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Aliases for DNAH3 Gene

Aliases for DNAH3 Gene

  • Dynein Axonemal Heavy Chain 3 2 3 5
  • Dynein, Axonemal, Heavy Polypeptide 3 2 3
  • Axonemal Beta Dynein Heavy Chain 3 3 4
  • Ciliary Dynein Heavy Chain 3 3 4
  • DNAHC3-B 3 4
  • HSADHC3 3 4
  • DNAHC3B 3 4
  • Dynein Heavy Chain 3, Axonemal 3
  • Epididymis Luminal Protein 36 3
  • Axonemal Dynein, Heavy Chain 3
  • HEL-36 3
  • HDHC8 3

External Ids for DNAH3 Gene

Previous GeneCards Identifiers for DNAH3 Gene

  • GC16U990018
  • GC16M020871
  • GC16M020911
  • GC16M020910
  • GC16M020851
  • GC16M019480

Summaries for DNAH3 Gene

Entrez Gene Summary for DNAH3 Gene

  • This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2016]

GeneCards Summary for DNAH3 Gene

DNAH3 (Dynein Axonemal Heavy Chain 3) is a Protein Coding gene. Diseases associated with DNAH3 include Cecal 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 DNAH7.

UniProtKB/Swiss-Prot for DNAH3 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 CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAH3 Gene

Genomics for DNAH3 Gene

Regulatory Elements for DNAH3 Gene

Enhancers for DNAH3 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
GH16G020849 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.4 +308.3 308305 3.1 ARNT SIN3A ARID4B ZNF2 YY1 SLC30A9 GATA2 ZNF143 DEK MXD4 THUMPD1 DCUN1D3 LYRM1 DNAH3 TMEM159 PIR58963
GH16G020864 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.3 +292.9 292941 3.6 PKNOX1 ATF1 ARID4B SIN3A FEZF1 ZNF48 YY1 TCF12 ZNF121 GATA2 ACSM3 THUMPD1 DCUN1D3 LYRM1 DNAH3 TMEM159 PIR58963
GH16G020909 1.7 FANTOM5 Ensembl ENCODE dbSUPER 9.7 +247.0 247020 5.4 TBP HDGF PKNOX1 FOXA2 ZNF766 GATA2 FOS ETV6 EGR2 ZNF362 DCUN1D3 ACSM3 TMEM159 DNAH3 CRYM ACSM1 THUMPD1 LYRM1 PIR35456
GH16G021300 1.4 ENCODE dbSUPER 11.4 -142.6 -142606 3.9 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21 C16orf52 CRYM RRN3P1 ENSG00000260306 DNAH3 TMEM159 THUMPD1 EEF2K GC16M021264
GH16G021187 1.3 Ensembl ENCODE 12 -29.1 -29080 1.4 ARNT ARID4B SIN3A ZNF48 TCF12 ZNF143 FOS JUNB MXD4 REST TMEM159 DNAH3 ENSG00000262983 GC16P021165
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DNAH3 on UCSC Golden Path with GeneCards custom track

Promoters for DNAH3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000084301 241 1601 WRNIP1 ARID4B SIN3A GLI4 ZNF48 ZBTB7B GLIS2 ELK1 FOS KLF13

Genomic Location for DNAH3 Gene

Chromosome:
16
Start:
20,933,111 bp from pter
End:
21,159,441 bp from pter
Size:
226,331 bases
Orientation:
Minus strand

Genomic View for DNAH3 Gene

Genes around DNAH3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAH3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAH3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAH3 Gene

Proteins for DNAH3 Gene

  • Protein details for DNAH3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TD57-DYH3_HUMAN
    Recommended name:
    Dynein heavy chain 3, axonemal
    Protein Accession:
    Q8TD57
    Secondary Accessions:
    • O00437
    • O15437
    • O43326
    • Q3C0H2
    • Q8WUP9
    • Q9UEM3
    • Q9UEM5
    • Q9UG35

    Protein attributes for DNAH3 Gene

    Size:
    4116 amino acids
    Molecular mass:
    470771 Da
    Quaternary structure:
    • Consists of at least two heavy chains and a number of intermediate and light chains.

    Alternative splice isoforms for DNAH3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNAH3 Gene

Post-translational modifications for DNAH3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DNAH3 Gene

Domains & Families for DNAH3 Gene

Gene Families for DNAH3 Gene

Suggested Antigen Peptide Sequences for DNAH3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TD57

UniProtKB/Swiss-Prot:

DYH3_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 (By similarity).
  • 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 (By similarity).
Family:
  • Belongs to the dynein heavy chain family.
genes like me logo Genes that share domains with DNAH3: view

Function for DNAH3 Gene

Molecular function for DNAH3 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. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity).

Gene Ontology (GO) - Molecular Function for DNAH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity IEA --
GO:0003777 microtubule motor activity NAS 9256245
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with DNAH3: view
genes like me logo Genes that share phenotypes with DNAH3: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DNAH3 Gene

Localization for DNAH3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAH3 Gene

Cytoplasm, cytoskeleton, cilium axoneme.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DNAH3 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 3
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for DNAH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005858 axonemal dynein complex NAS 9256245
GO:0005874 microtubule IEA --
GO:0005929 cilium IEA --
genes like me logo Genes that share ontologies with DNAH3: view

Pathways & Interactions for DNAH3 Gene

genes like me logo Genes that share pathways with DNAH3: view

Pathways by source for DNAH3 Gene

1 KEGG pathway for DNAH3 Gene

Gene Ontology (GO) - Biological Process for DNAH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007018 microtubule-based movement IEA --
GO:0060285 cilium-dependent cell motility NAS 9256245
genes like me logo Genes that share ontologies with DNAH3: view

