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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 Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus. 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

No data available for 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
GH14F073696 1 Ensembl ENCODE 13.2 +51.9 51909 1.5 PKNOX1 MXI1 BMI1 GATA3 EED FOS FOSL2 CREM NFE2L2 MTA2 DNAL1 LOC100506476 PNMA1 ENSG00000258660 RNU6-240P
GH14F073717 1.2 Ensembl ENCODE 13 +73.9 73871 2.9 L3MBTL2 NR2F2 ZNF121 JUND ZFHX2 POLR2A HNF4G ZBTB33 EGR2 DNAL1 PNMA1 LOC100506476 ACOT1 NT5CP2 GC14P073756
GH14F073793 1 Ensembl ENCODE 10.1 +151.1 151068 4.2 PKNOX1 ARID4B DMAP1 ZNF48 YY1 FOS DEK ZNF263 SP5 MIER2 LOC100506476 PTGR2 LOC100506498 ENSG00000223300 PNMA1 DNAL1 ELMSAN1 GC14P073803
GH14F073748 1.1 FANTOM5 ENCODE 8.4 +112.8 112751 17.4 HDGF PKNOX1 MLX WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ELMSAN1 PNMA1 ZNF410 LOC100420966 LOC100506476 FCF1 RBM25 PTGR2 ENSG00000223300 ENSG00000259005
GH14F073722 0.5 Ensembl ENCODE 6.9 +82.1 82131 8.8 HDGF PKNOX1 ARID4B SIN3A FEZF1 YY1 ZNF143 FOS DEK REST PNMA1 ELMSAN1 ACOT1 LOC100506476 DNAL1 ENSG00000258695 GC14P073756
- Elite enhancer/Elite enhancer-gene association Download Table
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
ENSR00000420730 25 1401 HDGF PKNOX1 ZNF493 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1

Genomic Location for DNAL1 Gene

Chromosome:
14
Start:
73,644,875 bp from pter
End:
73,703,732 bp from pter
Size:
58,858 bases
Orientation:
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:
    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.
    SequenceCaution:
    • Sequence=AAH05343.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for DNAL1 Gene

    UniProtKB/Swiss-Prot:

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

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 :
  • Contains 1 LRRCT domain.
  • Belongs to the dynein light chain LC1-type family.
  • Contains 4 LRR (leucine-rich) repeats.
Domain:
  • Contains 1 LRRCT domain.
Family:
  • Belongs to the dynein light chain LC1-type family.
Similarity:
  • Contains 4 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with DNAL1: view

No data available for Gene Families for DNAL1 Gene

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
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:

Animal Model Products

miRNA for DNAL1 Gene

miRTarBase miRNAs that target DNAL1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for DNAL1 Gene

Localization for DNAL1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DNAL1 Gene COMPARTMENTS Subcellular localization image for DNAL1 gene
Compartment Confidence
nucleus 3
cytoskeleton 2
cytosol 2
plasma membrane 2
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components 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

None

No data available for SIGNOR curated interactions for DNAL1 Gene

Transcripts for DNAL1 Gene

Unigene Clusters for DNAL1 Gene

Dynein, axonemal, light chain 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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 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 testis.
genes like me logo Genes that share expression patterns with DNAL1: view

Primer Products

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 34 35
  • 99.82 (n)
cow
(Bos Taurus)
Mammalia DNAL1 34 35
  • 94.21 (n)
dog
(Canis familiaris)
Mammalia DNAL1 34 35
  • 93.81 (n)
rat
(Rattus norvegicus)
Mammalia Dnal1 34
  • 88.77 (n)
mouse
(Mus musculus)
Mammalia Dnal1 34 16 35
  • 88.6 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 85 (a)
OneToMany
-- 35
  • 69 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia DNAL1 35
  • 36 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNAL1 34 35
  • 80.6 (n)
lizard
(Anolis carolinensis)
Reptilia DNAL1 35
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnal1 34
  • 74.91 (n)
zebrafish
(Danio rerio)
Actinopterygii DNAL1 (2 of 2) 35
  • 78 (a)
OneToMany
dnal1 34 35
  • 73.37 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004416 34
  • 59.61 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8800 34
  • 55.61 (n)
CG10839 35
  • 53 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 76 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14200 34
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 Sequence Context AA Info Type
rs387907021 Ciliary dyskinesia, primary, 16 (CILD16) [MIM:614017], Pathogenic 73,689,432(+) AGGCA(A/G)TCCCT reference, missense
rs876657637 Likely pathogenic 73,671,557(+) GATAT(-/TATCTTT)AGGAA reference, frameshift-variant
rs150636700 Likely benign 73,689,475(+) ATTGA(A/G)GAAGC reference, synonymous-codon
rs186927207 Likely benign 73,687,342(+) AAGAA(A/G)TTGAA reference, synonymous-codon
rs372867813 Likely benign 73,695,974(+) TTATT(C/T)AAATG utr-variant-3-prime

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

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

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)
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

(6) MalaCards diseases for DNAL1 Gene - From: 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

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.

Relevant External Links for DNAL1

Genetic Association Database (GAD)
DNAL1
Human Genome Epidemiology (HuGE) Navigator
DNAL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DNAL1
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) Horvath J. … Omran H. (Am. J. Respir. Cell Mol. Biol. 2005) 2 3 4 22 64
  2. Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1. (PMID: 21496787) Mazor M. … Parvari R. (Am. J. Hum. Genet. 2011) 3 4 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Knockdown of MAP4 and DNAL1 produces a post-fusion and pre-nuclear translocation impairment in HIV-1 replication. (PMID: 22018492) Gallo D.E. … Hope T.J. (Virology 2012) 3 64

Products for DNAL1 Gene

Sources for DNAL1 Gene

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