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    Lrit3 leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 [ Mus musculus (house mouse) ]

    Gene ID: 242235, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Lrit3provided by MGI
    Official Full Name
    leucine-rich repeat, immunoglobulin-like and transmembrane domains 3provided by MGI
    Primary source
    MGI:MGI:2685267
    See related
    Ensembl:ENSMUSG00000093865 AllianceGenome:MGI:2685267
    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
    Gm421
    Summary
    Acts upstream of or within several processes, including synapse assembly involved in innervation; synaptic signaling; and visual perception. Is active in cell tip and dendrite. Used to study congenital stationary night blindness 1F. Human ortholog(s) of this gene implicated in congenital stationary night blindness 1F. Orthologous to human LRIT3 (leucine rich repeat, Ig-like and transmembrane domains 3). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    human all
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    Genomic context

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    See Lrit3 in Genome Data Viewer
    Location:
    3 G3; 3 58.99 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (129577590..129597785, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (129783941..129804136, complement)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E827 Neighboring gene STARR-seq mESC enhancer starr_08971 Neighboring gene STARR-seq mESC enhancer starr_08975 Neighboring gene STARR-seq mESC enhancer starr_08976 Neighboring gene predicted gene, 35986 Neighboring gene CapStarr-seq enhancer MGSCv37_chr3:129256142-129256329 Neighboring gene ELOVL fatty acid elongase 6 Neighboring gene STARR-seq mESC enhancer starr_08981 Neighboring gene epidermal growth factor Neighboring gene STARR-positive B cell enhancer ABC_E6124 Neighboring gene RIKEN cDNA 6330410L21 gene Neighboring gene predicted gene, 36130 Neighboring gene STARR-positive B cell enhancer ABC_E7942 Neighboring gene retinal pigment epithelium derived rhodopsin homolog Neighboring gene GAR1 ribonucleoprotein Neighboring gene predicted gene, 36180 Neighboring gene complement component factor i

    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. Presynaptic Expression of LRIT3 Transsynaptically Organizes the Postsynaptic Glutamate Signaling Complex Containing TRPM1. Hasan N, et al. Cell Rep, 2019 Jun 11. PMID 31189098, Free PMC Article
    2. LRIT3 Differentially Affects Connectivity and Synaptic Transmission of Cones to ON- and OFF-Bipolar Cells. Neuillé M, et al. Invest Ophthalmol Vis Sci, 2017 Mar 1. PMID 28334377, Free PMC Article
    3. Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB). Neuillé M, et al. PLoS One, 2014. PMID 24598786, Free PMC Article
    4. A Chemical Mutagenesis Screen Identifies Mouse Models with ERG Defects. Charette JR, et al. Adv Exp Med Biol, 2016. PMID 26427409, Free PMC Article
    5. Leucine-rich repeat, immunoglobulin-like and transmembrane domain 3 (LRIT3) is a modulator of FGFR1. Kim SD, et al. FEBS Lett, 2012 May 21. PMID 22673519, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. LRIT3 is Required for Nyctalopin Expression and Normal ON and OFF Pathway Signaling in the Retina.
      Title: LRIT3 is Required for Nyctalopin Expression and Normal ON and OFF Pathway Signaling in the Retina.
    2. LRIT3 is expressed in rod photoreceptors and acts transsynaptically to localize the TRPM1 channel in the postsynaptic membrane.
      Title: Presynaptic Expression of LRIT3 Transsynaptically Organizes the Postsynaptic Glutamate Signaling Complex Containing TRPM1.
    3. This study confirmed the localization of LRIT3 at the dendritic tips of depolarizing bipolar cells in mouse retina and demonstrated the dependence of TRPM1 localization on the presence of LRIT3.
      Title: LRIT3 is essential to localize TRPM1 to the dendritic tips of depolarizing bipolar cells and may play a role in cone synapse formation.
    4. The stationary no b-wave phenotype of mice lacking Lrit3, which we named nob6, confirms the findings previously reported in patients carrying LRIT3 mutations.
      Title: Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB).
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    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
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein localization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of fibroblast growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of fibroblast growth factor receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within response to light stimulus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within synapse assembly involved in innervation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within synaptic signaling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within visual perception IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cell tip IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    is_active_in dendrite IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in perikaryon IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3

    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_001287224.2 → NP_001274153.1  leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3 precursor

      See identical proteins and their annotated locations for NP_001274153.1

      Status: VALIDATED

      Source sequence(s)
      AC111097
      Consensus CDS
      CCDS57256.2
      UniProtKB/Swiss-Prot
      W8DXL4
      UniProtKB/TrEMBL
      J3QNQ8
      Related
      ENSMUSP00000140184.2, ENSMUST00000185462.7
      Conserved Domains (6) summary
      smart00410
      Location:263 → 339
      IG_like; Immunoglobulin like
      cd00063
      Location:489 → 563
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      sd00031
      Location:83 → 106
      LRR_1; leucine-rich repeat [structural motif]
      pfam12799
      Location:129 → 170
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:105 → 165
      LRR_8; Leucine rich repeat
      cl11960
      Location:254 → 335
      Ig; Immunoglobulin domain

    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_000069.7 Reference GRCm39 C57BL/6J

      Range
      129577590..129597785 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001205102.1: Suppressed sequence

      Description
      NM_001205102.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    W8DXL4.1 GenPept UniProtKB/Swiss-Prot:W8DXL4

    Gene LinkOut

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

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