Gene Gene information from NCBI Gene database.
Entrez ID 83544
Gene name Dynein axonemal light chain 1
Gene symbol DNAL1
Synonyms (NCBI Gene)
C14orf168CILD16LC1
Chromosome 14
Chromosome location 14q24.3
Summary This gene encodes an axonemal dynein light chain which functions as a component of the outer dynein arms complex. This complex acts as the molecular motor that provides the force to move cilia in an ATP-dependent manner. The encoded protein is expressed i
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs35284335 C>T Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
rs141873943 C>G,T Conflicting-interpretations-of-pathogenicity, likely-benign Missense variant, coding sequence variant, synonymous variant
rs387907021 A>G Pathogenic Coding sequence variant, missense variant
rs876657637 TATCTTT>- Likely-pathogenic, pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
1514
miRTarBase ID miRNA Experiments Reference
MIRT026555 hsa-miR-192-5p Microarray 19074876
MIRT043060 hsa-miR-324-5p CLASH 23622248
MIRT704168 hsa-miR-93-5p HITS-CLIP 23313552
MIRT704167 hsa-miR-519d-3p HITS-CLIP 23313552
MIRT704166 hsa-miR-106a-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 29601588, 32296183
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0005856 Component Cytoskeleton IEA
GO:0005874 Component Microtubule IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610062 23247 ENSG00000119661
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q4LDG9
Protein name Dynein axonemal light chain 1 (LC1)
Protein function 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
PDB 8J07
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in tissues carrying motile cilia such as respiratory epithelia, ependyma and testis. {ECO:0000269|PubMed:15845866}.
Sequence
MAKATTIKEALARWEEKTGQRPSEAKEIKLYAQIPPIEKMDASLSMLANCEKLSLSTNCI
EKIANLNGLKNLRILSLGRNNIKNLNGLEAVGDTLEELWISYNFIEKLKGIHIMKKLKIL
YMSNNLVKDWAEFVKLAELPCLEDLVFVGNPLEEKHSAENNWIEEATKRVPKLKKLDGTP
VIKGDEEEDN
Sequence length 190
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Motor proteins
Amyotrophic lateral sclerosis
Huntington disease
Pathways of neurodegeneration - multiple diseases
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
99
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Kartagener syndrome Pathogenic rs387907021 RCV000190934
Primary ciliary dyskinesia Likely pathogenic; Pathogenic rs876657637, rs746219926 RCV000217678
RCV003448942
Primary ciliary dyskinesia 16 Likely pathogenic; Pathogenic rs876657637, rs1252878067, rs387907021, rs1060501178, rs372572996 RCV000800978
RCV003811001
RCV000023801
RCV000462817
RCV000468574
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
DNAL1-related disorder Benign; Likely benign rs751332640, rs1595204699 RCV003957630
RCV003940377
Uterine carcinosarcoma - rs1043732 RCV006086830
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Ciliary Motility Disorders Associate 21496787, 39180133