No data available for SIGNOR curated interactions for DNAH3 Gene

Drugs & Compounds for DNAH3 Gene

No Compound Related Data Available

Transcripts for DNAH3 Gene

Unigene Clusters for DNAH3 Gene

Dynein, axonemal, heavy chain 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for DNAH3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: - - - -
SP2:
SP3: -
SP4:
SP5:

ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43a · 43b ^ 44 ^ 45 ^ 46a · 46b ^ 47 ^
SP1: - - -
SP2: -
SP3:
SP4:
SP5: -

ExUns: 48 ^ 49 ^ 50a · 50b · 50c ^ 51a · 51b ^ 52 ^ 53 ^ 54 ^ 55 ^ 56 ^ 57 ^ 58 ^ 59 ^ 60 ^ 61 ^ 62 ^ 63 ^ 64a · 64b
SP1: -
SP2:
SP3:
SP4: -
SP5:

Relevant External Links for DNAH3 Gene

GeneLoc Exon Structure for
DNAH3
ECgene alternative splicing isoforms for
DNAH3

Expression for DNAH3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DNAH3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DNAH3 Gene

This gene is overexpressed in Testis (x19.3), Fallopian Tube (x7.9), Cervix - Endocervix (x4.8), and Lung (x4.1).

Protein differential expression in normal tissues from HIPED for DNAH3 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (46.7) and Cervix (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DNAH3 Gene



NURSA nuclear receptor signaling pathways regulating expression of DNAH3 Gene:

DNAH3

SOURCE GeneReport for Unigene cluster for DNAH3 Gene:

Hs.526500

mRNA Expression by UniProt/SwissProt for DNAH3 Gene:

Q8TD57-DYH3_HUMAN
Tissue specificity: Expressed primarily in trachea and testis, 2 tissues containing axonemal structures. Also expressed in lung.
genes like me logo Genes that share expression patterns with DNAH3: view

Primer Products

No data available for Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for DNAH3 Gene

Orthologs for DNAH3 Gene

This gene was present in the common ancestor of animals.

Orthologs for DNAH3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DNAH3 34 35
  • 99.35 (n)
cow
(Bos Taurus)
Mammalia DNAH3 35
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DNAH3 34 35
  • 88.6 (n)
rat
(Rattus norvegicus)
Mammalia Dnah3 34
  • 84.33 (n)
mouse
(Mus musculus)
Mammalia Dnah3 34 16 35
  • 84.3 (n)
oppossum
(Monodelphis domestica)
Mammalia DNAH3 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNAH3 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNAH3 34 35
  • 70.74 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 44 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia dnah3 34
  • 70.43 (n)
zebrafish
(Danio rerio)
Actinopterygii DNAH3 35
  • 70 (a)
OneToOne
si:dkey-161j23.4 34
  • 67.65 (n)
wufj36g10 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002009 34
  • 55.69 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG17150 34 35
  • 55.61 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 64 (a)
OneToOne
Species where no ortholog for DNAH3 was found in the sources mined by GeneCards:
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 DNAH3 Gene

ENSEMBL:
Gene Tree for DNAH3 (if available)
TreeFam:
Gene Tree for DNAH3 (if available)

Paralogs for DNAH3 Gene

(11) SIMAP similar genes for DNAH3 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for DNAH3 Gene

genes like me logo Genes that share paralogs with DNAH3: view

Variants for DNAH3 Gene

Sequence variations from dbSNP and Humsavar for DNAH3 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
VAR_039412 A colorectal cancer sample
VAR_039416 A colorectal cancer sample
rs193921090 Uncertain significance 21,000,377(-) TTCTC(A/C)ACCTT intron-variant, reference, missense
rs1000009793 -- 21,090,412(+) CACAG(A/G)CACTA intron-variant
rs1000012342 -- 21,036,625(+) TGTCA(C/T)TTCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DNAH3 Gene

Variant ID Type Subtype PubMed ID
esv3553219 CNV deletion 23714750
esv3638160 CNV loss 21293372
nsv1111127 CNV tandem duplication 24896259
nsv1120320 CNV tandem duplication 24896259
nsv1131231 CNV deletion 24896259
nsv1150271 CNV duplication 26484159
nsv435666 CNV deletion 17901297
nsv436835 CNV insertion 17901297
nsv457444 CNV loss 19166990
nsv571622 CNV loss 21841781
nsv571623 CNV gain 21841781
nsv819009 CNV loss 19587683
nsv833166 CNV gain+loss 17160897

Variation tolerance for DNAH3 Gene

Residual Variation Intolerance Score: 96.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 21.55; 99.30% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DNAH3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNAH3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAH3 Gene

Disorders for DNAH3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DNAH3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
cecal disease
  • disorder of cecum
- elite association - COSMIC cancer census association via MalaCards
Search DNAH3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DNAH3

Genetic Association Database (GAD)
DNAH3
Human Genome Epidemiology (HuGE) Navigator
DNAH3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DNAH3
genes like me logo Genes that share disorders with DNAH3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DNAH3 Gene

Publications for DNAH3 Gene

  1. Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment. (PMID: 9256245) Chapelin C. … Amselem S. (FEBS Lett. 1997) 2 3 4 64
  2. 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 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. (PMID: 10493829) Loftus B.J. … Adams M.D. (Genomics 1999) 3 4 64

Products for DNAH3 Gene

Sources for DNAH3 Gene

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