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Aliases for LCA5 Gene

Aliases for LCA5 Gene

  • Leber Congenital Amaurosis 5 2 3
  • C6orf152 3 4 6
  • Leber Congenital Amaurosis 5 Protein 3 4
  • Lebercilin 2 3
  • Chromosome 6 Open Reading Frame 152 2

External Ids for LCA5 Gene

Previous HGNC Symbols for LCA5 Gene

  • C6orf152

Previous GeneCards Identifiers for LCA5 Gene

  • GC06U990222
  • GC06M080252
  • GC06M077415

Summaries for LCA5 Gene

Entrez Gene Summary for LCA5 Gene

  • 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]

GeneCards Summary for LCA5 Gene

LCA5 (Leber Congenital Amaurosis 5) is a Protein Coding gene. Diseases associated with LCA5 include leber congenital amaurosis 5 and leber congenital amaurosis. GO annotations related to this gene include protein complex binding. An important paralog of this gene is LCA5L.

UniProtKB/Swiss-Prot for LCA5 Gene

  • Might be involved in minus end-directed microtubule transport

Gene Wiki entry for LCA5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LCA5 Gene

Genomics for LCA5 Gene

Regulatory Elements for LCA5 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for LCA5 Gene

Start:
79,484,991 bp from pter
End:
79,537,458 bp from pter
Size:
52,468 bases
Orientation:
Minus strand

Genomic View for LCA5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LCA5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LCA5 Gene

Proteins for LCA5 Gene

  • Protein details for LCA5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86VQ0-LCA5_HUMAN
    Recommended name:
    Lebercilin
    Protein Accession:
    Q86VQ0
    Secondary Accessions:
    • E1P542
    • Q9BWX7

    Protein attributes for LCA5 Gene

    Size:
    697 amino acids
    Molecular mass:
    80554 Da
    Quaternary structure:
    • Interacts with NINL. Interacts with OFD1. Interacts with FAM161A.

neXtProt entry for LCA5 Gene

Proteomics data for LCA5 Gene at MOPED

Post-translational modifications for LCA5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LCA5 Gene

No data available for DME Specific Peptides for LCA5 Gene

Domains for LCA5 Gene

Protein Domains for LCA5 Gene

Suggested Antigen Peptide Sequences for LCA5 Gene

Graphical View of Domain Structure for InterPro Entry

Q86VQ0

UniProtKB/Swiss-Prot:

LCA5_HUMAN :
  • Q86VQ0
Family:
  • Belongs to the LCA5 family.
genes like me logo Genes that share domains with LCA5: view

No data available for Gene Families for LCA5 Gene

Function for LCA5 Gene

Molecular function for LCA5 Gene

UniProtKB/Swiss-Prot Function: Might be involved in minus end-directed microtubule transport

Gene Ontology (GO) - Molecular Function for LCA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19800048
GO:0032403 protein complex binding IDA 21606596
genes like me logo Genes that share ontologies with LCA5: view
genes like me logo Genes that share phenotypes with LCA5: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for LCA5 Gene

Localization for LCA5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LCA5 Gene

Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=In non- ciliated cells, localizes to the centrosome and its associated microtubule array.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LCA5 Gene COMPARTMENTS Subcellular localization image for LCA5 gene
Compartment Confidence
cytoskeleton 5
nucleus 3
cytosol 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for LCA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005815 microtubule organizing center IEA --
GO:0005856 cytoskeleton --
GO:0005929 cilium IDA 21606596
genes like me logo Genes that share ontologies with LCA5: view

Pathways for LCA5 Gene

SuperPathways for LCA5 Gene

No Data Available

Interacting Proteins for LCA5 Gene

Gene Ontology (GO) - Biological Process for LCA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015031 protein transport IEA --
GO:0042073 intraciliary transport IEA --
GO:0045494 photoreceptor cell maintenance IEA --
genes like me logo Genes that share ontologies with LCA5: view

No data available for Pathways by source for LCA5 Gene

Transcripts for LCA5 Gene

Unigene Clusters for LCA5 Gene

Leber congenital amaurosis 5:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LCA5

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LCA5 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1:
SP2: - -
SP3: -

Relevant External Links for LCA5 Gene

GeneLoc Exon Structure for
LCA5
ECgene alternative splicing isoforms for
LCA5

Expression for LCA5 Gene

mRNA expression in normal human tissues for LCA5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for LCA5 Gene

SOURCE GeneReport for Unigene cluster for LCA5 Gene Hs.21945

genes like me logo Genes that share expressions with LCA5: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for LCA5 Gene

Orthologs for LCA5 Gene

This gene was present in the common ancestor of animals.

