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

Gene ID: 1770, updated on 11-Apr-2024

Summary

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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
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Novel variants in DNAH9 lead to nonsyndromic severe asthenozoospermia. Tang D, et al. Reprod Biol Endocrinol, 2021 Feb 20. PMID 33610189, Free PMC Article
  2. Interaction between the DNAH9 gene and early smoke exposure in bronchial hyperresponsiveness. Dizier MH, et al. Eur Respir J, 2016 Apr. PMID 26797031
  3. Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia. Bartoloni L, et al. Genomics, 2001 Feb 15. PMID 11247663
  4. Assignment of the human dynein heavy chain gene DNAH17L to human chromosome 17p12 by in situ hybridization and radiation hybrid mapping. Bartoloni L, et al. Cytogenet Cell Genet, 1999. PMID 10393427
  5. Characterization of a novel human dynein-related gene that is specifically expressed in testis. Milisav I, et al. Mamm Genome, 1996 Sep. PMID 8703119

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clustering of Genetic Anomalies of Cilia Outer Dynein Arm and Central Apparatus in Patients with Transposition of the Great Arteries.
    Title: Clustering of Genetic Anomalies of Cilia Outer Dynein Arm and Central Apparatus in Patients with Transposition of the Great Arteries.
  2. 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.
  3. Whole-exome sequencing reveals a combination of extremely rare single-nucleotide polymorphism of DNAH9 and RSPH1 genes in a Japanese fetus with situs viscerum inversus.
    Title: Whole-exome sequencing reveals a combination of extremely rare single-nucleotide polymorphism of DNAH9 and RSPH1 genes in a Japanese fetus with situs viscerum inversus.
  4. Novel variants in DNAH9 lead to nonsyndromic severe asthenozoospermia.
    Title: Novel variants in DNAH9 lead to nonsyndromic severe asthenozoospermia.
  5. The beta-HC paralogs DNAH9 and DNAH11 achieved specific functional roles for the distinct axonemal compartments during evolution.
    Title: Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.
  6. DNAH9 is widely expressed in the airways.
    Title: Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus.
  7. DNAH9 gene has a role in early smoke exposure in bronchial hyperresponsiveness
    Title: Interaction between the DNAH9 gene and early smoke exposure in bronchial hyperresponsiveness.
  8. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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

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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)

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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.

Genomic

  1. NG_047047.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001372.4 → NP_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:3790 → 4476
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08385
    Location:212 → 789
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:1295 → 1699
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12775
    Location:2439 → 2710
    AAA_7; P-loop containing dynein motor region D3
    pfam12777
    Location:3067 → 3410
    MT; Microtubule-binding stalk of dynein motor
    pfam12780
    Location:2788 → 3055
    AAA_8; P-loop containing dynein motor region D4
    pfam12781
    Location:3438 → 3650
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:1832 → 2062
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  2. NM_004662.2 → NP_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:102 → 788
    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_011523703.3 → XP_011522005.1  dynein axonemal heavy chain 9 isoform X1

    UniProtKB/TrEMBL
    E7EP17
    Conserved Domains (8) summary
    pfam03028
    Location:3790 → 4491
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08385
    Location:212 → 789
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:1295 → 1699
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12775
    Location:2439 → 2710
    AAA_7; P-loop containing dynein motor region D3
    pfam12777
    Location:3067 → 3410
    MT; Microtubule-binding stalk of dynein motor
    pfam12780
    Location:2788 → 3055
    AAA_8; P-loop containing dynein motor region D4
    pfam12781
    Location:3438 → 3650
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:1832 → 2062
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  2. XM_017024292.3 → XP_016879781.1  dynein axonemal heavy chain 9 isoform X2

    UniProtKB/TrEMBL
    E7EP17

  3. XM_017024294.2 → XP_016879783.1  dynein axonemal heavy chain 9 isoform X4

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

  5. XM_017024293.2 → XP_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_054315300.1 → XP_054171275.1  dynein axonemal heavy chain 9 isoform X1

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

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

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

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

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NYC9.3 GenPept UniProtKB/Swiss-Prot:Q9NYC9

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