Free for academic non-profit institutions. Other users need a Commercial license

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.. Gene Ontology (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).

Additional gene information for DNAH3 Gene

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

GeneHancer (GH) Regulatory Elements for DNAH3 Gene

Promoters and enhancers for DNAH3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I021157 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.4 351 2.6 ARID4B SIN3A GLI4 ZBTB7B ZNF48 GLIS2 E2F8 ELK1 SP3 SP5 TMEM159 DNAH3 SMG1P4 SMG1P3 NPIPB4
GH16I021300 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.4 -142.6 -142605 3.9 CLOCK MLX ZFP64 DMAP1 YY1 SLC30A9 E2F8 ZNF143 ZNF263 SP3 CRYM CRYM-AS1 GC16M021264 RRN3P1 ENSG00000260306 C16orf52 DNAH3 TMEM159 EEF2K ENSG00000283421
GH16I021278 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.1 -118.9 -118940 0.4 ARID4B ZNF48 GLIS2 ZNF143 KLF7 SP3 SP5 MXD4 REST KAT8 CRYM DNAH3 TMEM159 LOC105371125 GC16M021264 LOC105371124
GH16I020849 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.4 +308.3 308304 3.1 ARNT ARID4B ZNF2 YY1 SLC30A9 ARID2 ZNF143 DEK RXRA MXD4 PIR58963 THUMPD1 LYRM1 DCUN1D3 DNAH3 TMEM159 GC16P020829 REXO5 ERI2
GH16I020864 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.3 +292.9 292941 3.6 PKNOX1 FEZF1 BATF IRF4 ZNF335 TCF12 ZNF23 ETV6 FOS ATF7 ACSM3 THUMPD1 LYRM1 DCUN1D3 DNAH3 TMEM159 PIR58963 ERI2 GC16P020829
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DNAH3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DNAH3 gene promoter:

Genomic Locations for DNAH3 Gene

Genomic Locations for DNAH3 Gene
chr16:20,933,111-21,159,441
(GRCh38/hg38)
Size:
226,331 bases
Orientation:
Minus strand
chr16:20,944,433-21,170,762
(GRCh37/hg19)

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

No Post-translational modifications

No data available for DME Specific Peptides for DNAH3 Gene

Domains & Families for DNAH3 Gene

Gene Families for DNAH3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

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).

Phenotypes From GWAS Catalog for DNAH3 Gene

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 --
GO:0008569 ATP-dependent microtubule motor activity, minus-end-directed IBA --
GO:0045503 dynein light chain binding IBA --
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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (2)
  • Nuclear membrane (2)
See all subcellular structures

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:0003341 cilium movement IBA --
GO:0007018 microtubule-based movement IEA --
GO:0036159 inner dynein arm assembly IBA --
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 33 34
  • 99.35 (n)
cow
(Bos Taurus)
Mammalia DNAH3 34
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DNAH3 33 34
  • 88.6 (n)
rat
(Rattus norvegicus)
Mammalia Dnah3 33
  • 84.33 (n)
mouse
(Mus musculus)
Mammalia Dnah3 33 16 34
  • 84.3 (n)
oppossum
(Monodelphis domestica)
Mammalia DNAH3 34
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNAH3 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNAH3 33 34
  • 70.74 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 44 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia dnah3 33
  • 70.43 (n)
zebrafish
(Danio rerio)
Actinopterygii DNAH3 34
  • 70 (a)
OneToOne
si:dkey-161j23.4 33
  • 67.65 (n)
wufj36g10 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002009 33
  • 55.69 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG17150 33 34
  • 55.61 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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

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 Variation AA Info Type
rs193921090 uncertain-significance, Malignant tumor of prostate 21,000,377(-) G/T coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant
VAR_039412 A colorectal cancer sample p.Ile484Leu
VAR_039416 A colorectal cancer sample p.Ser1608Phe
rs111539520 likely-benign, not specified 20,963,418(-) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs111770788 likely-benign, not specified 20,987,398(-) G/A coding_sequence_variant, genic_downstream_transcript_variant, synonymous_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)

Additional Variant Information 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

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

Additional Disease Information for DNAH3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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. 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 58
  2. 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 letters 1997) 2 3 4 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. (PMID: 10493829) Loftus BJ … Adams MD (Genomics 1999) 3 4 58

Products for DNAH3 Gene

Sources for DNAH3 Gene

Content
Loading form....