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LCA5 Leber congenital amaurosis 5 [ Homo sapiens (human) ]

Gene ID: 167691, updated on 11-Sep-2014
Official Symbol
LCA5provided by HGNC
Official Full Name
Leber congenital amaurosis 5provided by HGNC
Primary source
HGNC:HGNC:31923
See related
Ensembl:ENSG00000135338; HPRD:10791; MIM:611408; Vega:OTTHUMG00000015080
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C6orf152
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]
See LCA5 in Epigenomics, MapViewer
Location:
6q14.1
Exon count:
10
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 6 NC_000006.12 (79484991..79537430, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (80194708..80247147, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100506851 Neighboring gene uncharacterized LOC102724109 Neighboring gene diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein) pseudogene 1 Neighboring gene SH3 domain binding glutamate-rich protein like 2 Neighboring gene chromosome 6 open reading frame 7 Neighboring gene cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Leber congenital amaurosis 5
MedGen: C1858301 OMIM: 604537 GeneReviews: Leber Congenital Amaurosis
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NHGRI GWAS Catalog

Description
Genome-wide association study of antiphospholipid antibodies.
NHGRI GWA Catalog
Genome-wide association study of hoarding traits.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein complex binding IDA
Inferred from Direct Assay
more info
 
Process Evidence Code Pubs
intraciliary transport IEA
Inferred from Electronic Annotation
more info
 
photoreceptor cell maintenance IEA
Inferred from Electronic Annotation
more info
 
protein transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cilium IDA
Inferred from Direct Assay
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
microtubule organizing center IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
Lebercilin
Names
Lebercilin
leber congenital amaurosis 5 protein

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016011.1 

    Range
    5001..57440
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001122769.2NP_001116241.1  Lebercilin

    See proteins identical to NP_001116241.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AL832214, BC050327, BE883302, BX648161
    Consensus CDS
    CCDS4990.1
    UniProtKB/Swiss-Prot
    Q86VQ0
    Related
    ENSP00000358861, OTTHUMP00000016774, ENST00000369846, OTTHUMT00000041308
    Conserved Domains (2) summary
    pfam15619
    Location:99292
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    cl14813
    Location:149267
    GluZincin; Peptidase Gluzincin family (thermolysin-like proteinases, TLPs) includes peptidases M1, M2, M3, M4, M13, M32 and M36 (fungalysins)
  2. NM_181714.3NP_859065.2  Lebercilin

    See proteins identical to NP_859065.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AL832214, BC050327, BE883302, BX648161
    Consensus CDS
    CCDS4990.1
    UniProtKB/Swiss-Prot
    Q86VQ0
    Related
    ENSP00000376686, OTTHUMP00000165989, ENST00000392959, OTTHUMT00000259269
    Conserved Domains (2) summary
    pfam15619
    Location:99292
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    cl14813
    Location:149267
    GluZincin; Peptidase Gluzincin family (thermolysin-like proteinases, TLPs) includes peptidases M1, M2, M3, M4, M13, M32 and M36 (fungalysins)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000006.12 

    Range
    79484991..79537430
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248665.2XP_005248722.1  

    See proteins identical to XP_005248722.1

    UniProtKB/Swiss-Prot
    Q86VQ0
    Conserved Domains (2) summary
    pfam15619
    Location:99292
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    cl14813
    Location:149267
    GluZincin; Peptidase Gluzincin family (thermolysin-like proteinases, TLPs) includes peptidases M1, M2, M3, M4, M13, M32 and M36 (fungalysins)

Alternate HuRef

Genomic

  1. AC_000138.1 

    Range
    77415318..77467734
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 

    Range
    80292226..80344664
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)