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Aliases for DNAL1 Gene

Aliases for DNAL1 Gene

  • Dynein Axonemal Light Chain 1 2 3 5
  • C14orf168 3 4
  • LC1 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 Ciliary Dyskinesia, Primary, 1. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins..

UniProtKB/Swiss-Prot for DNAL1 Gene

  • 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).

Gene Wiki entry for DNAL1 Gene

Additional gene information for DNAL1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAL1 Gene

Genomics for DNAL1 Gene

GeneHancer (GH) Regulatory Elements for DNAL1 Gene

Promoters and enhancers for DNAL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14I073643 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 -0.2 -179 1.9 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF48 YY1 ZNF121 DNAL1 PNMA1 LOC100506476 ENSG00000258603
GH14I073650 Promoter 0.5 EPDnew 550.4 +6.1 6057 0.1 DNAL1 RNU6-240P
GH14I073135 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 15.2 -507.8 -507846 2.4 HDGF PKNOX1 ATF1 ZFP64 ARID4B SIN3A DMAP1 BRCA1 ZNF48 ETS1 PSEN1 RBM25 ELMSAN1 LOC101928123 PNMA1 ENSG00000258891 DNAL1 LIN52 ZNF410 ENSG00000258443
GH14I073748 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 8.4 +112.8 112751 17.4 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 ZNF143 SP3 ELMSAN1 MIR4505 GC14P073756 ZNF410 PNMA1 RBM25 LOC100506476 NUMB FCF1 PTGR2
GH14I074591 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 15.2 +951.4 951355 9.5 TFAP4 KLF1 SAP130 ZFP64 ZNF48 ZNF697 RELA ZFHX2 GLIS2 POLR2A PNMA1 ELMSAN1 DNAL1 LIN52 ENSG00000258559 ZNF410 ABCD4 MLH3 NEK9 AREL1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DNAL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DNAL1 gene promoter:

Genomic Locations for DNAL1 Gene

Genomic Locations for DNAL1 Gene
chr14:73,644,875-73,703,732
(GRCh38/hg38)
Size:
58,858 bases
Orientation:
Plus strand
chr14:74,111,578-74,170,435
(GRCh37/hg19)

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:
    Q4LDG9-DNAL1_HUMAN
    Recommended name:
    Dynein light chain 1, axonemal
    Protein Accession:
    Q4LDG9
    Secondary Accessions:
    • B2RD38
    • Q5JPB7
    • Q9BS43

    Protein attributes for DNAL1 Gene

    Size:
    190 amino acids
    Molecular mass:
    21533 Da
    Quaternary structure:
    • 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).
    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.
    SequenceCaution:
    • Sequence=AAH05343.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for DNAL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNAL1 Gene

Post-translational modifications for DNAL1 Gene

No Post-translational modifications

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DNAL1 Gene

Graphical View of Domain Structure for InterPro Entry

Q4LDG9

UniProtKB/Swiss-Prot:

DNAL1_HUMAN :
  • Belongs to the dynein light chain LC1-type family.
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
UniProtKB/Swiss-Prot 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 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).

Phenotypes From GWAS Catalog for DNAL1 Gene

Gene Ontology (GO) - Molecular Function for DNAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity IEA --
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 UniProtKB/Swiss-Prot for DNAL1 Gene

Cytoplasm, cytoskeleton, cilium axoneme.

Subcellular locations from

COMPARTMENTS
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:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA --
GO:0030286 dynein complex IEA --
GO:0036157 outer dynein arm ISS 15845866
genes like me logo Genes that share ontologies with DNAL1: view

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
DNAL1
ECgene alternative splicing isoforms for
DNAL1

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:

DNAL1

SOURCE GeneReport for Unigene cluster for DNAL1 Gene:

Hs.271270

mRNA Expression by UniProt/SwissProt for DNAL1 Gene:

Q4LDG9-DNAL1_HUMAN
Tissue specificity: Expressed in tissues carrying motile cilia such as respiratory epithelia, ependyma and 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
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • head
  • larynx
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • pharynx
  • sinus
  • skull
Thorax:
  • bronchus
  • lung
  • trachea
Abdomen:
  • spleen
Pelvis:
  • ovary
  • testicle
General:
  • 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
chimpanzee
(Pan troglodytes)
Mammalia DNAL1 33 34
  • 99.82 (n)
cow
(Bos Taurus)
Mammalia DNAL1 33 34
  • 94.21 (n)
dog
(Canis familiaris)
Mammalia DNAL1 33 34
  • 93.81 (n)
rat
(Rattus norvegicus)
Mammalia Dnal1 33
  • 88.77 (n)
mouse
(Mus musculus)
Mammalia Dnal1 33 16 34
  • 88.6 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 85 (a)
OneToMany
-- 34
  • 69 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia DNAL1 34
  • 36 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNAL1 33 34
  • 80.6 (n)
lizard
(Anolis carolinensis)
Reptilia DNAL1 34
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnal1 33
  • 74.91 (n)
zebrafish
(Danio rerio)
Actinopterygii DNAL1 (2 of 2) 34
  • 78 (a)
OneToMany
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)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 76 (a)
OneToOne
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

ENSEMBL:
Gene Tree for DNAL1 (if available)
TreeFam:
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 Variation AA Info Type
rs1029086516 uncertain-significance, Primary ciliary dyskinesia 73,701,905(+) G/C 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1030845019 uncertain-significance, Primary ciliary dyskinesia 73,697,910(+) C/T 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs1043732 benign, Primary ciliary dyskinesia 73,701,922(+) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1048185725 uncertain-significance, Primary ciliary dyskinesia 73,697,568(+) C/A/T 3_prime_UTR_variant
rs1050095195 uncertain-significance, Primary ciliary dyskinesia 73,702,190(+) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant

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)

Additional Variant Information for DNAL1 Gene

Human Gene Mutation Database (HGMD)
DNAL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNAL1

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

Disorders for DNAL1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 16
  • cild16
ciliary dyskinesia, primary, 1
  • pcd
kartagener syndrome
  • kartagener's syndrome
primary ciliary dyskinesia
  • ciliary motility disorder
- elite association - COSMIC cancer census association via MalaCards
Search DNAL1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DNAL1_HUMAN
  • 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.

Additional Disease Information for DNAL1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 58
  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 58
  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 44 58
  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 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for DNAL1 Gene

Sources for DNAL1 Gene

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