ENSG00000167131


Homo sapiens

Features
Gene ID: ENSG00000167131
  
Biological name :CCDC103
  
Synonyms : CCDC103 / coiled-coil domain containing 103 / Q8IW40
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: 1
Band: q21.31
Gene start: 44899142
Gene end: 44905390
  
Corresponding Affymetrix probe sets: 228300_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000386640
Ensembl peptide - ENSP00000350420
Ensembl peptide - ENSP00000391692
Ensembl peptide - ENSP00000462450
Ensembl peptide - ENSP00000387252
NCBI entrez gene - 388389     See in Manteia.
OMIM - 614677
RefSeq - NM_001258397
RefSeq - NM_001258399
RefSeq - NM_001258398
RefSeq Peptide - NP_001245326
RefSeq Peptide - NP_001245328
RefSeq Peptide - NP_001245327
swissprot - Q8IW40
swissprot - F8W6J8
swissprot - J3KSE5
Ensembl - ENSG00000167131
  
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
 Q6DGB6ENSDARG00000053455Danio rerio
 ENSGALG00000000918Gallus gallus
 Q9D9P2ENSMUSG00000020930Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
A6NFU0 / FAM187A / family with sequence similarity 187 member AENSG00000214447100


Protein motifs (from Interpro)
Interpro ID Name
 IPR025986  RNA-polymerase II-associated protein 3-like, C-terminal domain
 IPR031733  Dynein attachment factor, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001947 heart looping IMP
 biological_processGO:0003341 cilium movement IGI
 biological_processGO:0030030 cell projection organization IEA
 biological_processGO:0036158 outer dynein arm assembly IGI
 biological_processGO:0036159 inner dynein arm assembly IGI
 biological_processGO:0060287 epithelial cilium movement involved in determination of left/right asymmetry IC
 biological_processGO:0070286 axonemal dynein complex assembly IMP
 biological_processGO:0071907 determination of digestive tract left/right asymmetry IMP
 cellular_componentGO:0005737 cytoplasm ISS
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0005930 axoneme ISS
 cellular_componentGO:0031514 motile cilium IEA
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042803 protein homodimerization activity IDA


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: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:0002110 Bronchiectasis 
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 HP:0002205 Recurrent respiratory infections 
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 HP:0002257 Chronic rhinitis 
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 HP:0003577 Onset at birth 
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 HP:0005938 Ciliary dysgenesis 
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 HP:0011109 Chronic sinusitis "A chronic form of `sinusitis` (HP:0000246)." [HPO:probinson]
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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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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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