Human Gene DNAH1 (uc011bef.2)
  Description: Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.
RefSeq Summary (NM_015512): This gene encodes an inner dynein arm heavy chain that provides structural support between the radial spokes and the outer doublet of the sperm tail. Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and multiple morphological anomalies of the flagella that result in asthenozoospermia and male infertility. Mice with a homozygous knockout of the orthologous gene are viable but have reduced sperm motility and are infertile. [provided by RefSeq, Feb 2017].
Transcript (Including UTRs)
   Position: hg19 chr3:52,350,335-52,434,513 Size: 84,179 Total Exon Count: 78 Strand: +
Coding Region
   Position: hg19 chr3:52,356,459-52,434,462 Size: 78,004 Coding Exon Count: 77 

Page IndexSequence and LinksPrimersMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:52,350,335-52,434,513)mRNA (may differ from genome)Protein (4265 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DNAH1
Diseases sorted by gene-association score: ciliary dyskinesia, primary, 37* (950), spermatogenic failure 18* (900), primary ciliary dyskinesia 37: dnah1-related primary ciliary dyskinesia* (500), non-syndromic male infertility due to sperm motility disorder* (202), kartagener syndrome* (82), ciliary dyskinesia, primary, 1, with or without situs inversus* (72), male infertility (5), primary ciliary dyskinesia (4), infertility (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 12.01 RPKM in Testis
Total median expression: 143.44 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -76.46261-0.293 Picture PostScript Text
3' UTR -9.6051-0.188 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF03028 - Dynein heavy chain and region D6 of dynein motor
PF07728 - AAA domain (dynein-related subfamily)
PF08393 - Dynein heavy chain, N-terminal region 2
PF12774 - Hydrolytic ATP binding site of dynein motor region D1
PF12775 - P-loop containing dynein motor region D3
PF12777 - Microtubule-binding stalk of dynein motor
PF12780 - P-loop containing dynein motor region D4
PF12781 - ATP-binding dynein motor region D5

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on Q9P2D7-4
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Descriptions from all associated GenBank mRNAs
  AB037831 - Homo sapiens KIAA1410 mRNA for KIAA1410 protein.
AB290163 - Homo sapiens mRNA for DNAH1/KIAA1410 variant protein, complete cds.
HM005373 - Homo sapiens clone HTL-T-60 testicular tissue protein Li 60 mRNA, complete cds.
AB384201 - Synthetic construct DNA, clone: pF1KSDA1410, Homo sapiens DNAH1 gene for dynein axonemal heavy chain 1, complete cds, without stop codon, in Flexi system.
AY221994 - Homo sapiens heat shock regulated-1 mRNA, complete cds.
AK074130 - Homo sapiens mRNA for FLJ00203 protein, partial cds.
AK023766 - Homo sapiens cDNA FLJ13704 fis, clone PLACE2000274, weakly similar to DYNEIN BETA CHAIN, CILIARY.
KM576710 - Homo sapiens clone GLYCTK-DNAH1_G2out-G3-D1middle mRNA sequence.
KM576708 - Homo sapiens clone GLYCTK-DNAH1_G3-D1middle mRNA sequence.
KM576709 - Homo sapiens clone GLYCTK-DNAH1_G3-intergenicseq-D1middle-D1cin mRNA sequence.
AK125990 - Homo sapiens cDNA FLJ44002 fis, clone TESTI4022873.
AJ132083 - Homo sapiens mRNA for axonemal dynein heavy chain (DNAH1), partial.
U61738 - Human clone 11 (HL-11), dynein heavy chain (Dnahc1) mRNA, partial cds.
AL117428 - Homo sapiens mRNA; cDNA DKFZp434A236 (from clone DKFZp434A236); partial cds.
JD479541 - Sequence 460565 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa05016 - Huntington's disease

BioCarta from NCI Cancer Genome Anatomy Project
h_Lis1Pathway - Lissencephaly gene (LIS1) in neuronal migration and development

-  Other Names for This Gene
  Alternate Gene Symbols: DHC7, DNAHC1, KIAA1410, NM_015512, NP_056327, Q9P2D7-4
UCSC ID: uc011bef.2
RefSeq Accession: NM_015512
Protein: Q9P2D7-4 CCDS: CCDS46842.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene DNAH1:
pcd (Primary Ciliary Dyskinesia)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_015512.4
exon count: 78CDS single in 3' UTR: no RNA size: 13126
ORF size: 12798CDS single in intron: no Alignment % ID: 99.99
txCdsPredict score: 25543.00frame shift in genome: no % Coverage: 99.88
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.