UniProtKB - Q4LDG9 (DNAL1_HUMAN)
Protein
Dynein light chain 1, axonemal
Gene
DNAL1
Organism
Homo sapiens (Human)
Status
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 function | Motor protein |
Enzyme and pathway databases
PathwayCommonsi | Q4LDG9 |
Names & Taxonomyi
Protein namesi | Recommended name: Dynein light chain 1, axonemalShort name: LC1By similarity |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000119661.14 |
HGNCi | HGNC:23247, DNAL1 |
MIMi | 610062, gene |
neXtProti | NX_Q4LDG9 |
Subcellular locationi
Cytoskeleton
- cilium axoneme Curated
Cytoskeleton
- microtubule Source: UniProtKB-KW
- outer dynein arm Source: UniProtKB
Other locations
- cytoplasm Source: GO_Central
Keywords - Cellular componenti
Cell projection, Cytoplasm, Cytoskeleton, Dynein, MicrotubulePathology & 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_065739 | 150 | N → 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 dyskinesiaOrganism-specific databases
DisGeNETi | 83544 |
GeneReviewsi | DNAL1 |
MalaCardsi | DNAL1 |
MIMi | 614017, phenotype |
OpenTargetsi | ENSG00000119661 |
Orphaneti | 244, Primary ciliary dyskinesia |
PharmGKBi | PA162383938 |
Miscellaneous databases
Pharosi | Q4LDG9, Tbio |
Polymorphism and mutation databases
BioMutai | DNAL1 |
DMDMi | 121944344 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources | |||
ChainiPRO_0000281130 | 2 – 190 | Dynein light chain 1, axonemalAdd BLAST | 189 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylalanineCombined sources | 1 | |
Modified residuei | 56 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | Q4LDG9 |
jPOSTi | Q4LDG9 |
MassIVEi | Q4LDG9 |
MaxQBi | Q4LDG9 |
PaxDbi | Q4LDG9 |
PeptideAtlasi | Q4LDG9 |
PRIDEi | Q4LDG9 |
ProteomicsDBi | 62233 [Q4LDG9-1] 62234 [Q4LDG9-2] 62235 [Q4LDG9-3] |
PTM databases
iPTMneti | Q4LDG9 |
PhosphoSitePlusi | Q4LDG9 |
Expressioni
Tissue specificityi
Expressed in tissues carrying motile cilia such as respiratory epithelia, ependyma and testis.1 Publication
Gene expression databases
Bgeei | ENSG00000119661, Expressed in testis and 193 other tissues |
ExpressionAtlasi | Q4LDG9, baseline and differential |
Genevisiblei | Q4LDG9, HS |
Organism-specific databases
HPAi | ENSG00000119661, Tissue enhanced (testis) |
Interactioni
Subunit structurei
Binary interactionsi
Q4LDG9
With | #Exp. | IntAct |
---|---|---|
LRRC40 [Q9H9A6] | 3 | EBI-12843080,EBI-1043135 |
GO - Molecular functioni
- alpha-tubulin binding Source: UniProtKB
- dynein heavy chain binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 123677, 4 interactors |
IntActi | Q4LDG9, 3 interactors |
STRINGi | 9606.ENSP00000452037 |
Miscellaneous databases
RNActi | Q4LDG9, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 49 – 70 | LRR 1Add BLAST | 22 | |
Repeati | 71 – 92 | LRR 2Add BLAST | 22 | |
Repeati | 94 – 115 | LRR 3Add BLAST | 22 | |
Repeati | 116 – 137 | LRR 4Add BLAST | 22 | |
Domaini | 150 – 190 | LRRCTAdd BLAST | 41 |
Sequence similaritiesi
Belongs to the dynein light chain LC1-type family.Curated
Keywords - Domaini
Leucine-rich repeat, RepeatPhylogenomic databases
eggNOGi | KOG0531, Eukaryota |
GeneTreei | ENSGT00390000016904 |
HOGENOMi | CLU_092189_0_0_1 |
InParanoidi | Q4LDG9 |
OMAi | LWISYNN |
OrthoDBi | 1395642at2759 |
PhylomeDBi | Q4LDG9 |
TreeFami | TF323974 |
Family and domain databases
Gene3Di | 3.80.10.10, 1 hit |
InterProi | View protein in InterPro IPR001611, Leu-rich_rpt IPR032675, LRR_dom_sf |
PROSITEi | View protein in PROSITE PS51450, LRR, 4 hits |
s (3+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q4LDG9-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketG3V389 | G3V389_HUMAN | Dynein light chain 1, axonemal | DNAL1 | 52 | Annotation score: | ||
G3V424 | G3V424_HUMAN | Dynein light chain 1, axonemal | DNAL1 | 138 | Annotation score: | ||
H0YJD6 | H0YJD6_HUMAN | Dynein light chain 1, axonemal | DNAL1 | 67 | Annotation score: | ||
G3V2M0 | G3V2M0_HUMAN | Dynein light chain 1, axonemal | DNAL1 | 103 | Annotation score: | ||
G3V5I4 | G3V5I4_HUMAN | Dynein light chain 1, axonemal | DNAL1 | 57 | Annotation score: | ||
