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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DNAL1 Gene

protein-coding   GIFtS: 53
GCID: GC14P074111

dynein, axonemal, light chain 1

(Previous name: chromosome 14 open reading frame 168 )
(Previous symbol: C14orf168)
 Explore 7 diseases affiliated with
DNAL1 via our new
 Human Malady Compendium 
Biological research products
for DNAL1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Dynein, Axonemal, Light Chain 11 2     MGC124351
C14orf1681 2 3 5     Chromosome 14 Open Reading Frame 1681
CILD161 2     Dynein Light Chain 1, Axonemal2
1700010H15RiK1     

External Ids:    HGNC: 232471   Entrez Gene: 835442   Ensembl: ENSG000001196617   OMIM: 6100625   UniProtKB: Q4LDG93   

Export aliases for DNAL1 gene to outside databases

Previous GC identifers: GC14P073183 GC14P054279


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DNAL1:
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)

Gene Wiki entry for DNAL1


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DNAL1 gene promoter:
         RFX1   Pbx1a   AML1a   FOXO3   CUTL1   FOXO3b   FOXO4   FOXO3a   Zic3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDNAL1 promoter sequence
   Search SABiosciences Chromatin IP Primers for DNAL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DNAL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q24.3   Ensembl cytogenetic band:  14q24.3   HGNC cytogenetic band: 14q24.3

DNAL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DNAL1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P074111:  view genomic region     (about GC identifiers)

Start:
74,111,578 bp from pter      End:
74,168,661 bp from pter
Size:
57,084 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DNAL1_HUMAN, Q4LDG9 (See protein sequence)
Recommended Name: Dynein light chain 1, axonemal  
Size: 190 amino acids; 21533 Da
Subunit: Interacts with DNAH5
Sequence caution: Sequence=AAH05343.1; Type=Erroneous initiation;
Secondary accessions: B2RD38 Q5JPB7 Q9BS43
Alternative splicing: 3 isoforms:  Q4LDG9-1   Q4LDG9-2   Q4LDG9-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DNAL1: NX_Q4LDG9

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q4LDG9

  • DNAL1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001188295.1  NP_113615.2  

    ENSEMBL proteins: 
     ENSP00000452368   ENSP00000451547   ENSP00000452037   ENSP00000310360   ENSP00000451101  
     ENSP00000450744   ENSP00000451834   ENSP00000453439   ENSP00000451264   ENSP00000439695  

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    Uscn Proteins for DNAL1


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    Uscn ELISAs and CLIAs for DNAL1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    DNAL1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR001611 Leu-rich_rpt

    Graphical View of Domain Structure for InterPro Entry Q4LDG9

    ProtoNet protein and cluster: Q4LDG9

    UniProtKB/Swiss-Prot: DNAL1_HUMAN, Q4LDG9
    Similarity: Belongs to the dynein light chain LC1-type family
    Similarity: Contains 4 LRR (leucine-rich) repeats
    Similarity: Contains 1 LRRCT domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:
         Genatlas biochemistry entry for DNAL1:
    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

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    hsa-miR-576-3p hsa-miR-26a-2* hsa-miR-106a hsa-miR-146a hsa-miR-3653 hsa-miR-519a hsa-miR-4326 hsa-miR-130b
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    2 GenomeRNAi human phenotypes for DNAL1:
     Decreased Tat-dependent transc  Decreased p24 protein expressi 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Huntington's disease0.40
    2Cytoskeleton remodeling Neurofilaments
    Cytoplasmic microtubules0.32

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for DNAL1
        Cytoplasmic microtubules



    1         Kegg Pathway  (Kegg details for DNAL1):
        Huntington's disease


    DNAL1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DNAL1

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DNAL1
    Search CenterWatch for drugs/clinical trials and news about DNAL1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DNAL1 gene (2 alternative transcripts): 
    NM_001201366.1  NM_031427.3  

    Unigene Cluster for DNAL1:

    Dynein, axonemal, light chain 1
    Hs.271270  [show with all ESTs]
    Unigene Representative Sequence: NM_001201366
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000554113 ENST00000555631 ENST00000553645 ENST00000311089(uc010aru.3 uc001xoq.4 uc010arv.3)
    ENST00000555919 ENST00000554339 ENST00000554871 ENST00000559993 ENST00000554159
    ENST00000555637 ENST00000540526

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    8/156 QIAGEN miScript miRNA Assays for microRNAs that regulate DNAL1 (see all 156):
    hsa-miR-576-3p hsa-miR-26a-2* hsa-miR-106a hsa-miR-146a hsa-miR-3653 hsa-miR-519a hsa-miR-4326 hsa-miR-130b
    SwitchGear 3'UTR luciferase reporter plasmidDNAL1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DNAL1 (see all 4)
    OriGene shRNA RFP: DNAL1
    OriGene siRNA: DNAL1
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    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DNAL1
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    Additional cDNA sequence: 

    AF542071.1 AK315392.1 BC005343.1 

    12 DOTS entries:

    DT.116642  DT.99937365  DT.403536  DT.201645  DT.75161901  DT.120770735  DT.40207913  DT.120770727 
    DT.455760  DT.92418501  DT.92418502  DT.99999127 

