Free for academic non-profit institutions. Other users need a Commercial license
DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein that is upregulated in response to treatment with beta-interferon and a protein kinase C-activating compound, mezerein. Irreversible reprogramming of melanomas can be achieved by treatment with both these agents; treatment with either agent alone only achieves reversible differentiation. Genetic variation in this gene is associated with diabetes mellitus insulin-dependent type 19. [provided by RefSeq, Jul 2012]
IFIH1 (Interferon Induced With Helicase C Domain 1) is a Protein Coding gene. Diseases associated with IFIH1 include Aicardi-Goutieres Syndrome 7 and Singleton-Merten Syndrome 1. Among its related pathways are Ovarian tumor domain proteases and Innate Immune System. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and hydrolase activity. An important paralog of this gene is DDX58.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH02J162316 | Promoter/Enhancer | 2.1 | EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER | 750.6 | +0.6 | 644 | 5.4 | ZNF24 SP1 ZBTB40 CTCF LCORL POLR2A CREB1 MYC NFYC ETV6 | GCA IFIH1 NONHSAG029692.2 FAP lnc-FAP-3 | |
GH02J162343 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE CraniofacialAtlas | 12.6 | -26.1 | -26137 | 4.2 | SIN3A SP1 ZBTB6 RBPJ POLR2A CTBP1 CREB1 NFYC MNT ZNF148 | GCA IFIH1 FAP piR-46501-057 RF00998-078 | |
GH02J161961 | Enhancer | 0.5 | FANTOM5 Ensembl | 15.2 | +357.2 | 357163 | 2 | HLF | IFIH1 LINC01806 lnc-DPP4-11 RPEP5 lnc-DPP4-3 SLC4A10 | |
GH02J162342 | Promoter | 0.4 | Ensembl | 12.7 | -23.7 | -23737 | 0.2 | HLF | IFIH1 GCA piR-46501-057 RF00998-078 | |
GH02J161988 | Enhancer | 0.2 | FANTOM5 | 9.4 | +331.3 | 331270 | 0.2 | IFIH1 lnc-DPP4-11 lnc-GCG-4 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003677 | DNA binding | IEA | -- |
GO:0003723 | RNA binding | IEA | -- |
GO:0003724 | RNA helicase activity | IEA | -- |
GO:0003725 | double-stranded RNA binding | TAS | 17079289 |
GO:0003727 | single-stranded RNA binding | IDA | 19656871 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways | ||
2 | Measles |
.35
|
.33
|
3 | Deubiquitination |
.74
|
|
4 | Innate Immune System |
.61
|
|
5 | Metabolism of proteins |
Symbol | External ID(s) | Details |
---|---|---|
P/V (XENO) | ||
MAVS | ||
IKBKE | ||
RIOK3 | ||
RNF125 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002376 | immune system process | IEA | -- |
GO:0009597 | detection of virus | TAS | 17079289 |
GO:0009615 | response to virus | TAS | 21616437 |
GO:0016032 | viral process | IEA | -- |
GO:0016579 | protein deubiquitination | TAS | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor | 58-64-0 |
|
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14a | · | 14b | ^ | 15a | · | 15b | ^ | 16 | ^ | 17a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: |
ExUns: | 17b |
---|---|
SP1: | |
SP2: | |
SP3: | |
SP4: | |
SP5: | |
SP6: | |
SP7: | |
SP8: | |
SP9: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | IFIH1 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | IFIH1 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | IFIH1 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Ifih1 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Ifih1 32 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | IFIH1 33 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | IFIH1 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | IFIH1 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | IFIH1 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | ifih1 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | LOC565759 32 |
|
||
ifih1 33 |
|
OneToOne | |||
fruit fly (Drosophila melanogaster) |
Insecta | Dcr-2 33 |
|
ManyToMany | |
worm (Caenorhabditis elegans) |
Secernentea | drh-1 33 |
|
ManyToMany | |
drh-3 33 |
|
ManyToMany |
SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs115500208 | benign, Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1 | 162,318,131(-) | A/G | coding_sequence_variant, synonymous_variant | |
rs1256109895 | uncertain-significance, Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1 | 162,306,718(-) | C/A/T | coding_sequence_variant, missense_variant | |
rs1320095792 | likely-pathogenic, Aicardi-Goutieres syndrome 7 | 162,281,335(-) | A/T | coding_sequence_variant, missense_variant | |
rs13418718 | benign, Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1 | 162,272,373(-) | G/A/C | coding_sequence_variant, synonymous_variant | |
rs139714761 | uncertain-significance, not provided, Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1 | 162,281,540(-) | A/G | coding_sequence_variant, missense_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv749e214 | CNV | gain | 21293372 |
esv3593177 | CNV | loss | 21293372 |
nsv583520 | CNV | loss | 21841781 |
nsv834440 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
aicardi-goutieres syndrome 7 |
|
|
singleton-merten syndrome 1 |
|
|
basal ganglia disease |
|
|
singleton-merten syndrome |
|
|
aicardi-goutieres syndrome |
|
|