DNAL1

Dynein, axonemal, light chain 1
Identifiers
Symbols DNAL1; C14orf168; MGC12435
External IDs OMIM: 610062 MGI: 1921462 HomoloGene: 34623 GeneCards: DNAL1 Gene
Orthologs
Species Human Mouse
Entrez 83544 105000
Ensembl ENSG00000119661 ENSMUSG00000042523
UniProt Q4LDG9 Q05A62
RefSeq (mRNA) NM_001201366.1 NM_028821.3
RefSeq (protein) NP_001188295.1 NP_083097.2
Location (UCSC) Chr 14:
74.11 – 74.17 Mb		 Chr 12:
85.46 – 85.49 Mb
PubMed search [1] [2]

Dynein light chain 1, axonemal is a protein that in humans is encoded by the DNAL1 gene.[1][2]

Contents

Function

DNAL1 is a component of outer dynein arms, which contain the molecular motors for ATP-dependent cilia movement.[1][2]

Clinical significance

Mutations in the DNAL1 gene are associated with primary ciliary dyskinesia.[3]

References

  1. ^ a b "Entrez Gene: dynein". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=83544. 
  2. ^ 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. 
  3. ^ 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. http://linkinghub.elsevier.com/retrieve/pii/S0959-437X(09)00086-0. 

External links

Ciliary proteins
Nephrocystin
NPHP1 · INVS · NPHP3 · NPHP4 · IQCB1 · CEP290 · GLIS2 · RPGRIP1L
Basal body

BBsome: BBS1 · BBS2 · BBS4 · BBS5 · BBS7 · TTC8 · BBS9

chaperone: MKKS · BBS10 · BBS12

Other: ARL6 · TRIM32 · ALMS1 · CC2D2A · CEP290 · MKS1 · RPGRIP1L · OFD1 · AHI1 · INVS · NPHP4 · NEK8 · NPHP1
Cilia

connecting cilia: LCA5 · RP1 · RPGR · RPGRIP1 · TULP1

primary cilia: ARL13B · INPP5E · IQCB1 · PKHD1 · PKD1 · PKD2 · TMEM67
Dynein

outer dynein arms: DNAH5 · DNAI2 · DNAL1

axoneme: DNAH11 · DNAI1
Radial spokes
RSPH1 · RSPH3 · RSPH4A · RSPH6A · RSPH9 · RSPH10B
Other
see also ciliopathy
B strc: edmb (perx), skel (ctrs), epit, cili, mito, nucl (chro)

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