DNAH17 Gene
protein-coding GIFtS: 48
GCID: GC17M076416
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dynein, axonemal, heavy chain 17(Previous names: dynein, axonemal, heavy polypeptide 17, dynein, axonemal,...)
(Previous symbol: DNAHL1)
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Aliases
for DNAH17 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Dynein, Axonemal, Heavy Chain 171 2 | | Axonemal Dynein Heavy Chain-Like Protein 12 3 | | DNAHL11 2 3 | | Ciliary Dynein Heavy Chain 172 3 | | DNEL21 2 3 | | Ciliary Dynein Heavy Chain-Like Protein 12 3 | | Dynein, Axonemal, Heavy Chain Like 11 2 | | Dynein Light Chain 2, Axonemal2 3 | | Dynein, Axonemal, Heavy Like 11 2 | | FLJ404571 | | Dynein, Axonemal, Heavy Polypeptide 171 2 | | Axonemal Dynein Heavy Chain2 | | Axonemal Beta Dynein Heavy Chain 172 3 | | Dynein Heavy Chain 17, Axonemal2 |
Export aliases for DNAH17 gene to outside databasesPrevious GC identifers: GC17P076291 GC17M079807 GC17M076880 GC17M077016 GC17M077017 GC17M073931 GC17U900585 GC17M071842 |
Summaries
for DNAH17 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for DNAH17:
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)
UniProtKB/Swiss-Prot: DYH17_HUMAN, Q9UFH2Function: Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dyneinhas ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in spermmotility; implicated in sperm flagellar assembly (By similarity)
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Genomic Views
for DNAH17 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000017.10 NC_018928.1 NT_010783.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the DNAH17 gene promoter:
AhR AML1a HTF Tal-1beta FOXO3b Arnt E47 AREB6 Ik-2 FOXO3a
Other transcription factors
Search SABiosciences Chromatin IP Primers for DNAH17
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DNAH17 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 17q25.3 Ensembl cytogenetic band: 17q25.3 HGNC cytogenetic band: 17q25.3DNAH17 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 17 GeneLoc Exon Structure GeneLoc location for GC17M076416: view genomic region
(about GC identifiers)
Start:
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76,419,778 bp from pter |
End:
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76,573,476 bp from pter |
Size:
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153,699 bases |
Orientation:
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minus strand |
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Proteins
for DNAH17 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: DYH17_HUMAN, Q9UFH2 (See
protein sequence)Recommended Name: Dynein heavy chain 17, axonemal Size: 4485 amino acids; 511787 Da
Subunit: Consists of at least two heavy chains and a number of intermediate and light chains
Subcellular location: Cytoplasm, cytoskeleton, cilium axoneme (Potential)
Sequence caution: Sequence=CAA04165.1; Type=Frameshift; Positions=3502, 3533; Sequence=CAB59252.1; Type=Erroneousinitiation;
Secondary accessions: O00431 O15206 Q2M2Y1 Q6ZRQ2 Q8N7Q7Alternative splicing: 4 isoforms: Q9UFH2-1 Q9UFH2-2 Q9UFH2-3 Q9UFH2-4 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for DNAH17: NX_Q9UFH2
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9UFH2
DNAH17 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_775899.3
ENSEMBL proteins: ENSP00000466150 ENSP00000465516 ENSP00000374490
Human Recombinant Protein Products for DNAH17:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
DNAH17 for ontologies About GeneDecksing
DNAH17 Antibody Products:
Assay Products for DNAH17: |
Protein
Domains /
Families
for DNAH17 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DNAH17 for domains About GeneDecksing
5/8 InterPro domains/families (see all 8):Graphical View of Domain Structure for InterPro Entry Q9UFH2ProtoNet protein and cluster: Q9UFH2 UniProtKB/Swiss-Prot: DYH17_HUMAN, Q9UFH2Domain: Dynein heavy chains probably consist of an N-terminal stem (which binds cargo and interacts with other dyneincomponents), and the head or motor domain. The motor contains six tandemly-linked AAA domains in the head, which forma ring. A stalk-like structure (formed by two of the coiled coil domains) protrudes between AAA 4 and AAA 5 andterminates in a microtubule-binding site. A seventh domain may also contribute to this ring; it is not clear whetherthe N-terminus or the C-terminus forms this extra domain. There are four well-conserved and two non-conserved ATPasesites, one per AAA domain. Probably only one of these (within AAA 1) actually hydrolyzes ATP, the others may serve aregulatory function (By similarity)Similarity: Belongs to the dynein heavy chain familySimilarity: Contains 3 TPR repeats |
Function
for DNAH17 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: DYH17_HUMAN, Q9UFH2Function: Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dyneinhas ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in spermmotility; implicated in sperm flagellar assembly (By similarity) Genatlas biochemistry entry for DNAH17:dynein,axonemal,motor protein interacting with microtubules,heavy chain 17 (91kDa),outer arm,specifically expressed intestis,involved in intracellular movement of organelles and vesicles or in the orientation of the mitotic spindleapparatus,with ATPase activity
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
DNAH17 for ontologies About GeneDecksing
Phenotypes:
2 GenomeRNAi human phenotypes for DNAH17:
Animal Models:
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DNAH17 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DNAH17 (see all 2)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: DNAH17 (NM_173628) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DNAH17 | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat DNAH17 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNAH17 |
|
Pathways & Interactions
