InnateDB Protein
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IDBP-244602.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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LCA5
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Protein Name
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Leber congenital amaurosis 5
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000376686
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InnateDB Gene
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IDBG-93482 (LCA5)
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Protein Structure
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Function |
Might be involved in minus end-directed microtubule transport.
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Subcellular Localization |
Cytoplasm, cytoskeleton {ECO:0000269PubMed:17546029}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269PubMed:17546029}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269PubMed:17546029}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269PubMed:17546029}. Note=In non- ciliated cells, localizes to the centrosome and its associated microtubule array.
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Disease Associations |
Leber congenital amaurosis 5 (LCA5) [MIM:604537]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269PubMed:17546029, ECO:0000269PubMed:18000884, ECO:0000269PubMed:18334959}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
1
[view]
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Protein-Protein |
1
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q86VQ0
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PhosphoSite |
PhosphoSite-Q86VQ0
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TrEMBL |
A7X9N5
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UniProt Splice Variant |
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Entrez Gene |
167691
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UniGene |
Hs.617148
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RefSeq |
NP_859065
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HUGO |
HGNC:31923
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OMIM |
611408
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CCDS |
CCDS4990
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HPRD |
10791
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IMGT |
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EMBL |
AL391840
BC050327
CH471051
EU051380
EU113296
EU113297
EU113298
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GenPept |
AAH50327
ABU63588
ABU63589
ABU63590
ABU63591
CAC37303
EAW48705
EAW48706
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