H0YM28 | H0YM28_HUMAN | Dynein light chain 1, axonemal | DNAL1 | 65 | Annotation score: |
Sequence cautioni
The sequence AAH05343 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_065739 | 150 | N → S in CILD16; reduced tethering interaction between DNAH5 and tubulin. 1 PublicationCorresponds to variant dbSNP:rs387907021EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_023982 | 1 – 113 | Missing in isoform 2. 1 PublicationAdd BLAST | 113 | |
Alternative sequenceiVSP_043590 | 1 – 39 | Missing in isoform 3. 1 PublicationAdd BLAST | 39 |
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. |
CCDSi | CCDS45134.1 [Q4LDG9-1] CCDS55928.1 [Q4LDG9-3] |
RefSeqi | NP_001188295.1, NM_001201366.1 [Q4LDG9-3] NP_113615.2, NM_031427.3 [Q4LDG9-1] XP_016877168.1, XM_017021679.1 [Q4LDG9-3] |
Genome annotation databases
Ensembli | ENST00000311089; ENSP00000310360; ENSG00000119661 [Q4LDG9-2] ENST00000553645; ENSP00000452037; ENSG00000119661 [Q4LDG9-1] ENST00000554871; ENSP00000451834; ENSG00000119661 [Q4LDG9-3] |
GeneIDi | 83544 |
KEGGi | hsa:83544 |
UCSCi | uc001xoq.5, human [Q4LDG9-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
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. |
CCDSi | CCDS45134.1 [Q4LDG9-1] CCDS55928.1 [Q4LDG9-3] |
RefSeqi | NP_001188295.1, NM_001201366.1 [Q4LDG9-3] NP_113615.2, NM_031427.3 [Q4LDG9-1] XP_016877168.1, XM_017021679.1 [Q4LDG9-3] |
3D structure databases
SMRi | Q4LDG9 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 123677, 4 interactors |
IntActi | Q4LDG9, 3 interactors |
STRINGi | 9606.ENSP00000452037 |
PTM databases
iPTMneti | Q4LDG9 |
PhosphoSitePlusi | Q4LDG9 |
Polymorphism and mutation databases
BioMutai | DNAL1 |
DMDMi | 121944344 |
Proteomic databases
EPDi | Q4LDG9 |
jPOSTi | Q4LDG9 |
MassIVEi | Q4LDG9 |
MaxQBi | Q4LDG9 |
PaxDbi | Q4LDG9 |
PeptideAtlasi | Q4LDG9 |
PRIDEi | Q4LDG9 |
ProteomicsDBi | 62233 [Q4LDG9-1] 62234 [Q4LDG9-2] 62235 [Q4LDG9-3] |
Protocols and materials databases
Antibodypediai | 25408, 213 antibodies |
DNASUi | 83544 |
Genome annotation databases
Ensembli | ENST00000311089; ENSP00000310360; ENSG00000119661 [Q4LDG9-2] ENST00000553645; ENSP00000452037; ENSG00000119661 [Q4LDG9-1] ENST00000554871; ENSP00000451834; ENSG00000119661 [Q4LDG9-3] |
GeneIDi | 83544 |
KEGGi | hsa:83544 |
UCSCi | uc001xoq.5, human [Q4LDG9-1] |
Organism-specific databases
CTDi | 83544 |
DisGeNETi | 83544 |
EuPathDBi | HostDB:ENSG00000119661.14 |
GeneCardsi | DNAL1 |
GeneReviewsi | DNAL1 |
HGNCi | HGNC:23247, DNAL1 |
HPAi | ENSG00000119661, Tissue enhanced (testis) |
MalaCardsi | DNAL1 |
MIMi | 610062, gene 614017, phenotype |
neXtProti | NX_Q4LDG9 |
OpenTargetsi | ENSG00000119661 |
Orphaneti | 244, Primary ciliary dyskinesia |
PharmGKBi | PA162383938 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0531, Eukaryota |
GeneTreei | ENSGT00390000016904 |
HOGENOMi | CLU_092189_0_0_1 |
InParanoidi | Q4LDG9 |
OMAi | LWISYNN |
OrthoDBi | 1395642at2759 |
PhylomeDBi | Q4LDG9 |
TreeFami | TF323974 |
Enzyme and pathway databases
PathwayCommonsi | Q4LDG9 |
Miscellaneous databases
BioGRID-ORCSi | 83544, 0 hits in 836 CRISPR screens |
ChiTaRSi | DNAL1, human |
GeneWikii | DNAL1 |
GenomeRNAii | 83544 |
Pharosi | Q4LDG9, Tbio |
PROi | PR:Q4LDG9 |
RNActi | Q4LDG9, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000119661, Expressed in testis and 193 other tissues |
ExpressionAtlasi | Q4LDG9, baseline and differential |
Genevisiblei | Q4LDG9, HS |
Family and domain databases
Gene3Di | 3.80.10.10, 1 hit |
InterProi | View protein in InterPro IPR001611, Leu-rich_rpt IPR032675, LRR_dom_sf |
PROSITEi | View protein in PROSITE PS51450, LRR, 4 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | DNAL1_HUMAN | |
Accessioni | Q4LDG9Primary (citable) accession number: Q4LDG9 Secondary accession number(s): B2RD38, Q5JPB7, Q9BS43 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 20, 2007 |
Last sequence update: | August 2, 2005 | |
Last modified: | December 2, 2020 | |
This is version 134 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 14
Human chromosome 14: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations