ENSG00000198003


Homo sapiens

Features
Gene ID: ENSG00000198003
  
Biological name :CCDC151
  
Synonyms : A5D8V7 / CCDC151 / coiled-coil domain containing 151
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: -1
Band: p13.2
Gene start: 11420604
Gene end: 11435782
  
Corresponding Affymetrix probe sets: 230807_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000467429
Ensembl peptide - ENSP00000348757
Ensembl peptide - ENSP00000466800
Ensembl peptide - ENSP00000467313
NCBI entrez gene - 115948     See in Manteia.
OMIM - 615956
RefSeq - XM_017026241
RefSeq - NM_001302453
RefSeq - NM_001302454
RefSeq - NM_145045
RefSeq Peptide - NP_001289382
RefSeq Peptide - NP_659482
RefSeq Peptide - NP_001289383
swissprot - K7EPK8
swissprot - K7EN59
swissprot - K7EPB4
swissprot - A5D8V7
Ensembl - ENSG00000198003
  
Related genetic diseases (OMIM): 616037 - Ciliary dyskinesia, primary, 30, 616037
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
 ccdc151ENSDARG00000062978Danio rerio
 Ccdc151ENSMUSG00000039632Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q5T5S1 / CCDC183 / coiled-coil domain containing 183ENSG0000021321319


Protein motifs (from Interpro)
Interpro ID Name
 IPR033192  Coiled-coil domain-containing protein 151


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0003341 cilium movement IEA
 biological_processGO:0007368 determination of left/right symmetry IMP
 biological_processGO:0030030 cell projection organization IEA
 biological_processGO:0036158 outer dynein arm assembly IDA
 biological_processGO:0070286 axonemal dynein complex assembly IEA
 biological_processGO:1902017 regulation of cilium assembly ISS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005814 centriole ISS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0005930 axoneme IDA
 cellular_componentGO:0036064 ciliary basal body ISS
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0005515 protein binding IPI


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:0000403 Recurrent otitis media 
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 HP:0001696 Situs inversus "A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs." [HPO:curators]
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 HP:0001742 Nasal obstruction leading to mouth breathing 
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 HP:0002099 Asthma "Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing." [HPO:curators]
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 HP:0002110 Bronchiectasis 
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 HP:0002205 Recurrent respiratory infections 
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 HP:0004469 Chronic bronchitis 
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 HP:0012265 Ciliary dyskinesia "A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia." [HPO:probinson, pmid:19606528]
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 HP:0012735 Cough "A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation." [HPO:probinson]
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 HP:0100582 Nasal polyposis "Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis." [HPO:sdoelken]
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 HP:0200073 Respiratory insufficiency due to defective ciliary clearance 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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