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(Top) 1 Function 2 Clinical significance 3 References 4 External links

Dynein axonemal light chain 1

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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)^[1]

Band	14q24.3	Start	73,644,875 bp^[1]
Band	14q24.3	End	73,703,732 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 12 (mouse)^[2]

Band	12\|12 D1	Start	84,161,140 bp^[2]
Band	12\|12 D1	End	84,194,272 bp^[2]

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

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

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

Function[edit]

LC1 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]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000119661 – Ensembl, May 2017

^ ^a ^b ^c 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.

^ ^a ^b "Entrez Gene: dynein".

^ ^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. S2CID 19776274.

^ 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[edit]

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

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

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.

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