DNAL1

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DNAL1
Identifiers
AliasesDNAL1, C14orf168, CILD16, dynein axonemal light chain 1, LC1
External IDsOMIM: 610062 MGI: 1921462 HomoloGene: 34623 GeneCards: DNAL1
Gene location (Human)
Chromosome 14 (human)
Chr.Chromosome 14 (human)[1]
Chromosome 14 (human)
Genomic location for DNAL1
Genomic location for DNAL1
Band14q24.3Start73,644,875 bp[1]
End73,703,732 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 12: 84.11 – 84.15 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Dynein light chain 1, axonemal is a protein that in humans is encoded by the DNAL1 gene.[5][6]

Function[edit]

DNAL1 is a component of outer dynein arms, which contain the molecular motors for ATP-dependent cilia movement.[5][6]

Clinical significance[edit]

Mutations in the DNAL1 gene are associated with primary ciliary dyskinesia.[7]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000119661 - Ensembl, May 2017
  2. ^ a b c 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. ^ a b "Entrez Gene: dynein".
  6. ^ a b 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.
  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.

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

External links[edit]