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Aliases for DNAH5 Gene

Aliases for DNAH5 Gene

  • Dynein Axonemal Heavy Chain 5 2 3
  • Dynein, Axonemal, Heavy Polypeptide 5 2 3
  • Axonemal Beta Dynein Heavy Chain 5 3 4
  • Dynein, Axonemal, Heavy Chain 5 3 5
  • Ciliary Dynein Heavy Chain 5 3 4
  • DNAHC5 3 4
  • HL1 3 4
  • Dynein Heavy Chain 5 2
  • KIAA1603 4
  • CILD3 3
  • KTGNR 3
  • PCD 3

External Ids for DNAH5 Gene

Previous GeneCards Identifiers for DNAH5 Gene

  • GC05M013686
  • GC05M013971
  • GC05M013743
  • GC05M013744

Summaries for DNAH5 Gene

Entrez Gene Summary for DNAH5 Gene

  • This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009]

GeneCards Summary for DNAH5 Gene

DNAH5 (Dynein Axonemal Heavy Chain 5) is a Protein Coding gene. Diseases associated with DNAH5 include ciliary dyskinesia, primary, 3, with or without situs inversus and ciliary dyskinesia, primary, 1, with or without situs inversus. 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 microtubule motor activity. An important paralog of this gene is DNAH1.

UniProtKB/Swiss-Prot for DNAH5 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. Required for structural and functional integrity of the cilia of ependymal cells lining the brain ventricles.

Gene Wiki entry for DNAH5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAH5 Gene

Genomics for DNAH5 Gene

Genomic Location for DNAH5 Gene

Chromosome:
5
Start:
13,690,328 bp from pter
End:
14,011,759 bp from pter
Size:
321,432 bases
Orientation:
Minus strand

Genomic View for DNAH5 Gene

Genes around DNAH5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAH5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAH5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAH5 Gene

Proteins for DNAH5 Gene

  • Protein details for DNAH5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TE73-DYH5_HUMAN
    Recommended name:
    Dynein heavy chain 5, axonemal
    Protein Accession:
    Q8TE73
    Secondary Accessions:
    • Q92860
    • Q96L74
    • Q9H5S7
    • Q9HCG9

    Protein attributes for DNAH5 Gene

    Size:
    4624 amino acids
    Molecular mass:
    529021 Da
    Quaternary structure:
    • Consists of at least two heavy chains and a number of intermediate and light chains.
    SequenceCaution:
    • Sequence=BAB15543.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for DNAH5 Gene

Proteomics data for DNAH5 Gene at MOPED

Post-translational modifications for DNAH5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DNAH5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DNAH5 Gene

Domains & Families for DNAH5 Gene

Gene Families for DNAH5 Gene

Suggested Antigen Peptide Sequences for DNAH5 Gene

Graphical View of Domain Structure for InterPro Entry

Q8TE73

UniProtKB/Swiss-Prot:

DYH5_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 DNAH5: view

Function for DNAH5 Gene

Molecular function for DNAH5 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. Required for structural and functional integrity of the cilia of ependymal cells lining the brain ventricles.
genes like me logo Genes that share phenotypes with DNAH5: view

Human Phenotype Ontology for DNAH5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for DNAH5 Gene

miRTarBase miRNAs that target DNAH5

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for DNAH5 Gene

Localization for DNAH5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAH5 Gene

Cytoplasm, cytoskeleton, cilium axoneme.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DNAH5 Gene COMPARTMENTS Subcellular localization image for DNAH5 gene
Compartment Confidence
cytoskeleton 5
nucleus 3
mitochondrion 2
cytosol 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for DNAH5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005858 axonemal dynein complex IEA --
GO:0030286 dynein complex IEA --
genes like me logo Genes that share ontologies with DNAH5: view

