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Details on Person UniProt:Q4LDG9 DNAL1

Class:IdReferenceGeneProduct:227283
_chainChangeLoginitiator methionine:1 added on Sat February 7 2015;chain:2-190 added on Sat February 7 2015;initiator methionine:1 for 227283 removed on Fri Nov 03 2023;initiator methionine: for 227283 added on Fri Nov 03 2023;initiator methionine: for 227283 removed on Fri Aug 15 2025;initiator methionine:1 for 227283 added on Fri Aug 15 2025
_displayNameUniProt:Q4LDG9 DNAL1
_timestamp2025-08-15 22:00:02
chaininitiator methionine:1
chain:2-190
checksumA48EA5047F6721EE
commentFUNCTION 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).SUBUNIT Interacts with ZMYND10 (via C-terminus) (PubMed:29601588). 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).INTERACTION Expressed in tissues carrying motile cilia such as respiratory epithelia, ependyma and testis.DISEASE The disease is caused by variants affecting the gene represented in this entry.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.SIMILARITY Belongs to the dynein light chain LC1-type family.SEQUENCE CAUTION Truncated N-terminus.
created[InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53
descriptionrecommendedName: Dynein axonemal light chain 1 shortName evidence="2"LC1
geneNameDNAL1
C14orf168
identifierQ4LDG9
isSequenceChangedFALSE
keyword3D-structure
Acetylation
Alternative splicing
Cell projection
Ciliopathy
Cytoplasm
Cytoskeleton
Disease variant
Dynein
Kartagener syndrome
Leucine-rich repeat
Microtubule
Motor protein
Phosphoprotein
Primary ciliary dyskinesia
Proteomics identification
Reference proteome
Repeat
modified[InstanceEdit:9836292] Weiser, Joel, 2023-05-25
[InstanceEdit:9852000] Weiser, Joel, 2023-11-03
[InstanceEdit:9862192] Weiser, Joel, 2024-02-26
[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
[InstanceEdit:9963647] Weiser, Joel, 2025-08-15
nameDNAL1
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:8962337] ENSEMBL:ENSG00000119661 DNAL1 [Homo sapiens]
secondaryIdentifierDNAL1_HUMAN
B2RD38
Q5JPB7
Q9BS43
sequenceLength190
species[Species:48887] Homo sapiens
(isoformParent)[ReferenceIsoform:227284] UniProt:Q4LDG9-2 DNAL1 [Homo sapiens]
[ReferenceIsoform:406883] UniProt:Q4LDG9-1 DNAL1 [Homo sapiens]
[ReferenceIsoform:8966524] UniProt:Q4LDG9-3 DNAL1 [Homo sapiens]
(referenceEntity)[EntityWithAccessionedSequence:9966721] DNAL1 [cilium] [Homo sapiens]
[EntityWithAccessionedSequence:9969291] DNAL1 [cytosol] [Homo sapiens]
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No pathways have been reviewed or authored by UniProt:Q4LDG9 DNAL1 (227283)