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Aliases for DNAL1 Gene

Aliases for DNAL1 Gene

  • Dynein Axonemal Light Chain 1 2 3 5
  • C14orf168 3 4
  • Chromosome 14 Open Reading Frame 168 2
  • Dynein Light Chain 1, Axonemal 3
  • CILD16 3

External Ids for DNAL1 Gene

Previous HGNC Symbols for DNAL1 Gene

  • C14orf168

Previous GeneCards Identifiers for DNAL1 Gene

  • GC14P073183
  • GC14P074111
  • GC14P054279

Summaries for DNAL1 Gene

Entrez Gene Summary for DNAL1 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 in tissues with motile cilia or flagella and may be involved in the movement of sperm flagella. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]

GeneCards Summary for DNAL1 Gene

DNAL1 (Dynein Axonemal Light Chain 1) is a Protein Coding gene. Diseases associated with DNAL1 include Ciliary Dyskinesia, Primary, 16 and Kartagener Syndrome. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins..

Gene Wiki entry for DNAL1 Gene

Additional gene information for DNAL1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAL1 Gene

Genomics for DNAL1 Gene

Regulatory Elements for DNAL1 Gene

Enhancers for DNAL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14H074591 1.6 FANTOM5 Ensembl ENCODE dbSUPER 15.2 +951.4 951355 9.5 TFAP4 KLF1 SAP130 ZFP64 ZNF697 RELA ZFHX2 GLIS2 POLR2A IKZF2 PNMA1 DNAL1 LIN52 AREL1 NPC2 LTBP2 LOC101928352 ENSG00000258425
GH14H073696 1.4 Ensembl ENCODE dbSUPER 13.2 +51.9 51909 1.5 PKNOX1 BMI1 BATF FOS ATF7 RUNX3 IKZF2 CREM CBFB JUNB DNAL1 LOC100506476 PNMA1 ENSG00000258660 RNU6-240P
GH14H073717 1.3 Ensembl ENCODE dbSUPER 13 +73.9 73872 2.9 MXI1 NFIB ZNF195 ZFHX2 ZNF776 LCORL POLR2A ZNF350 HNF4G RCOR1 RBM25 ENSG00000258559 NT5CP1 DNAL1 ABCD4 PNMA1 ZNF410 ELMSAN1 LOC100506476 ACOT1
GH14H073135 1 ENCODE 15.2 -507.8 -507846 2.4 HDGF PKNOX1 ATF1 ZFP64 ARID4B SIN3A DMAP1 BRCA1 ETS1 ELK1 RBM25 LOC101928123 PNMA1 ENSG00000258891 DNAL1 LIN52 ENSG00000258443 PAPLN ELMSAN1 ENSG00000258695
GH14H073793 1.5 Ensembl ENCODE dbSUPER 10.1 +151.1 151068 4.2 PKNOX1 FOXA2 ARID4B DMAP1 YY1 ATF7 FOS DEK SP5 MIER2 LOC100506476 PTGR2 LINC02274 ENSG00000223300 PNMA1 DNAL1 GC14P073803 ELMSAN1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DNAL1 on UCSC Golden Path with GeneCards custom track

Promoters for DNAL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000070654 25 1401 HDGF ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 ELK1 ZNF143 RUNX3

Genomic Locations for DNAL1 Gene

Genomic Locations for DNAL1 Gene
58,858 bases
Plus strand

Genomic View for DNAL1 Gene

Genes around DNAL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAL1 Gene

Proteins for DNAL1 Gene

  • Protein details for DNAL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Dynein light chain 1, axonemal
    Protein Accession:
    Secondary Accessions:
    • B2RD38
    • Q5JPB7
    • Q9BS43

    Protein attributes for DNAL1 Gene

    190 amino acids
    Molecular mass:
    21533 Da
    Quaternary structure:
    • Interacts with DNAH5.
    • Sequence=AAH05343.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for DNAL1 Gene


neXtProt entry for DNAL1 Gene

Post-translational modifications for DNAL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DNAL1 Gene

Domains & Families for DNAL1 Gene

Gene Families for DNAL1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for DNAL1 Gene


Suggested Antigen Peptide Sequences for DNAL1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the dynein light chain LC1-type family.
  • Belongs to the dynein light chain LC1-type family.
genes like me logo Genes that share domains with DNAL1: view

Function for DNAL1 Gene

Molecular function for DNAL1 Gene

GENATLAS Biochemistry:
dynein,axonemal,motor protein interacting with microtubules,light chain 1,inner arm,of unknown function,essential for motility of cilia and flagella,expressed in testis

Phenotypes From GWAS Catalog for DNAL1 Gene

Gene Ontology (GO) - Molecular Function for DNAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043014 alpha-tubulin binding IMP 21496787
GO:0045504 dynein heavy chain binding IMP 21496787
genes like me logo Genes that share ontologies with DNAL1: view
genes like me logo Genes that share phenotypes with DNAL1: view

Human Phenotype Ontology for DNAL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DNAL1 Gene

MGI Knock Outs for DNAL1:

miRNA for DNAL1 Gene

miRTarBase miRNAs that target DNAL1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DNAL1 Gene

Localization for DNAL1 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DNAL1 gene
Compartment Confidence
cytoskeleton 5
nucleus 3
plasma membrane 2
cytosol 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubule organizing center (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DNAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0036157 outer dynein arm ISS 15845866
genes like me logo Genes that share ontologies with DNAL1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for DNAL1 Gene

