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Lca5l Leber congenital amaurosis 5-like [ Mus musculus (house mouse) ]

Gene ID: 385668, updated on 2-Nov-2024

Summary

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Official Symbol
Lca5lprovided by MGI
Official Full Name
Leber congenital amaurosis 5-likeprovided by MGI
Primary source
MGI:MGI:3041157
See related
Ensembl:ENSMUSG00000045275 AllianceGenome:MGI:3041157
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Lcca5l; 4921526F01Rik
Summary
Predicted to be involved in intraciliary transport. Predicted to be active in axoneme. Orthologous to human LCA5L (lebercilin LCA5 like). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in testis adult (RPKM 14.3) and ovary adult (RPKM 0.8) See more
Orthologs
human all
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Genomic context

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See Lca5l in Genome Data Viewer
Location:
16 C4; 16 56.84 cM
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (95959605..95993450, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (96158406..96192257, complement)

Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer mm9_chr16:96349246-96349547 Neighboring gene high mobility group nucleosomal binding domain 1 Neighboring gene guided entry of tail-anchored proteins factor 1 Neighboring gene predicted gene, 53923 Neighboring gene STARR-positive B cell enhancer ABC_E7483 Neighboring gene SH3-binding domain glutamic acid-rich protein Neighboring gene STARR-seq mESC enhancer starr_41616 Neighboring gene UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 Neighboring gene CapStarr-seq enhancer MGSCv37_chr16:96495129-96495238 Neighboring gene CapStarr-seq enhancer MGSCv37_chr16:96514185-96514338

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. USP7 represses lineage differentiation genes in mouse embryonic stem cells by both catalytic and noncatalytic activities. Liu C, et al. Sci Adv, 2023 May 19. PMID 37196079, Free PMC Article
  2. Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Hansen GM, et al. Genome Res, 2008 Oct. PMID 18799693, Free PMC Article
  3. Genetic determinants of micronucleus formation in vivo. Adams DJ, et al. Nature, 2024 Mar. PMID 38355793, Free PMC Article
  4. A high-resolution anatomical atlas of the transcriptome in the mouse embryo. Diez-Roux G, et al. PLoS Biol, 2011 Jan 18. PMID 21267068, Free PMC Article
  5. Antisense transcription in the mammalian transcriptome. Katayama S, et al. Science, 2005 Sep 2. PMID 16141073

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in intraciliary transport IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in axoneme IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
lebercilin-like protein
Names
leber congenital amaurosis 5-like protein

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001001492.3 → NP_001001492.2  lebercilin-like protein isoform 1

    See identical proteins and their annotated locations for NP_001001492.2

    Status: VALIDATED

    Source sequence(s)
    AC164647
    Consensus CDS
    CCDS37413.1
    UniProtKB/Swiss-Prot
    A0A5H1ZRK7, B9EJ20, D3YXG9, E9QN53, Q8C0X0
    UniProtKB/TrEMBL
    A0A3B2W433
    Related
    ENSMUSP00000061337.8, ENSMUST00000054855.14
    Conserved Domains (2) summary
    pfam15619
    Location:151 → 330
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    cl23720
    Location:209 → 336
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

  2. NM_001408389.1 → NP_001395318.1  lebercilin-like protein isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC164647
    Related
    ENSMUSP00000156726.2, ENSMUST00000233151.2

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000082.7 Reference GRCm39 C57BL/6J

    Range
    95959605..95993450 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006523062.4 → XP_006523125.1  lebercilin-like protein isoform X2

    See identical proteins and their annotated locations for XP_006523125.1

    UniProtKB/TrEMBL
    A0A3B2W433, A0A5H1ZRL0
    Related
    ENSMUSP00000109435.2, ENSMUST00000113804.8
    Conserved Domains (1) summary
    pfam15619
    Location:146 → 331
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

  2. XM_036159999.1 → XP_036015892.1  lebercilin-like protein isoform X3

    Conserved Domains (1) summary
    pfam15619
    Location:151 → 284
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

RNA

  1. XR_004939198.1 RNA Sequence

  2. XR_004939199.1 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8C0X0.3 GenPept UniProtKB/Swiss-Prot:Q8C0X0

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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