    24/170 AceView cDNA sequences (see all 170):

    AA677030 F05801 AI283479 BF475818 AA975229 BE467862 AI538696 Z45540 
    BF433533 AI016435 AI242197 BX112638 BE835496 CA307053 BE503267 CA943186 
    BU950957 CA430714 CB218818 AW080421 AI052620 AL833654 AI702957 CA390723 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DNAL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACTTTATGAC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    DNAL1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Posterior foregut-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See DNAL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DNAL1

    SOURCE GeneReport for Unigene cluster: Hs.271270

    UniProtKB/Swiss-Prot: DNAL1_HUMAN, Q4LDG9
    Tissue specificity: Expressed in tissues carrying motile cilia such as testis

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNAL1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for DNAL1 gene from 5/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dnalc11 , 5 dynein, axonemal, light chain 11, 5 88.6(n)1
    93.16(a)1
      12 (39.05 cM)5
    1050001  NM_028821.31  NP_083097.21 
     841143665 
    chicken
    (Gallus gallus)
    Aves DNAL11 dynein, axonemal, light chain 1 80.6(n)
    84.66(a)
      423246  NM_001199681.1  NP_001186610.1 
    lizard
    (Anolis carolinensis)
    Reptilia DNAL16
    --
    88(a)
    1 ↔ 1
    1(39234383-39244093)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:925421 zgc:92542 73.37(n)
    82.54(a)
      445048  NM_001003442.1  NP_001003442.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG88001 CG8800 55.61(n)
    58.82(a)
      35962  NM_136639.2  NP_610483.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1156 NCBI SNPs in DNAL1 are shown (see all 1156    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs71569011,2
    C,F,A,H,--54277709(+) AAACTT/CACCAG 2 -- us2k116Minor allele frequency- C:0.15NS EA NA WA 2058
    rs584178241,2
    --54277956(+) AGTCTC/TCCCAG 2 -- us2k13Minor allele frequency- T:0.08CSA WA EA 240
    rs614365211,2
    C,F,--54278070(+) CAAGGG/CATCCT 2 -- us2k14Minor allele frequency- C:0.11WA CSA 124
    rs780194111,2
    F,--54278121(+) ACAAAC/TTGCAC 2 -- us2k11Minor allele frequency- T:0.05WA 118
    rs80198181,2
    C,--54278369(+) cagacT/Aggagt 2 -- us2k12Minor allele frequency- A:0.00NA 4
    rs20077221,2
    C,F,A,H,--54278600(-) GGTGGC/GTCACG 2 -- us2k15Minor allele frequency- G:0.35NA 128
    rs80191211,2
    C,F,H,--54278604(+) agccaC/Acagtc 2 -- us2k16Minor allele frequency- A:0.03NS NA WA 616
    rs355443571,2
    C--54278647(+) GTTGA-/TTTTTT 2 -- us2k10--------
    rs747942701,2
    F,--54278674(+) TTGAAC/TATACA 2 -- us2k11Minor allele frequency- T:0.05WA 118
    rs1141094431,2
    C,F,--54279153(+) TTAGGG/AGGACG 2 -- us2k11Minor allele frequency- A:0.03WA 118

    HapMap Linkage Disequilibrium report for DNAL1 (74111578 - 74168661 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for DNAL1
         1 CNV: 3942
    Human Gene Mutation Database (HGMD): DNAL1

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    DNAL1 for disorders           About GeneDecksing

    OMIM gene information: 610062    OMIM disorders: --

    UniProtKB/Swiss-Prot: DNAL1_HUMAN, Q4LDG9
  • Defects in DNAL1 are the cause of primary ciliary dyskinesia type 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

    7 diseases for DNAL1:    About MalaCards
    ciliary dyskinesia    primary ciliary dyskinesia    situs inversus    kartagener syndrome
    bronchiectasis    huntington's disease    malaria

    1 disease from the University of Copenhagen DISEASES database for DNAL1:
    Primary ciliary dyskinesia
    Human Genome Epidemiology (HuGE) Navigator: DNAL1 (2 documents)

    Export disorders for DNAL1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DNAL1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with DNAL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients. (PubMed id 15845866)1, 2, 3, 9 Horvath J.... Omran H. (2005)
    2. Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1. (PubMed id 21496787)1, 2 Mazor M.... Parvari R. (2011)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Knockdown of MAP4 and DNAL1 produces a post-fusion an d pre-nuclear translocation impairment in HIV-1 replication. (PubMed id 22018492)1 Gallo D.E. and Hope T.J. (2012)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    6. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    8. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)2 Heilig R.... Weissenbach J. (2003)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    10. Primary Ciliary Dyskinesia (PubMed id 20301301)1 Zariwala M.A....Leigh M.W. (1993)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 83544 HGNC: 23247 AceView: C14orf168 Ensembl:ENSG00000119661 euGenes: HUgn83544
    ECgene: DNAL1 Kegg: 83544 H-InvDB: DNAL1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DNAL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DNAL1 gene:
    Search GeneIP for patents involving DNAL1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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