ENSG00000173588


Homo sapiens

Features
Gene ID: ENSG00000173588
  
Biological name :CEP83
  
Synonyms : centrosomal protein 83 / CEP83 / Q9Y592
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: -1
Band: q22
Gene start: 94306449
Gene end: 94459988
  
Corresponding Affymetrix probe sets: 219644_at (Human Genome U133 Plus 2.0 Array)   239282_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000447783
Ensembl peptide - ENSP00000447449
Ensembl peptide - ENSP00000448913
Ensembl peptide - ENSP00000344655
Ensembl peptide - ENSP00000380909
Ensembl peptide - ENSP00000380911
Ensembl peptide - ENSP00000447094
NCBI entrez gene - 51134     See in Manteia.
OMIM - 615847
RefSeq - XM_017019389
RefSeq - NM_001346460
RefSeq - NM_016122
RefSeq - XM_006719437
RefSeq - XM_011538424
RefSeq - XM_011538427
RefSeq - XM_011538429
RefSeq - XM_017019385
RefSeq - XM_017019386
RefSeq - XM_017019387
RefSeq - XM_017019388
RefSeq - NM_001042399
RefSeq Peptide - NP_057206
RefSeq Peptide - NP_001035858
RefSeq Peptide - NP_001333386
RefSeq Peptide - NP_001333389
RefSeq Peptide - NP_001333390
swissprot - A0A0A0MS84
swissprot - H0YHH5
swissprot - J3KNW7
swissprot - Q9Y592
swissprot - F8VYN8
Ensembl - ENSG00000173588
  
Related genetic diseases (OMIM): 615862 - Nephronophthisis 18, 615862
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
 cep83ENSDARG00000101236Danio rerio
 CEP83ENSGALG00000019336Gallus gallus
 Cep83ENSMUSG00000020024Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR029631  Centrosomal protein of 83kDa


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0030030 cell projection organization IEA
 biological_processGO:0048278 vesicle docking IEA
 biological_processGO:0051660 establishment of centrosome localization IEA
 biological_processGO:0060271 cilium assembly IEA
 biological_processGO:0071539 protein localization to centrosome IMP
 biological_processGO:0097711 ciliary basal body-plasma membrane docking TAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0005814 centriole IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0097539 ciliary transition fiber IDA
 molecular_functionGO:0003674 molecular_function ND
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Anchoring of the basal body to the plasma membrane


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:0000090 Nephronophthisis 
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 HP:0000092 Tubular atrophy 
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 HP:0000238 Hydrocephalus 
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 HP:0000486 Strabismus "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators]
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 HP:0001249 Mental retardation 
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 HP:0001396 Cholestasis 
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 HP:0001970 Tubulointerstitial nephritis 
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 HP:0003774 End stage renal disease 
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 HP:0004722 Thickening of the glomerular basement membrane on renal biopsy 
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 HP:0006580 Mild portal fibrosis 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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