Human Gene CLRN1 (ENST00000327047.6) from GENCODE V44
Description: Homo sapiens clarin 1 (CLRN1), transcript variant 1, mRNA. (from RefSeq NM_174878) RefSeq Summary (NM_174878): 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]. Gencode Transcript: ENST00000327047.6 Gencode Gene: ENSG00000163646.12 Transcript (Including UTRs) Position: hg38 chr3:150,926,567-150,972,727 Size: 46,161 Total Exon Count: 3 Strand: - Coding Region Position: hg38 chr3:150,927,936-150,972,708 Size: 44,773 Coding Exon Count: 3
ID:CLRN1_HUMAN DESCRIPTION: RecName: Full=Clarin-1; AltName: Full=Usher syndrome type-3 protein; FUNCTION: 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. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential). TISSUE SPECIFICITY: Widely expressed. Found in the retina. DISEASE: Defects in CLRN1 are the cause of Usher syndrome type 3A (USH3A) [MIM:276902]. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH3 is characterized by postlingual progressive deafness and onset of retinitis pigmentosa in the second decade of life. DISEASE: Defects in CLRN1 are the cause of retinitis pigmentosa type 61 (RP61) [MIM:614180]. RP61 is a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. SIMILARITY: Belongs to the clarin family. WEB RESOURCE: Name=Mutations of the USH3A gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/ush3mut.htm"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CLRN1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P58418
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
