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Aliases for ILDR1 Gene

Aliases for ILDR1 Gene

  • Immunoglobulin-Like Domain Containing Receptor 1 2 3
  • DFNB42 3 6
  • Immunoglobulin-Like Domain-Containing Receptor 1 Alpha 3
  • Immunoglobulin-Like Domain-Containing Receptor 1 Beta 3
  • Immunoglobulin-Like Domain-Containing Receptor 1 3
  • Deafness, Autosomal Recessive 42 2
  • ILDR1alpha 3
  • ILDR1beta 3

External Ids for ILDR1 Gene

Previous HGNC Symbols for ILDR1 Gene

  • DFNB42

Previous GeneCards Identifiers for ILDR1 Gene

  • GC03M123188
  • GC03M121706
  • GC03M119079

Summaries for ILDR1 Gene

Entrez Gene Summary for ILDR1 Gene

  • 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]

GeneCards Summary for ILDR1 Gene

ILDR1 (Immunoglobulin-Like Domain Containing Receptor 1) is a Protein Coding gene. Diseases associated with ILDR1 include deafness, autosomal recessive 42 and autosomal recessive non-syndromic sensorineural deafness type dfnb. An important paralog of this gene is ILDR2.

UniProtKB/Swiss-Prot for ILDR1 Gene

  • Putative membrane receptor

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ILDR1 Gene

Genomics for ILDR1 Gene

Regulatory Elements for ILDR1 Gene

Genomic Location for ILDR1 Gene

Start:
121,987,323 bp from pter
End:
122,022,280 bp from pter
Size:
34,958 bases
Orientation:
Minus strand

Genomic View for ILDR1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ILDR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ILDR1 Gene

Proteins for ILDR1 Gene

  • Protein details for ILDR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86SU0-ILDR1_HUMAN
    Recommended name:
    Immunoglobulin-like domain-containing receptor 1
    Protein Accession:
    Q86SU0
    Secondary Accessions:
    • Q6ZP61
    • Q7Z578

    Protein attributes for ILDR1 Gene

    Size:
    546 amino acids
    Molecular mass:
    62815 Da
    Quaternary structure:
    • Homooligomer.

    Alternative splice isoforms for ILDR1 Gene

neXtProt entry for ILDR1 Gene

Proteomics data for ILDR1 Gene at MOPED

Post-translational modifications for ILDR1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ILDR1 Gene

No data available for DME Specific Peptides for ILDR1 Gene

Domains for ILDR1 Gene

Protein Domains for ILDR1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ILDR1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86SU0

UniProtKB/Swiss-Prot:

ILDR1_HUMAN :
  • Q86SU0
Domain:
  • Contains 1 Ig-like V-type (immunoglobulin-like) domain.
Family:
  • Belongs to the immunoglobulin superfamily. LISCH7 family.
genes like me logo Genes that share domains with ILDR1: view

No data available for Gene Families for ILDR1 Gene

Function for ILDR1 Gene

Molecular function for ILDR1 Gene

UniProtKB/Swiss-Prot Function: Putative membrane receptor

Gene Ontology (GO) - Molecular Function for ILDR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070506 high-density lipoprotein particle receptor activity IEA --
genes like me logo Genes that share ontologies with ILDR1: view
genes like me logo Genes that share phenotypes with ILDR1: view

Animal Models for ILDR1 Gene

MGI Knock Outs for ILDR1:

Animal Model Products

CRISPR Products

miRNA for ILDR1 Gene

miRTarBase miRNAs that target ILDR1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for ILDR1 Gene

Localization for ILDR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ILDR1 Gene

Cell membrane; Single-pass type I membrane protein.
Isoform 5: Cytoplasm, cytosol.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ILDR1 Gene COMPARTMENTS Subcellular localization image for ILDR1 gene
Compartment Confidence
cytosol 5
plasma membrane 5
golgi apparatus 2
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for ILDR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ILDR1: view

Pathways for ILDR1 Gene

SuperPathways for ILDR1 Gene

No Data Available

Interacting Proteins for ILDR1 Gene

Gene Ontology (GO) - Biological Process for ILDR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006898 receptor-mediated endocytosis IEA --
GO:0090277 positive regulation of peptide hormone secretion IEA --
genes like me logo Genes that share ontologies with ILDR1: view

