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Protein

Dynein light chain 1, axonemal

Gene

DNAL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Part of the multisubunit axonemal ATPase complexes that generate the force for cilia motility and govern beat frequency (By similarity). Component of the outer arm dynein (ODA). May be involved in a mechanosensory feedback mechanism controlling ODA activity based on external conformational cues by tethering the outer arm dynein heavy chain (DNAH5) to the microtubule within the axoneme (By similarity). Important for ciliary function in the airways and for the function of the cilia that produce the nodal flow essential for the determination of the left-right asymmetry (PubMed:21496787).1 PublicationBy similarity

Miscellaneous

Outer (ODAs) and inner (IDAs) dynein arms contain the molecular motors that generate the force to move cilia by ATP-dependent reactions. There are two mechanosensory systems that monitor and respond to the mechanical state (curvature) of the axoneme. One system involves the central pair microtubule complex and radial spokes and the second system involves the outer dynein arms.By similarity

GO - Molecular functioni

  • alpha-tubulin binding Source: UniProtKB
  • dynein heavy chain binding Source: UniProtKB
  • motor activity Source: UniProtKB-KW

GO - Biological processi

  • outer dynein arm assembly Source: UniProtKB

Keywordsi

Molecular functionMotor protein

Names & Taxonomyi

Protein namesi
Recommended name:
Dynein light chain 1, axonemal
Short name:
LC1By similarity
Gene namesi
Name:DNAL1Imported
Synonyms:C14orf168
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000119661.14
HGNCiHGNC:23247 DNAL1
MIMi610062 gene
neXtProtiNX_Q4LDG9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton, Dynein, Microtubule

Pathology & Biotechi

Involvement in diseasei

Ciliary dyskinesia, primary, 16 (CILD16)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
See also OMIM:614017
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065739150N → S in CILD16; reduced tethering interaction between DNAH5 and tubulin. 1 PublicationCorresponds to variant dbSNP:rs387907021EnsemblClinVar.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Kartagener syndrome, Primary ciliary dyskinesia

Organism-specific databases

DisGeNETi83544
GeneReviewsiDNAL1
MalaCardsiDNAL1
MIMi614017 phenotype
OpenTargetsiENSG00000119661
Orphaneti244 Primary ciliary dyskinesia
PharmGKBiPA162383938

Polymorphism and mutation databases

BioMutaiDNAL1
DMDMi121944344

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00002811302 – 190Dynein light chain 1, axonemalAdd BLAST189

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei56PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ4LDG9
MaxQBiQ4LDG9
PaxDbiQ4LDG9
PeptideAtlasiQ4LDG9
PRIDEiQ4LDG9
ProteomicsDBi62233
62234 [Q4LDG9-2]
62235 [Q4LDG9-3]

PTM databases

iPTMnetiQ4LDG9
PhosphoSitePlusiQ4LDG9

Expressioni

Tissue specificityi

Expressed in tissues carrying motile cilia such as respiratory epithelia, ependyma and testis.1 Publication

Gene expression databases

BgeeiENSG00000119661
CleanExiHS_DNAL1
ExpressionAtlasiQ4LDG9 baseline and differential
GenevisibleiQ4LDG9 HS

Organism-specific databases

HPAiHPA053129

Interactioni

Subunit structurei

Interacts with DNAH5, a outer arm dynein heavy chain (PubMed:15845866, PubMed:21496787). Interacts with tubulin located within the A-tubule of the outer doublets in a ATP-independent manner (PubMed:21496787).2 Publications

GO - Molecular functioni

  • alpha-tubulin binding Source: UniProtKB
  • dynein heavy chain binding Source: UniProtKB

Protein-protein interaction databases

BioGridi123677, 2 interactors
IntActiQ4LDG9, 1 interactor
STRINGi9606.ENSP00000452037

