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Aliases for DNAH8 Gene

Aliases for DNAH8 Gene

  • Dynein Axonemal Heavy Chain 8 2 3
  • Dynein, Axonemal, Heavy Polypeptide 8 2 3
  • Axonemal Beta Dynein Heavy Chain 8 3 4
  • Dynein, Axonemal, Heavy Chain 8 3 5
  • Ciliary Dynein Heavy Chain 8 3 4
  • ATPase 3
  • Hdhc9 3

External Ids for DNAH8 Gene

Previous GeneCards Identifiers for DNAH8 Gene

  • GC06P038692
  • GC06P038729
  • GC06P038737
  • GC06P038791
  • GC06P038685
  • GC06P038408

Summaries for DNAH8 Gene

Entrez Gene Summary for DNAH8 Gene

  • The protein encoded by this gene is a heavy chain of an axonemal dynein involved in sperm and respiratory cilia motility. Axonemal dyneins generate force through hydrolysis of ATP and binding to microtubules. [provided by RefSeq, Jan 2012]

GeneCards Summary for DNAH8 Gene

DNAH8 (Dynein Axonemal Heavy Chain 8) is a Protein Coding gene. Diseases associated with DNAH8 include Colchicine Resistance and Wilson Disease. 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 DNAH8 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. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAH8 Gene

Genomics for DNAH8 Gene

Regulatory Elements for DNAH8 Gene

Enhancers for DNAH8 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 DNAH8 on UCSC Golden Path with GeneCards custom track

Promoters for DNAH8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DNAH8 on UCSC Golden Path with GeneCards custom track

Genomic Location for DNAH8 Gene

Chromosome:
6
Start:
38,715,332 bp from pter
End:
39,030,798 bp from pter
Size:
315,467 bases
Orientation:
Plus strand

Genomic View for DNAH8 Gene

Genes around DNAH8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAH8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAH8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAH8 Gene

Proteins for DNAH8 Gene

  • Protein details for DNAH8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96JB1-DYH8_HUMAN
    Recommended name:
    Dynein heavy chain 8, axonemal
    Protein Accession:
    Q96JB1
    Secondary Accessions:
    • O00438
    • Q5JYI2
    • Q5T2M3
    • Q5T2M4
    • Q5TG00
    • Q9UEM4

    Protein attributes for DNAH8 Gene

    Size:
    4490 amino acids
    Molecular mass:
    514664 Da
    Quaternary structure:
    • Consists of at least two heavy chains and a number of intermediate and light chains.
    SequenceCaution:
    • Sequence=CAI19770.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI19821.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI19822.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI20293.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI20294.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI21587.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI21588.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI42435.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI42436.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for DNAH8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNAH8 Gene

Proteomics data for DNAH8 Gene at MOPED

Post-translational modifications for DNAH8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DNAH8 Gene

No data available for DME Specific Peptides for DNAH8 Gene

Domains & Families for DNAH8 Gene

Gene Families for DNAH8 Gene

Suggested Antigen Peptide Sequences for DNAH8 Gene

Graphical View of Domain Structure for InterPro Entry

Q96JB1

UniProtKB/Swiss-Prot:

DYH8_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 DNAH8: view

Function for DNAH8 Gene

Molecular function for DNAH8 Gene

GENATLAS Biochemistry:
dynein,axonemal,motor protein interacting with microtubules,heavy chain 8,putative outer arm,involved in intracellular movement of organelles and vesicles or in the orientation of the mitotic spindle apparatus,with ATPase activity
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. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity).

