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Aliases for DNAH9 Gene

Aliases for DNAH9 Gene

  • Dynein Axonemal Heavy Chain 9 2 3
  • Dynein, Axonemal, Heavy Polypeptide 9 2 3
  • Axonemal Beta Dynein Heavy Chain 9 3 4
  • Dynein, Axonemal, Heavy Chain 9 3 5
  • Ciliary Dynein Heavy Chain 9 3 4
  • DNAH17L 3 4
  • Dynein, Axonemal, Heavy Polypeptide 17-Like 2
  • DNAH9 Variant Protein 3
  • EC 3.1.26.3 63
  • EC 2.1.3.2 63
  • KIAA0357 4
  • Dnahc9 3
  • DNEL1 3
  • HL-20 3
  • DNAL1 4
  • DYH9 3
  • HL20 3

External Ids for DNAH9 Gene

Previous HGNC Symbols for DNAH9 Gene

  • DNAH17L

Previous GeneCards Identifiers for DNAH9 Gene

  • GC17P011867
  • GC17P012616
  • GC17P011444
  • GC17P011702
  • GC17P011442
  • GC17P011501

Summaries for DNAH9 Gene

Entrez Gene Summary for DNAH9 Gene

  • 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]

GeneCards Summary for DNAH9 Gene

DNAH9 (Dynein Axonemal Heavy Chain 9) is a Protein Coding gene. Diseases associated with DNAH9 include Perry Syndrome and Visceral Heterotaxy. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include ATPase activity and motor activity. An important paralog of this gene is DNAH1.

UniProtKB/Swiss-Prot for DNAH9 Gene

  • Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP.

Gene Wiki entry for DNAH9 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAH9 Gene

Genomics for DNAH9 Gene

Regulatory Elements for DNAH9 Gene

Enhancers for DNAH9 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DNAH9 on UCSC Golden Path with GeneCards custom track

Promoters for DNAH9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DNAH9 on UCSC Golden Path with GeneCards custom track

Genomic Location for DNAH9 Gene

Chromosome:
17
Start:
11,598,431 bp from pter
End:
11,970,168 bp from pter
Size:
371,738 bases
Orientation:
Plus strand

Genomic View for DNAH9 Gene

Genes around DNAH9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAH9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAH9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAH9 Gene

Proteins for DNAH9 Gene

  • Protein details for DNAH9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NYC9-DYH9_HUMAN
    Recommended name:
    Dynein heavy chain 9, axonemal
    Protein Accession:
    Q9NYC9
    Secondary Accessions:
    • A2VCQ8
    • O15064
    • O95494
    • Q9NQ28

    Protein attributes for DNAH9 Gene

    Size:
    4486 amino acids
    Molecular mass:
    511877 Da
    Quaternary structure:
    • Consists of at least two heavy chains and a number of intermediate and light chains.

    Alternative splice isoforms for DNAH9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNAH9 Gene

Proteomics data for DNAH9 Gene at MOPED

Selected DME Specific Peptides for DNAH9 Gene

Post-translational modifications for DNAH9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DNAH9 Gene

Domains & Families for DNAH9 Gene

Gene Families for DNAH9 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NYC9

UniProtKB/Swiss-Prot:

DYH9_HUMAN :
  • Dynein heavy chains probably consist of an N-terminal stem (which binds cargo and interacts with other dynein components), and the head or motor domain. The motor contains six tandemly-linked AAA domains in the head, which form a ring. A stalk-like structure (formed by two of the coiled coil domains) protrudes between AAA 4 and AAA 5 and terminates in a microtubule-binding site. A seventh domain may also contribute to this ring; it is not clear whether the N-terminus or the C-terminus forms this extra domain. There are four well-conserved and two non-conserved ATPase sites, one per AAA domain. Probably only one of these (within AAA 1) actually hydrolyzes ATP, the others may serve a regulatory function.
  • Belongs to the dynein heavy chain family.
Domain:
  • Dynein heavy chains probably consist of an N-terminal stem (which binds cargo and interacts with other dynein components), and the head or motor domain. The motor contains six tandemly-linked AAA domains in the head, which form a ring. A stalk-like structure (formed by two of the coiled coil domains) protrudes between AAA 4 and AAA 5 and terminates in a microtubule-binding site. A seventh domain may also contribute to this ring; it is not clear whether the N-terminus or the C-terminus forms this extra domain. There are four well-conserved and two non-conserved ATPase sites, one per AAA domain. Probably only one of these (within AAA 1) actually hydrolyzes ATP, the others may serve a regulatory function.
Family:
  • Belongs to the dynein heavy chain family.
genes like me logo Genes that share domains with DNAH9: view

