IFIH1 - interferon induced with helicase C domain 1 Gene
Also Known as AGS7; Hlcd; MDA5; IMD95; MDA-5; RLR-2; IDDM19; SGMRT1
Species: Homo sapiens
About IFIH1
This gene has 8 transcripts (splice variants), 231 orthologues, 2 paralogues and is associated with 8 phenotypes. Ubiquitous expression in spleen (RPKM 10.9), appendix (RPKM 9.9) and 25 other tissues.
Summary
IFIH1 encodes MDA5 which is an intracellular sensor of viral RNA that triggers the innate immune response. Sensing RNA length and secondary structure, MDA5 binds dsRNA oligonucleotides with a modified DExD/H-box helicase core and a C-terminal domain, thus leading to a proinflammatory response that includes interferons. It has been shown that Coronaviruses (CoVs) as well as various Other virus families, are capable of evading the MDA5-dependent interferon response, thus impeding the activation of the innate immune response to Infection. MDA5 has also been shown to play an important role in enhancing natural killer cell function in malaria Infection. In addition to its protective role in Antiviral responses, MDA5 has been implicated in autoimmune and autoinflammatory diseases such as type 1 diabetes, systemic lupus erythematosus, and Aicardi-Goutieres syndrome[provided by RefSeq, Jul 2020]
IFIH1 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_022168.4 | NP_071451.2 | interferon-induced helicase C domain-containing protein 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables ATP hydrolysis activity |
IMP
IMP: Inferred from mutant phenotype
|
19211564 | GOA |
| enables RNA binding |
IDA
IDA: Inferred from direct assay
|
33727702 | GOA |
| enables RNA helicase activity |
IMP
IMP: Inferred from mutant phenotype
|
19211564 | GOA |
| enables double-stranded RNA binding |
IDA
IDA: Inferred from direct assay
|
19656871 | GOA |
| enables identical protein binding |
IDA
IDA: Inferred from direct assay
|
23090998 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
22160685 | GOA |
| enables pattern recognition receptor activity |
IDA
IDA: Inferred from direct assay
|
21217758 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
16127453 | GOA |
| enables ribonucleoprotein complex binding |
IPI
IPI: Inferred from physical interaction
|
19881509 | GOA |
| enables single-stranded RNA binding |
IDA
IDA: Inferred from direct assay
|
19656871 | GOA |
| enables zinc ion binding |
IDA
IDA: Inferred from direct assay
|
19380577 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| is active in cytoplasm |
IDA
IDA: Inferred from direct assay
|
11805321 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
33727702 | GOA |
| located in mitochondrion |
IDA
IDA: Inferred from direct assay
|
33727702 | GOA |
IFIH1 Protein Structure
CARD: Caspase recruitment domain (116 - 199)
ResIII: Type III restriction enzyme, res subunit (306 - 491)
Helicase_C: Helicase conserved C-terminal domain (765 - 824)
RIG-I_C-RD: C-terminal domain of RIG-I (903 - 1019)
- 0
- 200
- 400
- 600
- 800
- 1025 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
interferon-induced helicase C domain-containing protein 1 |
|
IFIH1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
IFIH1 | Q9BYX4 | MAVS | Homo sapiens | Q7Z434-1 | 17600090 | |
|
Intra
|
IFIH1 | Q9BYX4 | MAVS | Homo sapiens | Q7Z434-1 | 19416887 | |
|
Cross
|
IFIH1 | Q9BYX4 | P0DTD1-PRO_0000449621 | SARS-CoV-2 | P0DTD1-PRO_0000449621 | 33727702 | |
|
Cross
|
IFIH1 | Q9BYX4 | P0DTD1-PRO_0000449621 | SARS-CoV-2 | P0DTD1-PRO_0000449621 | 33727702 | |
|
Intra
|
IFIH1 | Q9BYX4 | IKBKE | Homo sapiens | Q14164 | 17600090 | |
|
Cross
|
IFIH1 | Q9BYX4 | P/V | measles virus | P0C774 | 33727702 | |
|
Cross
|
IFIH1 | Q9BYX4 | P/V | measles virus | P0C774 | 23328395 | |
|
Intra
|
IFIH1 | Q9BYX4 | TKFC | Homo sapiens | Q3LXA3 | 17600090 | |
|
Intra
|
IFIH1 | Q9BYX4 | TKFC | Homo sapiens | Q3LXA3 | 17600090 | |
|
Intra
|
IFIH1 | Q9BYX4 | TKFC | Homo sapiens | Q3LXA3 | 17600090 | |
|
Intra
|
IFIH1 | Q9BYX4 | ISG15 | Homo sapiens | P05161 | 33727702 | |
|
Intra
|
