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    ILDR1 immunoglobulin like domain containing receptor 1 [ Homo sapiens (human) ]

    Gene ID: 286676, updated on 15-Jun-2019

    Summary

    Official Symbol
    ILDR1provided by HGNC
    Official Full Name
    immunoglobulin like domain containing receptor 1provided by HGNC
    Primary source
    HGNC:HGNC:28741
    See related
    Ensembl:ENSG00000145103 MIM:609739
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DFNB42; ILDR1beta; ILDR1alpha; ILDR1alpha'
    Summary
    This gene encodes a protein that contains an immunoglobulin-like domain. The encoded protein may function as a multimeric receptor at the cell surface. The expression of this gene may be a diagnostic marker for cancer progression. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
    Expression
    Broad expression in colon (RPKM 3.8), prostate (RPKM 3.2) and 17 other tissues See more
    Orthologs

    Genomic context

    See ILDR1 in Genome Data Viewer
    Location:
    3q13.33
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (121987323..122060554, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (121706170..121741127, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ELL associated factor 2 Neighboring gene solute carrier family 15 member 2 Neighboring gene uncharacterized LOC101927010 Neighboring gene Sharpr-MPRA regulatory region 6303 Neighboring gene CD86 molecule Neighboring gene calcium sensing receptor Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 23

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Deafness, autosomal recessive 42
    MedGen: C1864818 OMIM: 609646 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.
    NHGRI GWA Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of immunoglobulin-like domain containing receptor 1 (ILDR1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC50831

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    high-density lipoprotein particle receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    identical protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular response to leukemia inhibitory factor IEA
    Inferred from Electronic Annotation
    more info
     
    endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of peptide hormone secretion IEA
    Inferred from Electronic Annotation
    more info
     
    protein homooligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    tricellular tight junction IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    immunoglobulin-like domain-containing receptor 1
    Names
    immunoglobulin-like domain-containing receptor 1 alpha
    immunoglobulin-like domain-containing receptor 1 beta

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_031870.2 RefSeqGene

      Range
      43308..78232
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001199799.2NP_001186728.1  immunoglobulin-like domain-containing receptor 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001186728.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK129974, AY672837, BC044240
      Consensus CDS
      CCDS56271.1
      UniProtKB/Swiss-Prot
      Q86SU0
      Related
      ENSP00000345667.5, ENST00000344209.10
      Conserved Domains (1) summary
      cl11960
      Location:39166
      Ig; Immunoglobulin domain
    2. NM_001199800.2NP_001186729.1  immunoglobulin-like domain-containing receptor 1 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001186729.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks multiple exons in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AC080098, AK129974, AY672839, BC044240
      Consensus CDS
      CCDS56270.1
      UniProtKB/Swiss-Prot
      Q86SU0
      Related
      ENSP00000377251.1, ENST00000393631.5
    3. NM_175924.4NP_787120.1  immunoglobulin-like domain-containing receptor 1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_787120.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC080098, AK129974, BC044240
      Consensus CDS
      CCDS3008.1
      UniProtKB/Swiss-Prot
      Q86SU0
      Related
      ENSP00000273691.3, ENST00000273691.7
      Conserved Domains (1) summary
      cl11960
      Location:39166
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      121987323..122060554 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011512739.2XP_011511041.1  immunoglobulin-like domain-containing receptor 1 isoform X3

    2. XM_011512738.2XP_011511040.1  immunoglobulin-like domain-containing receptor 1 isoform X1

      Conserved Domains (1) summary
      cl11960
      Location:39166
      Ig; Immunoglobulin domain
    3. XM_005247389.4XP_005247446.1  immunoglobulin-like domain-containing receptor 1 isoform X2

      See identical proteins and their annotated locations for XP_005247446.1

      UniProtKB/Swiss-Prot
      Q86SU0
      Conserved Domains (1) summary
      PHA03307
      Location:307511
      PHA03307; transcriptional regulator ICP4; Provisional
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