Gene Ontology (GO) - Molecular Function for DNAH8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016887 ATPase activity IEA --
genes like me logo Genes that share ontologies with DNAH8: view
genes like me logo Genes that share phenotypes with DNAH8: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DNAH8 Gene

Localization for DNAH8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAH8 Gene

Cytoplasm, cytoskeleton, cilium axoneme.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DNAH8 Gene COMPARTMENTS Subcellular localization image for DNAH8 gene
Compartment Confidence
cytoskeleton 5
endoplasmic reticulum 4
cytosol 3
golgi apparatus 3
mitochondrion 3
nucleus 3
plasma membrane 3
vacuole 3
chloroplast 2
endosome 2
extracellular 2
lysosome 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for DNAH8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030286 dynein complex IEA,IDA 22863569
GO:0097228 sperm principal piece IEA --
genes like me logo Genes that share ontologies with DNAH8: view

Pathways & Interactions for DNAH8 Gene

genes like me logo Genes that share pathways with DNAH8: view

Pathways by source for DNAH8 Gene

1 KEGG pathway for DNAH8 Gene

Gene Ontology (GO) - Biological Process for DNAH8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001539 cilium or flagellum-dependent cell motility NAS 9373155
genes like me logo Genes that share ontologies with DNAH8: view

No data available for SIGNOR curated interactions for DNAH8 Gene

Drugs & Compounds for DNAH8 Gene

(70) Drugs for DNAH8 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(73) Additional Compounds for DNAH8 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DNAH8: view

Transcripts for DNAH8 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for DNAH8 Gene

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

ExUns: 26 ^ 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 ^
SP1:
SP2:
SP3:
SP4:

ExUns: 52 ^ 53 ^ 54 ^ 55 ^ 56 ^ 57 ^ 58 ^ 59 ^ 60 ^ 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 ^ 81 ^ 82 ^ 83 ^ 84 ^ 85 ^ 86 ^ 87a · 87b ^ 88 ^ 89 ^ 90 ^ 91 ^ 92 ^ 93 ^
SP1:
SP2:
SP3:
SP4:

Relevant External Links for DNAH8 Gene

GeneLoc Exon Structure for
DNAH8
ECgene alternative splicing isoforms for
DNAH8

Expression for DNAH8 Gene

mRNA expression in normal human tissues for DNAH8 Gene

mRNA differential expression in normal tissues according to GTEx for DNAH8 Gene

This gene is overexpressed in Testis (x35.1) and Spleen (x5.0).

Protein differential expression in normal tissues from HIPED for DNAH8 Gene

This gene is overexpressed in Neutrophil (26.2), Platelet (13.0), Plasma (8.7), Fetal heart (7.1), and Prostate (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DNAH8 Gene



SOURCE GeneReport for Unigene cluster for DNAH8 Gene Hs.520106

genes like me logo Genes that share expression patterns with DNAH8: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for DNAH8 Gene

Orthologs for DNAH8 Gene

This gene was present in the common ancestor of animals.

Orthologs for DNAH8 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DNAH8 35
  • 90.49 (n)
  • 94.05 (a)
DNAH8 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DNAH8 35
  • 91.01 (n)
  • 93.7 (a)
DNAH8 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dnah8 35
  • 83.24 (n)
  • 92.13 (a)
Dnah8 16
Dnah8 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DNAH8 35
  • 99.52 (n)
  • 99.55 (a)
DNAH8 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dnah8 35
  • 81.53 (n)
  • 90.75 (a)
oppossum
(Monodelphis domestica)
Mammalia DNAH8 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNAH8 36
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100858112 35
  • 76.61 (n)
  • 80.43 (a)
DNAH8 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 54 (a)
OneToMany
-- 36
  • 88 (a)
OneToMany
-- 36
  • 83 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii Dr.27733 35
si:dkeyp-87a6.1 36
  • 57 (a)
ManyToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6428 35
fruit fly
(Drosophila melanogaster)
Insecta CG9492 37
  • 56 (a)
kl-2 37
  • 31 (a)
kl-3 37
  • 60 (a)
kl-3 35
  • 60.7 (n)
  • 61.61 (a)
kl-3 36
  • 61 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007675 35
  • 55.29 (n)
  • 52.93 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.115 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 59 (a)
ManyToMany
Species with no ortholog for DNAH8:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DNAH8 Gene

