Atlas of Genetics and Cytogenetics in Oncology and Haematology


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DNAH1 (dynein axonemal heavy chain 1)

Identity

Alias_namesdynein, axonemal, heavy polypeptide 1
Alias_symbol (synonym)XLHSRF-1
DNAHC1
HDHC7
HL-11
HL11
Other aliasCILD37
HSRF-1
SPGF18
HGNC (Hugo) DNAH1
LocusID (NCBI) 25981
Atlas_Id 62543
Location 3p21.1  [Link to chromosome band 3p21]
Location_base_pair Starts at 52316319 and ends at 52400497 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
DNAH1 (3p21.1) / ALAS1 (3p21.2)DNAH1 (3p21.1) / MYO5A (15q21.2)DNAH1 (3p21.1) / NGFRAP1 ()
DNAH1 (3p21.1) / UBE2J2 (1p36.33)GLYCTK (3p21.1) / DNAH1 (3p21.1)NFYB (12q23.3) / DNAH1 (3p21.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)DNAH1   2940
Cards
Entrez_Gene (NCBI)DNAH1  25981  dynein axonemal heavy chain 1
AliasesCILD37; DNAHC1; HDHC7; HL-11; 
HL11; HSRF-1; SPGF18; XLHSRF-1
GeneCards (Weizmann)DNAH1
Ensembl hg19 (Hinxton)ENSG00000114841 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000114841 [Gene_View]  ENSG00000114841 [Sequence]  chr3:52316319-52400497 [Contig_View]  DNAH1 [Vega]
ICGC DataPortalENSG00000114841
TCGA cBioPortalDNAH1
AceView (NCBI)DNAH1
Genatlas (Paris)DNAH1
WikiGenes25981
SOURCE (Princeton)DNAH1
Genetics Home Reference (NIH)DNAH1
Genomic and cartography
GoldenPath hg38 (UCSC)DNAH1  -     chr3:52316319-52400497 +  3p21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DNAH1  -     3p21.1   [Description]    (hg19-Feb_2009)
GoldenPathDNAH1 - 3p21.1 [CytoView hg19]  DNAH1 - 3p21.1 [CytoView hg38]
ImmunoBaseENSG00000114841
Mapping of homologs : NCBIDNAH1 [Mapview hg19]  DNAH1 [Mapview hg38]
OMIM603332   617576   617577   
Gene and transcription
Genbank (Entrez)AB037831 AB290163 AJ132083 AK023766 AK074130
RefSeq transcript (Entrez)NM_015512
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DNAH1
Cluster EST : UnigeneHs.655469 [ NCBI ]
CGAP (NCI)Hs.655469
Alternative Splicing GalleryENSG00000114841
Gene ExpressionDNAH1 [ NCBI-GEO ]   DNAH1 [ EBI - ARRAY_EXPRESS ]   DNAH1 [ SEEK ]   DNAH1 [ MEM ]
Gene Expression Viewer (FireBrowse)DNAH1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)25981
GTEX Portal (Tissue expression)DNAH1
Human Protein AtlasENSG00000114841-DNAH1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9P2D7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9P2D7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9P2D7
Splice isoforms : SwissVarQ9P2D7
PhosPhoSitePlusQ9P2D7
Domains : Interpro (EBI)AAA_6    ATPase_dyneun-rel_AAA    DHC_D5    DHC_fam    DNAH1    Dynein_HC_stalk    Dynein_heavy_chain_D4_dom    Dynein_heavy_dom    Dynein_heavy_dom-2    P-loop_NTPase   
Domain families : Pfam (Sanger)AAA_5 (PF07728)    AAA_6 (PF12774)    AAA_8 (PF12780)    AAA_9 (PF12781)    DHC_N2 (PF08393)    Dynein_heavy (PF03028)    MT (PF12777)   
Domain families : Pfam (NCBI)pfam07728    pfam12774    pfam12780    pfam12781    pfam08393    pfam03028    pfam12777   
Conserved Domain (NCBI)DNAH1
DMDM Disease mutations25981
Blocks (Seattle)DNAH1
SuperfamilyQ9P2D7
Human Protein Atlas [tissue]ENSG00000114841-DNAH1 [tissue]
Peptide AtlasQ9P2D7
HPRD11790
IPIIPI00878816   IPI00002127   IPI00885046   IPI00916185   IPI00917176   IPI00945262   IPI00945110   IPI00944922   
Protein Interaction databases
DIP (DOE-UCLA)Q9P2D7
IntAct (EBI)Q9P2D7
FunCoupENSG00000114841
BioGRIDDNAH1
