Dynein intermediate chain 1, axonemal is a protein that in humans is encoded by the DNAI1gene.
The inner- and outer-arm dyneins, which bridge between the doublet microtubules in axonemes, are the force-generating proteins responsible for the sliding movement in axonemes. The intermediate and light chains, thought to form the base of the dynein arm, help mediate attachment and may also participate in regulating dynein activity. This gene encodes an intermediate chain dynein, belonging to the large family of motor proteins. Mutations in this gene result in abnormal ciliary ultrastructure and function associated with primary ciliary dyskinesia (PCD) and Kartagener syndrome.
^Pennarun G, Escudier E, Chapelin C, Bridoux AM, Cacheux V, Roger G, Clement A, Goossens M, Amselem S, Duriez B (Jan 2000). "Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia". Am J Hum Genet65 (6): 1508–19. doi:10.1086/302683. PMC1288361. PMID10577904.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A.99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC139241. PMID12477932.
Ficarro S, Chertihin O, Westbrook VA, et al. (2003). "Phosphoproteome analysis of capacitated human sperm. Evidence of tyrosine phosphorylation of a kinase-anchoring protein 3 and valosin-containing protein/p97 during capacitation.". J. Biol. Chem.278 (13): 11579–89. doi:10.1074/jbc.M202325200. PMID12509440.
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. PMID14702039.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res.14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC528928. PMID15489334.
Zariwala MA, Leigh MW, Ceppa F, et al. (2006). "Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation.". Am. J. Respir. Crit. Care Med.174 (8): 858–66. doi:10.1164/rccm.200603-370OC. PMC2648054. PMID16858015.