Aliases for DNAH17 Gene
Aliases for DNAH17 Gene
External Ids for DNAH17 Gene
- HGNC: 2946
- Entrez Gene: 8632
- Ensembl: ENSG00000187775
- OMIM: 610063
- UniProtKB: Q9UFH2
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
-
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. Diseases associated with DNAH17 include Amyotrophic Neuralgia and Brachial Plexus Neuropathy. 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 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).
Additional gene information for DNAH17 Gene
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAH17 Gene
Genomics for DNAH17 Gene
GeneHancer (GH) Regulatory Elements for DNAH17 Gene
Promoters and enhancers for DNAH17 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around DNAH17 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the DNAH17 gene promoter:
-
- HTF
- Ik-2
- AML1a
- Tal-1beta
- E47
- AhR
- Arnt
- AREB6
- FOXO3b
- FOXO3a
Regulatory Element Products
Genomic Locations for DNAH17 Gene
Genomic Locations for DNAH17 Gene
- chr17:78,423,697-78,577,432
- (GRCh38/hg38)
- Size:
- 153,736 bases
- Orientation:
- Minus strand
- chr17:76,419,778-76,573,476
- (GRCh37/hg19)
- Size:
- 153,699 bases
- Orientation:
- Minus strand
Genomic View for DNAH17 Gene
Genes around DNAH17 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q25.3 by Entrez Gene
- 17q25.3 by HGNC
- 17q25.3 by Ensembl
DNAH17 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for DNAH17 Gene
Post-translational modifications for DNAH17 Gene
Other Protein References for DNAH17 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for DNAH17 (DNAH17)
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-
Biorbyt antibodies for DNAH17
Protein Products
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Assay Products
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-
Quality Products:
No data available for DME Specific Peptides for DNAH17 Gene
Domains & Families for DNAH17 Gene
Gene Families for DNAH17 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for DNAH17 Gene
Suggested Antigen Peptide Sequences for DNAH17 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9UFH2UniProtKB/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.
- 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.
Function for DNAH17 Gene
Molecular function for DNAH17 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).
- 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
Phenotypes From GWAS Catalog 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:0008569 | ATP-dependent microtubule motor activity, minus-end-directed | IBA | -- |
| GO:0016887 | ATPase activity | IEA | -- |
Phenotypes for DNAH17 Gene
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-
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Santa Cruz Biotechnology (SCBT) CRISPR for DNAH17
miRNA for DNAH17 Gene
- miRTarBase miRNAs that target DNAH17
-
- hsa-mir-4279 (MIRT494104)
- hsa-mir-4467 (MIRT494105)
- hsa-mir-8072 (MIRT494106)
- hsa-mir-4767 (MIRT494107)
- hsa-mir-3960 (MIRT494108)
- hsa-mir-1199-3p (MIRT494109)
- hsa-mir-1908-3p (MIRT494110)
- hsa-mir-1910-5p (MIRT494111)
- hsa-mir-503-5p (MIRT494112)
- hsa-mir-2278 (MIRT494113)
- hsa-mir-6513-5p (MIRT514331)
- hsa-mir-887-5p (MIRT514332)
- hsa-mir-3913-5p (MIRT514333)
- hsa-mir-3122 (MIRT514334)
- hsa-mir-6780a-5p (MIRT514335)
- hsa-mir-450a-1-3p (MIRT514336)
- hsa-mir-6779-5p (MIRT514337)
- hsa-mir-3689c (MIRT514338)
- hsa-mir-3689b-3p (MIRT514339)
- hsa-mir-3689a-3p (MIRT514340)
- hsa-mir-30b-3p (MIRT514341)
- hsa-mir-1273h-5p (MIRT514342)
- hsa-mir-6788-5p (MIRT514343)
- hsa-mir-30c-2-3p (MIRT514344)
- hsa-mir-6799-5p (MIRT514345)
- hsa-mir-30c-1-3p (MIRT514346)
- hsa-mir-6883-5p (MIRT514347)
- hsa-mir-6785-5p (MIRT514348)
- hsa-mir-4728-5p (MIRT514349)
- hsa-mir-149-3p (MIRT514350)
- hsa-mir-7106-5p (MIRT514351)
- hsa-mir-8073 (MIRT514352)
- hsa-mir-6089 (MIRT514353)
- hsa-mir-221-5p (MIRT514354)
- hsa-mir-500a-5p (MIRT514355)
- hsa-mir-8081 (MIRT613392)
- hsa-mir-6790-5p (MIRT613393)
- hsa-mir-4658 (MIRT613394)
- hsa-mir-4758-5p (MIRT613395)
- hsa-mir-1238-5p (MIRT613396)
- hsa-mir-4745-5p (MIRT613397)
- hsa-mir-4481 (MIRT613398)
- hsa-mir-17-3p (MIRT613399)
- hsa-mir-4673 (MIRT613400)
- hsa-mir-4645-5p (MIRT613401)
- hsa-mir-4692 (MIRT613402)
- hsa-mir-4514 (MIRT613403)
- hsa-mir-4733-3p (MIRT613404)
- hsa-mir-6511a-5p (MIRT613405)
- hsa-mir-1910-3p (MIRT613406)
- hsa-mir-1911-3p (MIRT613407)
miRNA Products
Inhibitory RNA Products
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Clone Products
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- Applied Biological Materials Clones for DNAH17
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for DNAH17
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.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| plasma membrane | 3 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| cytosol | 1 |
- Nucleoplasm (2)
- Plasma membrane (2)
| 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 | -- |
