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Aliases for DNAH17 Gene

Aliases for DNAH17 Gene

  • Dynein Axonemal Heavy Chain 17 2 3 5
  • Axonemal Dynein Heavy Chain-Like Protein 1 3 4
  • Ciliary Dynein Heavy Chain-Like Protein 1 3 4
  • Dynein, Axonemal, Heavy Polypeptide 17 2 3
  • Dynein, Axonemal, Heavy Chain Like 1 2 3
  • Axonemal Beta Dynein Heavy Chain 17 3 4
  • Dynein, Axonemal, Heavy Like 1 2 3
  • Dynein Light Chain 2, Axonemal 3 4
  • Ciliary Dynein Heavy Chain 17 3 4
  • DNAHL1 3 4
  • DNEL2 3 4
  • Dynein Heavy Chain 17, Axonemal 3
  • Axonemal Dynein Heavy Chain 3

External Ids for DNAH17 Gene

Previous HGNC Symbols for DNAH17 Gene

  • DNAHL1

Previous GeneCards Identifiers for DNAH17 Gene

  • GC17P076291
  • GC17M079807
  • GC17M076880
  • GC17M077016
  • GC17M077017
  • GC17M073931
  • GC17U900585
  • GC17M076416
  • GC17M071842

Summaries for DNAH17 Gene

Entrez Gene Summary for DNAH17 Gene

  • Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. DNAH17 is a heavy chain associated with axonemal dynein (Milisav and Affara, 1998 [PubMed 9545504]).[supplied by OMIM, Mar 2008]

GeneCards Summary for DNAH17 Gene

DNAH17 (Dynein Axonemal Heavy Chain 17) is a Protein Coding gene. 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 DNAH11.

UniProtKB/Swiss-Prot for DNAH17 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 DNAH17 Gene

Genomics for DNAH17 Gene

Regulatory Elements for DNAH17 Gene

Enhancers for DNAH17 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
GH17F078672 1.1 FANTOM5 ENCODE 47.2 -95.6 -95631 1.6 HDGF PKNOX1 ARNT CREB3L1 KLF17 NFXL1 ZNF2 ZEB1 ZNF121 ZNF366 DNAH17 CYTH1 ENSG00000279570 GC17P078652
GH17F078541 0.8 Ensembl ENCODE 26.3 +35.5 35490 1.2 TBP KLF1 PKNOX1 TAF1 JUN ZNF316 POLR2A ZNF366 NFYB NFE2 DNAH17 RN7SL454P GC17M078554
GH17F078537 0.6 Ensembl ENCODE 26.1 +39.3 39332 0.6 SOX5 SOX13 CEBPB ZNF384 CEBPG HMG20A ZNF664 ZNF121 ZNF366 RCOR2 DNAH17 RN7SL454P GC17M078554
GH17F078441 1.6 FANTOM5 Ensembl ENCODE 18.1 +134.6 134613 2.4 ATF1 MAX ZNF175 BRCA1 RARA ZNF121 FOS ZNF600 PRDM10 CREM PGS1 DNAH17 SOCS3 RNU6-638P C1QTNF1-AS1 CYTH1 USP36 TMC6 GC17M078388 DNAH17-AS1
GH17F078559 0.6 ENCODE 16.3 +17.5 17539 0.2 SCRT1 CTCF ZNF687 KLF1 JUN GLI4 REST RAD21 SCRT2 ZNF207 DNAH17 RNU6-638P GC17M078554
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around DNAH17 on UCSC Golden Path with GeneCards custom track

Genomic Location for DNAH17 Gene

Chromosome:
17
Start:
78,423,697 bp from pter
End:
78,577,432 bp from pter
Size:
153,736 bases
Orientation:
Minus strand

Genomic View for DNAH17 Gene

Genes around DNAH17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAH17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAH17 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAH17 Gene

Proteins for DNAH17 Gene

  • Protein details for DNAH17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UFH2-DYH17_HUMAN
    Recommended name:
    Dynein heavy chain 17, axonemal
    Protein Accession:
    Q9UFH2
    Secondary Accessions:
    • O00431
    • O15206
    • Q2M2Y1
    • Q6ZRQ2
    • Q8N7Q7

    Protein attributes for DNAH17 Gene

    Size:
    4485 amino acids
    Molecular mass:
    511787 Da
    Quaternary structure:
    • Consists of at least two heavy chains and a number of intermediate and light chains.
    SequenceCaution:
    • Sequence=CAA04165.1; Type=Frameshift; Positions=3502, 3533; Evidence={ECO:0000305}; Sequence=CAB59252.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for DNAH17 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNAH17 Gene

Post-translational modifications for DNAH17 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DNAH17 Gene

No data available for DME Specific Peptides for DNAH17 Gene

Domains & Families for DNAH17 Gene

Gene Families for DNAH17 Gene

Suggested Antigen Peptide Sequences for DNAH17 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UFH2

UniProtKB/Swiss-Prot:

DYH17_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.
  • Contains 3 TPR repeats.
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.
Similarity:
  • Contains 3 TPR repeats.
genes like me logo Genes that share domains with DNAH17: view

Function for DNAH17 Gene

Molecular function for DNAH17 Gene

GENATLAS Biochemistry:
dynein,axonemal,motor protein interacting with microtubules,heavy chain 17 (91kDa),outer arm,specifically expressed in testis,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 DNAH17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity IEA --
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 DNAH17: view
genes like me logo Genes that share phenotypes with DNAH17: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DNAH17 Gene

Localization for DNAH17 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAH17 Gene

Cytoplasm, cytoskeleton, cilium axoneme.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DNAH17 Gene COMPARTMENTS Subcellular localization image for DNAH17 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 3
cytosol 1
endoplasmic reticulum 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for DNAH17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005858 axonemal dynein complex NAS 9373155
GO:0005874 microtubule IEA --
GO:0005929 cilium IEA --
genes like me logo Genes that share ontologies with DNAH17: view

Pathways & Interactions for DNAH17 Gene

genes like me logo Genes that share pathways with DNAH17: view

Pathways by source for DNAH17 Gene

1 KEGG pathway for DNAH17 Gene

Gene Ontology (GO) - Biological Process for DNAH17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007018 microtubule-based movement IEA --
GO:0060285 cilium-dependent cell motility NAS 9373155
genes like me logo Genes that share ontologies with DNAH17: view

No data available for SIGNOR curated interactions for DNAH17 Gene

Transcripts for DNAH17 Gene

mRNA/cDNA for DNAH17 Gene

(4) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(11) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DNAH17 Gene

Dynein, axonemal, heavy chain 17:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DNAH17 Gene

No ASD Table

Relevant External Links for DNAH17 Gene

GeneLoc Exon Structure for
DNAH17
ECgene alternative splicing isoforms for
DNAH17

Expression for DNAH17 Gene

mRNA expression in normal human tissues for DNAH17 Gene

mRNA differential expression in normal tissues according to GTEx for DNAH17 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x13.6), Testis (x10.6), Whole Blood (x5.2), and Brain - Substantia nigra (x5.2).

Protein differential expression in normal tissues from HIPED for DNAH17 Gene

This gene is overexpressed in CD8 Tcells (42.0) and Synovial fluid (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DNAH17 Gene



NURSA nuclear receptor signaling pathways regulating expression of DNAH17 Gene:

DNAH17

SOURCE GeneReport for Unigene cluster for DNAH17 Gene:

Hs.375975

mRNA Expression by UniProt/SwissProt for DNAH17 Gene:

Q9UFH2-DYH17_HUMAN
Tissue specificity: Expressed in testis.
genes like me logo Genes that share expression patterns with DNAH17: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for DNAH17 Gene

Orthologs for DNAH17 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DNAH17 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DNAH17 34 35
  • 88.13 (n)
dog
(Canis familiaris)
Mammalia DNAH17 34 35
  • 87.85 (n)
mouse
(Mus musculus)
Mammalia Dnah17 34 16 35
  • 86.15 (n)
rat
(Rattus norvegicus)
Mammalia Dnah17 34
  • 85.81 (n)
oppossum
(Monodelphis domestica)
Mammalia DNAH17 35
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNAH17 35
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNAH17 34 35
  • 75.68 (n)
lizard
(Anolis carolinensis)
Reptilia DNAH17 35
  • 81 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii dnah9l 35
  • 57 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DYN1 35
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 66 (a)
OneToOne
Species where no ortholog for DNAH17 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DNAH17 Gene

