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

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: human all
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Genomic context

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_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A conditional null allele of Dync1h1 enables targeted analyses of dynein roles in neuronal length sensing.
Title: A conditional null allele of Dync1h1 enables targeted analyses of dynein roles in neuronal length sensing.
Conditional Deletion of Cytoplasmic Dynein Heavy Chain in Postnatal Photoreceptors.
Title: Conditional Deletion of Cytoplasmic Dynein Heavy Chain in Postnatal Photoreceptors.
Effect of conditional deletion of cytoplasmic dynein heavy chain DYNC1H1 on postnatal photoreceptors.
Title: Effect of conditional deletion of cytoplasmic dynein heavy chain DYNC1H1 on postnatal photoreceptors.
demonstrate that the outward transport of dynein from soma to axon terminal is driven by direct interactions with the anterograde motor kinesin-1.
Title: The Dynamic Localization of Cytoplasmic Dynein in Neurons Is Driven by Kinesin-1.
The Swl/Swl mutation of Dync1h1 gene led to embryonic mal-development and lethality, whereas the Swl/+ DRG neurons demonstrated deficient retrograde transport in dynein-driven cargos and excessive apoptosis during mid- to late-developmental stages.
Title: Dync1h1 Mutation Causes Proprioceptive Sensory Neuron Loss and Impaired Retrograde Axonal Transport of Dorsal Root Ganglion Neurons.
These data unveil a previously unrecognized role for the dynein-dynactin motor complex in osteoclast formation and function.
Title: Disruption of the dynein-dynactin complex unveils motor-specific functions in osteoclast formation and bone resorption.
The Loa heterozygote phenotype is morphometrically depleted; in addition to dendritic axonal defects, the Loa mutation in a mouse model for mixed motor-sensory loss considers the entire neuraxis and is not a model for sensory loss.
Title: A novel phenotype for the dynein heavy chain mutation Loa: altered dendritic morphology, organelle density, and reduced numbers of trigeminal motoneurons.
Snapin-dynein coupling is one of the primary mechanisms driving BDNF-TrkB retrograde transport, thus providing mechanistic insights into the regulation of neuronal growth and survival.
Title: Snapin recruits dynein to BDNF-TrkB signaling endosomes for retrograde axonal transport and is essential for dendrite growth of cortical neurons.
Data show that amyloid precursor protein (APP) levels are well-correlated with the amount of the light chain of kinesin-1 (KLC1).
Title: Subpixel colocalization reveals amyloid precursor protein-dependent kinesin-1 and dynein association with axonal vesicles.
neuromuscular junction defects in mice with mutation of dynein heavy chain 1
Title: Neuromuscular junction defects in mice with mutation of dynein heavy chain 1.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Transgenic (1)
Targeted (6) 1 citation
Radiation induced (1)
Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Dync1h1 (e-PCR), detects polymorphism
- UniSTS:534555

AI894280 (e-PCR)
- UniSTS:164513

Dync1h1 (e-PCR), detects polymorphism
- UniSTS:499121

Dync1h1 (e-PCR), detects polymorphism
- UniSTS:516577

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

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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)

NM_030238.2 → NP_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:1044 → 4327

DYN1; Dynein, heavy chain [Cytoskeleton]

pfam03028
Location:3920 → 4630

Dynein_heavy; Dynein heavy chain and region D6 of dynein motor

pfam08385
Location:238 → 830

DHC_N1; Dynein heavy chain, N-terminal region 1

pfam08393
Location:1321 → 1719

DHC_N2; Dynein heavy chain, N-terminal region 2

pfam12777
Location:3199 → 3530

MT; Microtubule-binding stalk of dynein motor

pfam12781
Location:3559 → 3774

AAA_9; ATP-binding dynein motor region D5

cl21455
Location:1866 → 2103

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases