USH1G

Also known as ANKS4A, SANS, USH1 protein network component sans

Usher syndrome type-1G protein is a protein that in humans is encoded by the USH1G gene.

Gene data

USH1G

Name: USH1 protein network component sans
Type: protein-coding
Position: 74,916,083–74,923,256 (−)
Aliases: ANKS4A, SANS
Ensembl: ENSG00000182040
RefSeq RNA: NM_001282489.3, NM_173477.5, XM_011524296.2, XM_054314993.1
RefSeq protein: NP_001269418.1, NP_775748.2, XP_011522598.1, XP_054170968.1

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].

Pathways

Sensory processing of sound Sensory processing of sound by inner hair cells of the cochlea Sensory processing of sound by outer hair cells of the cochlea Sensory Perception

via MyGene.info

Gene · Ensembl

USH1 protein network component sans

Symbol: USH1G
Biotype: Protein coding
Organism: Homo sapiens
Location: 17:74,916,083-74,923,256
Strand: Reverse (−)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of: gene

Show 7 more facts

HomoloGene ID: 56113
found in taxon: Homo sapiens
exact match: identifiers.org/ncbigene/124590
genomic end: 72919351
genomic start: 74916083
chromosome: human chromosome 17
cytogenetic location: 17q25.1

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Encyclopedic overview

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References
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Usher syndrome type-1G protein is a protein that in humans is encoded by the USH1G gene.

This gene encodes a protein that contains three ankyrin repeat 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.

Excerpted from Wikipedia’s “USH1G” article, available under the CC BY-SA 4.0 licence.