Pathways & Interactions for DNAL1 Gene

genes like me logo Genes that share pathways with DNAL1: view

Pathways by source for DNAL1 Gene

1 KEGG pathway for DNAL1 Gene

Gene Ontology (GO) - Biological Process for DNAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0036158 outer dynein arm assembly IMP 21496787
genes like me logo Genes that share ontologies with DNAL1: view

No data available for SIGNOR curated interactions for DNAL1 Gene

Drugs & Compounds for DNAL1 Gene

No Compound Related Data Available

Transcripts for DNAL1 Gene

Unigene Clusters for DNAL1 Gene

Dynein, axonemal, light chain 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DNAL1 Gene

No ASD Table

Relevant External Links for DNAL1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DNAL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DNAL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DNAL1 Gene

This gene is overexpressed in Testis (x4.6).

Protein differential expression in normal tissues from HIPED for DNAL1 Gene

This gene is overexpressed in Testis (40.8) and Frontal cortex (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DNAL1 Gene

Protein tissue co-expression partners for DNAL1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DNAL1 Gene:


SOURCE GeneReport for Unigene cluster for DNAL1 Gene:


mRNA Expression by UniProt/SwissProt for DNAL1 Gene:

Tissue specificity: Expressed in tissues carrying motile cilia such as testis.

Evidence on tissue expression from TISSUES for DNAL1 Gene

  • Nervous system(4.5)
  • Lymph node(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DNAL1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeleton
  • urinary
Head and neck:
  • brain
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • head
  • larynx
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • pharynx
  • sinus
  • skull
  • bronchus
  • lung
  • trachea
  • spleen
  • ovary
  • testicle
  • blood
  • blood vessel
  • peripheral nervous system
  • white blood cell
genes like me logo Genes that share expression patterns with DNAL1: view

Orthologs for DNAL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DNAL1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DNAL1 33 34
  • 99.82 (n)
(Bos Taurus)
Mammalia DNAL1 33 34
  • 94.21 (n)
(Canis familiaris)
Mammalia DNAL1 33 34
  • 93.81 (n)
(Rattus norvegicus)
Mammalia Dnal1 33
  • 88.77 (n)
(Mus musculus)
Mammalia Dnal1 33 16 34
  • 88.6 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 85 (a)
-- 34
  • 69 (a)
(Monodelphis domestica)
Mammalia DNAL1 34
  • 36 (a)
(Gallus gallus)
Aves DNAL1 33 34
  • 80.6 (n)
(Anolis carolinensis)
Reptilia DNAL1 34
  • 88 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia dnal1 33
  • 74.91 (n)
(Danio rerio)
Actinopterygii DNAL1 (2 of 2) 34
  • 78 (a)
dnal1 33 34
  • 73.37 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004416 33
  • 59.61 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8800 33
  • 55.61 (n)
CG10839 34
  • 53 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 76 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14200 33
Species where no ortholog for DNAL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DNAL1 Gene

Gene Tree for DNAL1 (if available)
Gene Tree for DNAL1 (if available)

Paralogs for DNAL1 Gene

(3) SIMAP similar genes for DNAL1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with DNAL1: view

No data available for Paralogs for DNAL1 Gene

Variants for DNAL1 Gene

Sequence variations from dbSNP and Humsavar for DNAL1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs387907021 Pathogenic, Ciliary dyskinesia, primary, 16 (CILD16) [MIM:614017] 73,689,432(+) AGGCA(A/G)TCCCT reference, missense
rs876657637 Likely pathogenic 73,671,557(+) GATAT(-/TATCTTT)AGGAA reference, frameshift-variant
rs10594595 Likely benign 73,701,957(+) TTTGT(-/AA)AAAAA utr-variant-3-prime
rs1065389 Likely benign 73,702,812(+) ACATT(C/T)CTTGC utr-variant-3-prime
rs111888281 Likely benign 73,702,214(+) CGGCT(C/T)ACTGC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for DNAL1 Gene

Variant ID Type Subtype PubMed ID
nsv832828 CNV gain+loss 17160897
nsv428295 CNV gain 18775914
nsv1053281 CNV gain 25217958
nsv1035460 CNV gain 25217958
esv3892564 CNV loss 25118596
esv3892563 CNV loss 25118596
esv3634917 CNV loss 21293372
esv2759996 CNV gain 17122850

Variation tolerance for DNAL1 Gene

Residual Variation Intolerance Score: 57.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.81; 16.96% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DNAL1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAL1 Gene

Disorders for DNAL1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for DNAL1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search DNAL1 in MalaCards View complete list of genes associated with diseases


  • Ciliary dyskinesia, primary, 16 (CILD16) [MIM:614017]: A 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. {ECO:0000269 PubMed:21496787}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DNAL1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with DNAL1: view

No data available for Genatlas for DNAL1 Gene

Publications for DNAL1 Gene

  1. Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients. (PMID: 15845866) Horváth J … Omran H (American journal of respiratory cell and molecular biology 2005) 2 3 4 22 60
  2. Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1. (PMID: 21496787) Mazor M … Parvari R (American journal of human genetics 2011) 3 4 60
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for DNAL1 Gene

Sources for DNAL1 Gene

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