Dnah5 dynein, axonemal, heavy chain 5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dnah5provided by MGI
Official Full Name: dynein, axonemal, heavy chain 5provided by MGI
Primary source: MGI:MGI:107718
See related: Ensembl:ENSMUSG00000022262 AllianceGenome:MGI:107718
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: Dnahc5; Mdnah5; b2b601Clo; mKIAA1603; b2b1134Clo; b2b1154Clo; b2b1537Clo; b2b1565Clo; b2b3491Clo
Summary: Enables microtubule motor activity. Acts upstream of or within several processes, including determination of left/right symmetry; epithelial cilium movement involved in extracellular fluid movement; and lateral ventricle development. Located in 9+2 motile cilium and axoneme. Part of outer dynein arm. Is expressed in gut; male reproductive gland or organ; midbrain; and trachea epithelium. Used to study otitis media; primary ciliary dyskinesia (multiple); tetralogy of Fallot; and visceral heterotaxy. Human ortholog(s) of this gene implicated in Kartagener syndrome and primary ciliary dyskinesia 3. Orthologous to human DNAH5 (dynein axonemal heavy chain 5). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 15 B1; 15 10.9 cM

Exon count:: 80

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (28155000..28472191)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (28154854..28472045)

Chromosome 15 - NC_000081.7 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?

Dnah6 genetically interacts with Dnai1 and Dnah5 to cause heterotaxy and primary ciliary dyskinesia.
Title: DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia.
Dnahc5 is required for the specification of left-right asymmetry and suggest that the PCD-causing Dnahc5 mutation may also be associated with heterotaxy.
Title: Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia.
These findings are consistent with studies indicating that perturbations in dynein activity can contribute to the aberrant accumulations of neurofilaments that accompany ALS/motor neuron disease.
Title: Inhibition of dynein but not kinesin induces aberrant focal accumulation of neurofilaments within axonal neurites.
Loss of function of Mdnah5 causes primary ciliary dyskinesia and hydrocephalus
Title: Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus.

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Variation

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Alleles

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

Chemically induced (ENU) (14) 1 citation
Endonuclease-mediated (1)
Spontaneous (1)
Targeted (2)
Transgenic (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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 microtubule motor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables minus-end-directed microtubule motor activity	IBA Inferred from Biological aspect of Ancestor 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
acts_upstream_of_or_within cilium assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cilium movement	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cilium movement	ISO Inferred from Sequence Orthology more info
involved_in cilium movement involved in cell motility	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within determination of left/right symmetry	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within determination of left/right symmetry	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within epithelial cilium movement involved in extracellular fluid movement	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment of localization in cell	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within flagellated sperm motility	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lateral ventricle development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in microtubule-based movement	IEA Inferred from Electronic Annotation more info
involved_in outer dynein arm assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within outer dynein arm assembly	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in 9+0 motile cilium	IDA Inferred from Direct Assay more info	PubMed
is_active_in 9+2 motile cilium	IBA Inferred from Biological aspect of Ancestor more info
located_in 9+2 motile cilium	IDA Inferred from Direct Assay more info	PubMed
located_in 9+2 motile cilium	ISO Inferred from Sequence Orthology more info
part_of axonemal dynein complex	IMP Inferred from Mutant Phenotype more info	PubMed
located_in axoneme	IDA Inferred from Direct Assay more info	PubMed
located_in axoneme	ISO Inferred from Sequence Orthology more info	PubMed
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cilium	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info	PubMed
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
part_of dynein complex	IEA Inferred from Electronic Annotation more info
located_in microtubule	IEA Inferred from Electronic Annotation more info
located_in motile cilium	ISO Inferred from Sequence Orthology more info
part_of outer dynein arm	IBA Inferred from Biological aspect of Ancestor more info
part_of outer dynein arm	IDA Inferred from Direct Assay more info	PubMed
part_of outer dynein arm	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: dynein axonemal heavy chain 5

Names: axonemal beta dynein heavy chain 5; axonemal dynein heavy chain 5; ciliary dynein heavy chain 5; dynein heavy chain 5, axonemal; dynein, axon, heavy chain 5

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_133365.3 → NP_579943.3 dynein axonemal heavy chain 5

See identical proteins and their annotated locations for NP_579943.3

Status: VALIDATED

Source sequence(s)

AC131997, AC154880

Consensus CDS

CCDS27404.1

UniProtKB/Swiss-Prot

E9QKD7, Q8BWG1, Q8VHE6

Related

ENSMUSP00000069751.7, ENSMUST00000067048.8

Conserved Domains (6) summary

pfam03028
Location:3929 → 4610

Dynein_heavy; Dynein heavy chain and region D6 of dynein motor

pfam08385
Location:248 → 802

DHC_N1; Dynein heavy chain, N-terminal region 1

pfam08393
Location:1402 → 1804

DHC_N2; Dynein heavy chain, N-terminal region 2

pfam12777
Location:3199 → 3543

MT; Microtubule-binding stalk of dynein motor

pfam12781
Location:3572 → 3788

AAA_9; ATP-binding dynein motor region D5

cl21455
Location:1939 → 2170

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

NC_000081.7 Reference GRCm39 C57BL/6J

Range

28155000..28472191

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006520014.2 → XP_006520077.1 dynein axonemal heavy chain 5 isoform X1

Conserved Domains (5) summary

COG5245
Location:1625 → 4267

DYN1; Dynein, heavy chain [Cytoskeleton]

pfam08385
Location:235 → 787

DHC_N1; Dynein heavy chain, N-terminal region 1

pfam08393
Location:1384 → 1789

DHC_N2; Dynein heavy chain, N-terminal region 2

pfam12774
Location:1924 → 2251

AAA_6; Hydrolytic ATP binding site of dynein motor region D1

pfam18199
Location:4311 → 4603

Dynein_C; Dynein heavy chain C-terminal domain