Function for DNAH9 Gene

Molecular function for DNAH9 Gene

UniProtKB/Swiss-Prot Function:
Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP.

Enzyme Numbers (IUBMB) for DNAH9 Gene

Gene Ontology (GO) - Molecular Function for DNAH9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016887 ATPase activity IEA --
genes like me logo Genes that share ontologies with DNAH9: view

Phenotypes for DNAH9 Gene

genes like me logo Genes that share phenotypes with DNAH9: view

Animal Model Products

CRISPR Products

miRNA for DNAH9 Gene

miRTarBase miRNAs that target DNAH9

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DNAH9 Gene

Localization for DNAH9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAH9 Gene

Cytoplasm, cytoskeleton, cilium axoneme.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DNAH9 Gene COMPARTMENTS Subcellular localization image for DNAH9 gene
Compartment Confidence
cytoskeleton 5
cytosol 3
mitochondrion 2
endosome 1
golgi apparatus 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for DNAH9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005856 cytoskeleton TAS 8812413
genes like me logo Genes that share ontologies with DNAH9: view

Pathways & Interactions for DNAH9 Gene

genes like me logo Genes that share pathways with DNAH9: view

Pathways by source for DNAH9 Gene

1 KEGG pathway for DNAH9 Gene

Gene Ontology (GO) - Biological Process for DNAH9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006928 movement of cell or subcellular component TAS 8812413
GO:0007283 spermatogenesis TAS 8703119
genes like me logo Genes that share ontologies with DNAH9: view

No data available for SIGNOR curated interactions for DNAH9 Gene

Drugs & Compounds for DNAH9 Gene

No Compound Related Data Available

Transcripts for DNAH9 Gene

mRNA/cDNA for DNAH9 Gene

(3) REFSEQ mRNAs :
(14) Additional mRNA sequences :
(9) Selected AceView cDNA sequences:
(15) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DNAH9 Gene

Dynein, axonemal, heavy chain 9:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DNAH9 Gene

No ASD Table

Relevant External Links for DNAH9 Gene

GeneLoc Exon Structure for
DNAH9
ECgene alternative splicing isoforms for
DNAH9

Expression for DNAH9 Gene

mRNA expression in normal human tissues for DNAH9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DNAH9 Gene

This gene is overexpressed in Brain - Hypothalamus (x5.7), Brain - Caudate (basal ganglia) (x5.1), Brain - Hippocampus (x4.4), Testis (x4.1), and Brain - Nucleus accumbens (basal ganglia) (x4.0).

Protein differential expression in normal tissues from HIPED for DNAH9 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (61.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DNAH9 Gene



SOURCE GeneReport for Unigene cluster for DNAH9 Gene Hs.567259

genes like me logo Genes that share expression patterns with DNAH9: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for DNAH9 Gene

Orthologs for DNAH9 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DNAH9 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DNAH9 35
  • 85.92 (n)
  • 87.15 (a)
DNAH9 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DNAH9 35
  • 86.97 (n)
  • 88.76 (a)
DNAH9 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dnah9 35
  • 85.45 (n)
  • 87.81 (a)
Dnah9 16
Dnah9 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DNAH9 35
  • 99.35 (n)
  • 99.09 (a)
DNAH9 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dnah9 35
  • 85.23 (n)
  • 87.52 (a)
oppossum
(Monodelphis domestica)
Mammalia DNAH9 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 79 (a)
ManyToMany
-- 36
  • 37 (a)
ManyToMany
-- 36
  • 40 (a)
ManyToMany
chicken
(Gallus gallus)
Aves DNAH9 35
  • 75.31 (n)
  • 78.48 (a)
DNAH9 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DNAH9 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnah9 35
  • 73.04 (n)
  • 77.74 (a)
African clawed frog
(Xenopus laevis)
Amphibia dnah9-A 35
zebrafish
(Danio rerio)
Actinopterygii dnahc11 35
DNAH9 36
  • 78 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12799 35
fruit fly
(Drosophila melanogaster)
Insecta Dhc64C 37
  • 27 (a)
Dhc93AB 37
  • 58 (a)
kl-2 37
  • 30 (a)
kl-5 37
  • 86 (a)
Dhc93AB 35
  • 60.51 (n)
  • 59.78 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010435 35
  • 60.04 (n)
  • 60.49 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DYN1 36
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 64 (a)
ManyToMany
Species with no ortholog for DNAH9:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DNAH9 Gene