Pathways & Interactions for DNAH5 Gene

genes like me logo Genes that share pathways with DNAH5: view

Pathways by source for DNAH5 Gene

1 KEGG pathway for DNAH5 Gene

Gene Ontology (GO) - Biological Process for DNAH5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007018 microtubule-based movement IEA --
GO:0008152 metabolic process IEA --
GO:0042384 cilium assembly IMP 16492982
genes like me logo Genes that share ontologies with DNAH5: view

No data available for SIGNOR curated interactions for DNAH5 Gene

Drugs & Compounds for DNAH5 Gene

No Compound Related Data Available

Transcripts for DNAH5 Gene

Unigene Clusters for DNAH5 Gene

Dynein, axonemal, heavy chain 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DNAH5 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
SP1: - -
SP2:
SP3:
SP4:

ExUns: 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 ^ 49 ^ 50 ^ 51 ^ 52 ^
SP1:
SP2:
SP3:
SP4:

ExUns: 53 ^ 54 ^ 55 ^ 56 ^ 57 ^ 58 ^ 59 ^ 60a · 60b ^ 61 ^ 62 ^ 63 ^ 64 ^ 65 ^ 66 ^ 67 ^ 68 ^ 69 ^ 70 ^ 71 ^ 72 ^ 73 ^ 74 ^ 75 ^ 76 ^ 77 ^
SP1: -
SP2: -
SP3:
SP4:

ExUns: 78 ^ 79 ^ 80 ^ 81a ·
SP1:
SP2:
SP3:
SP4:

Relevant External Links for DNAH5 Gene

GeneLoc Exon Structure for
DNAH5
ECgene alternative splicing isoforms for
DNAH5

Expression for DNAH5 Gene

mRNA expression in normal human tissues for DNAH5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DNAH5 Gene

This gene is overexpressed in Pituitary (x7.7) and Lung (x4.6).

Protein differential expression in normal tissues from HIPED for DNAH5 Gene

This gene is overexpressed in Liver (24.7) and Blymphocyte (16.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for DNAH5 Gene



SOURCE GeneReport for Unigene cluster for DNAH5 Gene Hs.212360

genes like me logo Genes that share expression patterns with DNAH5: view

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for DNAH5 Gene

Orthologs for DNAH5 Gene

This gene was present in the common ancestor of animals.

Orthologs for DNAH5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DNAH5 35
  • 88.96 (n)
  • 91.73 (a)
DNAH5 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DNAH5 35
  • 89.19 (n)
  • 90.81 (a)
DNAH5 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dnah5 35
  • 85.51 (n)
  • 89.68 (a)
Dnah5 16
Dnah5 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DNAH5 35
  • 99.34 (n)
  • 99.35 (a)
DNAH5 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DNAH5 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNAH5 36
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNAH5 35
  • 74.46 (n)
  • 78.64 (a)
DNAH5 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DNAH5 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnah5 35
  • 73.53 (n)
  • 81.18 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.34002 35
zebrafish
(Danio rerio)
Actinopterygii dnah5 36
  • 86 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG9492 37
  • 58 (a)
Dhc64C 37
  • 27 (a)
kl-2 37
  • 32 (a)
kl-3 37
  • 59 (a)
CG9492 35
  • 57.46 (n)
  • 56.04 (a)
CG9492 36
  • 54 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003271 35
  • 56.93 (n)
  • 56.64 (a)
worm
(Caenorhabditis elegans)
Secernentea dhc-1 37
  • 27 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 72 (a)
OneToMany
-- 36
  • 73 (a)
OneToMany
CSA.4159 36
  • 60 (a)
OneToMany
Species with no ortholog for DNAH5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)

Evolution for DNAH5 Gene

ENSEMBL:
Gene Tree for DNAH5 (if available)
TreeFam:
Gene Tree for DNAH5 (if available)

Paralogs for DNAH5 Gene

(18) SIMAP similar genes for DNAH5 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with DNAH5: view