for DNAH17 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Cytoskeleton remodeling Neurofilaments | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 EMD Millipore Pathway for DNAH17
DNAH17 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DNAH17
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/35 Interacting proteins for DNAH17 (ENSP000003744904) via UniProtKB, MINT, STRING, and/or I2D (see all 35)About this table
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table
DNAH17 for ontologies About GeneDecksing
|
Drugs & Compounds
for DNAH17 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for DNAH17
Search CenterWatch for drugs/clinical trials and news about DNAH17 / DYH17
|
Transcripts
for DNAH17 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for DNAH17 gene (2 alternative transcripts): NM_173628.3 NM_003727.1 Unigene Cluster for DNAH17: Dynein, axonemal, heavy chain 17 Hs.375975 [show with all ESTs]Unigene Representative Sequence: NM_17362811 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000591369 ENST00000585328 ENST00000590227 ENST00000586052 ENST00000591647
ENST00000586850 ENST00000592192 ENST00000592152 ENST00000587177 ENST00000589793
ENST00000389840(uc002jvq.3 uc002jvs.3 uc010dhp.2 uc002jvv.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DNAH17 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DNAH17 (see all 2)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: DNAH17 (NM_173628) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DNAH17 | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat DNAH17 |
Additional cDNA sequence: AB290170.1 AJ000522.1 AK021442.1 AK090407.1 AK126059.1 AK128065.1 AL122077.1 AL832652.1 15 DOTS entries: DT.120921165 DT.92417819 DT.120921153 DT.99977887 DT.101975930 DT.120921143 DT.92001193 DT.99998672 DT.120921145 DT.120921156 DT.97802444 DT.100803860 DT.65285841 DT.97834802 DT.101981273
GeneLoc Exon Structure
|
Expression
for DNAH17 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| DNAH17 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCTGTCATCT
About this image
See DNAH17 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DNAH17
SOURCE GeneReport for Unigene cluster: Hs.375975
UniProtKB/Swiss-Prot: DYH17_HUMAN, Q9UFH2Tissue specificity: Expressed in testis
SABiosciences Custom PCR Arrays for DNAH17
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DNAH17
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DNAH17 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DNAH17 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DNAH17 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNAH17 |
Orthologs
for DNAH17 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for DNAH17 gene from 4/19 species (see all 19) About this table
ENSEMBL Gene Tree for DNAH17 (if available)
TreeFam Gene Tree for DNAH17 (if available) |
Paralogs
for DNAH17 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for DNAH17 gene
- DNAH52 DNAH22 DNAH82 DYNC1H12 DYNC2H12 DNAH92 DNAH32 DNAH112
- DNAH72 DNAH62 DNAH12 DNAH102
15 SIMAP similar genes for DNAH17 using alignment to 3 protein entries: DYH17_HUMAN (see all proteins):Dnahc9 Dnahc11 DNAH9 Dnahc3 Dnchc1 DNAH11
DNAH14 DNAH5 DNAH10 DNAH3 DNAH6 DNAH7
DNAH2 DNAH1 DNAH8
DNAH17 for paralogs About GeneDecksing
|
Genomic Variants
for DNAH17 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 17 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for DNAH17 (76419778 - 76573476 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 15 variations for DNAH17
10 CNVs: 88630 88629 77733 88626 5033 77735 77736 88627 102549 77732
5 Indels: 88628 102548 45602 77734 45601 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DNAH17 |
|
Disorders
/ Diseases
for DNAH17 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
DNAH17 for disorders About GeneDecksing
OMIM gene information: 610063
OMIM disorders: --
4  diseases for DNAH17: About MalaCardsnonepidermolytic palmoplantar keratoderma amyotrophic neuralgia keratoderma malaria
2 diseases from the University of Copenhagen DISEASES database for DNAH17:Nonepidermolytic palmoplantar keratoderma Brachial plexus neuropathy Human Genome Epidemiology (HuGE) Navigator: DNAH17 (1 document)
Export disorders for DNAH17 gene to outside databases
|
Publications
for DNAH17 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for DNAH17 gene, integrated from 9 sources (see all 11):
(articles sorted by number of sources associating them with DNAH17) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- A potential human axonemal dynein heavy-chain gene maps to 17q25. (PubMed id 9545504)1, 2, 3 Milisav I. and Affara N.A. (1998)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene. (PubMed id 9373155)1, 2 Neesen J.... Schmid M. (1997)
- Coeliac disease associated risk variants in TNFAIP3 and REL implicate altered NF-{kappa}B signalling. (PubMed id 19240061)1 Trynka G....Wijmenga C. (2009)
- A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
- The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
- DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (2006)
- Human plasma proteome analysis by multidimensional chromatography prefractionation and linear ion trap mass spectrometry identification. (PubMed id 15822942)1 Jin W.H....Zeng R. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
|
External Searches for DNAH17 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing DNAH17 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing DNAH17 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing DNAH17 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for DNAH17 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for DNAH17 gene:
Search GeneIP for patents involving DNAH17
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for DNAH17 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNAH17 |
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