IFIH1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | IFIH1 |
| Official Name | interferon induced with helicase C domain 1 [Source:HGNC Symbol;Acc:HGNC:18873] |
| Ensembl ID | ENSG00000115267 |
| Bio databases IDs | |
| Aliases | interferon induced with helicase C domain 1, helicard, melanoma differentiation-associated gene 5 |
| Synonyms | 9130009C22Rik, AGS7, Helicard, Hlcd, IDDM19, IMD95, interferon induced with helicase C domain 1, MDA-5, Melanoma Differentiation Associated Protein 5, RGD1560496, RLR-2, SGMRT1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human IFIH1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ATP-binding domain
- enzyme
- identical protein binding
- ATPase
- Helicase conserved C-terminal domain
- RNA helicase
- helicase domain
- Caspase recruitment domain
- CARD-like domain
- zinc ion binding
- ribonucleoprotein binding
- double-stranded RNA binding
- Type III restriction enzyme, res subunit
- N-terminal helicase domain of the DEAD-box helicase superfamily
- RIG-I receptor C-terminal domain
- DEAD-like helicases superfamily
- C-terminal domain of RIG-I
- P-loop containing Nucleoside Triphosphate Hydrolases
- signaling receptor activity
- helicase superfamily c-terminal domain
- DEAD/DEAH box helicase
- protein domain specific binding
- protein binding
- DExD/H-box helicase domain
- single-stranded RNA binding
- RNA binding
- RLR_C_like
- helicase_insert_domain
- Death Domain Superfamily of protein-protein interaction domains
Pathways
Biological processes and signaling networks where the IFIH1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- infection
- airway hyperresponsiveness
- Aicardi-Goutieres syndrome
- immunodeficiency 95
- insulin-dependent diabetes mellitus
- heart failure
- Singleton-Merten syndrome type 1
- Aicardi-Goutieres syndrome 7
- inflammatory bowel disease
role in cell
- apoptosis
- activation in
- cell death
- quantity
- proliferation
- expression in
- activation
- signaling in
- production in
- phosphorylation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- intracellular compartment
- Cytoplasm
- cell surface
- intracellular space
- Plasma Membrane
- Mitochondria
- cytosol
- acrosome
- secretory vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human IFIH1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of response to cytokine stimulus
- protein sumoylation
- MDA-5 signaling pathway
- detection of virus
- response to virus
- type I interferon-mediated signaling pathway
- cytoplasmic pattern recognition receptor signaling pathway
- positive regulation of interferon-alpha production
- cellular response to exogenous dsRNA
- positive regulation of interferon-beta production
- innate immune response
- defense response to virus
- positive regulation of tumor necrosis factor production
- regulation of type III interferon production
- positive regulation of interleukin-6 production
- negative regulation of viral genome replication
- protein oligomerization
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- mitochondrion
- cytosol
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- DNA binding
- zinc ion binding
- identical protein binding
- protein binding
- RNA binding
- RNA helicase activity
- double-stranded RNA binding
- ribonucleoprotein complex binding
- single-stranded RNA binding