Human Gene ILDR1 (uc003ees.3) Description and Page Index
  Description: Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.
RefSeq Summary (NM_001199799): 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].
Transcript (Including UTRs)
   Position: hg19 chr3:121,706,170-121,741,127 Size: 34,958 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr3:121,707,214-121,740,924 Size: 33,711 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr3:121,706,170-121,741,127)mRNA (may differ from genome)Protein (546 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
OMIMPubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Immunoglobulin-like domain-containing receptor 1; Flags: Precursor;
FUNCTION: Putative membrane receptor.
SUBUNIT: Homooligomer.
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
SUBCELLULAR LOCATION: Isoform 5: Cytoplasm, cytosol.
TISSUE SPECIFICITY: Mainly expressed in prostate and to a lower extent in testis, pancreas, kidney, heart and liver.
DISEASE: Defects in ILDR1 are the cause of deafness autosomal recessive type 42 (DFNB42) [MIM:609646]; also called non-syndromic sensorineural deafness autosomal recessive type 42. DFNB42 is 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.
SIMILARITY: Belongs to the immunoglobulin superfamily. LISCH7 family.
SIMILARITY: Contains 1 Ig-like V-type (immunoglobulin-like) domain.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ILDR1
CDC HuGE Published Literature: ILDR1
Positive Disease Associations: Behcet Syndrome , Multiple Sclerosis
Related Studies:
  1. Behcet Syndrome
    Elaine F Remmers et al. Nature genetics 2010, , Nature genetics. [PubMed 20622878]
  2. Multiple Sclerosis
    Nikolaos A Patsopoulos et al. Annals of neurology 2011, Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci., Annals of neurology. [PubMed 22190364]
    We have performed a meta-analysis of GWAS in MS that more than doubles the size of previous gene discovery efforts and highlights 3 novel MS susceptibility loci. These and additional loci with suggestive evidence of association are excellent candidates for further investigations to refine and validate their role in the genetic architecture of MS.

-  MalaCards Disease Associations
  MalaCards Gene Search: ILDR1
Diseases sorted by gene-association score: deafness, autosomal recessive 42* (1249), dfnb42 nonsyndromic hearing loss and deafness* (500), autosomal recessive non-syndromic sensorineural deafness type dfnb* (49), deafness, autosomal recessive 49 (13), deafness, autosomal recessive (10), deafness, autosomal recessive 67 (7), auditory system disease (1), nonsyndromic deafness (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 5.63 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 36.70 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -102.00203-0.502 Picture PostScript Text
3' UTR -300.601044-0.288 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013783 - Ig-like_fold
IPR003599 - Ig_sub
IPR008664 - LISCH7

Pfam Domains:
PF05624 - Lipolysis stimulated receptor (LSR)

SCOP Domains:
48726 - Immunoglobulin

ModBase Predicted Comparative 3D Structure on Q86SU0
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
  Protein Sequence   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0042802 identical protein binding
GO:0070506 high-density lipoprotein particle receptor activity

Biological Process:
GO:0006898 receptor-mediated endocytosis
GO:0051260 protein homooligomerization
GO:0090277 positive regulation of peptide hormone secretion
GO:1990830 cellular response to leukemia inhibitory factor

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0032991 macromolecular complex
GO:0061689 tricellular tight junction

-  Descriptions from all associated GenBank mRNAs
  KJ900596 - Synthetic construct Homo sapiens clone ccsbBroadEn_09990 ILDR1 gene, encodes complete protein.
BC044240 - Homo sapiens immunoglobulin-like domain containing receptor 1, mRNA (cDNA clone MGC:50831 IMAGE:5751749), complete cds.
AK129974 - Homo sapiens cDNA FLJ26464 fis, clone KDN04209.
JD377935 - Sequence 358959 from Patent EP1572962.
JD330609 - Sequence 311633 from Patent EP1572962.
JD225211 - Sequence 206235 from Patent EP1572962.
JD268880 - Sequence 249904 from Patent EP1572962.
JD281152 - Sequence 262176 from Patent EP1572962.
JD105894 - Sequence 86918 from Patent EP1572962.
JD517580 - Sequence 498604 from Patent EP1572962.
JD363706 - Sequence 344730 from Patent EP1572962.
JD050655 - Sequence 31679 from Patent EP1572962.
JD097342 - Sequence 78366 from Patent EP1572962.
JD512460 - Sequence 493484 from Patent EP1572962.
JD182457 - Sequence 163481 from Patent EP1572962.
JD267312 - Sequence 248336 from Patent EP1572962.
JD088590 - Sequence 69614 from Patent EP1572962.
JD085930 - Sequence 66954 from Patent EP1572962.
JD534026 - Sequence 515050 from Patent EP1572962.
JD442985 - Sequence 424009 from Patent EP1572962.
JD558786 - Sequence 539810 from Patent EP1572962.
JD430962 - Sequence 411986 from Patent EP1572962.
JD402986 - Sequence 384010 from Patent EP1572962.
JD180221 - Sequence 161245 from Patent EP1572962.
JD353745 - Sequence 334769 from Patent EP1572962.
JD454978 - Sequence 436002 from Patent EP1572962.
JD276678 - Sequence 257702 from Patent EP1572962.
JD084603 - Sequence 65627 from Patent EP1572962.
JD308808 - Sequence 289832 from Patent EP1572962.
JD511716 - Sequence 492740 from Patent EP1572962.
JD286909 - Sequence 267933 from Patent EP1572962.
JD499693 - Sequence 480717 from Patent EP1572962.
JD319561 - Sequence 300585 from Patent EP1572962.
JD266188 - Sequence 247212 from Patent EP1572962.
JD512658 - Sequence 493682 from Patent EP1572962.
JD512657 - Sequence 493681 from Patent EP1572962.
JD412710 - Sequence 393734 from Patent EP1572962.
JD197759 - Sequence 178783 from Patent EP1572962.
JD212370 - Sequence 193394 from Patent EP1572962.
JD098818 - Sequence 79842 from Patent EP1572962.
JD509715 - Sequence 490739 from Patent EP1572962.
JD362647 - Sequence 343671 from Patent EP1572962.
AY672837 - Homo sapiens immunoglobulin-like domain-containing receptor 1 alpha mRNA, complete cds.
AY672839 - Homo sapiens immunoglobulin-like domain-containing receptor 1 beta mRNA, complete cds.
AY672838 - Homo sapiens immunoglobulin-like domain-containing receptor 1 alpha' mRNA, complete cds.
AY134857 - Homo sapiens unknown mRNA.
JD484912 - Sequence 465936 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ILDR1_HUMAN, NM_001199799, NP_001186728, Q6ZP61, Q7Z578, Q86SU0
UCSC ID: uc003ees.3
RefSeq Accession: NM_001199799
Protein: Q86SU0 (aka ILDR1_HUMAN)
CCDS: CCDS56271.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_001199799.1
exon count: 8CDS single in 3' UTR: no RNA size: 2908
ORF size: 1641CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3482.00frame shift in genome: no % Coverage: 99.31
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.