ENSG00000109103


Homo sapiens

Features
Gene ID: ENSG00000109103
  
Biological name :UNC119
  
Synonyms : Q13432 / UNC119 / unc-119 lipid binding chaperone
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: -1
Band: q11.2
Gene start: 28546707
Gene end: 28552668
  
Corresponding Affymetrix probe sets: 203271_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000465323
Ensembl peptide - ENSP00000463893
Ensembl peptide - ENSP00000466831
Ensembl peptide - ENSP00000301032
Ensembl peptide - ENSP00000337040
Ensembl peptide - ENSP00000414639
NCBI entrez gene - 9094     See in Manteia.
OMIM - 604011
RefSeq - XM_017025289
RefSeq - NM_005148
RefSeq - NM_054035
RefSeq - XM_011525459
RefSeq Peptide - NP_001317095
RefSeq Peptide - NP_005139
RefSeq Peptide - NP_473376
swissprot - K7EJU3
swissprot - Q13432
swissprot - K7EN86
swissprot - C9JSK0
swissprot - J3QQT8
Ensembl - ENSG00000109103
  
Related genetic diseases (OMIM): 604011 - ?Cone-rod dystrophy
  615518 - ?Immunodeficiency 13, 615518
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
 unc119aENSDARG00000034453Danio rerio
 unc119bENSDARG00000044362Danio rerio
 UNC119ENSGALG00000003657Gallus gallus
 Q9Z2R6ENSMUSG00000002058Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
A6NIH7 / UNC119B / unc-119 lipid binding chaperone BENSG0000017597058


Protein motifs (from Interpro)
Interpro ID Name
 IPR008015  GMP phosphodiesterase, delta subunit
 IPR014756  Immunoglobulin E-set
 IPR032977  Protein unc-119 homologue A-like
 IPR037036  GMP phosphodiesterase, delta subunit superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000281 mitotic cytokinesis IMP
 biological_processGO:0006897 endocytosis IEA
 biological_processGO:0007268 chemical synaptic transmission TAS
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0007601 visual perception TAS
 biological_processGO:0007602 phototransduction TAS
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0030182 neuron differentiation IBA
 biological_processGO:0042953 lipoprotein transport IDA
 biological_processGO:0050896 response to stimulus IEA
 biological_processGO:0061098 positive regulation of protein tyrosine kinase activity IMP
 biological_processGO:1900186 negative regulation of clathrin-dependent endocytosis ISS
 biological_processGO:2001287 negative regulation of caveolin-mediated endocytosis ISS
 cellular_componentGO:0000922 spindle pole IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005813 centrosome IDA
 cellular_componentGO:0005815 microtubule organizing center IEA
 cellular_componentGO:0005819 spindle IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0045171 intercellular bridge IDA
 cellular_componentGO:0051233 spindle midzone IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008289 lipid binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000403 Recurrent otitis media 
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 HP:0000505 Impaired vision 
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 HP:0000551 Abnormal color vision 
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 HP:0000613 Photophobia "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators]
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 HP:0000662 Night blindness 
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 HP:0001888 Lymphopenia 
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 HP:0002721 Immunodeficiency 
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 HP:0007703 Abnormal retinal pigmentation 
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 HP:0011108 Recurrent sinusitis "A `recurrent` (PATO:0000427) form of `sinusitis` (HP:0000246)." [HPO:probinson]
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 HP:0011945 Bronchiolitis obliterans organizing pneumonia "Bronchiolitis obliterans organizing pneumonia (BOOP) is and interstitial lung abnormalitiy characterized histopathologically by plugs of granulation tissue lying within small airways, alveolar ducts, and alveoli and by chronic inflammatory cell infiltration in alveolar walls. Patients with BOOP generally present with subacute illness, including shortness of breath, fever, malaise, and weight loss." [DDD:tkuijpers, HPO:probinson, pmid:20858818]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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