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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]
DNAH17 (Dynein Axonemal Heavy Chain 17) is a Protein Coding gene. Diseases associated with DNAH17 include Spermatogenic Failure 39 and Non-Syndromic Male Infertility Due To Sperm Motility Disorder. Among its related pathways are Parkinson disease. Gene Ontology (GO) annotations related to this gene include ATPase activity and microtubule motor activity. An important paralog of this gene is DNAH9.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH17J078577 | Enhancer | 0.3 | Ensembl | 600.7 | -1.4 | -1365 | 3.6 | SPI1 SOX5 | DNAH17 C1QTNF1 lnc-PGS1-7 CYTH1 | |
GH17J078576 | Enhancer | 0.2 | Ensembl | 600.7 | +0.9 | 935 | 0.2 | DNAH17 lnc-CYTH1-2 PGS1 | ||
GH17J078575 | Enhancer | 0.2 | Ensembl | 600.7 | +1.6 | 1635 | 0.8 | DNAH17 lnc-CYTH1-2 PGS1 | ||
GH17J078672 | Enhancer | 1.1 | FANTOM5 Ensembl ENCODE dbSUPER | 47.2 | -95.6 | -95626 | 1.6 | POLR2A FOS JUND TARDBP ZNF335 FOSL2 HIC1 NFATC1 ZBED1 | DNAH17 CYTH1 LOC112268196 ENSG00000279570 | |
GH17J078532 | Enhancer | 1.2 | FANTOM5 Ensembl ENCODE | 31.4 | +42.8 | 42835 | 4.8 | CREB1 KDM1A JUND ZIC2 CEBPB KLF9 SP1 FOS FOXA2 JUN | RF00017-2575 RN7SL454P lnc-PGS1-11 lnc-CYTH1-3 DNAH17 SOCS3 USP36 RNU6-638P CYTH1 PGS1 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
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 | 21873635 |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Parkinson disease |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003341 | cilium movement | IBA | 21873635 |
GO:0007018 | microtubule-based movement | IBA | 21873635 |
GO:0036158 | outer dynein arm assembly | IDA | 31178125 |
GO:0060285 | cilium-dependent cell motility | NAS | 9373155 |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Cow (Bos Taurus) |
Mammalia | DNAH17 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DNAH17 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Dnah17 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Dnah17 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | DNAH17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | DNAH17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | DNAH17 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | DNAH17 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | dnah9l 31 |
|
ManyToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | DYN1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
692266 | Pathogenic: SPERMATOGENIC FAILURE 39 | 78,500,459(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
692267 | Pathogenic: SPERMATOGENIC FAILURE 39 | 78,567,156(-) | TTA/T | NONSENSE | |
692268 | Pathogenic: SPERMATOGENIC FAILURE 39 | 78,476,713(-) | TGCTGTGGAAAATAAG | FRAMESHIFT_VARIANT | |
710118 | Benign: not provided | 78,455,761(-) | C/T | SYNONYMOUS_VARIANT | |
710119 | Benign: not provided | 78,462,862(-) | C/T | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
spermatogenic failure 39 |
|
|
non-syndromic male infertility due to sperm motility disorder |
|
|
ciliary dyskinesia, primary, 2 |
|
|
primary ciliary dyskinesia |
|
|
kartagener syndrome |
|
|