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LCA5 lebercilin LCA5 [ Homo sapiens (human) ]

Gene ID: 167691, updated on 22-Aug-2020

Summary

Official Symbol
LCA5provided by HGNC
Official Full Name
lebercilin LCA5provided by HGNC
Primary source
HGNC:HGNC:31923
See related
Ensembl:ENSG00000135338 MIM:611408
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]
Expression
Broad expression in testis (RPKM 5.0), thyroid (RPKM 4.0) and 25 other tissues See more
Orthologs

Genomic context

See LCA5 in Genome Data Viewer
Location:
6q14.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 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 LOC105377867 Neighboring gene DBI pseudogene 1 Neighboring gene uncharacterized LOC112267857 Neighboring gene SH3 domain binding glutamate rich protein like 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study of antiphospholipid antibodies.
GeneReviews: Not available
Genome-wide association study of hoarding traits.
GeneReviews: Not available
Leber congenital amaurosis 5 Compare labs

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
intraciliary transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
photoreceptor cell maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
axoneme IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ciliary basal body ISS
Inferred from Sequence or Structural Similarity
more info
 
cilium IDA
Inferred from Direct Assay
more info
PubMed 
photoreceptor connecting cilium IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
lebercilin
Names
LCA5, lebercilin
epididymis secretory sperm binding protein
leber congenital amaurosis 5 protein

NCBI Reference Sequences (RefSeq)

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 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001122769.3NP_001116241.1  lebercilin

    See identical proteins and their annotated locations for 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
    ENSP00000358861.4, ENST00000369846.9
    Conserved Domains (2) summary
    pfam15619
    Location:107286
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    cl26511
    Location:90482
    Neuromodulin_N; Gap junction protein N-terminal region
  2. NM_181714.4NP_859065.2  lebercilin

    See identical proteins and their annotated locations for 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
    ENSP00000376686.1, ENST00000392959.5
    Conserved Domains (2) summary
    pfam15619
    Location:107286
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    cl26511
    Location:90482
    Neuromodulin_N; Gap junction protein N-terminal region

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005248665.4XP_005248722.1  lebercilin isoform X1

    See identical proteins and their annotated locations for XP_005248722.1

    UniProtKB/Swiss-Prot
    Q86VQ0
    Conserved Domains (2) summary
    pfam15619
    Location:107286
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    cl26511
    Location:90482
    Neuromodulin_N; Gap junction protein N-terminal region
  2. XM_011535504.1XP_011533806.1  lebercilin isoform X1

    See identical proteins and their annotated locations for XP_011533806.1

    UniProtKB/Swiss-Prot
    Q86VQ0
    Conserved Domains (2) summary
    pfam15619
    Location:107286
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    cl26511
    Location:90482
    Neuromodulin_N; Gap junction protein N-terminal region
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