ENSEMBL:
Gene Tree for DNAH17 (if available)
TreeFam:
Gene Tree for DNAH17 (if available)

Paralogs for DNAH17 Gene

Paralogs for DNAH17 Gene

(15) SIMAP similar genes for DNAH17 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with DNAH17: view

Variants for DNAH17 Gene

Sequence variations from dbSNP and Humsavar for DNAH17 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs10048153 -- 78,516,917(+) AGAGA(C/T)AGAGC intron-variant
rs10221268 -- 78,437,725(+) TCCAG(A/G)ATGCC reference, synonymous-codon
rs10221269 -- 78,437,686(+) ATGCC(C/T)GTGGG reference, synonymous-codon
rs1036990 -- 78,429,533(+) CTCTC(A/C)CAAGG intron-variant
rs1036992 -- 78,535,974(-) AGGGA(A/G)GTTTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DNAH17 Gene

Variant ID Type Subtype PubMed ID
dgv1518n106 CNV deletion 24896259
dgv428e201 CNV deletion 23290073
dgv5789n54 CNV gain 21841781
esv2185799 CNV deletion 18987734
esv2301284 CNV deletion 18987734
esv2512413 CNV insertion 19546169
esv2650648 CNV deletion 19546169
esv2658314 CNV deletion 23128226
esv2674887 CNV deletion 23128226
esv2716309 CNV deletion 23290073
esv2716310 CNV deletion 23290073
esv2716311 CNV deletion 23290073
esv2716312 CNV deletion 23290073
esv2716313 CNV deletion 23290073
esv2716314 CNV deletion 23290073
esv2716315 CNV deletion 23290073
esv2716316 CNV deletion 23290073
esv3554827 CNV deletion 23714750
esv3554829 CNV deletion 23714750
esv995150 CNV deletion 20482838
esv997097 CNV deletion 20482838
nsv1070849 CNV deletion 25765185
nsv1071407 CNV deletion 25765185
nsv112223 CNV insertion 16902084
nsv1132877 CNV insertion 24896259
nsv1138584 CNV deletion 24896259
nsv1142229 CNV tandem duplication 24896259
nsv1142905 CNV tandem duplication 24896259
nsv1152422 CNV deletion 26484159
nsv457916 CNV gain 19166990
nsv470609 CNV loss 18288195
nsv475622 CNV novel sequence insertion 20440878
nsv512507 CNV loss 21212237
nsv520357 CNV loss 19592680
nsv521975 CNV gain 19592680
nsv524975 CNV loss 19592680
nsv527452 CNV gain 19592680
nsv576097 CNV loss 21841781
nsv576098 CNV gain 21841781
nsv833555 CNV loss 17160897
nsv952375 CNV deletion 24416366
nsv954565 CNV deletion 24416366

Variation tolerance for DNAH17 Gene

Gene Damage Index Score: 20.22; 99.05% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DNAH17 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNAH17

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAH17 Gene

Disorders for DNAH17 Gene

Relevant External Links for DNAH17

Genetic Association Database (GAD)
DNAH17
Human Genome Epidemiology (HuGE) Navigator
DNAH17
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DNAH17

No disorders were found for DNAH17 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DNAH17 Gene

Publications for DNAH17 Gene

  1. A potential human axonemal dynein heavy-chain gene maps to 17q25. (PMID: 9545504) Milisav I. … Affara N.A. (Mamm. Genome 1998) 2 3 4 64
  2. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G. … Wijmenga C. (Gut 2009) 3 46 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. 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) 3 4 64
  5. Amerindian-specific regions under positive selection harbour new lipid variants in Latinos. (PMID: 24886709) Ko A. … Pajukanta P. (Nat Commun 2014) 3 64

Products for DNAH17 Gene

Sources for DNAH17 Gene

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