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
ID:ILDR1_HUMAN 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
Behcet Syndrome Elaine F Remmers et al. Nature genetics 2010, , Nature genetics.
Multiple Sclerosis Nikolaos A Patsopoulos et al. Annals of neurology 2011, Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci., Annals of neurology.
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.
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.
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.