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    DNAL1 dynein axonemal light chain 1 [ Homo sapiens (human) ]

    Gene ID: 83544, updated on 28-Oct-2024

    Summary

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    Official Symbol
    DNAL1provided by HGNC
    Official Full Name
    dynein axonemal light chain 1provided by HGNC
    Primary source
    HGNC:HGNC:23247
    See related
    Ensembl:ENSG00000119661 MIM:610062; AllianceGenome:HGNC:23247
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LC1; CILD16; C14orf168
    Summary
    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]
    Expression
    Broad expression in thyroid (RPKM 3.1), brain (RPKM 3.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DNAL1 in Genome Data Viewer
    Location:
    14q24.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (73644986..73703732)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (67852479..67911268)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (74111689..74170435)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene HEAT repeat containing 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8704 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:74079399-74079898 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:74080557-74080801 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:74083421-74084009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8706 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36549 Neighboring gene acyl-CoA thioesterase 6 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36559 Neighboring gene NADH:ubiquinone oxidoreductase subunit B8 pseudogene 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36561 Neighboring gene Sharpr-MPRA regulatory region 2817 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36567 Neighboring gene RNA, U6 small nuclear 240, pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36575 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36590 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8707 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5913 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5914 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8708 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:74185518-74186128 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:74190512-74191711 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5915 Neighboring gene uncharacterized LOC124903345 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:74205959-74206474 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:74206989-74207504 Neighboring gene mitotic deacetylase associated SANT domain protein Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:74207505-74208018 Neighboring gene PNMA family member 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36600 Neighboring gene Sharpr-MPRA regulatory region 4460 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:74213165-74213679 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:74213680-74214193

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Deletions in DNAL1 Cause Primary Ciliary Dyskinesia Across North American Indigenous Populations. Poplawska K, et al. J Pediatr, 2023 Oct. PMID 36841509
    2. Knockdown of MAP4 and DNAL1 produces a post-fusion and pre-nuclear translocation impairment in HIV-1 replication. Gallo DE, et al. Virology, 2012 Jan 5. PMID 22018492, Free PMC Article
    3. Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1. Mazor M, et al. Am J Hum Genet, 2011 May 13. PMID 21496787, Free PMC Article
    4. Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients. Horváth J, et al. Am J Respir Cell Mol Biol, 2005 Jul. PMID 15845866
    5. ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms. Cho KJ, et al. PLoS Genet, 2018 Mar. PMID 29601588, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Deletions in DNAL1 Cause Primary Ciliary Dyskinesia Across North American Indigenous Populations.
      Title: Deletions in DNAL1 Cause Primary Ciliary Dyskinesia Across North American Indigenous Populations.
    2. DNAL1 and MAP4 may exert their functions in the HIV life cycle at reverse transcription, prior to nuclear translocation.
      Title: Knockdown of MAP4 and DNAL1 produces a post-fusion and pre-nuclear translocation impairment in HIV-1 replication.
    3. DNAL1 mutation could help to elucidate the interaction between the DNAL1 to dynein heavy chain and to tubulin.
      Title: Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    5. identification of the human (DNAL1) ortholog of the Chlamydomonas LC1-gene; protein interaction studies demonstrated binding of DNAL1 and DNAH5; DNAL1 considered a candidate for primary ciliary dyskinesia
      Title: Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Primary ciliary dyskinesia 16
    MedGen: C3151460 OMIM: 614017 GeneReviews: Primary Ciliary Dyskinesia
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of dynein, axonemal, light chain 1 (DNAL1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed
    Knockdown of DNAL1 and MAP4 by siRNAs and shRNAs inhibits HIV-1 replication in HeLa P4.2 cells by blocking reverse transcription and 2-LTR formation PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC12435

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables alpha-tubulin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables alpha-tubulin binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables dynein heavy chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables dynein heavy chain binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables dynein heavy chain binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in outer dynein arm assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in outer dynein arm assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of outer dynein arm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    dynein axonemal light chain 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_028083.2 RefSeqGene

      Range
      5112..63858
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001201366.2 → NP_001188295.1  dynein axonemal light chain 1 isoform 2

      See identical proteins and their annotated locations for NP_001188295.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC006146, AI242197, AK315392, BJ996719, BQ267448
      Consensus CDS
      CCDS55928.1
      UniProtKB/TrEMBL
      G3V424
      Related
      ENSP00000451834.1, ENST00000554871.5
      Conserved Domains (3) summary
      COG4886
      Location:10 → 115
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00031
      Location:11 → 32
      LRR_1; leucine-rich repeat [structural motif]
      sd00035
      Location:56 → 77
      LRR_NTF; leucine-rich repeat [structural motif]

    2. NM_031427.4 → NP_113615.2  dynein axonemal light chain 1 isoform 1

      See identical proteins and their annotated locations for NP_113615.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC006146, AF542071, AI242197, BJ996719, BQ267448
      Consensus CDS
      CCDS45134.1
      UniProtKB/Swiss-Prot
      B2RD38, Q4LDG9, Q5JPB7, Q9BS43
      Related
      ENSP00000452037.1, ENST00000553645.7
      Conserved Domains (4) summary
      sd00031
      Location:50 → 71
      LRR_1; leucine-rich repeat [structural motif]
      sd00035
      Location:95 → 116
      LRR_NTF; leucine-rich repeat [structural motif]
      pfam12799
      Location:49 → 89
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:70 → 127
      LRR_8; Leucine rich repeat

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      73644986..73703732
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024449715.2 → XP_024305483.1  dynein axonemal light chain 1 isoform X1

      UniProtKB/TrEMBL
      G3V424
      Conserved Domains (3) summary
      COG4886
      Location:10 → 115
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00031
      Location:11 → 32
      LRR_1; leucine-rich repeat [structural motif]
      sd00035
      Location:56 → 77
      LRR_NTF; leucine-rich repeat [structural motif]

    2. XM_017021679.3 → XP_016877168.1  dynein axonemal light chain 1 isoform X1

      UniProtKB/TrEMBL
      G3V424
      Conserved Domains (3) summary
      COG4886
      Location:10 → 115
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00031
      Location:11 → 32
      LRR_1; leucine-rich repeat [structural motif]
      sd00035
      Location:56 → 77
      LRR_NTF; leucine-rich repeat [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      67852479..67911268
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376775.1 → XP_054232750.1  dynein axonemal light chain 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q4LDG9.1 GenPept UniProtKB/Swiss-Prot:Q4LDG9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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