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Aliases for DNAH5 Gene

Aliases for DNAH5 Gene

  • Dynein Axonemal Heavy Chain 5 2 3 5
  • Dynein, Axonemal, Heavy Polypeptide 5 2 3
  • Axonemal Beta Dynein Heavy Chain 5 3 4
  • Ciliary Dynein Heavy Chain 5 3 4
  • DNAHC5 3 4
  • HL1 3 4
  • Dynein Heavy Chain 5, Axonemal 3
  • 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 Primary Ciliary Dyskinesia. 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 DNAH8.

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

Regulatory Elements for DNAH5 Gene

Enhancers for DNAH5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F014010 1.1 Ensembl ENCODE 39.5 +0.2 162 2.4 ATF1 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 YY1 GLIS2 ELK1 ZNF207 DNAH5 TRIO GC05M014008 GC05M013990
GH05F014004 0.6 ENCODE 38.8 +5.4 5367 3.0 CTCF BCOR MAZ ZNF493 CEBPB ZMYM3 EBF1 PRDM2 ZNF512 ZNF580 DNAH5 TRIO GC05M014008 GC05M013990
GH05F014008 0.8 Ensembl ENCODE 36.6 +2.7 2696 1.8 SOX13 ELF3 SAP130 CEBPG RAD21 ZSCAN9 RARA YY1 ZNF366 HNF4G DNAH5 TRIO GC05M014008 GC05M013990
GH05F014032 1.5 FANTOM5 Ensembl ENCODE 29.7 -25.6 -25587 10.3 PKNOX1 SIN3A GLI4 BRCA1 ZNF2 ZNF121 GLIS2 FOS SP3 TSHZ1 DNAH5 TRIO
GH05F013993 0.7 Ensembl ENCODE 27.3 +17.3 17281 2.3 MAFG MAFF ZFHX2 ZNF316 MAFK EMSY EGR2 NFE2L2 DNAH5 GC05M013990 GC05P013867
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around DNAH5 on UCSC Golden Path with GeneCards custom track

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

Post-translational modifications for DNAH5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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.

Gene Ontology (GO) - Molecular Function for DNAH5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity IEA --
GO:0003777 microtubule motor activity NAS 8812413
GO:0005524 ATP binding IEA --
GO:0016887 ATPase activity IEA --
genes like me logo Genes that share ontologies with DNAH5: view
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 Models for DNAH5 Gene

MGI Knock Outs for DNAH5:

Animal Model Products

miRNA for DNAH5 Gene

miRTarBase miRNAs that target DNAH5

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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:0005575 cellular_component ND --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005858 axonemal dynein complex IEA --
GO:0005874 microtubule 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:0003341 cilium movement IMP 11062149
GO:0007018 microtubule-based movement IEA --
GO:0007368 determination of left/right symmetry IMP 11788826
GO:0007507 heart development IEA --
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with DNAH5: view

No data available for SIGNOR curated interactions for DNAH5 Gene

Transcripts for DNAH5 Gene

Unigene Clusters for DNAH5 Gene

Dynein, axonemal, heavy chain 5:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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, MaxQB, and MOPED for DNAH5 Gene



NURSA nuclear receptor signaling pathways regulating expression of DNAH5 Gene:

DNAH5

SOURCE GeneReport for Unigene cluster for DNAH5 Gene:

Hs.212360
genes like me logo Genes that share expression patterns with DNAH5: view

