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    Dnah9 dynein, axonemal, heavy chain 9 [ Mus musculus (house mouse) ]

    Gene ID: 237806, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Dnah9provided by MGI
    Official Full Name
    dynein, axonemal, heavy chain 9provided by MGI
    Primary source
    MGI:MGI:1289279
    See related
    Ensembl:ENSMUSG00000056752 AllianceGenome:MGI:1289279
    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
    Dnahc9; mKIAA0357; 9030022M04; A230091C01; C230051G16; D11Ertd686e
    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 cerebrospinal fluid circulation and mucociliary clearance. Located in 9+2 motile cilium and distal portion of axoneme. Part of outer dynein arm. Is expressed in central nervous system and testis. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 40. Orthologous to human DNAH9 (dynein axonemal heavy chain 9). [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

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    Location:
    11 B3; 11 40.53 cM
    Exon count:
    69
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (65722150..66059379, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (65831324..66168581, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene mitogen-activated protein kinase kinase 4 Neighboring gene predicted gene, 53682 Neighboring gene zinc finger with KRAB and SCAN domains 6 Neighboring gene STARR-seq mESC enhancer starr_29773 Neighboring gene STARR-seq mESC enhancer starr_29774 Neighboring gene predicted gene, 40027 Neighboring gene predicted gene 12296 Neighboring gene shisa family member 6 Neighboring gene predicted gene, 45945 Neighboring gene STARR-seq mESC enhancer starr_29776 Neighboring gene STARR-seq mESC enhancer starr_29777 Neighboring gene predicted gene, 40028

    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. Dnah9 mutant mice and organoid models recapitulate the clinical features of patients with PCD and provide an excellent platform for drug screening. Zheng R, et al. Cell Death Dis, 2022 Jun 21. PMID 35729109, Free PMC Article
    2. Biallelic DNAH9 mutations are identified in Chinese patients with defective left-right patterning and cilia-related complex congenital heart disease. Chen W, et al. Hum Genet, 2022 Aug. PMID 35050399
    3. The establishment of rotational polarity in the airway and ependymal cilia: analysis with a novel cilium motility mutant mouse. Matsuo M, et al. Am J Physiol Lung Cell Mol Physiol, 2013 Jun 1. PMID 23525783
    4. Primary ciliary dyskinesia: genes, candidate genes and chromosomal regions. Geremek M, et al. J Appl Genet, 2004. PMID 15306728
    5. CFAP53 regulates mammalian cilia-type motility patterns through differential localization and recruitment of axonemal dynein components. Ide T, et al. PLoS Genet, 2020 Dec. PMID 33347437, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Biallelic DNAH9 mutations are identified in Chinese patients with defective left-right patterning and cilia-related complex congenital heart disease.
      Title: Biallelic DNAH9 mutations are identified in Chinese patients with defective left-right patterning and cilia-related complex congenital heart disease.
    2. Dnah9 mutant mice and organoid models recapitulate the clinical features of patients with PCD and provide an excellent platform for drug screening.
      Title: Dnah9 mutant mice and organoid models recapitulate the clinical features of patients with PCD and provide an excellent platform for drug screening.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0357

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    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 minus-end-directed microtubule motor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within cerebrospinal fluid circulation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in 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 establishment of localization in cell IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within mucociliary clearance IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    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
    		  
    is_active_in axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in axoneme ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in distal portion of axoneme IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in distal portion of axoneme ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of dynein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular region IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in motile cilium ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of outer dynein arm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    dynein axonemal heavy chain 9
    Names
    dynein, axonemal, heavy polypeptide 9

    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_001099633.2 → NP_001093103.1  dynein axonemal heavy chain 9

      See identical proteins and their annotated locations for NP_001093103.1

      Status: VALIDATED

      Source sequence(s)
      AL596025, AL596187
      Consensus CDS
      CCDS36182.1
      UniProtKB/TrEMBL
      B1AR51
      Related
      ENSMUSP00000079494.4, ENSMUST00000080665.10
      Conserved Domains (6) summary
      pfam03028
      Location:3785 → 4474
      Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
      pfam08385
      Location:210 → 787
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam08393
      Location:1293 → 1697
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12777
      Location:3065 → 3408
      MT; Microtubule-binding stalk of dynein motor
      pfam12781
      Location:3436 → 3648
      AAA_9; ATP-binding dynein motor region D5
      cl21455
      Location:2437 → 2708
      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_000077.7 Reference GRCm39 C57BL/6J

      Range
      65722150..66059379 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006533213.5 → XP_006533276.1  dynein axonemal heavy chain 9 isoform X3

      Conserved Domains (7) summary
      COG5245
      Location:1363 → 3994
      DYN1; Dynein, heavy chain [Cytoskeleton]
      pfam12777
      Location:2911 → 3254
      MT; Microtubule-binding stalk of dynein motor
      pfam08385
      Location:212 → 633
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam08393
      Location:1136 → 1542
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12774
      Location:1676 → 2002
      AAA_6; Hydrolytic ATP binding site of dynein motor region D1
      pfam12780
      Location:2639 → 2898
      AAA_8; P-loop containing dynein motor region D4
      pfam18199
      Location:4033 → 4328
      Dynein_C; Dynein heavy chain C-terminal domain

    2. XM_017314522.3 → XP_017170011.1  dynein axonemal heavy chain 9 isoform X5

      Conserved Domains (13) summary
      pfam12777
      Location:2859 → 3187
      MT; Microtubule-binding stalk of dynein motor
      pfam03028
      Location:3683 → 3799
      Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
      pfam08385
      Location:212 → 787
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam08393
      Location:1290 → 1696
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12774
      Location:1830 → 2156
      AAA_6; Hydrolytic ATP binding site of dynein motor region D1
      pfam12775
      Location:2437 → 2616
      AAA_7; P-loop containing dynein motor region D3
      pfam12781
      Location:3215 → 3428
      AAA_9; ATP-binding dynein motor region D5
      pfam17852
      Location:2315 → 2430
      Dynein_AAA_lid; Dynein heavy chain AAA lid domain
      pfam17857
      Location:2649 → 2748
      AAA_lid_1; AAA+ lid domain
      pfam18198
      Location:3801 → 3960
      AAA_lid_11; Dynein heavy chain AAA lid domain
      pfam18199
      Location:3966 → 4261
      Dynein_C; Dynein heavy chain C-terminal domain
      cl38936
      Location:2144 → 2279
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
      cl38985
      Location:2793 → 2864
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    3. XM_006533212.5 → XP_006533275.1  dynein axonemal heavy chain 9 isoform X2

      Conserved Domains (7) summary
      COG5245
      Location:1517 → 4070
      DYN1; Dynein, heavy chain [Cytoskeleton]
      pfam12777
      Location:2985 → 3330
      MT; Microtubule-binding stalk of dynein motor
      pfam08385
      Location:212 → 787
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam08393
      Location:1290 → 1696
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12774
      Location:1830 → 2156
      AAA_6; Hydrolytic ATP binding site of dynein motor region D1
      pfam12781
      Location:3358 → 3571
      AAA_9; ATP-binding dynein motor region D5
      pfam18199
      Location:4109 → 4404
      Dynein_C; Dynein heavy chain C-terminal domain

    4. XM_017314521.3 → XP_017170010.1  dynein axonemal heavy chain 9 isoform X1

      Conserved Domains (7) summary
      COG5245
      Location:1517 → 4107
      DYN1; Dynein, heavy chain [Cytoskeleton]
      pfam12777
      Location:3065 → 3408
      MT; Microtubule-binding stalk of dynein motor
      pfam08385
      Location:212 → 787
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam08393
      Location:1290 → 1696
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12774
      Location:1830 → 2156
      AAA_6; Hydrolytic ATP binding site of dynein motor region D1
      pfam12780
      Location:2793 → 3052
      AAA_8; P-loop containing dynein motor region D4
      pfam18199
      Location:4146 → 4441
      Dynein_C; Dynein heavy chain C-terminal domain

    5. XM_006533214.3 → XP_006533277.1  dynein axonemal heavy chain 9 isoform X4

      Conserved Domains (7) summary
      COG5245
      Location:1319 → 3950
      DYN1; Dynein, heavy chain [Cytoskeleton]
      pfam12777
      Location:2867 → 3210
      MT; Microtubule-binding stalk of dynein motor
      pfam08385
      Location:14 → 589
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam08393
      Location:1092 → 1498
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12774
      Location:1632 → 1958
      AAA_6; Hydrolytic ATP binding site of dynein motor region D1
      pfam12780
      Location:2595 → 2854
      AAA_8; P-loop containing dynein motor region D4
      pfam18199
      Location:3989 → 4284
      Dynein_C; Dynein heavy chain C-terminal domain

    6. XM_036156656.1 → XP_036012549.1  dynein axonemal heavy chain 9 isoform X7

      Conserved Domains (5) summary
      COG5245
      Location:437 → 3068
      DYN1; Dynein, heavy chain [Cytoskeleton]
      pfam12777
      Location:1985 → 2328
      MT; Microtubule-binding stalk of dynein motor
      pfam08393
      Location:210 → 616
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12774
      Location:750 → 1076
      AAA_6; Hydrolytic ATP binding site of dynein motor region D1
      pfam18199
      Location:3107 → 3402
      Dynein_C; Dynein heavy chain C-terminal domain

    7. XM_036156657.1 → XP_036012550.1  dynein axonemal heavy chain 9 isoform X7

      Conserved Domains (5) summary
      COG5245
      Location:437 → 3068
      DYN1; Dynein, heavy chain [Cytoskeleton]
      pfam12777
      Location:1985 → 2328
      MT; Microtubule-binding stalk of dynein motor
      pfam08393
      Location:210 → 616
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12774
      Location:750 → 1076
      AAA_6; Hydrolytic ATP binding site of dynein motor region D1
      pfam18199
      Location:3107 → 3402
      Dynein_C; Dynein heavy chain C-terminal domain

    8. XM_017314523.3 → XP_017170012.1  dynein axonemal heavy chain 9 isoform X6

      Conserved Domains (6) summary
      COG5245
      Location:1517 → 4095
      DYN1; Dynein, heavy chain [Cytoskeleton]
      pfam12777
      Location:3065 → 3408
      MT; Microtubule-binding stalk of dynein motor
      pfam08385
      Location:212 → 787
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam08393
      Location:1290 → 1696
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12774
      Location:1830 → 2156
      AAA_6; Hydrolytic ATP binding site of dynein motor region D1
      pfam12780
      Location:2793 → 3052
      AAA_8; P-loop containing dynein motor region D4

    9. XM_017314525.3 → XP_017170014.1  dynein axonemal heavy chain 9 isoform X8

      Conserved Domains (5) summary
      COG5245
      Location:1517 → 2899
      DYN1; Dynein, heavy chain [Cytoskeleton]
      pfam08385
      Location:212 → 787
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam08393
      Location:1290 → 1696
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12774
      Location:1830 → 2156
      AAA_6; Hydrolytic ATP binding site of dynein motor region D1
      pfam12775
      Location:2437 → 2616
      AAA_7; P-loop containing dynein motor region D3

    10. XM_006533218.5 → XP_006533281.1  dynein axonemal heavy chain 9 isoform X9

      Conserved Domains (4) summary
      pfam08385
      Location:212 → 787
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam08393
      Location:1290 → 1696
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12774
      Location:1830 → 2156
      AAA_6; Hydrolytic ATP binding site of dynein motor region D1
      cl38936
      Location:2144 → 2279
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    RNA

    1. XR_004936949.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version

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