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DNAL4 dynein axonemal light chain 4 [ Homo sapiens (human) ]

Gene ID: 10126, updated on 12-May-2016
Official Symbol
DNAL4provided by HGNC
Official Full Name
dynein axonemal light chain 4provided by HGNC
Primary source
HGNC:HGNC:2955
See related
Ensembl:ENSG00000100246 HPRD:13239; MIM:610565; Vega:OTTHUMG00000151025
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
MRMV3; PIG27
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. [provided by RefSeq, Dec 2014]
Orthologs
Location:
22q13.1
Exon count:
4
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 22 NC_000022.11 (38778508..38794156, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (39174513..39190161, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene GTP binding protein 1 Neighboring gene peroxiredoxin 3 pseudogene 1 Neighboring gene Sad1 and UNC84 domain containing 2 Neighboring gene neuronal pentraxin receptor Neighboring gene chromobox 6

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Mirror movements 3
MedGen: CN220783 OMIM: 616059 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA Catalog
  • 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...
  • NGF signalling via TRKA from the plasma membrane, organism-specific biosystem (from REACTOME)
    NGF signalling via TRKA from the plasma membrane, organism-specific biosystemTrk receptors signal from the plasma membrane and from intracellular membranes, particularly from early endosomes. Signalling from the plasma membrane is fast but transient; signalling from endosomes...
  • Retrograde neurotrophin signalling, organism-specific biosystem (from REACTOME)
    Retrograde neurotrophin signalling, organism-specific biosystemNeurotrophin-TRK complexes can be internalized and enter signalling vesicles, which travel retrogradely over long distances from distal nerve terminals to neuronal cell bodies. Such retrograde signal...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signalling by NGF, organism-specific biosystem (from REACTOME)
    Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
microtubule motor activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
microtubule-based movement TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cilium IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
dynein complex IEA
Inferred from Electronic Annotation
more info
 
microtubule IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
dynein light chain 4, axonemal
Names
dynein light chain, outer arm 4
dynein, axonemal, light chain 4
dynein, axonemal, light polypeptide 4
proliferation-inducing gene 27
proliferation-inducing protein 27

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_041804.1 RefSeqGene

    Range
    5001..20649
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005740.2NP_005731.1  dynein light chain 4, axonemal

    See identical proteins and their annotated locations for NP_005731.1

    Status: REVIEWED

    Source sequence(s)
    AL035366, BC002968, BX473356
    Consensus CDS
    CCDS13979.1
    UniProtKB/Swiss-Prot
    O96015
    Related
    ENSP00000216068, OTTHUMP00000198978, ENST00000216068, OTTHUMT00000321032
    Conserved Domains (1) summary
    pfam01221
    Location:20105
    Dynein_light; Dynein light chain type 1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p2 Primary Assembly

    Range
    38778508..38794156 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018933.2 Alternate CHM1_1.1

    Range
    39133448..39149113 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)