Show pageOld revisionsBacklinksFold/unfold allBack to top This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong. ======= USH1G ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: USH1G * **<color #00a2e8>Official Name</color>**: USH1 protein network component sans * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=124590|124590]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q495M9|Q495M9]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=USH1G&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20USH1G|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/607696|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: 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]. * **<color #00a2e8>UniProt Summary</color>**: Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing. {ECO:0000269|PubMed:21709241}. <button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> |SAM 1| |Ank 2| |Ank| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |equilibrioception| |spectrin binding| |inner ear receptor cell stereocilium organization| |photoreceptor cell maintenance| |photoreceptor connecting cilium| |inner ear receptor cell development| |photoreceptor inner segment| |inner ear receptor cell differentiation| |neuromuscular process controlling balance| |mechanoreceptor differentiation| |retina homeostasis| |inner ear morphogenesis| |neuromuscular process| |ear morphogenesis| |ciliary basal body| |sensory perception of sound| |sensory perception of mechanical stimulus| |tissue homeostasis| |inner ear development| |actin cytoskeleton| |ear development| |sensory perception of light stimulus| |sensory organ morphogenesis| |embryonic organ morphogenesis| |multicellular organismal homeostasis| |anatomical structure homeostasis| |embryonic organ development| |sensory organ development| |embryonic morphogenesis| |neuron projection development| |neuron development| |protein homodimerization activity| |animal organ morphogenesis| |sensory perception| |embryo development| |neuron differentiation| |identical protein binding| |plasma membrane bounded cell projection organization| |cell projection organization| |nervous system process| |generation of neurons| |neurogenesis| |homeostatic process| |cell development| |system process| </modal> \\ === CRISPR Data === <button type='default' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> No hits were found. </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> No correlation found to any other genes in chemogenomics. </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 2/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 6084 * **<color #00a2e8>Expression level (log2 read counts)</color>**: -0.02 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='USH1G Expression in NALM6 Cells: -0.02'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2025/12/10 20:19by 127.0.0.1