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Ask your administrator if you think this is wrong. ======= CLRN1 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: CLRN1 * **<color #00a2e8>Official Name</color>**: clarin 1 * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=7401|7401]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P58418|P58418]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=CLRN1&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20CLRN1|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/606397|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: This gene encodes a protein that contains a cytosolic N-terminus, multiple helical transmembrane domains, and an endoplasmic reticulum membrane retention signal, TKGH, in the C-terminus. The encoded protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIIa. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. * **<color #00a2e8>UniProt Summary</color>**: May have a role in the excitatory ribbon synapse junctions between hair cells and cochlear ganglion cells and presumably also in analogous synapses within the retina. {ECO:0000269|PubMed:12080385}. <button type='default' 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'> No Pfam Domain information is available for this gene. </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |equilibrioception| |auditory receptor cell stereocilium organization| |auditory receptor cell morphogenesis| |basal part of cell| |trans-Golgi network transport vesicle| |auditory receptor cell development| |positive regulation of lamellipodium assembly| |inner ear auditory receptor cell differentiation| |positive regulation of lamellipodium organization| |inner ear receptor cell stereocilium organization| |regulation of lamellipodium assembly| |stereocilium| |hair cell differentiation| |photoreceptor cell maintenance| |inner ear receptor cell development| |regulation of lamellipodium organization| |neuroepithelial cell differentiation| |columnar/cuboidal epithelial cell development| |inner ear receptor cell differentiation| |neuromuscular process controlling balance| |mechanoreceptor differentiation| |microvillus| |retina homeostasis| |columnar/cuboidal epithelial cell differentiation| |inner ear morphogenesis| |positive regulation of plasma membrane bounded cell projection assembly| |neuromuscular process| |ear morphogenesis| |sensory perception of sound| |sensory perception of mechanical stimulus| |lamellipodium| |tissue homeostasis| |epithelial cell development| |inner ear development| |regulation of plasma membrane bounded cell projection assembly| |regulation of cell projection assembly| |visual perception| |ear development| |sensory perception of light stimulus| |actin filament organization| |sensory organ morphogenesis| |embryonic organ morphogenesis| |epidermal cell differentiation| |microtubule| |multicellular organismal homeostasis| |anatomical structure homeostasis| |positive regulation of cell projection organization| |epidermis development| |cell morphogenesis involved in neuron differentiation| |embryonic organ development| |supramolecular fiber organization| |actin cytoskeleton organization| |positive regulation of cellular component biogenesis| |sensory organ development| |cell morphogenesis involved in differentiation| |embryonic morphogenesis| |actin filament-based process| |neuron projection development| |epithelial cell differentiation| |regulation of plasma membrane bounded cell projection organization| |regulation of cell projection organization| |cell morphogenesis| |neuron development| |cellular component morphogenesis| |animal organ morphogenesis| |regulation of cellular component biogenesis| |sensory perception| |embryo development| |neuron differentiation| |cell motility| |localization of cell| |cytoskeleton organization| |epithelium development| |plasma membrane bounded cell projection organization| |cell projection organization| |positive regulation of cellular component organization| |locomotion| |nervous system process| |generation of neurons| |movement of cell or subcellular component| |neurogenesis| |homeostatic process| |cell development| |tissue development| |system process| </modal> \\ === CRISPR Data === <button type='primary' 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'> ^Screen^Score^ |[[:results:exp144|PFI-3 10μM R03 exp144]]|2.16| </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: 0/739 ^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>**: 13068 * **<color #00a2e8>Expression level (log2 read counts)</color>**: -0.77 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='CLRN1 Expression in NALM6 Cells: -0.77'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2025/12/10 20:19by 127.0.0.1