DNAH5

From Wikipedia, the free encyclopedia

Dynein, axonemal, heavy chain 5

Identifiers

DNAH5; CILD3; DNAHC5; FLJ46759; HL1; KIAA1603; KTGNR; PCD

External IDs

OMIM: 603335 MGI: 107718 HomoloGene: 1048

Gene ontology
Molecular Function:	• nucleotide binding • microtubule motor activity • ATP binding • ATPase activity
Cellular Component:	• cellular_component • axonemal dynein complex • microtubule
Biological Process:	• ciliary or flagellar motility • microtubule-based movement • biological_process

Orthologs

Human

Mouse

Refseq

NM_001369 (mRNA)
NP_001360 (protein)

NM_133365 (mRNA)
NP_579943 (protein)

Location

Chr 5: 13.74 - 14 Mb

Chr 15: 28.15 - 28.42 Mb

Pubmed search

[1]

[2]

Dynein, axonemal, heavy chain 5, also known as DNAH5, is a human gene.^[1]

[edit] References

^ Entrez Gene: DNAH5 dynein, axonemal, heavy chain 5.

[edit] Further reading

Jouannet P, Escaller D, Serres C, David G (1983). "Motility of human sperm without outer dynein arms.". J. Submicrosc. Cytol. 15 (1): 67–71. PMID 6221120.
Vaughan KT, Mikami A, Paschal BM, et al. (1997). "Multiple mouse chromosomal loci for dynein-based motility.". Genomics 36 (1): 29–38. doi:10.1006/geno.1996.0422. PMID 8812413.
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.
Neesen J, Koehler MR, Kirschner R, et al. (1997). "Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene.". Gene 200 (1-2): 193–202. PMID 9373155.
Nagase T, Kikuno R, Nakayama M, et al. (2001). "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.". DNA Res. 7 (4): 273–81. PMID 10997877.
Omran H, Häffner K, Völkel A, et al. (2000). "Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene.". Am. J. Respir. Cell Mol. Biol. 23 (5): 696–702. PMID 11062149.
Olbrich H, Häffner K, Kispert A, et al. (2002). "Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.". Nat. Genet. 30 (2): 143–4. doi:10.1038/ng817. PMID 11788826.
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.
Horváth J, Fliegauf M, Olbrich H, et al. (2005). "Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients.". Am. J. Respir. Cell Mol. Biol. 33 (1): 41–7. doi:10.1165/rcmb.2004-0335OC. PMID 15845866.
Olbrich H, Horváth J, Fekete A, et al. (2006). "Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia.". Pediatr. Res. 59 (3): 418–22. doi:10.1203/01.pdr.0000200809.21364.e2. PMID 16492982.
Hornef N, Olbrich H, Horvath J, et al. (2006). "DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.". Am. J. Respir. Crit. Care Med. 174 (2): 120–6. doi:10.1164/rccm.200601-084OC. PMID 16627867.