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DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases which are implicated in a number of cellular procsses involving RNA binding and alteration of RNA secondary structure. This gene encodes a DEXD/H box RNA helicase that functions as an antiviral factor and promotes RIG-I-like receptor-mediated signaling. [provided by RefSeq, Apr 2017]
DDX60 (DExD/H-Box Helicase 60) is a Protein Coding gene. Diseases associated with DDX60 include Autosomal Recessive Alport Syndrome. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and hydrolase activity. An important paralog of this gene is DDX60L.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003690 | double-stranded DNA binding | IDA | 21791617 |
GO:0003723 | RNA binding | IEA | -- |
GO:0003724 | RNA helicase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,IDA | 21791617 |
GO:0005829 | cytosol | IDA | -- |
GO:0045111 | intermediate filament cytoskeleton | IDA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002376 | immune system process | IEA | -- |
GO:0009615 | response to virus | IDA | 21791617 |
GO:0045087 | innate immune response | IEA | -- |
GO:0051607 | defense response to virus | IEA | -- |
GO:1900245 | positive regulation of MDA-5 signaling pathway | IMP | 21791617 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DDX60 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DDX60 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ddx60 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | DDX60 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | DDX60 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ddx60 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | C28H8.3 30 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MTR4 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
720104 | Benign: not provided | 168,306,636(-) | T/C | MISSENSE_VARIANT | |
780511 | Benign: not provided | 168,237,436(-) | C/G | INTRON_VARIANT | |
784490 | Benign: not provided | 168,221,856(-) | T/C | MISSENSE_VARIANT | |
rs864622021 | Uncertain Significance: Malignant tumor of prostate | 168,280,400(-) | T/C | MISSENSE_VARIANT | |
rs550625 | - | p.Val672Met |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2728712 | CNV | deletion | 23290073 |
esv2728713 | CNV | deletion | 23290073 |
nsv4596 | CNV | insertion | 18451855 |
nsv474625 | CNV | novel sequence insertion | 20440878 |
nsv830146 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
autosomal recessive alport syndrome |
|
|