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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 aliasHSRF-1
HGNC (Hugo) DNAH1
LocusID (NCBI) 25981
Atlas_Id 62543
Location 3p21.1  [Link to chromosome band 3p21]
Location_base_pair Starts at 52350335 and ends at 52434513 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
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
AliasesDNAHC1; HDHC7; HL-11; HL11; 
HSRF-1; XLHSRF-1
GeneCards (Weizmann)DNAH1
Ensembl hg19 (Hinxton)ENSG00000114841 [Gene_View]  chr3:52350335-52434513 [Contig_View]  DNAH1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000114841 [Gene_View]  chr3:52350335-52434513 [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 hg19 (UCSC)DNAH1  -     chr3:52350335-52434513 +  3p21.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)DNAH1  -     3p21.1   [Description]    (hg38-Dec_2013)
EnsemblDNAH1 - 3p21.1 [CytoView hg19]  DNAH1 - 3p21.1 [CytoView hg38]
Mapping of homologs : NCBIDNAH1 [Mapview hg19]  DNAH1 [Mapview hg38]
OMIM603332   
Gene and transcription
Genbank (Entrez)AB037831 AB290163 AJ132083 AK023766 AK074130
RefSeq transcript (Entrez)NM_015512
RefSeq genomic (Entrez)NC_000003 NC_018914 NT_022517 NW_004929309
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]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)25981
GTEX Portal (Tissue expression)DNAH1
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)ATPase_dyneun-rel_AAA    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_8 (PF12780)    DHC_N2 (PF08393)    Dynein_heavy (PF03028)    MT (PF12777)   
Domain families : Pfam (NCBI)pfam07728    pfam12780    pfam08393    pfam03028    pfam12777   
Conserved Domain (NCBI)DNAH1
DMDM Disease mutations25981
Blocks (Seattle)DNAH1
SuperfamilyQ9P2D7
Human Protein AtlasENSG00000114841
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 or flagellum-dependent cell motility  cilium movement  microtubule motor activity  ATP binding  axonemal dynein complex  microtubule  metabolic process  metabolic process  response to mechanical stimulus  ATPase activity  dynein complex  sperm motility  sperm flagellum  inner dynein arm  inner dynein arm assembly  
Ontology : EGO-EBIcilium or flagellum-dependent cell motility  cilium movement  microtubule motor activity  ATP binding  axonemal dynein complex  microtubule  metabolic process  metabolic process  response to mechanical stimulus  ATPase activity  dynein complex  sperm motility  sperm flagellum  inner dynein arm  inner dynein arm assembly  
Pathways : BIOCARTALissencephaly gene (LIS1) in neuronal migration and development [Genes]   
Pathways : KEGGHuntington's disease   
NDEx NetworkDNAH1
Atlas of Cancer Signalling NetworkDNAH1
Wikipedia pathwaysDNAH1
Orthology - Evolution
OrthoDB25981
GeneTree (enSembl)ENSG00000114841
Phylogenetic Trees/Animal Genes : TreeFamDNAH1
HOVERGENQ9P2D7
HOGENOMQ9P2D7
Homologs : HomoloGeneDNAH1
Homology/Alignments : Family Browser (UCSC)DNAH1
Gene fusions - Rearrangements
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)DNAH1 (select the gene name)
Genetic variants : HAPMAP25981
Genomic Variants (DGV)DNAH1 [DGVbeta]
DECIPHER (Syndromes)3:52350335-52434513  ENSG00000114841
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]  
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] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603332   
Orphanet20358   
MedgenDNAH1
Genetic Testing Registry DNAH1
NextProtQ9P2D7 [Medical]
TSGene25981
GENETestsDNAH1
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)
Probes
Litterature
PubMed12 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

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indexed on : Tue Mar 14 12:01:54 CET 2017

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