Human Gene DNAH9 (ENST00000262442.9_6) from GENCODE V47lift37
  Description: dynein axonemal heavy chain 9, transcript variant 2 (from RefSeq NM_001372.4)
Gencode Transcript: ENST00000262442.9_6
Gencode Gene: ENSG00000007174.18_12
Transcript (Including UTRs)
   Position: hg19 chr17:11,501,787-11,873,065 Size: 371,279 Total Exon Count: 69 Strand: +
Coding Region
   Position: hg19 chr17:11,501,816-11,872,844 Size: 371,029 Coding Exon Count: 69 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:11,501,787-11,873,065)mRNA (may differ from genome)Protein (4486 aa)
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-  Comments and Description Text from UniProtKB
  ID: DYH9_HUMAN
DESCRIPTION: RecName: Full=Dynein heavy chain 9, axonemal; AltName: Full=Axonemal beta dynein heavy chain 9; AltName: Full=Ciliary dynein heavy chain 9;
FUNCTION: Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP.
SUBUNIT: Consists of at least two heavy chains and a number of intermediate and light chains.
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme.
DOMAIN: Dynein heavy chains probably consist of an N-terminal stem (which binds cargo and interacts with other dynein components), and the head or motor domain. The motor contains six tandemly- linked AAA domains in the head, which form a ring. A stalk-like structure (formed by two of the coiled coil domains) protrudes between AAA 4 and AAA 5 and terminates in a microtubule-binding site. A seventh domain may also contribute to this ring; it is not clear whether the N-terminus or the C-terminus forms this extra domain. There are four well-conserved and two non-conserved ATPase sites, one per AAA domain. Probably only one of these (within AAA 1) actually hydrolyzes ATP, the others may serve a regulatory function.
SIMILARITY: Belongs to the dynein heavy chain family.

-  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: DNAH9
Diseases sorted by gene-association score: cardiac tamponade (5), primary ciliary dyskinesia (2), visceral heterotaxy (1)

-  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: 2.22 RPKM in Testis
Total median expression: 11.98 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 -5.7029-0.197 Picture PostScript Text
3' UTR -60.60221-0.274 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
  InterPro Domains: Graphical view of domain structure
IPR003593 - AAA+_ATPase
IPR011704 - ATPase_dyneun-rel_AAA
IPR026983 - DHC_fam
IPR024743 - Dynein_HC_stalk
IPR024317 - Dynein_heavy_chain_D4_dom
IPR004273 - Dynein_heavy_dom
IPR013594 - Dynein_heavy_dom-1
IPR013602 - Dynein_heavy_dom-2

Pfam Domains:
PF03028 - Dynein heavy chain region D6 P-loop domain
PF07728 - AAA domain (dynein-related subfamily)
PF08385 - Dynein heavy chain, N-terminal region 1
PF08393 - Dynein heavy chain, N-terminal region 2
PF12774 - Hydrolytic ATP binding site of dynein motor region
PF12775 - P-loop containing dynein motor region
PF12777 - Microtubule-binding stalk of dynein motor
PF12780 - P-loop containing dynein motor region D4
PF12781 - ATP-binding dynein motor region
PF17852 - Dynein heavy chain AAA lid domain
PF17857 - AAA+ lid domain
PF18198 - Dynein heavy chain AAA lid domain
PF18199 - Dynein heavy chain C-terminal domain

SCOP Domains:
158622 - YheA/YmcA-like
47203 - Acyl-CoA dehydrogenase C-terminal domain-like
52540 - P-loop containing nucleoside triphosphate hydrolases
53795 - PEP carboxykinase-like
58104 - Methyl-accepting chemotaxis protein (MCP) signaling domain

ModBase Predicted Comparative 3D Structure on Q9NYC9
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-  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 orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003774 motor activity
GO:0003777 microtubule motor activity
GO:0005524 ATP binding
GO:0008569 ATP-dependent microtubule motor activity, minus-end-directed
GO:0016887 ATPase activity
GO:0045503 dynein light chain binding
GO:0045505 dynein intermediate chain binding
GO:0051959 dynein light intermediate chain binding

Biological Process:
GO:0003341 cilium movement
GO:0007018 microtubule-based movement
GO:0030030 cell projection organization

Cellular Component:
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005874 microtubule
GO:0005929 cilium
GO:0005930 axoneme
GO:0030286 dynein complex
GO:0031514 motile cilium
GO:0042995 cell projection
GO:0097729 9+2 motile cilium


-  Descriptions from all associated GenBank mRNAs
  AJ404468 - Homo sapiens mRNA for dynein heavy chain 9 (DNAH9 gene).
AF257737 - Homo sapiens ciliary dynein heavy chain 9 (DNAH9) mRNA, complete cds.
AB290158 - Homo sapiens mRNA for DNAH9/KIAA0357 variant protein, partial cds.
AB002355 - Homo sapiens mRNA for KIAA0357 gene, partial cds.
BC153883 - Homo sapiens dynein, axonemal, heavy chain 9, mRNA (cDNA clone IMAGE:8860494), partial cds.
X99947 - Homo sapiens mRNA dynein-related protein.
AK302009 - Homo sapiens cDNA FLJ54811 complete cds, highly similar to Ciliary dynein heavy chain 9.
BC128421 - Homo sapiens dynein, axonemal, heavy chain 9, mRNA (cDNA clone IMAGE:40118426), complete cds.
BC128261 - Homo sapiens dynein, axonemal, heavy chain 9, mRNA (cDNA clone IMAGE:40118418), complete cds.
AK055990 - Homo sapiens cDNA FLJ31428 fis, clone NT2NE2000517, highly similar to Homo sapiens ciliary dynein heavy chain 9 (DNAH9) mRNA.
AK310137 - Homo sapiens cDNA, FLJ17179.
AJ132088 - Homo sapiens mRNA for axonemal dynein heavy chain (DNAH9), partial.
U61740 - Human clone 20 (HL-20), dynein heavy chain (Dnahc9) mRNA, partial cds.
JD129285 - Sequence 110309 from Patent EP1572962.
JD495628 - Sequence 476652 from Patent EP1572962.
JD190223 - Sequence 171247 from Patent EP1572962.
JD384207 - Sequence 365231 from Patent EP1572962.
AF015265 - Homo sapiens axonemal dynein mRNA, partial cds.
JD213891 - Sequence 194915 from Patent EP1572962.
JD429361 - Sequence 410385 from Patent EP1572962.
JD459407 - Sequence 440431 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A2VCQ8, DNAH17L, DNAH9 , DNEL1, DYH9_HUMAN, ENST00000262442.1, ENST00000262442.2, ENST00000262442.3, ENST00000262442.4, ENST00000262442.5, ENST00000262442.6, ENST00000262442.7, ENST00000262442.8, KIAA0357, NM_001372, O15064, O95494, Q9NQ28, Q9NYC9, uc317haj.1, uc317haj.2
UCSC ID: ENST00000262442.9_6
RefSeq Accession: NM_001372.4
Protein: Q9NYC9 (aka DYH9_HUMAN)

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