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

Summary

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, Nov 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

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_000082.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ildr1 gene deletion protects against diet-induced obesity and hyperglycemia.
Title: Ildr1 gene deletion protects against diet-induced obesity and hyperglycemia.
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.
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.
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.
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.
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.

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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

AU044638 (e-PCR)
- UniSTS:160565

AU041483 (e-PCR)
- UniSTS:180904

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)

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
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
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