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DNAL1
Identifiers
Aliases	DNAL1, C14orf168, CILD16, dynein axonemal light chain 1, LC1
External IDs	OMIM: 610062; MGI: 1921462; HomoloGene: 34623; GeneCards: DNAL1; OMA:DNAL1 - orthologs
Gene location (Human) Chr. Chromosome 14 (human) Band 14q24.3 Start 73,644,875 bp End 73,703,732 bp
Gene location (Mouse) Chr. Chromosome 12 (mouse) Band 12|12 D1 Start 84,161,140 bp End 84,194,272 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in buccal mucosa cell left testis right testis bronchial epithelial cell mucosa of paranasal sinus Achilles tendon corpus callosum caput epididymis islet of Langerhans internal globus pallidus Top expressed in otolith organ utricle Region I of hippocampus proper nucleus accumbens Temporal Lobe lateral septal nucleus Amygdala dorsal striatum piriform cortex prefrontal cortex More reference expression data BioGPS n/a
Gene ontology Molecular function alpha-tubulin binding dynein heavy chain binding cytoskeletal motor activity protein binding Cellular component outer dynein arm cytoplasm cytoskeleton microtubule dynein complex cell projection Biological process outer dynein arm assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 83544 105000 Ensembl ENSG00000119661 ENSMUSG00000042523 UniProt Q4LDG9 Q05A62 RefSeq (mRNA) NM_001201366 NM_031427 NM_028821 NM_001346528 RefSeq (protein) NP_001188295 NP_113615 NP_001333457 NP_083097 Location (UCSC) Chr 14: 73.64 – 73.7 Mb Chr 12: 84.16 – 84.19 Mb PubMed search
Wikidata
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Dynein axonemal light chain 1, (LC1) is a protein that in humans is encoded by the DNAL1 gene.

Function

LC1 is a component of outer dynein arms, which contain the molecular motors for ATP-dependent cilia movement.

Clinical significance

Mutations in the DNAL1 gene are associated with primary ciliary dyskinesia.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000119661 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000042523 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ "Entrez Gene: dynein".
6. ^ Horváth J, Fliegauf M, Olbrich H, Kispert A, King SM, Mitchison H, Zariwala MA, Knowles MR, Sudbrak R, Fekete G, Neesen J, Reinhardt R, Omran H (July 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. S2CID 19776274.
7. Lancaster MA, Gleeson JG (June 2009). "The primary cilium as a cellular signaling center: lessons from disease". Curr. Opin. Genet. Dev. 19 (3): 220–9. doi:10.1016/j.gde.2009.04.008. PMC 2953615. PMID 19477114.

External links

• GeneReviews/NCBI/NIH/UW entry on Primary Ciliary Dyskinesia

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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