DNAH11

From Wikipedia, the free encyclopedia

Dynein, axonemal, heavy chain 11

Identifiers

DNAH11; DNAHBL; DNAHC11; DNHBL; DPL11; FLJ30095; FLJ37699

External IDs

OMIM: 603339 MGI: 1100864 HomoloGene: 2801

Gene ontology
Molecular Function:	• nucleotide binding • microtubule motor activity • ATP binding • ATPase activity
Cellular Component:	• axonemal dynein complex • microtubule • cilium
Biological Process:	• ciliary or flagellar motility • microtubule-based movement • determination of left/right symmetry

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Entrez

8701

13411

Refseq

NM_003777 (mRNA)
NP_003768 (protein)

XM_989331 (mRNA)
XP_994425 (protein)

Pubmed search

[1]

[2]

Dynein, axonemal, heavy chain 11, also known as DNAH11, is a human gene.^[1]

This gene encodes 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.^[1]

[edit] References

^ ^a ^b Entrez Gene: DNAH11 dynein, axonemal, heavy chain 11.

[edit] Further reading

Schwabe GC, Hoffmann K, Loges NT, et al. (2008). "Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations.". Hum. Mutat. 29 (2): 289-98. doi:10.1002/humu.20656. PMID 18022865.
Cheung PY, Zhang Y, Long J, et al. (2004). "p150(Glued), Dynein, and microtubules are specifically required for activation of MKK3/6 and p38 MAPKs.". J. Biol. Chem. 279 (44): 45308-11. doi:10.1074/jbc.C400333200. PMID 15375157.
Varadi A, Johnson-Cadwell LI, Cirulli V, et al. (2005). "Cytoplasmic dynein regulates the subcellular distribution of mitochondria by controlling the recruitment of the fission factor dynamin-related protein-1.". J. Cell. Sci. 117 (Pt 19): 4389-400. doi:10.1242/jcs.01299. PMID 15304525.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40-5. doi:10.1038/ng1285. PMID 14702039.
Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7.". Nature 424 (6945): 157-64. doi:10.1038/nature01782. PMID 12853948.
Bartoloni L, Blouin JL, Pan Y, et al. (2002). "Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.". Proc. Natl. Acad. Sci. U.S.A. 99 (16): 10282-6. doi:10.1073/pnas.152337699. PMID 12142464.
Dias Neto E, Correa RG, Verjovski-Almeida S, et al. (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3491-6. PMID 10737800.
Kastury K, Taylor WE, Gutierrez M, et al. (1997). "Chromosomal mapping of two members of the human dynein gene family to chromosome regions 7p15 and 11q13 near the deafness loci DFNA 5 and DFNA 11.". Genomics 44 (3): 362-4. doi:10.1006/geno.1997.4903. PMID 9325061.
Chapelin C, Duriez B, Magnino F, et al. (1997). "Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment.". FEBS Lett. 412 (2): 325-30. PMID 9256245.