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Aliases & Descriptions for LCA5
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases C6orf152 2 , 3 , 5 OTTHUMP00000016774 2 OTTHUMP00000165989 2 lebercilin 2
Descriptions Leber congenital amaurosis 5 2 Leber congenital amaurosis 5 protein 3 chromosome 6 open reading frame 152 1
Search outside databases for aliases for LCA5 genePrevious GC identifer: GC06U990222
Summaries for LCA5 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for LCA5 : 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. Alternative splicing results intwo transcript variants. [provided by RefSeq] UniProtKB/Swiss-Prot: LCA5_HUMAN, Q86VQ0 Function : Might be involved in minus end-directed microtubule transport
Genomic Location for LCA5
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 6q14.1 Ensembl cytogenetic band: 6q14.1 HGNC cytogenetic band: 6q14 LCA5 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 6 GeneLoc Exon Structure
GeneLoc location for GC06M080252:
(about GC identifiers )
Start:
80,251,427 bp from pter
End:
80,565,440 bp from pter
Size:
314,014 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000006.10 NT_007299.12 Proteins for LCA5
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: LCA5_HUMAN, Q86VQ0 (See
protein sequence )Recommended Name: Lebercilin Size : 697 amino acids; 80554 Da
Subcellular location : Cytoplasm, cytoskeleton. Cell projection, cilium axoneme. Cell projection,cilium basal body. Note=In non-ciliated cells, localizes to the centrosome and its associatedmicrotubule array
Secondary accessions : Q9BWX7
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_001116241.1 NP_859065.2 ENSEMBL proteins: ENSP00000376688 ENSP00000376687 ENSP00000358861 ENSP00000376686 Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: LCA5 3 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for LCA5: Assays for LCA5:
Protein
Domains/ Families for LCA5(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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ProtoNet protein and cluster: Q86VQ0
UniProtKB/Swiss-Prot: LCA5_HUMAN, Q86VQ0 Similarity : Belongs to the LCA5 family
Gene Function for LCA5
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_181714 Applied Biosystems Silencer ® siRNAs for LCA5 Sigma-Aldrich siRNA for LCA5 Sigma-Aldrich shRNA for LCA5 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001122769                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001122769                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_001122769  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_181714 UniProtKB/Swiss-Prot: LCA5_HUMAN, Q86VQ0 Function : Might be involved in minus end-directed microtubule transport
Pathways & Interactions for LCA5
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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5/9 Interacting proteins for LCA5 (ENSP00000358861 3 ) via UniProtKB, MINT, and/or STRING (see all 9
)About this table 1 Gene Ontology (GO) biological process term (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0015031 protein transport
IEA --
About this table
Drugs & Compounds for LCA5 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for LCA5
Transcripts for LCA5(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
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shRNA from
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_181714 Sigma-Aldrich siRNA for LCA5 Sigma-Aldrich shRNA for LCA5 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_001122769 NM_181714
REFSEQ mRNAs for LCA5 gene (2 alternative transcripts): NM_001122769.1 NM_181714.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001122769 NM_181714
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001122769                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001122769                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_001122769  
Additional cDNA sequence: AK299314.1 AL832214.1 BC050327.1 BX648161.1
2 DOTS entries : DT.40247242 DT.100751233
24/56 AceView cDNA sequences (see all 56
):BM053085 BQ226190 BX097952 BM263977 AI742190 F01653 Z44254 AW166971 AI922939 CK824735 CD671730 AI287818 BQ025475 CD671729 AA348619 NM_181714 AI003684 BC050327 BQ777027 AA490709 BG720047 AA864885 CB963353 AW902230
Unigene Cluster for LCA5: Leber congenital amaurosis 5 Hs.21945 [show with all ESTs ] Unigene Representative Sequence: BC050327 GeneLoc Exon Structure 3 Alternative Splicing Database (ASD) splice patterns (SP) for LCA5 ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 SP1 :                           SP2 :       -   -                   SP3 :       -                    
About this scheme ECgene alternative splicing isoforms for LCA5 4 Ensembl transcripts including schematic representations : ENST00000392961
ENST00000392960
ENST00000369846
ENST00000392959
Expression for LCA5
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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LCA5 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for LCA5 1 / 2
9 probe-sets matching LCA5 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: ACTATTTGTCSOURCE GeneReport for Unigene cluster: Hs.21945
Orthologs for LCA5
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for LCA5 gene from 5/7 species (see all 7
)
About this table Species with no ortholog for LCA5 ENSEMBL Gene Tree for LCA5 Paralogs for LCA5 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for LCA5 gene LCA5L 2
SNPs/Variants for LCA5 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for LCA5 (up to first 250kb)
Disorders & Mutations for LCA5
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
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Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
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OMIM: 611408 disorders : 604537 UniProtKB/Swiss-Prot: LCA5_HUMAN, Q86VQ0
Defects in LCA5 are the cause of Leber congenital amaurosis type 5 (LCA5) [MIM:604537].LCA designates a clinically and genetically heterogeneous group of childhood retinaldegenerations, generally inherited in an autosomal recessive manner. Affected infants have littleor no retinal photoreceptor function as tested by electroretinography. LCA represents the mostcommon genetic cause of congenital visual impairment in infants and children
GeneTests: LCA5 Leber Congenital Amaurosis Human Gene Mutation Database : LCA5 Human Genome Epidemiology Navigator: LCA5 (1 document)
Medical News for LCA5 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for LCA5 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10 PubMed articles for LCA5 gene : Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. (PubMed id 17546029) 2, 3, 4 den Hollander A.I....Roepman R. (2007) Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis. (PubMed id 18334959) 3, 4 Ramprasad V.L....Kumaramanickavel G. (2008) Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II. (PubMed id 18000884) 3, 4 Gerber S....Rozet J.-M. (2007) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404) 3, 4 Mungall A.J.... Beck S. (2003) A novel locus for Leber congenital amaurosis maps to chromosome 6q. (PubMed id 10631161) 2, 3 Dharmaraj S....Maumenee I.H. (2000) LCA5, a rare genetic cause of leber congenital amaurosis in Koreans. (PubMed id 19172513) 3 Seong M.W....Park S.S. (2009) Exclusion of LCA5 locus in a consanguineous Turkish family with macular coloboma-type LCA. (PubMed id 16082399) 3 Ozgul R.K....Ogus A. (2006) Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus. (PubMed id 12642313) 3 Mohamed M.D....Inglehearn C.F. (2003) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932) 3 Strausberg R.L....Marra M.A. (2002)
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-- Services for LCA5 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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