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    DNAH9 dynein axonemal heavy chain 9 [ Homo sapiens (human) ]

    Gene ID: 1770, updated on 5-May-2024

    Summary

    Official Symbol
    DNAH9provided by HGNC
    Official Full Name
    dynein axonemal heavy chain 9provided by HGNC
    Primary source
    HGNC:HGNC:2953
    See related
    Ensembl:ENSG00000007174 MIM:603330; AllianceGenome:HGNC:2953
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DYH9; HL20; DNEL1; HL-20; CILD40; Dnahc9; DNAH17L
    Summary
    This gene encodes the heavy chain subunit of axonemal dynein, a large multi-subunit molecular motor. Axonemal dynein attaches to microtubules and hydrolyzes ATP to mediate the movement of cilia and flagella. The gene expresses at least two transcript variants; additional variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in testis (RPKM 1.3), lung (RPKM 1.0) and 6 other tissues See more
    Orthologs
    NEW
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    Genomic context

    Location:
    17p12
    Exon count:
    73
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (11598470..11969748)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (11506869..11877746)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (11501787..11873065)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:11102854-11104053 Neighboring gene RNA, 7SL, cytoplasmic 601, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:11148155-11148656 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:11161596-11161784 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:11177103-11177604 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:11200213-11200381 Neighboring gene uncharacterized LOC124903929 Neighboring gene shisa family member 6 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:11397143-11397680 Neighboring gene NANOG hESC enhancer GRCh37_chr17:11406563-11407064 Neighboring gene MPRA-validated peak2723 silencer Neighboring gene MPRA-validated peak2724 silencer Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:11540697-11541896 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:11571267-11572208 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:11572478-11573677 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:11602804-11604003 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:11639660-11640859 Neighboring gene uncharacterized LOC101928350 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:11812057-11812249 Neighboring gene NANOG hESC enhancer GRCh37_chr17:11831780-11832352 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:11851561-11852062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:11852063-11852562 Neighboring gene uncharacterized LOC124903928 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr17:11879623-11880182 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:11894608-11895262 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:11900873-11901856 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:11923994-11924494 Neighboring gene ribosomal protein L21 pseudogene 122 Neighboring gene zinc finger protein 18 Neighboring gene RNA, U11 small nuclear 2, pseudogene Neighboring gene mitogen-activated protein kinase kinase 4

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Ciliary dyskinesia, primary, 40
    MedGen: C4749028 OMIM: 618300 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.
    EBI GWAS Catalog
    Genome-wide SNP associations with rubella-specific cytokine responses in measles-mumps-rubella vaccine recipients.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0357

    Gene Ontology Provided by GOA

    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 minus-end-directed microtubule motor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell projection organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cerebrospinal fluid circulation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cilium movement IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cilium movement involved in cell motility IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in establishment of localization in cell IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mucociliary clearance IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    is_active_in axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in axoneme IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in distal portion of axoneme IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of dynein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
     
    located_in motile cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of outer dynein arm IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    dynein axonemal heavy chain 9
    Names
    DNAH9 variant protein
    axonemal beta dynein heavy chain 9
    ciliary dynein heavy chain 9
    dynein, axonemal, heavy polypeptide 9

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_047047.1 RefSeqGene

      Range
      5040..376318
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001372.4NP_001363.2  dynein axonemal heavy chain 9 isoform 2

      See identical proteins and their annotated locations for NP_001363.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) is the longer transcript, lacking only one of 70 exons (exon 56). Its 5' UTR differs from variant 1. Its encoded protein, isoform 2, uses the same reading frame as isoform 1.
      Source sequence(s)
      AC005701, AF257737, AJ404468
      Consensus CDS
      CCDS11160.1
      UniProtKB/Swiss-Prot
      A2VCQ8, O15064, O95494, Q9NQ28, Q9NYC9
      UniProtKB/TrEMBL
      E7EP17
      Related
      ENSP00000262442.3, ENST00000262442.9
      Conserved Domains (8) summary
      pfam03028
      Location:37904476
      Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
      pfam08385
      Location:212789
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam08393
      Location:12951699
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12775
      Location:24392710
      AAA_7; P-loop containing dynein motor region D3
      pfam12777
      Location:30673410
      MT; Microtubule-binding stalk of dynein motor
      pfam12780
      Location:27883055
      AAA_8; P-loop containing dynein motor region D4
      pfam12781
      Location:34383650
      AAA_9; ATP-binding dynein motor region D5
      cl21455
      Location:18322062
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    2. NM_004662.2NP_004653.2  dynein axonemal heavy chain 9 isoform 1

      See identical proteins and their annotated locations for NP_004653.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the shorter transcript. It includes exons 56-70. Its 5' UTR differs from variant 2 since exon 56 is unique to variant 1. Its encoded protein, isoform 1, uses the same reading frame as isoform 2. This isoform is expressed specifically in testis.
      Source sequence(s)
      AC005209, AJ404468, X99947
      Consensus CDS
      CCDS11161.1
      UniProtKB/TrEMBL
      A2VCN3
      Related
      ENSP00000476951.1, ENST00000608377.5
      Conserved Domains (1) summary
      pfam03028
      Location:102788
      Dynein_heavy; Dynein heavy chain and region D6 of dynein motor

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      11598470..11969748
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011523703.3XP_011522005.1  dynein axonemal heavy chain 9 isoform X1

      UniProtKB/TrEMBL
      E7EP17
      Conserved Domains (8) summary
      pfam03028
      Location:37904491
      Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
      pfam08385
      Location:212789
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam08393
      Location:12951699
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12775
      Location:24392710
      AAA_7; P-loop containing dynein motor region D3
      pfam12777
      Location:30673410
      MT; Microtubule-binding stalk of dynein motor
      pfam12780
      Location:27883055
      AAA_8; P-loop containing dynein motor region D4
      pfam12781
      Location:34383650
      AAA_9; ATP-binding dynein motor region D5
      cl21455
      Location:18322062
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    2. XM_017024292.3XP_016879781.1  dynein axonemal heavy chain 9 isoform X2

      UniProtKB/TrEMBL
      E7EP17
    3. XM_017024294.2XP_016879783.1  dynein axonemal heavy chain 9 isoform X4

    4. XM_017024295.2XP_016879784.1  dynein axonemal heavy chain 9 isoform X5

    5. XM_017024293.2XP_016879782.1  dynein axonemal heavy chain 9 isoform X3

      UniProtKB/TrEMBL
      B0I1R1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      11506869..11877746
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315300.1XP_054171275.1  dynein axonemal heavy chain 9 isoform X1

    2. XM_054315301.1XP_054171276.1  dynein axonemal heavy chain 9 isoform X2

    3. XM_054315303.1XP_054171278.1  dynein axonemal heavy chain 9 isoform X4

    4. XM_054315304.1XP_054171279.1  dynein axonemal heavy chain 9 isoform X5

    5. XM_054315302.1XP_054171277.1  dynein axonemal heavy chain 9 isoform X3