STRING (EMBL)DNAH1
ZODIACDNAH1
Ontologies - Pathways
QuickGOQ9P2D7
Ontology : AmiGOcilium movement  epithelial cilium movement  microtubule motor activity  ATP binding  extracellular region  axonemal dynein complex  microtubule  axoneme  axoneme  microtubule-based movement  sperm axoneme assembly  ATP-dependent microtubule motor activity, minus-end-directed  dynein complex  flagellated sperm motility  flagellated sperm motility  sperm flagellum  inner dynein arm  inner dynein arm assembly  dynein light chain binding  dynein intermediate chain binding  dynein light intermediate chain binding  cilium-dependent cell motility  cilium movement involved in cell motility  
Ontology : EGO-EBIcilium movement  epithelial cilium movement  microtubule motor activity  ATP binding  extracellular region  axonemal dynein complex  microtubule  axoneme  axoneme  microtubule-based movement  sperm axoneme assembly  ATP-dependent microtubule motor activity, minus-end-directed  dynein complex  flagellated sperm motility  flagellated sperm motility  sperm flagellum  inner dynein arm  inner dynein arm assembly  dynein light chain binding  dynein intermediate chain binding  dynein light intermediate chain binding  cilium-dependent cell motility  cilium movement involved in cell motility  
Pathways : BIOCARTALissencephaly gene (LIS1) in neuronal migration and development [Genes]   
NDEx NetworkDNAH1
Atlas of Cancer Signalling NetworkDNAH1
Wikipedia pathwaysDNAH1
Orthology - Evolution
OrthoDB25981
GeneTree (enSembl)ENSG00000114841
Phylogenetic Trees/Animal Genes : TreeFamDNAH1
HOGENOMQ9P2D7
Homologs : HomoloGeneDNAH1
Homology/Alignments : Family Browser (UCSC)DNAH1
Gene fusions - Rearrangements
Fusion : QuiverDNAH1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDNAH1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DNAH1
dbVarDNAH1
ClinVarDNAH1
1000_GenomesDNAH1 
Exome Variant ServerDNAH1
ExAC (Exome Aggregation Consortium)ENSG00000114841
GNOMAD BrowserENSG00000114841
Varsome BrowserDNAH1
Genetic variants : HAPMAP25981
Genomic Variants (DGV)DNAH1 [DGVbeta]
DECIPHERDNAH1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDNAH1 
Mutations
ICGC Data PortalDNAH1 
TCGA Data PortalDNAH1 
Broad Tumor PortalDNAH1
OASIS PortalDNAH1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDNAH1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DDNAH1
Mutations and Diseases : HGMDDNAH1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DNAH1
DgiDB (Drug Gene Interaction Database)DNAH1
DoCM (Curated mutations)DNAH1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DNAH1 (select a term)
intoGenDNAH1
Cancer3DDNAH1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603332    617576    617577   
Orphanet20358   
DisGeNETDNAH1
MedgenDNAH1
Genetic Testing Registry DNAH1
NextProtQ9P2D7 [Medical]
TSGene25981
GENETestsDNAH1
Target ValidationDNAH1
Huge Navigator DNAH1 [HugePedia]
snp3D : Map Gene to Disease25981
BioCentury BCIQDNAH1
ClinGenDNAH1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD25981
Chemical/Pharm GKB GenePA27394
Clinical trialDNAH1
Miscellaneous
canSAR (ICR)DNAH1 (select the gene name)
DataMed IndexDNAH1
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDNAH1
EVEXDNAH1
GoPubMedDNAH1
iHOPDNAH1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Sep 3 15:25:55 CEST 2019

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