Variants for DNAH5 Gene

Sequence variations from dbSNP and Humsavar for DNAH5 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs339445 - 13,944,403(+) ACGCT(A/C)TGCTT intron-variant, nc-transcript-variant, reference, missense
rs1530496 - 13,931,231(-) GAAGG(A/G)AGAGA nc-transcript-variant, reference, missense
rs1530498 - 13,902,111(-) ATGTT(A/G)CATTT nc-transcript-variant, reference, missense
rs10078391 - 13,811,666(+) GGCCT(C/T)GAAGC nc-transcript-variant, reference, missense
rs10513155 - 13,788,777(+) TCCAC(A/C)AAGAG nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for DNAH5 Gene

Variant ID Type Subtype PubMed ID
nsv880696 CNV Gain 21882294
nsv830208 CNV Gain 17160897
esv2729796 CNV Deletion 23290073
nsv880420 CNV Gain 21882294
nsv518158 CNV Loss 19592680
esv269593 CNV Insertion 20981092
nsv516415 CNV Gain+Loss 19592680
esv2729797 CNV Deletion 23290073
esv2469450 CNV Insertion 19546169
esv1927773 CNV Deletion 18987734
esv2729798 CNV Deletion 23290073
esv2729799 CNV Deletion 23290073
esv1601219 CNV Insertion 17803354
nsv4723 CNV Insertion 18451855
esv2526226 CNV Deletion 19546169
esv2193030 CNV Deletion 18987734
esv5337 CNV Deletion 18987735
esv2729800 CNV Deletion 23290073
esv8502 CNV Loss 19470904
esv997684 CNV Deletion 20482838
esv1570352 CNV Deletion 17803354
esv270755 CNV Insertion 20981092

Variation tolerance for DNAH5 Gene

Residual Variation Intolerance Score: 96.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 28.60; 99.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DNAH5 Gene

HapMap Linkage Disequilibrium report
DNAH5
Human Gene Mutation Database (HGMD)
DNAH5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAH5 Gene

Disorders for DNAH5 Gene

MalaCards: The human disease database

(11) MalaCards diseases for DNAH5 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 3, with or without situs inversus
  • ciliary dyskinesia, primary, 3
ciliary dyskinesia, primary, 1, with or without situs inversus
  • kartagener syndrome
primary ciliary dyskinesia
  • kartagener syndrome
kartagener syndrome
  • kartagener's syndrome
bronchiectasis
  • kartagener syndrome
- elite association - COSMIC cancer census association via MalaCards
Search DNAH5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DYH5_HUMAN
  • Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269 PubMed:11062149, ECO:0000269 PubMed:16627867, ECO:0000269 PubMed:25186273}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Kartagener syndrome (KTGS) [MIM:244400]: An autosomal recessive disorder characterized by the association of primary ciliary dyskinesia with situs inversus. Clinical features include recurrent respiratory infections, bronchiectasis, infertility, and lateral transposition of the viscera of the thorax and abdomen. The situs inversus is most often total, although it can be partial in some cases (isolated dextrocardia or isolated transposition of abdominal viscera). {ECO:0000269 PubMed:11788826}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DNAH5

Genetic Association Database (GAD)
DNAH5
Human Genome Epidemiology (HuGE) Navigator
DNAH5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DNAH5
genes like me logo Genes that share disorders with DNAH5: view

No data available for Genatlas for DNAH5 Gene

Publications for DNAH5 Gene

  1. Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. (PMID: 11788826) Olbrich H. … Omran H. (Nat. Genet. 2002) 2 3 4 67
  2. Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. (PMID: 19357118) Failly M. … Blouin J.L. (J. Med. Genet. 2009) 3 23
  3. Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia. (PMID: 18492703) Zuccarello D. … Foresta C. (Hum. Reprod. 2008) 3 23
  4. 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
  5. Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia. (PMID: 17515466) Kennedy M.P. … Knowles M.R. (Circulation 2007) 3 23

Products for DNAH5 Gene

Sources for DNAH5 Gene

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