Pathways & Interactions for DNAH17 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | ||
Pathways by source for DNAH17 Gene
1 KEGG pathway for DNAH17 Gene
Interacting Proteins for DNAH17 Gene
GPS-Prot Interaction Network for DNAH17
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003341 | cilium movement | IBA | -- |
| GO:0007018 | microtubule-based movement | IEA,IBA | -- |
| GO:0060285 | cilium-dependent cell motility | NAS | 9373155 |
No data available for SIGNOR curated interactions for DNAH17 Gene
Transcripts for DNAH17 Gene
mRNA/cDNA for DNAH17 Gene
- (6) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (11) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000591369 5220 bps (uc060kuw.1)
- ENST00000585328 13708 bps (uc060kux.1)
- ENST00000590227 3269 bps (uc060kuy.1)
- ENST00000586052 6551 bps (uc060kuz.1)
- ENST00000591647 312 bps (uc060kva.1)
Unigene Clusters for DNAH17 Gene
CRISPR Products
-
OriGene CRISPR knockouts for DNAH17
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- Applied Biological Materials CRISPR for DNAH17
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for DNAH17
miRNA Products
Inhibitory RNA Products
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Clone Products
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- Applied Biological Materials Clones for DNAH17
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression 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).
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 and MOPED for DNAH17 Gene
NURSA nuclear receptor signaling pathways regulating expression of DNAH17 Gene:
DNAH17SOURCE GeneReport for Unigene cluster for DNAH17 Gene:
Hs.375975mRNA Expression by UniProt/SwissProt for DNAH17 Gene:
Q9UFH2-DYH17_HUMAN
Tissue specificity:
Expressed in testis.
Evidence on tissue expression from TISSUES for DNAH17 Gene
- Nervous system(2.7)
Primer Products
-
OriGene qPCR primer pairs for DNAH17
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for DNAH17 Gene
Orthologs for DNAH17 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| cow (Bos Taurus) |
Mammalia | DNAH17 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | DNAH17 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Dnah17 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Dnah17 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | DNAH17 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | DNAH17 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | DNAH17 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | DNAH17 34 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | dnah9l 34 |
|
ManyToMany | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | DYN1 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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)
- Aminode:
- Evolutionary constrained regions (ECRs) for DNAH17: view image
Paralogs for DNAH17 Gene
(15) SIMAP similar genes for DNAH17 Gene using alignment to 3 proteins:
- DYH17_HUMAN
- K7EK91_HUMAN
- K7ELN3_HUMAN
Variants for DNAH17 Gene
| SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs35973257 | likely-benign, not specified | 78,426,518(-) | C/T | coding_sequence_variant, missense_variant | |
| rs376047406 | likely-benign, not specified | 78,501,847(-) | C/A/T | coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant | |
| rs11077375 | benign, not specified | 78,495,112(-) | G/A/T | genic_upstream_transcript_variant, intron_variant | |
| rs11077379 | benign, not specified | 78,532,749(-) | G/A | genic_upstream_transcript_variant, intron_variant | |
| rs1134541 | benign, not specified | 78,425,362(-) | G/A | coding_sequence_variant, synonymous_variant |
Gene Damage Index Score:
20.22;
99.05% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for DNAH17 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAH17 Gene
Disorders for DNAH17 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| amyotrophic neuralgia |
|
|
| brachial plexus neuropathy |
|
|
| blepharospasm |
|
|
Search DNAH17 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for DNAH17
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for DNAH17 Gene
Publications for DNAH17 Gene
- A potential human axonemal dynein heavy-chain gene maps to 17q25. (PMID: 9545504) Milisav I … Affara NA (Mammalian genome : official journal of the International Mammalian Genome Society 1998) 2 3 4 58
- Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 44 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- 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 58
- A quantitative chaperone interaction network reveals the architecture of cellular protein homeostasis pathways. (PMID: 25036637) Taipale M … Lindquist S (Cell 2014) 3 58
Products for DNAH17 Gene
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- Biorbyt antibodies for DNAH17
Sources for DNAH17 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
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