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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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