IFIH1 | Q9BYX4 | MAVS | Homo sapiens | Q7Z434 | 22623778 | |
|
Intra
|
IFIH1 | Q9BYX4 | IFIH1 | Homo sapiens | Q9BYX4 | 22160685 | |
|
Intra
|
IFIH1 | Q9BYX4 | ISG15 | Homo sapiens | P05161 | 33727702 | |
|
Intra
|
IFIH1 | Q9BYX4 | IFIH1 | Homo sapiens | Q9BYX4 | 25865883 | |
|
Intra
|
IFIH1 | Q9BYX4 | IFIH1 | Homo sapiens | Q9BYX4 | 22160685 | |
|
Intra
|
IFIH1 | Q9BYX4 | MAVS | Homo sapiens | Q7Z434 | 22301138 | |
|
Intra
|
IFIH1 | Q9BYX4 | MAVS | Homo sapiens | Q7Z434 | 21903422 | |
|
Intra
|
IFIH1 | Q9BYX4 | IFIH1 | Homo sapiens | Q9BYX4 | 22160685 | |
|
Intra
|
IFIH1 | Q9BYX4 | ISG15 | Homo sapiens | P05161 | 33727702 | |
|
Intra
|
IFIH1 | Q9BYX4 | IFIH1 | Homo sapiens | Q9BYX4 | 22160685 | |
|
Intra
|
IFIH1 | Q9BYX4 | KEAP1 | Homo sapiens | Q14145 | 32296183 | |
|
Intra
|
IFIH1 | Q9BYX4 | KEAP1 | Homo sapiens | Q14145 | 32296183 | |
|
Cross
|
IFIH1 | Q9BYX4 | P/V | Simian virus 5 | P11207 | 19403670 | |
|
Cross
|
IFIH1 | Q9BYX4 | US11 | Human herpesvirus 1 | P04487 | 22301138 | |
|
Cross
|
IFIH1 | Q9BYX4 | US11 | Human herpesvirus 1 | P04487 | 22301138 | |
|
Cross
|
IFIH1 | Q9BYX4 | P/V | Measles virus | Q9EMA9 | 19403670 | |
|
Cross
|
IFIH1 | Q9BYX4 | P/V | Mumps virus | P30927 | 19403670 |
Recombinant IFIH1 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P71641 | IFIH1 Protein, Human (His) | Q9BYX4 (K700-D1025) | ≥ 95%, as determined by reducing SDS-PAGE. |
IFIH1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P82654 | MDA5 Antibody (YA2399) | WB, ICC/IF | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Singleton-Merten Syndrome 1 |
|
|
| Aicardi-Goutieres Syndrome 7 |
|
|
| Immunodeficiency 95 |
|
|
| Singleton-Merten Syndrome |
|
|
| Aicardi-Goutieres Syndrome |
|
|
| Type 1 Diabetes Mellitus 19 |
|
|
| Basal Ganglia Disease |
|
|
| Multisystem Inflammatory Syndrome In Children |
|
|
| Interstitial Lung Disease |
|
|
| Myositis |
|
|
| Lung Disease |
|
|
| Hand, Foot And Mouth Disease |
|
|
| Dermatomyositis |
|
|
| Measles |
|
|
| Viral Infectious Disease |
|
|
| Hepatitis |
|
|
| Antisynthetase Syndrome |
|
|
| Malaria |
|
|
| Dengue Virus |
|
|
| Lupus Erythematosus |
|
|
| West Nile Virus |
|
|
| Herpes Simplex |
|
|
| Subacute Sclerosing Panencephalitis |
|
|
| Hepatitis C |
|
|
| Lymphoid Interstitial Pneumonia |
|
|
| Adult Dermatomyositis |
|
|
| Acute Interstitial Pneumonia |
|
|
| Childhood Type Dermatomyositis |
|
|
| Mouth Disease |
|
|
| Severe Acute Respiratory Syndrome |
|
|
| Nonspecific Interstitial Pneumonia |
|
|
| Chikungunya |
|
|
| Microphthalmia With Limb Anomalies |
|
|
| Systemic Lupus Erythematosus |
|
|
| Melanoma |
|
|
| Psoriasis |
|
|
| Idiopathic Interstitial Pneumonia |
|
|
| Diabetes Mellitus |
|
|
| Stomatitis |
|
|
| Immunodeficiency 15a |
|
|
| Systemic Scleroderma |
|
|
| Sting-Associated Vasculopathy With Onset In Infancy |
|
|
| Chilblain Lupus 1 |
|
|
| Avian Influenza |
|
|
| Palmoplantar Keratoderma, Punctate Type Iii |
|
|
| Myocarditis |
|
|
| Paralytic Poliomyelitis |
|
|
| Renal Pelvis Squamous Cell Carcinoma |
|
|
| Exanthem |
|
|
| Lassa Fever |
|
|
| Cutaneous Lupus Erythematosus |
|
|
| Dyschromatosis Symmetrica Hereditaria |
|
|
| Torch Syndrome |
|
|
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
|
| Cryptogenic Organizing Pneumonia |
|
|
| Basal Ganglia Calcification |
|
|
| Ebola Hemorrhagic Fever |
|
|
| Poliomyelitis |
|
|
| Muscle Tissue Disease |
|
|
| Swine Influenza |
|
|
| Herpangina |
|
|
| West Nile Encephalitis |
|
|
| Muscular Disease |
|
|
| Coronavirus Infectious Disease |
|
|
| Thrombocytopenia |
|
|
| Integumentary System Disease |
|
|
| Microcephaly |
|
|
| Skin Disease |
|
|
| Myopathy |
|
|
| Celiac Disease 1 |
|
|
| Congenital Nervous System Abnormality |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | IFIH1 | MGD | MGI:1918836 |
| Canis familiaris | IFIH1 | VGNC | VGNC:41876 |
| Felis catus | IFIH1 | VGNC | VGNC:80243 |
| Macaca mulatta | IFIH1 | VGNC | VGNC:73419 |
| Bos taurus | IFIH1 | VGNC | VGNC:30048 |
| Rattus norvegicus | IFIH1 | RGD | RGD:1560496 |
| Others | IFIH1 | NCBI |