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This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009]
DNAH5 (Dynein Axonemal Heavy Chain 5) is a Protein Coding gene. Diseases associated with DNAH5 include Ciliary Dyskinesia, Primary, 3 and Primary Ciliary Dyskinesia. Among its related pathways are Pathways of neurodegeneration - multiple diseases. Gene Ontology (GO) annotations related to this gene include ATPase activity and microtubule motor activity. An important paralog of this gene is DNAH8.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003774 | motor activity | IEA | -- |
GO:0003777 | microtubule motor activity | IEA | -- |
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:0005576 | extracellular region | IEA | -- |
GO:0005737 | cytoplasm | IDA | 29916806 |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0005858 | axonemal dynein complex | IEA | -- |
GO:0005874 | microtubule | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Pathways of neurodegeneration - multiple diseases |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003341 | cilium movement | IEA,IMP | 11062149 |
GO:0003351 | epithelial cilium movement | IEA | -- |
GO:0007018 | microtubule-based movement | IEA,IBA | 21873635 |
GO:0007368 | determination of left/right symmetry | IEA,IMP | 11788826 |
GO:0007507 | heart development | IEA | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: |
ExUns: | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32 | ^ | 33 | ^ | 34 | ^ | 35 | ^ | 36 | ^ | 37 | ^ | 38 | ^ | 39 | ^ | 40 | ^ | 41 | ^ | 42 | ^ | 43 | ^ | 44 | ^ | 45 | ^ | 46 | ^ | 47 | ^ | 48 | ^ | 49 | ^ | 50 | ^ | 51 | ^ | 52 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: |
ExUns: | 53 | ^ | 54 | ^ | 55 | ^ | 56 | ^ | 57 | ^ | 58 | ^ | 59 | ^ | 60a | · | 60b | ^ | 61 | ^ | 62 | ^ | 63 | ^ | 64 | ^ | 65 | ^ | 66 | ^ | 67 | ^ | 68 | ^ | 69 | ^ | 70 | ^ | 71 | ^ | 72 | ^ | 73 | ^ | 74 | ^ | 75 | ^ | 76 | ^ | 77 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: |
ExUns: | 78 | ^ | 79 | ^ | 80 | ^ | 81a | · |
---|---|---|---|---|---|---|---|---|
SP1: | ||||||||
SP2: | ||||||||
SP3: | ||||||||
SP4: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DNAH5 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DNAH5 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | DNAH5 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Dnah5 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | DNAH5 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | DNAH5 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | DNAH5 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | DNAH5 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dnah5 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.34002 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | dnah5 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | kl-3 32 |
|
|
|
CG9492 30 31 32 |
|
OneToOne | |||
kl-2 32 |
|
|
|||
Dhc64C 32 |
|
|
|||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003271 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | dhc-1 32 |
|
|
|
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
CSA.4159 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
407251 | Likely Pathogenic: Primary ciliary dyskinesia | 13,917,159(-) |
AAAGGGTCACAACATT
NM_001369.2(DNAH5):c.799-269_1072del |
SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR | |
834495 | Likely Pathogenic: Primary ciliary dyskinesia | 13,762,769(-) |
CTTTCGTCCAGGAACA
NM_001369.2(DNAH5):c.10219_10233del (p.Cys3407_Lys3411del) |
INFRAME_DELETION | |
834775 | Uncertain Significance: Primary ciliary dyskinesia | 13,810,216(-) |
G/C NM_001369.2(DNAH5):c.7452C>G (p.Phe2484Leu) |
MISSENSE | |
835399 | Pathogenic: Primary ciliary dyskinesia | 13,770,839(-) |
T/TG NM_001369.2(DNAH5):c.9514dup (p.His3172fs) |
FRAMESHIFT | |
835593 | Uncertain Significance: Primary ciliary dyskinesia | 13,717,463(-) |
T/C NM_001369.2(DNAH5):c.12557A>G (p.Tyr4186Cys) |
MISSENSE |
Disorder | Aliases | PubMed IDs |
---|---|---|
ciliary dyskinesia, primary, 3 |
|
|
primary ciliary dyskinesia |
|
|
kartagener syndrome |
|
|
male infertility |
|
|
ciliary dyskinesia, primary, 1 |
|
|