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

Gene ID: 83544, updated on 11-Sep-2019

Summary

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
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

Genomic context

See DNAL1 in Genome Data Viewer
Location:
14q24.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (73644986..73703732)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (74111578..74170431)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene acyl-CoA thioesterase 6 Neighboring gene NADH:ubiquinone oxidoreductase subunit B8 pseudogene 1 Neighboring gene RNA, U6 small nuclear 240, pseudogene Neighboring gene PNMA family member 1 Neighboring gene mitotic deacetylase associated SANT domain protein Neighboring gene microRNA 4505

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Pathways from BioSystems

  • Huntington's disease, organism-specific biosystem (from KEGG)
    Huntington's disease, organism-specific biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
  • Huntington's disease, conserved biosystem (from KEGG)
    Huntington's disease, conserved biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC12435

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
dynein light chain 1, axonemal

NCBI Reference Sequences (RefSeq)

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_001201366.2NP_001188295.1  dynein light chain 1, axonemal 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/Swiss-Prot
    Q4LDG9
    Related
    ENSP00000451834.1, ENST00000554871.5
    Conserved Domains (3) summary
    COG4886
    Location:10115
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00031
    Location:1132
    LRR_1; leucine-rich repeat [structural motif]
    sd00035
    Location:5677
    LRR_NTF; leucine-rich repeat [structural motif]
  2. NM_031427.4NP_113615.2  dynein light chain 1, axonemal 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
    Q4LDG9
    Related
    ENSP00000452037.1, ENST00000553645.7
    Conserved Domains (4) summary
    sd00031
    Location:5071
    LRR_1; leucine-rich repeat [structural motif]
    sd00035
    Location:95116
    LRR_NTF; leucine-rich repeat [structural motif]
    pfam12799
    Location:4989
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:70127
    LRR_8; Leucine rich repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_024449715.1XP_024305483.1  dynein light chain 1, axonemal isoform X1

    Conserved Domains (3) summary
    COG4886
    Location:10115
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00031
    Location:1132
    LRR_1; leucine-rich repeat [structural motif]
    sd00035
    Location:5677
    LRR_NTF; leucine-rich repeat [structural motif]
  2. XM_017021679.2XP_016877168.1  dynein light chain 1, axonemal isoform X1

    UniProtKB/Swiss-Prot
    Q4LDG9
    Conserved Domains (3) summary
    COG4886
    Location:10115
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00031
    Location:1132
    LRR_1; leucine-rich repeat [structural motif]
    sd00035
    Location:5677
    LRR_NTF; leucine-rich repeat [structural motif]
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