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This gene encodes a member of the DEAH-containing family of RNA helicases. The encoded protein is an enzyme that catalyzes the ATP-dependent unwinding of double-stranded RNA and DNA-RNA complexes. This protein localizes to both the nucleus and the cytoplasm and functions as a transcriptional regulator. This protein may also be involved in the expression and nuclear export of retroviral RNAs. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 11 and 13.[provided by RefSeq, Feb 2010]
DHX9 (DExH-Box Helicase 9) is a Protein Coding gene. Diseases associated with DHX9 include Werner Syndrome and Abnormal Retinal Correspondence. Among its related pathways are mRNA Splicing - Major Pathway and RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and helicase activity. An important paralog of this gene is DHX57.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 11038348 |
GO:0000993 | RNA polymerase II complex binding | IDA | 11416126 |
GO:0001069 | regulatory region RNA binding | IDA | 28355180 |
GO:0001085 | RNA polymerase II transcription factor binding | IPI | 17303075 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005622 | intracellular | IBA | 21873635 |
GO:0005634 | nucleus | TAS,IDA | 9162007 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005726 | perichromatin fibrils | IDA | 10198287 |
GO:0005730 | nucleolus | IBA,IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Activated TLR4 signalling | ||
2 | Cytosolic sensors of pathogen-associated DNA | ||
3 | mRNA Splicing - Major Pathway |
.79
|
.41
|
4 | Innate Immune System |
.61
|
|
5 | Gene Expression |
.48
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000380 | alternative mRNA splicing, via spliceosome | IMP | 28221134 |
GO:0000398 | mRNA splicing, via spliceosome | TAS | -- |
GO:0001649 | osteoblast differentiation | HDA | 16210410 |
GO:0002376 | immune system process | IEA | -- |
GO:0006260 | DNA replication | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
58-64-0 |
|
Compound | Action | Cas Number |
---|---|---|
YK-4-279 | RNA Helicase A (RHA) inhibitor | 1037184-44-3 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DHX9 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | DHX9 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DHX9 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | DHX9 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Dhx9 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Dhx9 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | DHX9 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | DHX9 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dhx9 30 |
|
||
Str.7575 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.24763 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | dhx9 30 31 |
|
OneToOne | |
Dr.28193 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | mle 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006599 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | rha-1 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.178 30 |
|
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs116290610 | Benign: not provided | 182,881,264(+) |
C/T NM_001357.5(DHX9):c.2625C>T (p.Tyr875=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
rs201506072 | Benign: not provided | 182,881,348(+) |
C/T NM_001357.5(DHX9):c.2709C>T (p.Ile903=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
rs73063090 | Benign: not provided | 182,852,350(+) |
G/T NM_001357.5(DHX9):c.364+6G>T |
INTRON | |
rs73063095 | Benign: not provided | 182,858,162(+) |
G/A NM_001357.5(DHX9):c.732G>A (p.Leu244=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
rs1049264 | - |
p.Ile894Val |
Disorder | Aliases | PubMed IDs |
---|---|---|
werner syndrome |
|
|
abnormal retinal correspondence |
|
|
parkinson disease 22, autosomal dominant |
|
|
binocular vision disease |
|
|
xanthogranulomatous cholecystitis |
|
|