Version 5.4
Homo sapiens Protein: ILDR1
Summary
InnateDB Protein IDBP-52289.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ILDR1
Protein Name immunoglobulin-like domain containing receptor 1
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000345667
InnateDB Gene IDBG-52283 (ILDR1)
Protein Structure
UniProt Annotation
Function Putative membrane receptor.
Subcellular Localization Cell membrane {ECO:0000269PubMed:15381095}; Single-pass type I membrane protein {ECO:0000269PubMed:15381095}.Isoform 5: Cytoplasm, cytosol.
Disease Associations 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:0000269PubMed:21255762}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Mainly expressed in prostate and to a lower extent in testis, pancreas, kidney, heart and liver. {ECO:0000269PubMed:15381095}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0070506 high-density lipoprotein particle receptor activity
Biological Process
GO:0006898 receptor-mediated endocytosis
GO:0090277 positive regulation of peptide hormone secretion
Cellular Component
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR003599 Immunoglobulin subtype
IPR008664 LISCH7
PFAM PF05624
PRINTS
PIRSF
SMART SM00409
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q86SU0
PhosphoSite PhosphoSite-Q86SU0
TrEMBL
UniProt Splice Variant
Entrez Gene 286676
UniGene Hs.98484
RefSeq NP_001186728
HUGO HGNC:28741
OMIM 609739
CCDS CCDS56271
HPRD 13735
IMGT
EMBL AK129974 AY134857 AY672837 AY672838 AY672839 BC044240
GenPept AAH44240 AAN10256 BAC85264

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca