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

Gene ID: 83544, updated on 3-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (73644986..73703732)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (67852479..67911268)
105.20220307 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
  • 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. 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
  2. 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
  3. 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
  4. 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
  5. Primary Ciliary Dyskinesia. Adam MP, et al. , 1993. PMID 20301301

See all (15) 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
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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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NEW Try the new Transcript table

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_2023_10

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

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