Primer Products

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia DNAH5 34 35
  • 99.34 (n)
dog
(Canis familiaris)
Mammalia DNAH5 34 35
  • 89.19 (n)
cow
(Bos Taurus)
Mammalia DNAH5 34 35
  • 88.96 (n)
mouse
(Mus musculus)
Mammalia Dnah5 34 16 35
  • 85.51 (n)
oppossum
(Monodelphis domestica)
Mammalia DNAH5 35
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNAH5 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNAH5 34 35
  • 74.46 (n)
lizard
(Anolis carolinensis)
Reptilia DNAH5 35
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnah5 34
  • 73.53 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.34002 34
zebrafish
(Danio rerio)
Actinopterygii dnah5 35
  • 86 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta kl-3 36
  • 59 (a)
CG9492 36 34 35
  • 57.46 (n)
kl-2 36
  • 32 (a)
Dhc64C 36
  • 27 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003271 34
  • 56.93 (n)
worm
(Caenorhabditis elegans)
Secernentea dhc-1 36
  • 27 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 73 (a)
OneToMany
-- 35
  • 72 (a)
OneToMany
CSA.4159 35
  • 60 (a)
OneToMany
Species where no ortholog for DNAH5 was found in the sources mined by GeneCards:
  • 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
rs542708170 Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644] 13,864,632(+) GCTTT(C/T)GACAT nc-transcript-variant, reference, missense
rs727502973 Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644], Uncertain significance 13,788,721(-) TGAAG(C/G)TGCAG nc-transcript-variant, reference, missense
rs74799487 Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644] 13,844,961(-) TCCTC(G/T)GTTTT intron-variant, nc-transcript-variant, reference, missense
rs755407407 Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644], Likely pathogenic 13,762,777(+) TCGTC(C/G)AGGAA reference, missense
rs77377082 Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644] 13,788,835(-) CTGGT(C/T)TGATA nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv1074e214 CNV gain 21293372
dgv3044n106 CNV deletion 24896259
dgv5577n100 CNV gain 25217958
esv1570352 CNV deletion 17803354
esv1601219 CNV insertion 17803354
esv1927773 CNV deletion 18987734
esv2193030 CNV deletion 18987734
esv2469450 CNV insertion 19546169
esv2526226 CNV deletion 19546169
esv2729796 CNV deletion 23290073
esv2729797 CNV deletion 23290073
esv2729798 CNV deletion 23290073
esv2729799 CNV deletion 23290073
esv2729800 CNV deletion 23290073
esv2760949 CNV gain+loss 21179565
esv2763438 CNV gain 21179565
esv3294496 CNV deletion 24192839
esv3305315 CNV mobile element insertion 20981092
esv3393314 CNV insertion 20981092
esv3432260 CNV insertion 20981092
esv3565557 CNV deletion 23714750
esv3565558 CNV deletion 23714750
esv3570000 CNV loss 25503493
esv3604075 CNV gain 21293372
esv3894136 CNV gain 25118596
esv5337 CNV loss 18987735
esv8502 CNV loss 19470904
esv997684 CNV deletion 20482838
nsv1072529 CNV deletion 25765185
nsv1072533 CNV deletion 25765185
nsv1117540 CNV deletion 24896259
nsv1140516 CNV deletion 24896259
nsv4723 CNV insertion 18451855
nsv478312 CNV novel sequence insertion 20440878
nsv516415 CNV gain+loss 19592680
nsv518158 CNV loss 19592680
nsv830208 CNV gain 17160897
nsv955766 CNV deletion 24416366
nsv956444 CNV deletion 24416366

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

Human Gene Mutation Database (HGMD)
DNAH5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
  • primary ciliary dyskinesia 3
primary ciliary dyskinesia
  • ciliary motility disorder
kartagener syndrome
  • kartagener's syndrome
bronchiectasis
  • kartagener syndrome
ciliary dyskinesia, primary, 1, with or without situs inversus
  • primary ciliary dyskinesia 1
- 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:11788826, ECO:0000269 PubMed:16627867, ECO:0000269 PubMed:25186273}. 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 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 22 46 64
  2. Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia. (PMID: 18492703) Zuccarello D. … Foresta C. (Hum. Reprod. 2008) 3 22 46 64
  3. 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 64
  4. A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order. (PMID: 22036096) Ramasamy A. … Jarvis D.L. (J. Allergy Clin. Immunol. 2011) 3 46 64
  5. 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 22 64

Products for DNAH5 Gene

Sources for DNAH5 Gene

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