Structurei

3D structure databases

ProteinModelPortaliQ4LDG9
SMRiQ4LDG9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati49 – 70LRR 1Add BLAST22
Repeati71 – 92LRR 2Add BLAST22
Repeati94 – 115LRR 3Add BLAST22
Repeati116 – 137LRR 4Add BLAST22
Domaini150 – 190LRRCTAdd BLAST41

Sequence similaritiesi

Belongs to the dynein light chain LC1-type family.Curated

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

eggNOGiKOG0531 Eukaryota
COG4886 LUCA
GeneTreeiENSGT00390000016904
HOGENOMiHOG000230603
HOVERGENiHBG081457
InParanoidiQ4LDG9
KOiK10411
OMAiLWISYNN
OrthoDBiEOG091G0P8H
PhylomeDBiQ4LDG9
TreeFamiTF323974

Family and domain databases

Gene3Di3.80.10.10, 1 hit
InterProiView protein in InterPro
IPR001611 Leu-rich_rpt
IPR032675 LRR_dom_sf
PROSITEiView protein in PROSITE
PS51450 LRR, 4 hits

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q4LDG9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAKATTIKEA LARWEEKTGQ RPSEAKEIKL YAQIPPIEKM DASLSMLANC
60 70 80 90 100
EKLSLSTNCI EKIANLNGLK NLRILSLGRN NIKNLNGLEA VGDTLEELWI
110 120 130 140 150
SYNFIEKLKG IHIMKKLKIL YMSNNLVKDW AEFVKLAELP CLEDLVFVGN
160 170 180 190
PLEEKHSAEN NWIEEATKRV PKLKKLDGTP VIKGDEEEDN
Length:190
Mass (Da):21,533
Last modified:August 2, 2005 - v1
Checksum:iA48EA5047F6721EE
GO
Isoform 2 (identifier: Q4LDG9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-113: Missing.

Note: No experimental confirmation available.
Show »
Length:77
Mass (Da):8,883
Checksum:i7542BC929DB174F8
GO
Isoform 3 (identifier: Q4LDG9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-39: Missing.

Note: No experimental confirmation available.
Show »
Length:151
Mass (Da):17,096
Checksum:i446438FE7E6C5911
GO

Sequence cautioni

The sequence AAH05343 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065739150N → S in CILD16; reduced tethering interaction between DNAH5 and tubulin. 1 PublicationCorresponds to variant dbSNP:rs387907021EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0239821 – 113Missing in isoform 2. 1 PublicationAdd BLAST113
Alternative sequenceiVSP_0435901 – 39Missing in isoform 3. 1 PublicationAdd BLAST39

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF542071 mRNA Translation: AAQ11377.1
AK315392 mRNA Translation: BAG37785.1
AL833654 mRNA Translation: CAI46147.1
AC005225 Genomic DNA No translation available.
AC006146 Genomic DNA No translation available.
BC005343 mRNA Translation: AAH05343.1 Different initiation.
CCDSiCCDS45134.1 [Q4LDG9-1]
CCDS55928.1 [Q4LDG9-3]
RefSeqiNP_001188295.1, NM_001201366.1 [Q4LDG9-3]
NP_113615.2, NM_031427.3 [Q4LDG9-1]
XP_016877168.1, XM_017021679.1 [Q4LDG9-3]
UniGeneiHs.271270

Genome annotation databases

EnsembliENST00000311089; ENSP00000310360; ENSG00000119661 [Q4LDG9-2]
ENST00000553645; ENSP00000452037; ENSG00000119661 [Q4LDG9-1]
ENST00000554871; ENSP00000451834; ENSG00000119661 [Q4LDG9-3]
GeneIDi83544
KEGGihsa:83544
UCSCiuc001xoq.5 human [Q4LDG9-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiDNAL1_HUMAN
AccessioniPrimary (citable) accession number: Q4LDG9
Secondary accession number(s): B2RD38, Q5JPB7, Q9BS43
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: August 2, 2005
Last modified: June 20, 2018
This is version 117 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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