ENSG00000114841


Homo sapiens

Features
Gene ID: ENSG00000114841
  
Biological name :DNAH1
  
Synonyms : DNAH1 / dynein axonemal heavy chain 1 / Q9P2D7
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: 1
Band: p21.1
Gene start: 52316319
Gene end: 52400491
  
Corresponding Affymetrix probe sets: 1558768_at (Human Genome U133 Plus 2.0 Array)   1558769_s_at (Human Genome U133 Plus 2.0 Array)   1562278_at (Human Genome U133 Plus 2.0 Array)   1566775_at (Human Genome U133 Plus 2.0 Array)   1566776_at (Human Genome U133 Plus 2.0 Array)   1567376_at (Human Genome U133 Plus 2.0 Array)   1567377_at (Human Genome U133 Plus 2.0 Array)   1567378_x_at (Human Genome U133 Plus 2.0 Array)   228111_s_at (Human Genome U133 Plus 2.0 Array)   228112_at (Human Genome U133 Plus 2.0 Array)   232005_at (Human Genome U133 Plus 2.0 Array)   239059_at (Human Genome U133 Plus 2.0 Array)   242591_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000419071
Ensembl peptide - ENSP00000401514
Ensembl peptide - ENSP00000418688
NCBI entrez gene - 25981     See in Manteia.
OMIM - 603332
RefSeq - XM_017006133
RefSeq - NM_015512
RefSeq - XM_017006129
RefSeq - XM_017006130
RefSeq - XM_017006131
RefSeq - XM_017006132
RefSeq Peptide - NP_056327
swissprot - H7C506
swissprot - H7C563
swissprot - A0A140VJI6
swissprot - Q9P2D7
Ensembl - ENSG00000114841
  
Related genetic diseases (OMIM): 617576 - Spermatogenic failure 18, 617576
  617577 - ?Ciliary dyskinesia, primary, 37, 617577
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
 dnah1ENSDARG00000100115Danio rerio
 DNAH1ENSGALG00000004297Gallus gallus
 Dnah1ENSMUSG00000019027Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
DNAH7 / Q8WXX0 / dynein axonemal heavy chain 7ENSG0000011899740
DNAH6 / Q9C0G6 / dynein axonemal heavy chain 6ENSG0000011542335
DNAH2 / Q9P225 / dynein axonemal heavy chain 2ENSG0000018391434
DNAH11 / Q96DT5 / dynein axonemal heavy chain 11ENSG0000010587729
DNAH8 / Q96JB1 / dynein axonemal heavy chain 8ENSG0000012472129
DNAH17 / Q9UFH2 / dynein axonemal heavy chain 17ENSG0000018777529
Q14204 / DYNC1H1 / dynein cytoplasmic 1 heavy chain 1ENSG0000019710224
DNAH14 / Q0VDD8 / dynein axonemal heavy chain 14ENSG000001858421


Protein motifs (from Interpro)
Interpro ID Name
 IPR004273  Dynein heavy chain domain
 IPR011704  ATPase, dynein-related, AAA domain
 IPR013602  Dynein heavy chain, domain-2
 IPR024317  Dynein heavy chain, AAA module D4
 IPR024743  Dynein heavy chain, coiled coil stalk
 IPR026975  Dynein heavy chain 1, axonemal
 IPR026983  Dynein heavy chain
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR035699  Dynein heavy chain, hydrolytic ATP-binding dynein motor region D1
 IPR035706  Dynein heavy chain, ATP-binding dynein motor region D5


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0003341 cilium movement IEA
 biological_processGO:0003351 epithelial cilium movement IEA
 biological_processGO:0007018 microtubule-based movement IEA
 biological_processGO:0007288 sperm axoneme assembly IMP
 biological_processGO:0030317 flagellated sperm motility IMP
 biological_processGO:0036159 inner dynein arm assembly IDA
 biological_processGO:0060285 cilium-dependent cell motility NAS
 biological_processGO:0060294 cilium movement involved in cell motility IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005858 axonemal dynein complex IEA
 cellular_componentGO:0005874 microtubule IEA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0005930 axoneme IMP
 cellular_componentGO:0030286 dynein complex IEA
 cellular_componentGO:0036126 sperm flagellum IDA
 cellular_componentGO:0036156 inner dynein arm IDA
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003774 motor activity IEA
 molecular_functionGO:0003777 microtubule motor activity IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0008569 ATP-dependent microtubule motor activity, minus-end-directed IBA
 molecular_functionGO:0016887 ATPase activity IEA
 molecular_functionGO:0045503 dynein light chain binding IBA
 molecular_functionGO:0045505 dynein intermediate chain binding IBA
 molecular_functionGO:0051959 dynein light intermediate chain binding IBA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0002205 Recurrent respiratory infections 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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