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
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: 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
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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.