InnateDB Protein
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IDBP-52287.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ILDR1
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Protein Name
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immunoglobulin-like domain containing receptor 1
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000273691
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InnateDB Gene
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IDBG-52283 (ILDR1)
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Protein Structure
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Function |
Putative membrane receptor.
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Subcellular Localization |
Cell membrane {ECO:0000269PubMed:15381095}; Single-pass type I membrane protein {ECO:0000269PubMed:15381095}.Isoform 5: Cytoplasm, cytosol.
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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.
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Tissue Specificity |
Mainly expressed in prostate and to a lower extent in testis, pancreas, kidney, heart and liver. {ECO:0000269PubMed:15381095}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR003599
Immunoglobulin subtype
IPR008664
LISCH7
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PFAM |
PF05624
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PRINTS |
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PIRSF |
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SMART |
SM00409
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TIGRFAMs |
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Modification |
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SwissProt |
Q86SU0
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PhosphoSite |
PhosphoSite-Q86SU0
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
286676
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UniGene |
Hs.98484
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RefSeq |
NP_787120
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HUGO |
HGNC:28741
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OMIM |
609739
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CCDS |
CCDS3008
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HPRD |
13735
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IMGT |
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EMBL |
AK129974
AY134857
AY672837
AY672838
AY672839
BC044240
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GenPept |
AAH44240
AAN10256
BAC85264
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