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    Dnhd1 dynein heavy chain domain 1 [ Mus musculus (house mouse) ]

    Gene ID: 77505, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Dnhd1provided by MGI
    Official Full Name
    dynein heavy chain domain 1provided by MGI
    Primary source
    MGI:MGI:1924755
    See related
    Ensembl:ENSMUSG00000030882 AllianceGenome:MGI:1924755
    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
    8030491N06Rik
    Summary
    Predicted to enable dynein intermediate chain binding activity; dynein light intermediate chain binding activity; and minus-end-directed microtubule motor activity. Involved in sperm flagellum assembly. Located in sperm flagellum. Is expressed in cartilage; central nervous system; genitourinary system; stomach; and trachea. Human ortholog(s) of this gene implicated in spermatogenic failure 65. Orthologous to human DNHD1 (dynein heavy chain domain 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis adult (RPKM 13.6), limb E14.5 (RPKM 1.2) and 10 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Dnhd1 in Genome Data Viewer
    Location:
    7 E3; 7 55.93 cM
    Exon count:
    44
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (105299983..105371007)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (105650776..105721800)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E9700 Neighboring gene ARF interacting protein 2 Neighboring gene translocase of inner mitochondrial membrane 10B Neighboring gene predicted gene, 22504 Neighboring gene mitochondrial ribosomal protein S36, pseudogene 2 Neighboring gene STARR-positive B cell enhancer mm9_chr7:112892770-112893071 Neighboring gene ribosomal RNA processing 8 Neighboring gene integrin linked kinase Neighboring gene TATA-box binding protein associated factor 10

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice. Tan C, et al. Am J Hum Genet, 2022 Jan 6. PMID 34932939, Free PMC Article
    2. Voltage-dependent conformational changes of Kv1.3 channels activate cell proliferation. Cidad P, et al. J Cell Physiol, 2021 Jun. PMID 33230847
    3. The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. Koscielny G, et al. Nucleic Acids Res, 2014 Jan. PMID 24194600, Free PMC Article
    4. Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas. Watahiki A, et al. Nat Methods, 2004 Dec. PMID 15782199
    5. Genetic determinants of micronucleus formation in vivo. Adams DJ, et al. Nature, 2024 Mar. PMID 38355793, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice.
      Title: Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2)  1 citation
    • Targeted (2) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    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 intermediate chain binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables dynein light intermediate chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables dynein light intermediate chain binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables minus-end-directed microtubule motor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables minus-end-directed microtubule motor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in flagellated sperm motility IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in flagellated sperm motility IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in flagellated sperm motility ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in sperm flagellum assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sperm flagellum assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    part_of dynein complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of inner dynein arm IBA
    Inferred from Biological aspect of Ancestor
    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 heavy chain domain-containing protein 1
    Names
    coiled-coil domain-containing protein 35
    dynein heavy chain domain 1-like protein

    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_001370803.1 → NP_001357732.1  dynein heavy chain domain-containing protein 1

      Status: VALIDATED

      Source sequence(s)
      AC121823, AC125227
      UniProtKB/Swiss-Prot
      D3Z2X2, F6YTV1, Q9CX41
      UniProtKB/TrEMBL
      A0A8Z1SZM7
      Related
      ENSMUSP00000121261.3, ENSMUST00000145988.9
      Conserved Domains (8) summary
      pfam12777
      Location:3198 → 3468
      MT; Microtubule-binding stalk of dynein motor
      pfam03028
      Location:4103 → 4222
      Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
      pfam08393
      Location:1021 → 1469
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12774
      Location:1652 → 2005
      AAA_6; Hydrolytic ATP binding site of dynein motor region D1
      pfam12781
      Location:3663 → 3801
      AAA_9; ATP-binding dynein motor region D5
      pfam17852
      Location:2187 → 2347
      Dynein_AAA_lid; Dynein heavy chain AAA lid domain
      pfam18199
      Location:4519 → 4744
      Dynein_C; Dynein heavy chain C-terminal domain
      cl38985
      Location:2366 → 2533
      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_000073.7 Reference GRCm39 C57BL/6J

      Range
      105299983..105371007
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    D3Z2X2.3 GenPept UniProtKB/Swiss-Prot:D3Z2X2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials