USH1G

Usher syndrome type-1G protein is a protein that in humans is encoded by the USH1G gene.^[5][6]

PDBOrtholog search: PDBe RCSB

AliasesUSH1G, ANKS4A, SANS, USH1 protein network component sans

External IDsOMIM: 607696; MGI: 2450757; HomoloGene: 56113; GeneCards: USH1G; OMA:USH1G - orthologs

Chr.Chromosome 17 (human)^[1]

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USH1G
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2L7T, 3K1R, 3PVL
Identifiers
Aliases	USH1G, ANKS4A, SANS, USH1 protein network component sans
External IDs	OMIM: 607696; MGI: 2450757; HomoloGene: 56113; GeneCards: USH1G; OMA:USH1G - orthologs
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17q25.1 Start 74,916,083 bp[1] End 74,923,256 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11 E2|11 80.84 cM Start 115,206,018 bp[2] End 115,212,867 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in testicle skin of leg right adrenal cortex left adrenal cortex skin of abdomen granulocyte smooth muscle tissue body of uterus left testis right testis Top expressed in olfactory bulb epithelium of macula of saccule of membranous labyrinth embryo organ of Corti cochlea cerebellar cortex ovary lip muscle of thigh Cortex of frontal lobe More reference expression data BioGPS More reference expression data
Gene ontology Molecular function spectrin binding protein binding protein homodimerization activity identical protein binding Cellular component photoreceptor inner segment cytoplasm ciliary basal body cytosol plasma membrane cytoskeleton membrane photoreceptor connecting cilium actin cytoskeleton Biological process inner ear receptor cell differentiation photoreceptor cell maintenance hearing inner ear morphogenesis inner ear receptor cell stereocilium organization sensory perception of light stimulus equilibrioception Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 124590 16470 Ensembl ENSG00000182040 ENSMUSG00000045288 UniProt Q495M9 Q80T11 RefSeq (mRNA) NM_001282489 NM_173477 NM_176847 RefSeq (protein) NP_001269418 NP_775748 NP_789817 Location (UCSC) Chr 17: 74.92 – 74.92 Mb Chr 11: 115.21 – 115.21 Mb PubMed search [3] [4]
Wikidata
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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.

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).^[6]