Human Gene C8orf37 (ENST00000286688.6) Description and Page Index
Description: Homo sapiens chromosome 8 open reading frame 37 (C8orf37), transcript variant 1, mRNA. (from RefSeq NM_177965) RefSeq Summary (NM_177965): This gene encodes a ubiquitously expressed protein of unknown function. It has high levels of mRNA expression in the brain, heart, and retina and the protein co-localizes with polyglutamylated tubulin at the base of the primary cilium in human retinal pigment epithelial cells. Mutations in this gene have been associated with autosomal recessive cone-rod dystrophy (arCRD) and retinitis pigmentosa (arRP). [provided by RefSeq, Mar 2012]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC150301.1, SRR1803614.155999.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1968540 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000286688.6/ ENSP00000286688.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Gencode Transcript: ENST00000286688.6 Gencode Gene: ENSG00000156172.6 Transcript (Including UTRs) Position: hg38 chr8:95,244,913-95,269,201 Size: 24,289 Total Exon Count: 6 Strand: - Coding Region Position: hg38 chr8:95,247,617-95,269,189 Size: 21,573 Coding Exon Count: 6
ID:CH037_HUMAN DESCRIPTION: RecName: Full=Protein C8orf37; SUBCELLULAR LOCATION: Cytoplasm. Note=In the retina, located at the base of the primary cilium. TISSUE SPECIFICITY: Widely expressed, with highest levels in heart and brain. Also expressed in the retina (at protein level). DISEASE: Defects in C8orf37 are the cause of cone-rod dystrophy type 16 (CORD16) [MIM:614500]. An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. DISEASE: Defects in C8orf37 are the cause of retinitis pigmentosa type 64 (RP64) [MIM:614500]. 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.
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.
Protein Domain and Structure Information
ModBase Predicted Comparative 3D Structure on Q96NL8
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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.