No data available for Pathways by source for ILDR1 Gene

Transcripts for ILDR1 Gene

Unigene Clusters for ILDR1 Gene

Immunoglobulin-like domain containing receptor 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ILDR1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ILDR1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c
SP1: -
SP2: - -
SP3: - -
SP4: -
SP5: - - -

Relevant External Links for ILDR1 Gene

GeneLoc Exon Structure for
ILDR1
ECgene alternative splicing isoforms for
ILDR1

Expression for ILDR1 Gene

mRNA expression in normal human tissues for ILDR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ILDR1 Gene

This gene is overexpressed in Colon - Transverse (5.8), Pancreas (4.6), and Kidney - Cortex (4.3).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for ILDR1 Gene

SOURCE GeneReport for Unigene cluster for ILDR1 Gene Hs.98484

mRNA Expression by UniProt/SwissProt for ILDR1 Gene

Q86SU0-ILDR1_HUMAN
Tissue specificity: Mainly expressed in prostate and to a lower extent in testis, pancreas, kidney, heart and liver.
genes like me logo Genes that share expressions with ILDR1: view

In Situ Assay Products

Orthologs for ILDR1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ILDR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ILDR1 35
  • 99.57 (n)
  • 99.63 (a)
ILDR1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ILDR1 35
  • 87.22 (n)
  • 84.26 (a)
ILDR1 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ILDR1 35
  • 82.86 (n)
  • 79.92 (a)
ILDR1 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ildr1 35
  • 83.78 (n)
  • 82.13 (a)
Ildr1 16
Ildr1 36
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ILDR1 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ILDR1 36
  • 48 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ildr1 35
  • 83.81 (n)
  • 83.49 (a)
chicken
(Gallus gallus)
Aves ILDR1 35
  • 63.66 (n)
  • 59.5 (a)
ILDR1 36
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ILDR1 36
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486057 35
  • 61.94 (n)
  • 60.39 (a)
zebrafish
(Danio rerio)
Actinopterygii ildr1a 35
  • 64.5 (n)
  • 59.59 (a)
ildr1a 36
  • 41 (a)
OneToMany
ildr1b 36
  • 37 (a)
OneToMany
zgc64227 35
Species with no ortholog for ILDR1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ILDR1 Gene

ENSEMBL:
Gene Tree for ILDR1 (if available)
TreeFam:
Gene Tree for ILDR1 (if available)

Paralogs for ILDR1 Gene

Paralogs for ILDR1 Gene

genes like me logo Genes that share paralogs with ILDR1: view

Variants for ILDR1 Gene

Sequence variations from dbSNP and Humsavar for ILDR1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs1523517 -- 122,008,144(+) GCAGT(C/G)AGCAT intron-variant, upstream-variant-2KB
rs1806655 -- 121,997,393(-) GGTCA(A/G)TTGCC intron-variant
rs1806656 -- 121,997,324(-) AAAGG(C/G)GCATC intron-variant
rs1986368 -- 121,992,122(+) CTGTC(A/T)TTTGG intron-variant
rs1986712 -- 121,992,139(+) TAATT(A/G/T)TAAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ILDR1 Gene

Variant ID Type Subtype PubMed ID
esv33139 CNV Loss 17666407
nsv237246 CNV Loss 16902084

Relevant External Links for ILDR1 Gene

HapMap Linkage Disequilibrium report
ILDR1
Human Gene Mutation Database (HGMD)
ILDR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ILDR1 Gene

Disorders for ILDR1 Gene

(1) OMIM Diseases for ILDR1 Gene (609739)

UniProtKB/Swiss-Prot

ILDR1_HUMAN
  • Deafness, autosomal recessive, 42 (DFNB42) [MIM:609646]: A prelingual, non-progressive form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:21255762}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for ILDR1 Gene

Relevant External Links for ILDR1

Genetic Association Database (GAD)
ILDR1
Human Genome Epidemiology (HuGE) Navigator
ILDR1
genes like me logo Genes that share disorders with ILDR1: view

Publications for ILDR1 Gene

  1. Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. (PMID: 21255762) Borck G. … Kubisch C. (Am. J. Hum. Genet. 2011) 2 3 4
  2. Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. (PMID: 22190364) Patsopoulos N.A. … de Bakker P.I. (Ann. Neurol. 2011) 3 48
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. Characterization of a novel immunoglobulin-like domain containing receptor. (PMID: 15381095) Hauge H. … Aasheim H.-C. (Biochem. Biophys. Res. Commun. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for ILDR1 Gene

Sources for ILDR1 Gene

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