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

Gene ID: 106347, updated on 21-Apr-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. 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, Apr 2022]
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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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

Expression

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  • Project title: 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. Ildr1 gene deletion protects against diet-induced obesity and hyperglycemia. Chandra R, et al. PLoS One, 2022. PMID 35749484, Free PMC Article
  2. 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
  3. 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
  4. 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
  5. Deficiency of angulin-2/ILDR1, a tricellular tight junction-associated membrane protein, causes deafness with cochlear hair cell degeneration in mice. Higashi T, et al. PLoS One, 2015. PMID 25822906, Free PMC Article

See all (29) 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)
  • Gene trapped (1) 
  • Targeted (3)  1 citation
  • Endonuclease-mediated (2) 

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 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 
Component Evidence Code Pubs
located_in anchoring junction IEA
Inferred from Electronic Annotation
more info
  
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 membrane IEA
Inferred from Electronic Annotation
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 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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