Dnah1 dynein, axonemal, heavy chain 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dnah1provided by MGI
Official Full Name: dynein, axonemal, heavy chain 1provided by MGI
Primary source: MGI:MGI:107721
See related: Ensembl:ENSMUSG00000019027 AllianceGenome:MGI:107721
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: MDHC7; ferf1; Dnahc1; G1-415-19; B230373P09Rik; E030034C22Rik
Summary: Predicted to enable dynein intermediate chain binding activity; dynein light intermediate chain binding activity; and minus-end-directed microtubule motor activity. Acts upstream of or within epithelial cilium movement involved in extracellular fluid movement and flagellated sperm motility. Located in sperm flagellum. Is expressed in cerebellum; choroid plexus; and lateral ventricle choroid plexus. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 37 and spermatogenic failure 18. Orthologous to human DNAH1 (dynein axonemal heavy chain 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in testis adult (RPKM 11.5), limb E14.5 (RPKM 1.6) and 6 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 B; 14

Exon count:: 78

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (30982332..31045926, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (31260375..31325891, complement)

Chromosome 14 - NC_000080.7 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?

These results present a new genetic model for understanding the dynein pathway and its functions during neuronal migration.
Title: Neuronal migration defects in the Loa dynein mutant mouse.
Results could find no significant differences or typical disorders in the outer or inner dynein arms of mice deficient in dynein heavy chains.
Title: Ultrastructural changes in the cilia of experimental mice.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Targeted (3) 1 citation
Chemically induced (ENU) (1)

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 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	IC Inferred by Curator 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

Process	Evidence Code	Pubs
acts_upstream_of_or_within cilium movement involved in cell motility	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within epithelial cilium movement involved in extracellular fluid movement	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in flagellated sperm motility	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within flagellated sperm motility	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 inner dynein arm assembly	ISO Inferred from Sequence Orthology more info
involved_in microtubule-based movement	IEA Inferred from Electronic Annotation more info
involved_in sperm axoneme assembly	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in axoneme	ISO Inferred from Sequence Orthology more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cilium	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
part_of dynein complex	IEA Inferred from Electronic Annotation more info
located_in extracellular region	IMP Inferred from Mutant Phenotype more info	PubMed
part_of inner dynein arm	IBA Inferred from Biological aspect of Ancestor more info
part_of inner dynein arm	ISM Inferred from Sequence Model more info	PubMed
part_of inner dynein arm	ISO Inferred from Sequence Orthology more info
located_in microtubule	IEA Inferred from Electronic Annotation more info
located_in motile cilium	IEA Inferred from Electronic Annotation more info
is_active_in sperm flagellum	IBA Inferred from Biological aspect of Ancestor more info
located_in sperm flagellum	IDA Inferred from Direct Assay more info	PubMed
located_in sperm flagellum	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: dynein axonemal heavy chain 1

Names: axonemal beta dynein heavy chain 1; ciliary dynein heavy chain 1; dynein heavy chain 1, axonemal; dynein, axon, heavy chain 1; dynein, axonemal, heavy polypeptide 1

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_001033668.1 → NP_001028840.1 dynein axonemal heavy chain 1

Status: VALIDATED

Source sequence(s)

AC108416

Consensus CDS

CCDS49436.1

UniProtKB/Swiss-Prot

E9Q8T7, O08828, Q8R584

Related

ENSMUSP00000043281.8, ENSMUST00000048603.8

Conserved Domains (5) summary

COG5245
Location:1237 → 3883

DYN1; Dynein, heavy chain [Cytoskeleton]

pfam08393
Location:998 → 1401

DHC_N2; Dynein heavy chain, N-terminal region 2

pfam12774
Location:1528 → 1854

AAA_6; Hydrolytic ATP binding site of dynein motor region D1

pfam12780
Location:2541 → 2799

AAA_8; P-loop containing dynein motor region D4

pfam18199
Location:3944 → 4246

Dynein_C; Dynein heavy chain C-terminal domain

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_000080.7 Reference GRCm39 C57BL/6J

Range

30982332..31045926 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006518426.4 → XP_006518489.1 dynein axonemal heavy chain 1 isoform X1

Conserved Domains (4) summary

COG5245
Location:1237 → 3883

DYN1; Dynein, heavy chain [Cytoskeleton]

pfam08393
Location:998 → 1401

DHC_N2; Dynein heavy chain, N-terminal region 2

pfam12774
Location:1528 → 1854

AAA_6; Hydrolytic ATP binding site of dynein motor region D1

pfam12780
Location:2541 → 2799

AAA_8; P-loop containing dynein motor region D4