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    Ildr1 immunoglobulin-like domain containing receptor 1 [ Mus musculus (house mouse) ]

    Gene ID: 106347, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Ildr1provided by MGI
    Official Full Name
    immunoglobulin-like domain containing receptor 1provided by MGI
    Primary source
    MGI:MGI:2146574
    See related
    Ensembl:ENSMUSG00000022900 AllianceGenome:MGI:2146574
    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
    Summary
    Enables high-density lipoprotein particle receptor activity. Involved in several processes, including epithelial structure maintenance; protein localization to tricellular tight junction; and tricellular tight junction assembly. Acts upstream of or within cellular response to leukemia inhibitory factor and positive regulation of peptide hormone secretion. Located in plasma membrane and tricellular tight junction. Is expressed in olfactory epithelium. Used to study autosomal recessive nonsyndromic deafness 42. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 42. Orthologous to human ILDR1 (immunoglobulin like domain containing receptor 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in colon adult (RPKM 74.5), bladder adult (RPKM 14.3) and 5 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Ildr1 in Genome Data Viewer
    Location:
    16 B3; 16 25.88 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (36514340..36547166)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (36693978..36726804)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene CD86 antigen Neighboring gene predicted gene, 49663 Neighboring gene STARR-seq mESC enhancer starr_40769 Neighboring gene predicted gene, 41451 Neighboring gene STARR-seq mESC enhancer starr_40772 Neighboring gene STARR-positive B cell enhancer mm9_chr16:36711953-36712254 Neighboring gene STARR-seq mESC enhancer starr_40773 Neighboring gene RNA guanylyltransferase and 5'-phosphatase pseudogene Neighboring gene solute carrier family 15 (H+/peptide transporter), member 2 Neighboring gene STARR-seq mESC enhancer starr_40774 Neighboring gene 60S ribosomal protein L7a pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Ildr1 gene deletion protects against diet-induced obesity and hyperglycemia. Chandra R, et al. PLoS One, 2022. PMID 35749484, Free PMC Article
    2. ILDR1 deficiency causes degeneration of cochlear outer hair cells and disrupts the structure of the organ of Corti: a mouse model for human DFNB42. Sang Q, et al. Biol Open, 2015 Mar 27. PMID 25819842, Free PMC Article
    3. Angulin-2/ILDR1, a tricellular tight junction protein, does not affect water transport in the mouse large intestine. Hempstock W, et al. Sci Rep, 2020 Jun 25. PMID 32587380, Free PMC Article
    4. ILDR1 is important for paracellular water transport and urine concentration mechanism. Gong Y, et al. Proc Natl Acad Sci U S A, 2017 May 16. PMID 28461473, Free PMC Article
    5. ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells. Morozko EL, et al. Hum Mol Genet, 2015 Feb 1. PMID 25217574, Free PMC Article

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Ildr1 gene deletion protects against diet-induced obesity and hyperglycemia.
      Title: Ildr1 gene deletion protects against diet-induced obesity and hyperglycemia.
    2. In cultured renal epithelial cells normally lacking the expression of Ildr1, overexpression of Ildr1 significantly reduces the paracellular water permeability. Together, study provides a mechanism of how cells transport water.
      Title: ILDR1 is important for paracellular water transport and urine concentration mechanism.
    3. The angulin-2/ILDR1 deficiency causes the postnatal degenerative loss of hair cells in the cochlea.
      Title: Deficiency of angulin-2/ILDR1, a tricellular tight junction-associated membrane protein, causes deafness with cochlear hair cell degeneration in mice.
    4. Study consolidate the importance of ILDR1 as a tight junction protein necessary for cochlear hair cells survival, and the integrity of the auditory system.
      Title: ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells.
    5. The findings show the heterogeneity of the molecular organization of tTJs in terms of the content of LSR, ILDR1 or ILDR2, and suggest that ILDR1-mediated recruitment of tricellulin to TCs is required for hearing.
      Title: Analysis of the 'angulin' proteins LSR, ILDR1 and ILDR2--tricellulin recruitment, epithelial barrier function and implication in deafness pathogenesis.
    6. ILDR1 regulates CCK release through a mechanism dependent on fatty acids and lipoproteins.
      Title: Immunoglobulin-like domain containing receptor 1 mediates fat-stimulated cholecystokinin secretion.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Gene trapped (1) 
    • Targeted (3)  1 citation

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables high-density lipoprotein particle receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables high-density lipoprotein particle receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within cellular response to leukemia inhibitory factor IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in epithelial structure maintenance IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of establishment of localization in cell IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of peptide hormone secretion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of peptide hormone secretion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein localization to tricellular tight junction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of RNA splicing IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in response to fatty acid IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in tricellular tight junction assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in vesicle-mediated transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in bicellular tight junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of protein-containing complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in tight junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in tight junction ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in tricellular tight junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in tricellular tight junction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    immunoglobulin-like domain-containing receptor 1
    Names
    angulin-2

    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_001285788.1 → NP_001272717.1  immunoglobulin-like domain-containing receptor 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001272717.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC117662, AK136284
      Consensus CDS
      CCDS70718.1
      UniProtKB/Swiss-Prot
      Q6PFB3, Q8CB39, Q8CBR1, Q91VS0
      Related
      ENSMUSP00000023617.7, ENSMUST00000023617.13
      Conserved Domains (1) summary
      cl11960
      Location:38 → 165
      Ig; Immunoglobulin domain

    2. NM_001285791.1 → NP_001272720.1  immunoglobulin-like domain-containing receptor 1 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001272720.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the 3' coding region compared to variant 1. Theencoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AC117662
      Consensus CDS
      CCDS70719.1
      UniProtKB/Swiss-Prot
      Q8CBR1
      Related
      ENSMUSP00000087045.4, ENSMUST00000089618.10
      Conserved Domains (1) summary
      cl11960
      Location:38 → 165
      Ig; Immunoglobulin domain

    3. NM_134109.2 → NP_598870.1  immunoglobulin-like domain-containing receptor 1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_598870.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC117662, AK036844, AK136284
      Consensus CDS
      CCDS49841.1
      UniProtKB/Swiss-Prot
      Q8CBR1
      Related
      ENSMUSP00000112539.2, ENSMUST00000119464.2
      Conserved Domains (1) summary
      cl11960
      Location:38 → 165
      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_000082.7 Reference GRCm39 C57BL/6J

      Range
      36514340..36547166
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006521674.5 → XP_006521737.1  immunoglobulin-like domain-containing receptor 1 isoform X1

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8CBR1.2 GenPept UniProtKB/Swiss-Prot:Q8CBR1

    Gene LinkOut

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

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