Human Gene DNAH11 (ENST00000409508.8) Description and Page Index
  Description: Homo sapiens dynein axonemal heavy chain 11 (DNAH11), mRNA. (from RefSeq NM_001277115)
RefSeq Summary (NM_001277115): This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been implicated in causing Kartagener Syndrome (a combination of situs inversus totalis and Primary Ciliary Dyskinesia (PCD), also called Immotile Cilia Syndrome 1 (ICS1)) and male sterility. [provided by RefSeq, Mar 2013].
Gencode Transcript: ENST00000409508.8
Gencode Gene: ENSG00000105877.18
Transcript (Including UTRs)
   Position: hg38 chr7:21,543,039-21,901,839 Size: 358,801 Total Exon Count: 82 Strand: +
Coding Region
   Position: hg38 chr7:21,543,246-21,901,254 Size: 358,009 Coding Exon Count: 82 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesGeneReviewsMethods
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:21,543,039-21,901,839)mRNA (may differ from genome)Protein (4516 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
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Wikipedia

-  Comments and Description Text from UniProtKB
  ID: DYH11_HUMAN
DESCRIPTION: RecName: Full=Dynein heavy chain 11, axonemal; AltName: Full=Axonemal beta dynein heavy chain 11; AltName: Full=Ciliary dynein heavy chain 11;
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.
DISEASE: Defects in DNAH11 are a cause of Kartagener syndrome (KTGS) [MIM:244400]. KTGS is an autosomal recessive disorder characterized by the association of primary ciliary dyskinesia with situs inversus. Clinical features include recurrent respiratory infections, bronchiectasis, infertility, and lateral transposition of the viscera of the thorax and abdomen. The situs inversus is most often total, although it can be partial in some cases (isolated dextrocardia or isolated transposition of abdominal viscera).
DISEASE: Defects in DNAH11 are the cause of primary ciliary dyskinesia type 7 (CILD7) [MIM:611884]. CILD is an autosomal recessive disorder characterized by axonemal abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
SIMILARITY: Belongs to the dynein heavy chain family.

-  MalaCards Disease Associations
  MalaCards Gene Search: DNAH11
Diseases sorted by gene-association score: ciliary dyskinesia, primary, 7, with or without situs inversus* (1200), primary ciliary dyskinesia* (224), primary ciliary dyskinesia 7: dnah11-related primary ciliary dyskinesia* (100), ciliary dyskinesia, primary, 1, with or without situs inversus* (97), situs inversus (27), kartagener syndrome (9), visceral heterotaxy (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • C049584 2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine
  • D000643 Ammonium Chloride
  • D013749 Tetrachlorodibenzodioxin

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1.80 RPKM in Adrenal Gland
Total median expression: 10.20 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 -113.00207-0.546 Picture PostScript Text
3' UTR -142.10585-0.243 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:
PF07728 - AAA domain (dynein-related subfamily)
PF12780 - P-loop containing dynein motor region D4
PF08385 - Dynein heavy chain, N-terminal region 1
PF08393 - Dynein heavy chain, N-terminal region 2
PF03028 - Dynein heavy chain and region D6 of dynein motor
PF12777 - Microtubule-binding stalk of dynein motor

ModBase Predicted Comparative 3D Structure on Q96DT5
FrontTopSide
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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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  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:0003351 epithelial cilium movement
GO:0003356 regulation of cilium beat frequency
GO:0007018 microtubule-based movement
GO:0007368 determination of left/right symmetry
GO:0007507 heart development
GO:0007611 learning or memory
GO:0030317 flagellated sperm motility
GO:0035545 determination of left/right asymmetry in nervous system
GO:0060287 epithelial cilium movement involved in determination of left/right asymmetry
GO:1905419 sperm flagellum movement involved in flagellated sperm motility

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:0097728 9+0 motile cilium
GO:0097729 9+2 motile cilium


-  Descriptions from all associated GenBank mRNAs
  AJ320497 - Homo sapiens mRNA for axonemal beta heavy chain dynein type 11 (DNAH11 gene).
BC172196 - Synthetic construct Homo sapiens clone IMAGE:9094285 dynein, axonemal, heavy chain 11 (DNAH11) gene, partial cds.
JQ247524 - Homo sapiens axonemal dynein heavy chain 11 (DNAH11) mRNA, partial cds.
BC172197 - Synthetic construct Homo sapiens clone IMAGE:9094287 dynein, axonemal, heavy chain 11 (DNAH11) gene, partial cds.
BC172198 - Synthetic construct Homo sapiens clone IMAGE:9094288 dynein, axonemal, heavy chain 11 (DNAH11) gene, partial cds.
AK054657 - Homo sapiens cDNA FLJ30095 fis, clone BNGH41000039, moderately similar to DYNEIN BETA CHAIN, CILIARY.
AK095018 - Homo sapiens cDNA FLJ37699 fis, clone BRHIP2016788.
BC172194 - Synthetic construct Homo sapiens clone IMAGE:9094291 dynein, axonemal, heavy chain 11 (DNAH11) gene, partial cds.
BC172195 - Synthetic construct Homo sapiens clone IMAGE:9094292 dynein, axonemal, heavy chain 11 (DNAH11) gene, partial cds.
JQ247523 - Homo sapiens axonemal dynein heavy chain 11 (DNAH11) mRNA, partial cds.
AJ132087 - Homo sapiens mRNA for axonemal dynein heavy chain (DNAH11), partial.
JD113489 - Sequence 94513 from Patent EP1572962.
JD555596 - Sequence 536620 from Patent EP1572962.
JD254227 - Sequence 235251 from Patent EP1572962.
JD118301 - Sequence 99325 from Patent EP1572962.
JD178862 - Sequence 159886 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: DYH11_HUMAN, ENST00000409508.1, ENST00000409508.2, ENST00000409508.3, ENST00000409508.4, ENST00000409508.5, ENST00000409508.6, ENST00000409508.7, NM_001277115, Q96DT5, Q9UJ82, uc031swp.1, uc031swp.2, uc031swp.3
UCSC ID: ENST00000409508.8
RefSeq Accession: NM_001277115
Protein: Q96DT5 (aka DYH11_HUMAN or DYHB_HUMAN)
CCDS: CCDS64602.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene DNAH11:
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.