ENSG00000154099


Homo sapiens

Features
Gene ID: ENSG00000154099
  
Biological name :DNAAF1
  
Synonyms : DNAAF1 / dynein axonemal assembly factor 1 / Q8NEP3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: 1
Band: q24.1
Gene start: 84145287
Gene end: 84178767
  
Corresponding Affymetrix probe sets: 215173_at (Human Genome U133 Plus 2.0 Array)   222068_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000367815
Ensembl peptide - ENSP00000455154
Ensembl peptide - ENSP00000457373
Ensembl peptide - ENSP00000457899
Ensembl peptide - ENSP00000454960
NCBI entrez gene - 123872     See in Manteia.
OMIM - 613190
RefSeq - XM_017022919
RefSeq - XM_011522853
RefSeq - XM_011522854
RefSeq - XM_011522855
RefSeq - XM_011522857
RefSeq - XM_011522858
RefSeq - XM_017022918
RefSeq - NM_178452
RefSeq - XM_006721129
RefSeq Peptide - NP_848547
swissprot - H3BNQ4
swissprot - H3BP51
swissprot - H3BV09
swissprot - A0A140VJN4
swissprot - Q8NEP3
Ensembl - ENSG00000154099
  
Related genetic diseases (OMIM): 613193 - Ciliary dyskinesia, primary, 13, 613193
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
 dnaaf1ENSDARG00000012030Danio rerio
 DNAAF1ENSGALG00000003258Gallus gallus
 Dnaaf1ENSMUSG00000031831Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
LRRC9 / Q6ZRR7 / leucine rich repeat containing 9ENSG0000013195116
LRGUK / Q96M69 / leucine rich repeats and guanylate kinase domain containingENSG0000015553014
LRRC49 / Q8IUZ0 / leucine rich repeat containing 49ENSG0000013782112
DRC3 / Q9H069 / dynein regulatory complex subunit 3ENSG0000017196211
PPP1R7 / Q15435 / protein phosphatase 1 regulatory subunit 7ENSG000001156858
LRRC23 / Q53EV4 / leucine rich repeat containing 23ENSG000000106266


Protein motifs (from Interpro)
Interpro ID Name
 IPR001611  Leucine-rich repeat
 IPR027734  Dynein assembly factor 1, axonemal
 IPR032675  Leucine-rich repeat domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001947 heart looping IMP
 biological_processGO:0003341 cilium movement IMP
 biological_processGO:0003356 regulation of cilium beat frequency IMP
 biological_processGO:0030324 lung development IMP
 biological_processGO:0035469 determination of pancreatic left/right asymmetry IMP
 biological_processGO:0036158 outer dynein arm assembly IMP
 biological_processGO:0036159 inner dynein arm assembly IMP
 biological_processGO:0044458 motile cilium assembly IEA
 biological_processGO:0060271 cilium assembly IMP
 biological_processGO:0060287 epithelial cilium movement involved in determination of left/right asymmetry IC
 biological_processGO:0060972 left/right pattern formation IMP
 biological_processGO:0070286 axonemal dynein complex assembly IMP
 biological_processGO:0071907 determination of digestive tract left/right asymmetry IMP
 biological_processGO:0071910 determination of liver left/right asymmetry IMP
 cellular_componentGO:0000922 spindle pole IEA
 cellular_componentGO:0005737 cytoplasm NAS
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0005930 axoneme IDA
 cellular_componentGO:0016607 nuclear speck IDA
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0070840 dynein complex binding IMP


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:0000246 Sinusitis 
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 HP:0000403 Recurrent otitis media 
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 HP:0000789 Infertility 
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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:0002837 Bronchitis 
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 HP:0012256 Absent outer dynein arms "Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy." [HPO:probinson, pmid:19606528]
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 HP:0012257 Absent inner dynein arms "Absence of the outer dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy." [HPO:probinson, pmid:19606528]
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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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