Dynein axonemal light chain 1

DNAL1
Identifiers
Aliases	DNAL1 , C14orf168, CILD16, dynein axonemal light chain 1, LC1
External IDs	OMIM: 610062 MGI: 1921462 HomoloGene: 34623 GeneCards: DNAL1
Gene location (Human)
Chr.	Chromosome 14 (human)
End	73,703,732 bp
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)
End	84,194,272 bp
RNA expression pattern
	Top expressed in
	bronchial epithelial cell; ; Achilles tendon; ; corpus callosum; ; caput epididymis; ; islet of Langerhans; ; internal globus pallidus; ; corpus epididymis; ; right uterine tube; ; cerebellar vermis; ; prefrontal cortex;
	More reference expression data
	n/a
Gene ontology
Molecular function	alpha-tubulin binding ; dynein heavy chain binding ; cytoskeletal motor activity ; GO:0001948 protein binding ;
Cellular component	outer dynein arm ; cytoplasm ; cytoskeleton ; microtubule ; dynein complex ; cell projection ;
Biological process	outer dynein arm assembly ;
	Sources:Amigo / QuickGO
Orthologs
	83544
	105000
	ENSG00000119661
	ENSMUSG00000042523
	Q4LDG9
	Q05A62
	NM_001201366 ; NM_031427
	NM_028821 ; NM_001346528
	NP_001188295 ; NP_113615
	NP_001333457 ; NP_083097
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated May 04, 2022

Dynein axonemal light chain 1, (LC1) is a protein that in humans is encoded by the DNAL1 gene.^[5]^[6]

Function

LC1 is a component of outer dynein arms, which contain the molecular motors for ATP-dependent cilia movement.^[5]^[6]

Clinical significance

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

Related Research Articles

Cytoplasmic dynein 1 heavy chain 1 is a protein that in humans is encoded by the DYNC1H1 gene.

Cytoplasmic dynein 1 intermediate chain 1 is a protein that in humans is encoded by the DYNC1I1 gene.

Cytoplasmic dynein 2 heavy chain 1 is a protein that in humans is encoded by the DYNC2H1 gene.

Dynein axonemal heavy chain 5 is a protein that in humans is encoded by the DNAH5 gene.

Dynein heavy chain 9, axonemal is a protein that in humans is encoded by the DNAH9 gene.

Dynein axonemal intermediate chain 1 is a protein that in humans is encoded by the DNAI1 gene.

Cytoplasmic dynein 1 light intermediate chain 1 is a protein that in humans is encoded by the DYNC1LI1 gene.

Dynein light chain 4, axonemal is a protein that in humans is encoded by the DNAL4 gene.

Dynein heavy chain 11, axonemal is a protein that in humans is encoded by the DNAH11 gene.

Leucine-rich repeat-containing protein 50 is a protein that in humans is encoded by the LRRC50 gene.

Radial spoke head protein 4 homolog A, also known as radial spoke head-like protein 3, is a protein that in humans is encoded by the RSPH4A gene.

Dynein axonemal intermediate chain 2 also known as axonemal dynein intermediate chain 2, is a protein that in humans is encoded by the DNAI2 gene.

Thioredoxin domain-containing protein 3 (TXNDC3), also known as spermatid-specific thioredoxin-2 (Sptrx-2), is a protein that in humans is encoded by the NME8 gene on chromosome 7.

Kintoun, is a protein that is encoded by the DNAAF2 gene.

Radial spoke head 1 homolog (RSPH1), also known as cancer/testis antigen 79 (CT79) or testis-specific gene A2 protein (TSGA2), is a protein that in humans is encoded by the RSPH1 gene.

Dynein, axonemal, heavy chain 7 is a protein in humans that is encoded by the DNAH7 gene.

Dynein, axonemal, heavy chain 14 is a protein that in humans is encoded by the DNAH14 gene.

CCDC40 is the gene in humans that encodes the protein named coiled-coil domain containing 40.

Coiled-coil domain containing 151 is a protein that in humans is encoded by the CCDC151 gene.

Dynein axonemal heavy chain 1 is a protein that in humans is encoded by the DNAH1 gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000119661 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000042523 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
1 2 "Entrez Gene: dynein".
1 2 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.
↑ 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.

This article on a gene on human chromosome 14 is a stub. You can help Wikipedia by expanding it.

This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000119661 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[entrez-5] 1 2 "Entrez Gene: dynein".

[pmid15845866-6] 1 2 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.

[pmid19477114-7] 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.

[1]

[2]

[3]

[4]

[5]

[6]

[7]

v t e 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	cytoplasm KTU nucleus GLIS2 intraflagellar transport IFT80 other AHI1 ARL13B BRCC3 INPP5E KIF3A LRRC50 SDCCAG8 TMEM216 TXNDC3
see also: ciliopathy