ENSG00000256061


Homo sapiens

Features
Gene ID: ENSG00000256061
  
Biological name :DNAAF4
  
Synonyms : DNAAF4 / dynein axonemal assembly factor 4 / Q8WXU2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 15
Strand: -1
Band: q21.3
Gene start: 55410525
Gene end: 55508234
  
Corresponding Affymetrix probe sets: 235273_at (Human Genome U133 Plus 2.0 Array)   241713_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000323275
Ensembl peptide - ENSP00000429219
Ensembl peptide - ENSP00000428097
Ensembl peptide - ENSP00000403412
Ensembl peptide - ENSP00000402640
Ensembl peptide - ENSP00000299561
NCBI entrez gene - 161582     See in Manteia.
OMIM - 608706
RefSeq - NM_001033559
RefSeq - NM_001033560
RefSeq - NM_130810
RefSeq Peptide - NP_001028732
RefSeq Peptide - NP_570722
RefSeq Peptide - NP_001028731
swissprot - Q8WXU2
swissprot - B4DY92
swissprot - A0A0S2Z5Z4
swissprot - E5RJ13
Ensembl - ENSG00000256061
  
Related genetic diseases (OMIM): 127700 - {Dyslexia, susceptibility to, 1}, 127700
  615482 - Ciliary dyskinesia, primary, 25, 615482
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
 dnaaf4ENSDARG00000099161Danio rerio
 Dyx1c1ENSMUSG00000092192Mus musculus
 Gm44503ENSMUSG00000089865Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR007052  CS domain
 IPR008978  HSP20-like chaperone
 IPR011990  Tetratricopeptide-like helical domain superfamily
 IPR013026  Tetratricopeptide repeat-containing domain
 IPR019734  Tetratricopeptide repeat


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001764 neuron migration ISS
 biological_processGO:0003341 cilium movement IMP
 biological_processGO:0007368 determination of left/right symmetry IMP
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0033146 regulation of intracellular estrogen receptor signaling pathway IDA
 biological_processGO:0036158 outer dynein arm assembly IMP
 biological_processGO:0036159 inner dynein arm assembly IMP
 biological_processGO:0061136 regulation of proteasomal protein catabolic process IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005813 centrosome IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0097730 non-motile cilium IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0030331 estrogen receptor binding 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: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:0003593 Early onset 
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 HP:0006510 Chronic obstructive pulmonary disease 
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 HP:0011108 Recurrent sinusitis "A `recurrent` (PATO:0000427) form of `sinusitis` (HP:0000246)." [HPO:probinson]
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 HP:0012263 Immotile cilia 
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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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