Orthologs for LCA5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LCA5 35
  • 99.47 (n)
  • 99.14 (a)
LCA5 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LCA5 35
  • 83.33 (n)
  • 72.73 (a)
LCA5 36
  • 72 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LCA5 35
  • 88.71 (n)
  • 83.79 (a)
LCA5 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lca5 35
  • 76.62 (n)
  • 70.13 (a)
Lca5 16
Lca5 36
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LCA5 36
  • 44 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LCA5 36
  • 41 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lca5 35
  • 75.71 (n)
  • 69.84 (a)
chicken
(Gallus gallus)
Aves LCA5 35
  • 62.76 (n)
  • 51.29 (a)
LCA5 36
  • 46 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LCA5 36
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497171 35
  • 59.69 (n)
  • 49.04 (a)
Str.17809 35
zebrafish
(Danio rerio)
Actinopterygii lca5 35
  • 49.9 (n)
  • 42.63 (a)
lca5 36
  • 29 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG6652 36
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 23 (a)
OneToOne
Species with no ortholog for LCA5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LCA5 Gene

ENSEMBL:
Gene Tree for LCA5 (if available)
TreeFam:
Gene Tree for LCA5 (if available)

Paralogs for LCA5 Gene

Paralogs for LCA5 Gene

Selected SIMAP similar genes for LCA5 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with LCA5: view

Variants for LCA5 Gene

Sequence variations from dbSNP and Humsavar for LCA5 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs767789 -- 79,523,651(+) GGTTA(C/T)ATGGT intron-variant
rs1485363 -- 79,501,990(-) CCCAC(C/T)GCCCT intron-variant
rs1485364 -- 79,501,812(-) CTATA(G/T)AGAAC intron-variant
rs1485365 -- 79,501,691(-) aatat(A/G)caata intron-variant
rs1827628 -- 79,527,790(-) aaccc(A/C)tatac intron-variant

Structural Variations from Database of Genomic Variants (DGV) for LCA5 Gene

Variant ID Type Subtype PubMed ID
dgv6930n71 CNV Gain 21882294
nsv830707 CNV Gain 17160897
nsv886303 CNV Gain 21882294
nsv463906 CNV Loss 19166990

Relevant External Links for LCA5 Gene

HapMap Linkage Disequilibrium report
LCA5
Human Gene Mutation Database (HGMD)
LCA5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LCA5 Gene

Disorders for LCA5 Gene

(1) OMIM Diseases for LCA5 Gene (611408)

UniProtKB/Swiss-Prot

LCA5_HUMAN
  • 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:0000269 PubMed:17546029, ECO:0000269 PubMed:18000884, ECO:0000269 PubMed:18334959}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for LCA5 Gene

Relevant External Links for LCA5

GeneTests
LCA5
GeneReviews
LCA5
Genetic Association Database (GAD)
LCA5
Human Genome Epidemiology (HuGE) Navigator
LCA5
genes like me logo Genes that share disorders with LCA5: view

Publications for LCA5 Gene

  1. Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. (PMID: 17546029) den Hollander A.I. … Roepman R. (Nat. Genet. 2007) 2 3 4
  2. Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II. (PMID: 18000884) Gerber S. … Rozet J.-M. (Hum. Mutat. 2007) 3 4
  3. Identification of a novel splice-site mutation in the lebercilin (LCA5) gene causing Leber congenital amaurosis. (PMID: 18334959) Ramprasad V.L. … Kumaramanickavel G. (Mol. Vis. 2008) 3 4
  4. LCA5, a rare genetic cause of leber congenital amaurosis in Koreans. (PMID: 19172513) Seong M.W. … Park S.S. (Ophthalmic Genet. 2009) 3 48
  5. A novel locus for Leber congenital amaurosis maps to chromosome 6q. (PMID: 10631161) Dharmaraj S. … Maumenee I.H. (Am. J. Hum. Genet. 2000) 2 3

Products for LCA5 Gene

Sources for LCA5 Gene

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