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.
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.
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
ModBase Predicted Comparative 3D Structure on Q96DT5
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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.
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