ENSEMBL:
Gene Tree for DNAH8 (if available)
TreeFam:
Gene Tree for DNAH8 (if available)

Paralogs for DNAH8 Gene

genes like me logo Genes that share paralogs with DNAH8: view

Variants for DNAH8 Gene

Sequence variations from dbSNP and Humsavar for DNAH8 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs6935293 - 38,737,167(+) AAACA(A/G)CTGGG nc-transcript-variant, reference, missense
rs1738254 - 38,779,994(-) TAATC(C/T)CAGAC nc-transcript-variant, reference, missense
rs3823430 - 38,783,112(-) TCTGA(C/T)CCAGG nc-transcript-variant, reference, missense
rs1678674 - 38,791,603(+) AGATA(A/G)CCAAA nc-transcript-variant, reference, missense
rs874808 - 38,805,517(-) CCTCT(C/T)CTGTT nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for DNAH8 Gene

Variant ID Type Subtype PubMed ID
nsv885817 CNV Loss 21882294
dgv1942e1 CNV Complex 17122850
nsv428144 CNV Gain 18775914
nsv830642 CNV Loss 17160897
esv2656888 CNV Deletion 23128226
esv2731952 CNV Deletion 23290073
nsv830643 CNV Loss 17160897
nsv462915 CNV Loss 19166990
nsv470814 CNV Loss 18288195
nsv462916 CNV Loss 19166990
nsv5269 CNV Insertion 18451855
nsv885821 CNV Gain 21882294
nsv462918 CNV Loss 19166990
nsv819570 CNV Loss 19587683
nsv349927 CNV Loss 16902084
nsv528852 CNV Loss 19592680
esv2479524 CNV Deletion 19546169
esv2254109 CNV Deletion 18987734
esv3083 CNV Deletion 18987735
esv2731953 CNV Deletion 23290073
esv8343 CNV Loss 19470904
nsv823676 CNV Loss 20364138
nsv5270 CNV Insertion 18451855

Variation tolerance for DNAH8 Gene

Gene Damage Index Score: 26.19; 99.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DNAH8 Gene

Human Gene Mutation Database (HGMD)
DNAH8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAH8 Gene

Disorders for DNAH8 Gene

MalaCards: The human disease database

(38) MalaCards diseases for DNAH8 Gene - From: ClinVar, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
colchicine resistance
wilson disease
  • cerebral pseudosclerosis
mitochondrial complex v deficiency, nuclear type 1
  • mc5dn1
hereditary spastic paraplegia
  • familial spastic paraplegia
reducing body myopathy
  • reducing-body myopathy
- elite association - COSMIC cancer census association via MalaCards
Search DNAH8 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DNAH8

Genetic Association Database (GAD)
DNAH8
Human Genome Epidemiology (HuGE) Navigator
DNAH8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DNAH8
genes like me logo Genes that share disorders with DNAH8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DNAH8 Gene

Publications for DNAH8 Gene

  1. Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene. (PMID: 9373155) Neesen J. … Schmid M. (Gene 1997) 2 3 4 67
  2. Kelch Domain of Gigaxonin Interacts with Intermediate Filament Proteins Affected in Giant Axonal Neuropathy. (PMID: 26460568) Johnson-Kerner B.L. … Wichterle H. (PLoS ONE 2015) 3
  3. Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface. (PMID: 24307375) Watson C.M. … Carr I.M. (Hum. Mutat. 2014) 3
  4. ATP-driven remodeling of the linker domain in the dynein motor. (PMID: 22863569) Roberts A.J. … Burgess S.A. (Structure 2012) 3
  5. No effect of CYP450 and P-glycoprotein on hydroxyurea in vitro metabolism. (PMID: 19817872) Sassi H. … Hulin A. (Fundam Clin Pharmacol 2010) 23

Products for DNAH8 Gene

Sources for DNAH8 Gene

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