Human Gene DNAH5 (ENST00000681290.1) from GENCODE V38
  Description: dynein axonemal heavy chain 5 (from HGNC DNAH5)
RefSeq Summary (NM_001369): This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.
Gencode Transcript: ENST00000681290.1
Gencode Gene: ENSG00000039139.11
Transcript (Including UTRs)
   Position: hg38 chr5:13,690,328-14,011,818 Size: 321,491 Total Exon Count: 79 Strand: -
Coding Region
   Position: hg38 chr5:13,691,984-14,011,659 Size: 319,676 Coding Exon Count: 79 

Page IndexSequence and LinksMalaCardsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureOther SpeciesmRNA DescriptionsOther NamesGeneReviewsMethods
Data last updated at UCSC: 2021-09-27 09:51:20

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:13,690,328-14,011,818)mRNA (may differ from genome)Protein (4609 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsHGNCMGI
PubMedWikipedia

-  MalaCards Disease Associations
  MalaCards Gene Search: DNAH5
Diseases sorted by gene-association score: ciliary dyskinesia, primary, 3, with or without situs inversus* (1200), primary ciliary dyskinesia* (318), kartagener syndrome* (315), ciliary dyskinesia, primary, 1, with or without situs inversus* (100), primary ciliary dyskinesia 3: dnah5-related primary ciliary dyskinesia* (100), bronchiectasis (15), situs inversus (9), right atrial isomerism (7), visceral heterotaxy (6), cri-du-chat syndrome (5), retinitis pigmentosa (2)
* = Manually curated disease association

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1.60 RPKM in Pituitary
Total median expression: 9.73 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -72.40159-0.455 Picture PostScript Text
3' UTR -370.201656-0.224 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.

-  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
Genome BrowserGenome BrowserNo orthologGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD Ensembl  
Protein SequenceProtein Sequence Protein Sequence  
AlignmentAlignment Alignment  

-  Descriptions from all associated GenBank mRNAs
  AB046823 - Homo sapiens mRNA for KIAA1603 protein, partial cds.
AB290164 - Homo sapiens mRNA for DNAH5/KIAA1603 variant protein, partial cds.
AK128600 - Homo sapiens cDNA FLJ46759 fis, clone TRACH3023960, moderately similar to Homo sapiens dynein, axonemal, heavy polypeptide 8 (DNAH8).
AX800026 - Sequence 1 from Patent EP1327684.
AY045575 - Homo sapiens axonemal dynein heavy chain DNAH5 mRNA, complete cds.
BC172189 - Synthetic construct Homo sapiens clone IMAGE:9094278 dynein, axonemal, heavy chain 5 (DNAH5) gene, partial cds.
BC172186 - Synthetic construct Homo sapiens clone IMAGE:9094275 dynein, axonemal, heavy chain 5 (DNAH5) gene, partial cds.
AK026756 - Homo sapiens cDNA: FLJ23103 fis, clone LNG07621.
BC172188 - Synthetic construct Homo sapiens clone IMAGE:9094277 dynein, axonemal, heavy chain 5 (DNAH5) gene, partial cds.
AY049075 - Homo sapiens dynein heavy chain (DNAH5) mRNA, partial cds.
U61735 - Human clone 1 (HL-1), dynein heavy chain (Dnahc5) mRNA, partial cds.
BC172187 - Synthetic construct Homo sapiens clone IMAGE:9094276 dynein, axonemal, heavy chain 5 (DNAH5) gene, partial cds.
AK055138 - Homo sapiens cDNA FLJ30576 fis, clone BRAWH2006622, weakly similar to DYNEIN GAMMA CHAIN, FLAGELLAR OUTER ARM.
AY050643 - Homo sapiens dynein heavy chain mRNA, partial cds.

-  Other Names for This Gene
  Alternate Gene Symbols: AX800026, uc289ccg.1
UCSC ID: ENST00000681290.1
RefSeq Accession: NM_001369

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene DNAH5:
pcd (Primary Ciliary Dyskinesia)

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