| Gene Information | |
|---|---|
| Gene Name | LCA5 |
| Organism | Homo sapiens (Human) |
| Gene Length | 697 |
| Protein Names | Lebercilin (Leber congenital amaurosis 5 protein) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 987 ( ENSG00000135338 ) |
| Evolutionary Stage | Eumetazoa |
| AlphaFoldDB | Q86VQ0 |
| Gene Card | LCA5 |
| Uniprot ID | Q86VQ0 |
| Pfam | PF15619 |
| In ASD | no |
| Allosteric Prediction | no (-1.666901286) |
| Ortholog in Animals | Alpaca_ LCA5 ( ortholog_one2one ) Dog_ LCA5 ( ortholog_one2one ) GuineaPig_ LCA5 ( ortholog_one2one ) Macaque_ LCA5 ( ortholog_one2one ) Mouse_ Lca5 ( ortholog_one2one ) Pig_ LCA5 ( ortholog_one2one ) Rat_ Lca5 ( ortholog_one2one ) Rabbit_ LCA5 ( ortholog_one2one ) |
| Ohnologs | LCA5L |
| Paralogs | LCA5L |
| Tissue | NA |
| Tissue Specificity | Widely expressed. {ECO:0000269|PubMed:17546029}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs2655655 rs34068461 rs35338066 rs35415141 rs1875845 |
| Subcellular location [CC] | Cytoplasm, cytoskeleton {ECO:0000269|PubMed:17546029}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:17546029}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:17546029}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:17546029}. Cell projection, cilium {ECO:0000269|PubMed:21606596}. Note=In non- ciliated cells, localizes to the centrosome and its associated microtubule array (PubMed:17546029). Colocalizes with IFT complex A and B proteins in the connecting cilium in primary cilia of hTERT-RPE1 cells (PubMed:21606596). {ECO:0000269|PubMed:17546029, ECO:0000269|PubMed:21606596}. |
| Mouse PG classification | HPG |
| click here to return to the previous page | |