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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
  • Ciliary Dynein Heavy Chain 8 3 4
  • Hdhc9 3 6
  • Dynein Heavy Chain 8, Axonemal 3
  • ATPase 3

External Ids for DNAH8 Gene

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 torsion dystonia and breast adenoma. 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

Genomic Location for DNAH8 Gene

Start:
38,715,341 bp from pter
End:
39,030,798 bp from pter
Size:
315,458 bases
Orientation:
Plus strand

Genomic View for DNAH8 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DNAH8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAH8 Gene

Regulatory Elements 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 for DNAH8 Gene

Gene Families for DNAH8 Gene

HGNC:
  • DN :Axonemal dyneins

UniProtKB/Swiss-Prot:

DYH8_HUMAN
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:
    • Q96JB1
Family:
  • Belongs to the dynein heavy chain family.:
    • Q96JB1
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:0003777 microtubule motor activity NAS 9373155
GO:0005524 ATP binding IEA --
GO:0016887 ATPase activity IEA --
genes like me logo Genes that share ontologies with DNAH8: view

Phenotypes for DNAH8 Gene

GenomeRNAi human phenotypes for DNAH8:
genes like me logo Genes that share phenotypes with DNAH8: view

miRNA for DNAH8 Gene

miRTarBase miRNAs that target DNAH8

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
plasma membrane 4
chloroplast 3
cytosol 3
extracellular 3
mitochondrion 3
nucleus 3
vacuole 3
endosome 2
golgi apparatus 2
lysosome 2
peroxisome 2

Gene Ontology (GO) - Cellular Components for DNAH8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005858 axonemal dynein complex NAS 9373155
GO:0005874 microtubule IEA --
GO:0030286 dynein complex IDA 22863569
GO:0097228 sperm principal piece --
genes like me logo Genes that share ontologies with DNAH8: view

Pathways for DNAH8 Gene

SuperPathways for DNAH8 Gene

No Data Available

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
GO:0006200 obsolete ATP catabolic process --
GO:0007018 microtubule-based movement IEA --
GO:0008152 metabolic process NAS 9373155
genes like me logo Genes that share ontologies with DNAH8: view

No data available for Pathways by source for DNAH8 Gene

Compounds for DNAH8 Gene

(143) Novoseek inferred chemical compound relationships for DNAH8 Gene

Compound -log(P) Hits PubMed IDs
atp 93 247
adp 86.5 129
actomyosin 86.3 98
vanadate 79.9 74
amp-pnp 79.2 19
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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Testis (35.1) and Spleen (5.0).

Integrated Proteomics: protein expression 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 expressions with DNAH8: view

Orthologs for DNAH8 Gene

This gene was present in the common ancestor of animals.

Orthologs for DNAH8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DNAH8 36
  • 99.52 (n)
  • 99.55 (a)
DNAH8 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DNAH8 36
  • 90.49 (n)
  • 94.05 (a)
DNAH8 37
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DNAH8 36
  • 91.01 (n)
  • 93.7 (a)
DNAH8 37
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dnah8 36
  • 83.24 (n)
  • 92.13 (a)
Dnah8 37
  • 89 (a)
OneToOne
Dnahc8 16
oppossum
(Monodelphis domestica)
Mammalia DNAH8 37
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNAH8 37
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dnah8 36
  • 81.53 (n)
  • 90.75 (a)
chicken
(Gallus gallus)
Aves DNAH8 37
  • 84 (a)
OneToOne
LOC100858112 36
  • 76.61 (n)
  • 80.43 (a)
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 54 (a)
OneToMany
-- 37
  • 88 (a)
OneToMany
-- 37
  • 83 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6428 36
zebrafish
(Danio rerio)
Actinopterygii Dr.27733 36
si:dkeyp-87a6.1 37
  • 57 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007675 36
  • 55.29 (n)
  • 52.93 (a)
fruit fly
(Drosophila melanogaster)
Insecta kl-3 36
  • 60.7 (n)
  • 61.61 (a)
kl-3 37
  • 61 (a)
ManyToMany
kl-2 38
  • 31 (a)
kl-3 38
  • 60 (a)
CG9492 38
  • 56 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.115 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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

Selected SIMAP similar genes for DNAH8 Gene using alignment to 5 proteins:

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 MAF
rs717455 -- 38,791,791(+) TTTTT(G/T)TTTTT intron-variant
rs726108 -- 38,806,645(-) AGACC(A/G)TTCTG intron-variant
rs732447 -- 38,801,335(-) CCATA(C/T)GTTTC intron-variant
rs734057 -- 39,031,095(-) CCTTC(C/T)CCATT downstream-variant-500B
rs742727 -- 38,773,207(-) CATTA(A/G)GCATC intron-variant

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

Relevant External Links for DNAH8 Gene

HapMap Linkage Disequilibrium report
DNAH8
Human Gene Mutation Database (HGMD)
DNAH8

Disorders for DNAH8 Gene

(93) Novoseek inferred disease relationships for DNAH8 Gene

Disease -log(P) Hits PubMed IDs
atpase deficiency 71 7
menkes disease 68.4 8
spastic paraplegia hereditary 67.3 2
spastic paraplegia hereditary autosomal dominant 63.7 3
group b cockayne syndrome 62.2 3

Relevant External Links for DNAH8

Genetic Association Database (GAD)
DNAH8
Human Genome Epidemiology (HuGE) Navigator
DNAH8
genes like me logo Genes that share disorders with DNAH8: view

No data available for UniProtKB/Swiss-Prot 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
  2. The T complex distorter 2 candidate gene, Dnahc8, encodes at least two testis-specific axonemal dynein heavy chains that differ extensively at their amino and carboxyl termini. (PMID: 12297094) Samant S.A. … Pilder S.H. (Dev. Biol. 2002) 3 4
  3. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4
  4. Human V-ATPase gene can protect or predispose the host to pulmonary tuberculosis. (PMID: 19536151) Capparelli R. … Iannelli D. (Genes Immun. 2009) 3 49
  5. Replication of a genome-wide case-control study of esophageal squamous cell carcinoma. (PMID: 18649358) Ng D. … Taylor P.R. (Int. J. Cancer 2008) 3 49

Products for DNAH8 Gene

Sources for DNAH8 Gene

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