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

Gene ID: 286676, updated on 13-Feb-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 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
 
positive regulation of peptide hormone secretion IEA
Inferred from Electronic Annotation
more info
 
protein homooligomerization IDA
Inferred from Direct Assay
more info
PubMed 
receptor-mediated endocytosis IEA
Inferred from Electronic Annotation
more info
 
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_031870.1 RefSeqGene

    Range
    5001..39958
    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
    ENSP00000419414.2, ENST00000462014.2
    Conserved Domains (1) summary
    cl11960
    Location:39166
    Ig; Immunoglobulin domain
  2. NM_001199800.1NP_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_175924.3NP_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.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 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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