Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
83544
Gene name Gene Name - the full gene name approved by the HGNC.
Dynein axonemal light chain 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DNAL1
Synonyms (NCBI Gene) Gene synonyms aliases
C14orf168, CILD16, LC1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CILD16
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q24.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003774 Function Motor activity IEA
GO:0005515 Function Protein binding IPI 29601588, 32296183
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005874 Component Microtubule IEA
GO:0036157 Component Outer dynein arm ISS 15845866
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610062 23247 ENSG00000119661
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Bronchiectasis Bronchiectasis rs121908758, rs121908811, rs76649725, rs267606722, rs121909008, rs387906360, rs387906361, rs80034486, rs74767530, rs121908776, rs121909012, rs77646904, rs121908754, rs121909015, rs121909016
View all (214 more)
Ciliary dyskinesia Ciliary Motility Disorders, CILIARY DYSKINESIA, PRIMARY, 16, Primary Ciliary Dyskinesia, Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus, Primary ciliary dyskinesia rs397515339, rs267607225, rs267607226, rs786205052, rs267607227, rs118204041, rs118204042, rs118204043, rs137853191, rs121434369, rs397515565, rs397515358, rs137852998, rs397515363, rs79833450
View all (813 more)
21496787
Corneal dystrophy Corneal dystrophy rs121909212, rs121909214, rs760714959, rs766305306, rs1554579819, rs1554579832, rs1554579878
Hearing loss Conductive hearing loss rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma ClinVar
Otitis media Otitis Media with Effusion, Chronic otitis media ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Ciliary Motility Disorders Associate 21496787, 39180133