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Dync1h1 dynein cytoplasmic 1 heavy chain 1 [ Mus musculus (house mouse) ]

Gene ID: 13424, updated on 3-Jun-2024

Summary

Official Symbol
Dync1h1provided by MGI
Official Full Name
dynein cytoplasmic 1 heavy chain 1provided by MGI
Primary source
MGI:MGI:103147
See related
Ensembl:ENSMUSG00000018707 AllianceGenome:MGI:103147
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Loa; P22; Swl; DHC1; DNCL; DHC1a; Dnec1; Dnecl; MAP1C; Dnchc1; mKIAA0325; 9930018I23Rik
Summary
Enables dynein light intermediate chain binding activity. Involved in P-body assembly; positive regulation of cold-induced thermogenesis; and stress granule assembly. Located in cytoplasm and filopodium. Is expressed in several structures, including early conceptus; nervous system; neural retina; placenta; and spleen. Used to study Charcot-Marie-Tooth disease axonal type 2O. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2O; autosomal dominant non-syndromic intellectual disability 13; and spinal muscular atrophy with lower extremity predominance 1. Orthologous to human DYNC1H1 (dynein cytoplasmic 1 heavy chain 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in whole brain E14.5 (RPKM 27.1), cerebellum adult (RPKM 27.0) and 28 other tissues See more
Orthologs
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Genomic context

See Dync1h1 in Genome Data Viewer
Location:
12 F1; 12 60.7 cM
Exon count:
77
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (110567829..110633378)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (110601395..110666944)

Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene protein phosphatase 2, regulatory subunit B', gamma Neighboring gene STARR-seq mESC enhancer starr_33280 Neighboring gene CapStarr-seq enhancer MGSCv37_chr12:111716802-111717199 Neighboring gene predicted gene, 19605 Neighboring gene STARR-positive B cell enhancer ABC_E1864 Neighboring gene STARR-positive B cell enhancer ABC_E5354 Neighboring gene CapStarr-seq enhancer MGSCv37_chr12:111737456-111737643 Neighboring gene STARR-seq mESC enhancer starr_33286 Neighboring gene STARR-seq mESC enhancer starr_33287 Neighboring gene STARR-seq mESC enhancer starr_33292 Neighboring gene RIKEN cDNA B930059L03 gene Neighboring gene CapStarr-seq enhancer MGSCv37_chr12:111829680-111829789 Neighboring gene CapStarr-seq enhancer MGSCv37_chr12:111829792-111829979 Neighboring gene STARR-seq mESC enhancer starr_33294 Neighboring gene predicted gene, 35558 Neighboring gene RIKEN cDNA 1700001K19 gene Neighboring gene predicted gene, 53768

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Chemically induced (ENU) (2)  1 citation
  • Endonuclease-mediated (2) 
  • Radiation induced (1) 
  • Targeted (7)  1 citation
  • Transgenic (1) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
 
enables dynein intermediate chain binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables dynein light intermediate chain binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables dynein light intermediate chain binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables dynein light intermediate chain binding ISO
Inferred from Sequence Orthology
more info
 
enables minus-end-directed microtubule motor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
contributes_to minus-end-directed microtubule motor activity ISO
Inferred from Sequence Orthology
more info
 
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in P-body assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cell cycle IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within cell division IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within cilium movement IC
Inferred by Curator
more info
PubMed 
involved_in cytoplasmic microtubule organization IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in establishment of spindle localization ISO
Inferred from Sequence Orthology
more info
 
involved_in microtubule-based movement IEA
Inferred from Electronic Annotation
more info
 
involved_in mitotic spindle organization IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in nuclear migration IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in positive regulation of cold-induced thermogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of intracellular transport ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of spindle assembly ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of metaphase plate congression ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of mitotic spindle organization ISO
Inferred from Sequence Orthology
more info
 
involved_in retrograde axonal transport IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in stress granule assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in axon ISO
Inferred from Sequence Orthology
more info
 
is_active_in cell cortex IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in centrosome ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
part_of cytoplasmic dynein complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of cytoplasmic dynein complex ISM
Inferred from Sequence Model
more info
PubMed 
part_of cytoplasmic dynein complex ISO
Inferred from Sequence Orthology
more info
 
is_active_in cytoplasmic microtubule IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
part_of dynein complex ISO
Inferred from Sequence Orthology
more info
 
located_in filopodium IDA
Inferred from Direct Assay
more info
PubMed 
located_in manchette ISO
Inferred from Sequence Orthology
more info
 
located_in microtubule ISO
Inferred from Sequence Orthology
more info
 
located_in neuronal cell body ISO
Inferred from Sequence Orthology
more info
 
located_in nuclear envelope ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
cytoplasmic dynein 1 heavy chain 1
Names
cytoplasmic dynein heavy chain 1
dynein heavy chain, cytosolic
dynein heavy chain, retrograde transport
dynein, cytoplasmic, heavy chain 1
legs at odd angle
sprawling

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.

mRNA and Protein(s)

  1. NM_030238.2NP_084514.2  cytoplasmic dynein 1 heavy chain 1

    See identical proteins and their annotated locations for NP_084514.2

    Status: VALIDATED

    Source sequence(s)
    AC152827
    Consensus CDS
    CCDS36559.1
    UniProtKB/Swiss-Prot
    E9QM71, Q9JHU4
    Related
    ENSMUSP00000018851.8, ENSMUST00000018851.14
    Conserved Domains (7) summary
    COG5245
    Location:10444327
    DYN1; Dynein, heavy chain [Cytoskeleton]
    pfam03028
    Location:39204630
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08385
    Location:238830
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:13211719
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:31993530
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:35593774
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:18662103
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000078.7 Reference GRCm39 C57BL/6J

    Range
    110567829..110633378
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)