ENSG00000145103


Homo sapiens

Features
Gene ID: ENSG00000145103
  
Biological name :ILDR1
  
Synonyms : ILDR1 / immunoglobulin like domain containing receptor 1 / Q86SU0
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: -1
Band: q13.33
Gene start: 121987323
Gene end: 122022258
  
Corresponding Affymetrix probe sets: 1553545_at (Human Genome U133 Plus 2.0 Array)   235583_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000419414
Ensembl peptide - ENSP00000273691
Ensembl peptide - ENSP00000345667
Ensembl peptide - ENSP00000495499
Ensembl peptide - ENSP00000377251
NCBI entrez gene - 286676     See in Manteia.
OMIM - 609739
RefSeq - XM_011512739
RefSeq - NM_001199799
RefSeq - NM_001199800
RefSeq - NM_175924
RefSeq - XM_005247389
RefSeq - XM_011512738
RefSeq Peptide - NP_001186728
RefSeq Peptide - NP_001186729
RefSeq Peptide - NP_787120
swissprot - Q86SU0
Ensembl - ENSG00000145103
  
Related genetic diseases (OMIM): 609646 - Deafness, autosomal recessive 42, 609646
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ildr1aENSDARG00000103929Danio rerio
 ildr1bENSDARG00000040910Danio rerio
 ILDR1ENSGALG00000015136Gallus gallus
 Ildr1ENSMUSG00000022900Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
LSR / Q86X29 / lipolysis stimulated lipoprotein receptorENSG0000010569927
ILDR2 / Q71H61 / immunoglobulin like domain containing receptor 2ENSG0000014319526


Protein motifs (from Interpro)
Interpro ID Name
 IPR003599  Immunoglobulin subtype
 IPR008664  LISCH7
 IPR013783  Immunoglobulin-like fold
 IPR036179  Immunoglobulin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006898 receptor-mediated endocytosis IEA
 biological_processGO:0051260 protein homooligomerization IDA
 biological_processGO:0090277 positive regulation of peptide hormone secretion IEA
 biological_processGO:1990830 cellular response to leukemia inhibitory factor IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0032991 protein-containing complex IDA
 cellular_componentGO:0061689 tricellular tight junction IEA
 molecular_functionGO:0042802 identical protein binding IDA
 molecular_functionGO:0070506 high-density lipoprotein particle receptor activity IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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 HP:0003593 Early onset 
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 HP:0003680 Nonprogressive disorder 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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