Homo sapiens Gene: LCA5
Summary
InnateDB Gene IDBG-93482.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol LCA5
Gene Name Leber congenital amaurosis 5
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000135338
Encoded Proteins
Leber congenital amaurosis 5
Leber congenital amaurosis 5
Leber congenital amaurosis 5
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described. [provided by RefSeq, Oct 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:79484991-79537458
Strand Reverse strand
Band q14.1
Transcripts
ENST00000369846 ENSP00000358861
ENST00000392959 ENSP00000376686
ENST00000467898 ENSP00000474463
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0032403 protein complex binding
Biological Process
GO:0015031 protein transport
GO:0042073 intraciliary transport
GO:0045494 photoreceptor cell maintenance
Cellular Component
GO:0005737 cytoplasm
GO:0005815 microtubule organizing center
GO:0005929 cilium
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.21945 Hs.617148
RefSeq NM_001122769 NM_181714 XM_005248665
HUGO
OMIM
CCDS CCDS4990
HPRD 10791
IMGT
EMBL
GenPept
RNA Seq Atlas