROTEIN VIEW

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USH1G-001
 
USH1G-002
 
 
 
 
 

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)

USH1G-001 ENSP00000320076
ENST00000319642
Q495M9
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Show » Show » 461 51.5 No 0
USH1G-002 ENSP00000462568
ENST00000579243
J3KSN5
Show all »
115 12.7 No 0