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This gene encodes a member of the DExH/D box family of ATP-dependent RNA helicases that have an essential role in RNA metabolism. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 17.[provided by RefSeq, Oct 2009]
DHX40 (DEAH-Box Helicase 40) is a Protein Coding gene. Diseases associated with DHX40 include Lecithin:Cholesterol Acyltransferase Deficiency and Congenital Fiber-Type Disproportion. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and helicase activity. An important paralog of this gene is DHX8.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003723 | RNA binding | IBA | 21873635 |
GO:0003724 | RNA helicase activity | IEA | -- |
GO:0004386 | helicase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005622 | intracellular | IBA | 21873635 |
GO:0005681 | spliceosomal complex | IBA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000398 | mRNA splicing, via spliceosome | IBA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b | ^ | 13a | · | 13b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||||||||||
SP6: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DHX40 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DHX40 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | DHX40 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Dhx40 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Dhx40 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | DHX40 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | DHX40 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | DHX40 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | DHX40 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dhx40 30 |
|
||
Str.14904 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.21302 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | dhx40 30 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PRP16 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
786951 | Benign: not provided | 59,573,835(+) | A/G | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv3272n100 | CNV | gain | 25217958 |
nsv1067453 | CNV | gain | 25217958 |
nsv575805 | CNV | gain | 21841781 |
nsv960126 | CNV | duplication | 23825009 |
nsv960127 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
lecithin:cholesterol acyltransferase deficiency |
|
|
congenital fiber-type disproportion |
|
|