ENSEMBL:
Gene Tree for DNAH9 (if available)
TreeFam:
Gene Tree for DNAH9 (if available)

Paralogs for DNAH9 Gene

genes like me logo Genes that share paralogs with DNAH9: view

Variants for DNAH9 Gene

Sequence variations from dbSNP and Humsavar for DNAH9 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
VAR_036214 A breast cancer sample
VAR_036215 A breast cancer sample
VAR_036216 A breast cancer sample
rs17599639 - 11,608,163(+) GAATC(A/G)CCTAA reference, missense
rs9892256 - 11,619,765(+) GGGAC(A/G)ACTGC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for DNAH9 Gene

Variant ID Type Subtype PubMed ID
nsv907688 CNV Gain 21882294
nsv1982 CNV Insertion 18451855
nsv907689 CNV Gain 21882294
esv2715650 CNV Deletion 23290073
esv2676335 CNV Deletion 23128226
esv2663712 CNV Deletion 23128226
esv2636140 CNV Deletion 19546169
esv3161 CNV Deletion 18987735
esv2715652 CNV Deletion 23290073
esv1254302 CNV Deletion 17803354
esv1227452 CNV Insertion 17803354
esv2715653 CNV Deletion 23290073
esv2715654 CNV Deletion 23290073
esv1274728 CNV Deletion 17803354
esv2715655 CNV Deletion 23290073
esv2715656 CNV Deletion 23290073
esv2715657 CNV Deletion 23290073

Variation tolerance for DNAH9 Gene

Residual Variation Intolerance Score: 98.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 23.18; 99.52% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DNAH9 Gene

Human Gene Mutation Database (HGMD)
DNAH9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAH9 Gene

Disorders for DNAH9 Gene

MalaCards: The human disease database

(4) MalaCards diseases for DNAH9 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
perry syndrome
  • parkinsonism with alveolar hypoventilation and mental depression
visceral heterotaxy
  • heterotaxia
primary ciliary dyskinesia
  • kartagener syndrome
kartagener syndrome
  • kartagener's syndrome
- elite association - COSMIC cancer census association via MalaCards
Search DNAH9 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DNAH9

Genetic Association Database (GAD)
DNAH9
Human Genome Epidemiology (HuGE) Navigator
DNAH9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DNAH9
genes like me logo Genes that share disorders with DNAH9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DNAH9 Gene

Publications for DNAH9 Gene

  1. Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia. (PMID: 11247663) Bartoloni L. … Antonarakis S.E. (Genomics 2001) 2 3 4 23 67
  2. DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. (PMID: 18950741) Loges N.T. … Omran H. (Am. J. Hum. Genet. 2008) 3 23
  3. Axonemal dynein expression in human fetal tracheal epithelium. (PMID: 11839535) Carson J.L. … Collier A.M. (Am. J. Physiol. Lung Cell Mol. Physiol. 2002) 3 23
  4. Characterization of an axonemal dynein heavy chain expressed early in airway epithelial ciliogenesis. (PMID: 11104725) Reed W. … Collier A.M. (Am. J. Respir. Cell Mol. Biol. 2000) 3 23
  5. Multiple mouse chromosomal loci for dynein-based motility. (PMID: 8812413) Vaughan K.T. … Vallee R.B. (Genomics 1996) 2 3

Products for DNAH9 Gene

Sources for DNAH9 Gene

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