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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 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 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 | 750.6 | -1.4 | -1369 | 3.6 | SOX5 | DNAH17 C1QTNF1 lnc-PGS1-7 | |
GH17J078575 | Enhancer | 0.2 | Ensembl | 750.6 | +1.6 | 1631 | 0.8 | DNAH17 lnc-CYTH1-2 | ||
GH17J078576 | Enhancer | 0.2 | Ensembl | 750.6 | +0.9 | 931 | 0.2 | DNAH17 lnc-CYTH1-2 | ||
GH17J078672 | Enhancer | 1 | FANTOM5 Ensembl ENCODE dbSUPER | 47.2 | -95.6 | -95630 | 1.6 | ZBED1 JUND FOS TARDBP ZNF335 HIC1 NFATC1 | DNAH17 CYTH1 ENSG00000279570 HSALNG0119049 | |
GH17J078532 | Enhancer | 1.2 | FANTOM5 Ensembl ENCODE | 31.4 | +42.8 | 42831 | 4.8 | USF2 CREB1 ZIC2 CEBPB JUN JUND MAX SP1 KLF4 EP300 | RF00017-2573 RN7SL454P lnc-CYTH1-3 lnc-PGS1-11 DNAH17 SOCS3 RNU6-638P CYTH1 PGS1 USP36 |
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 | 21873635 |
GO:0045503 | dynein light chain binding | 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 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007018 | microtubule-based movement | IBA | 21873635 |
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 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | DNAH17 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Dnah17 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Dnah17 32 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | DNAH17 33 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | DNAH17 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | DNAH17 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | DNAH17 33 |
|
OneToOne | |
zebrafish (Danio rerio) |
Actinopterygii | dnah9l 33 |
|
ManyToMany | |
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | DYN1 33 |
|
OneToMany | |
sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToOne |
SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs11651537 | benign, not specified, - | 78,532,708(-) | A/C/G | coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant | |
rs375060973 | uncertain-significance, Short stature | 78,571,332(-) | G/A | coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant | |
rs763505389 | likely-pathogenic, Short stature | 78,491,549(-) | C/T | coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant | |
rs768564744 | likely-pathogenic, Short stature | 78,525,107(-) | C/G/T | coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant | |
rs35973257 | likely-benign, not specified | 78,426,518(-) | C/T | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant |
Disorder | Aliases | PubMed IDs |
---|---|---|
amyotrophic neuralgia |
|
|
brachial plexus neuropathy |
|
|
palmoplantar keratoderma, nonepidermolytic |
|
|
blepharospasm |
|
|