1. Gene
  2. IFIH1 - interferon induced with helicase C domain 1 Gene

IFIH1 - interferon induced with helicase C domain 1 Gene

Homo sapiens

Also known as AGS7; Hlcd; MDA5; IMD95; MDA-5; RLR-2; IDDM19; SGMRT1

Gene ID: 64135 | Gene type: protein coding

About IFIH1

Cytogenetic location: 2q24.2 Genomic coordinates (GRCh38): 2:162,267,074-162,318,684 (from NCBI)

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

IFIH1 Protein Structure

CARD

CARD: Caspase recruitment domain (116 - 199)

ResIII

ResIII: Type III restriction enzyme, res subunit (306 - 491)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (765 - 824)

RIG-I_C-RD

RIG-I_C-RD: C-terminal domain of RIG-I (903 - 1019)

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  • 1025 a.a.
Protein Preferred Names Protein Names

interferon-induced helicase C domain-containing protein 1

CADM-140 autoantigen

Recombinant IFIH1 Proteins

Cat. No. Product Name Accession Purity
HY-P71641 IFIH1 Protein, Human (His) Q9BYX4 (K700-D1025) ≥95%

Related Diseases

Diseases Alias
Singleton-Merten Syndrome 1

SGMRT1

Singleton-Merten Syndrome, Type 1

Aicardi-Goutieres Syndrome 7

AGS7

Aicardi-Goutieres Syndrome, Type 7

Immunodeficiency 95

IMD95

Singleton-Merten Syndrome

Singleton-Merten Dysplasia

Widened Medullary Cavities Of Bone, Aortic Calcification, Abnormal Dentition, And Muscular Weakness

Singleton Merten Syndrome

Merten-Singleton Syndrome

Sm Syndrome

Syndrome Of Widened Medullary Cavities Of The Metacarpals And Phalanges, Aortic Calcification And Abnormal Dentition

Aicardi-Goutieres Syndrome

Aicardi Goutieres Syndrome

Cree Encephalitis

Aicardi-Goutières Syndrome

Encephalopathy With Basal Ganglia Calcification

Ags

Encephalopathy With Intracranial Calcification And Chronic Lymphocytosis Of Cerebrospinal Fluid

Pseudotoxoplasmosis Syndrome

Encephalopathy, Familial Infantile, With Calcification Of Basal Ganglia And Chronic Cerebrospinal Fluid Lymphocytosis

Familial Infantile Encephalopathy With Intracranial Calcification And Chronic Cerebrospinal Fluid Lymphocytosis

Aicardi-Goutieres Syndrome 1

Type 1 Diabetes Mellitus 19

Diabetes Mellitus, Insulin-Dependent, 19

IDDM19

T1D19

Insulin-Dependent Diabetes Mellitus 19

Basal Ganglia Disease

Basal Ganglia Diseases

Basal Ganglia Disorders

Abnormality Of The Basal Ganglia

Multisystem Inflammatory Syndrome In Children

Mis-C

Multisystem Inflammatory Disorder In Children And Adolescents

Paediatric Inflammatory Multisystemic Syndrome

Mic

Interstitial Lung Disease

Ild

Lung Diseases, Interstitial

Lung Diseases Interstitial

Interstitial Lung Diseases

Myositis

Idiopathic Inflammatory Myopathy

Idiopathic Inflammatory Myositis

Iim

Imm

Idiopathic Inflammatory Myopathies

Myopathy, Familial Idiopathic Inflammatory

Inflammatory Disorder Of Muscle

Idiopathic Inflammatory Myopathy, Familial

Inflammatory Myopathy, Idiopathic

Myopathies Idiopathic Inflammatory

Familial Idiopathic Inflammatory Myopathy

Lung Disease

Lung Diseases

Disorder Of Lung

Abnormality Of The Lung

Hand, Foot And Mouth Disease

Vesicular Stomatitis And Exanthem

Dermatomyositis

Amyopathic Dermatomyositis

Dermatopolymyositis

Adult Dermatomyositis

Polymyositis With Skin Involvement

Adult Type Dermatomyositis

Petges-Clejat Syndrome

Measles

Rubeola

Morbilli

Measles Nos

Koplik Spots

Viral Infectious Disease

Viral Disease

Arbovirus Infections

Virus Infection

Virus Diseases

Viral Infection

Viral Infections

Virus Infections

Hepatitis

Chronic Hepatitis

Chronic Persistent Hepatitis

Acute Hepatitis

Hepatitis, Chronic

Acute And Subacute Liver Necrosis

Acute/Subac. Necrosis Of Liver

Animal Hepatitis

Hepatitis Chronic

Hepatitis A

Hepatitis, Animal

Hepatitis Due To Toxoplasmosis

Hepatitis In Toxoplasmosis

Toxoplasmal Hepatitis

Chronic Hepatitis, Unspecified

Chronic Active Hepatitis Nec

Other Specified Chronic Hepatitis

Chronic Persistent Hepatitis Nec

Chronic Lobular Hepatitis Nec

Antisynthetase Syndrome

As Syndrome

Anti-Jo1 Syndrome

Malaria

Malaria, Susceptibility To

Malaria, Resistance To

Malaria, Cerebral

Cerebral Malaria

Malaria, Severe, Susceptibility To

Malaria, Severe, Resistance To

Malaria, Cerebral, Susceptibility To

Induced Malaria

Malaria, Vivax, Protection Against

Malaria, Severe

Malaria, Cerebral, Reduced Risk Of

Malaria, Protection Against

Resistance To Malaria Due To G6pd Deficiency

Malaria Due To G6pd Deficiency

Malarial Encephalitis

CM

Malaria Cerebral

Susceptibility To Malaria

Acute Pernicious Fever

Aestivo-Autumnal Fever

Aestivo Autumnal Malaria

Chagres Fever

Continued Malaria Fever

Estivo-Autumnal Fever

Estivo-Autumnal Malaria

Estivo-Autumnal Malarial Fever

Falciparum Fever

Malignant Tertian Fever

Malignant Tertian Malaria

Pernicious Intermittent Fever

Pernicious Malaria

Quotidian Malaria

Subtertian Fever

Subtertian Malaria Fever

Subtertian Malignant Tertian Malaria

Tropical Malaria

Algid Malaria

Bilious Haemoglobinuric Fever

Black Water Fever

Blackwater Fever

Malarial Blackwater Fever

Severe Malarial Falciparum

West African Fever

Malarial Haematinuria

Haemoglobinuric Fever

Haemoglobinuric Malaria

Severe Plasmodium Falciparum Malaria

Malarial Haemoglobinuria

Malarial Haematuria

Falciparum Malaria [Malignant Tertian]

Malaria Tropica

Malarial Shock

Chagres Virus Disease

Malignant Malaria

Mtm - [Malignant Tertian Malaria]

Tm -[Malignant Tertian Malaria]

Panama Fever

St - [Subtertian Malaria]

Malarial Quotidian

Benign Tertian Malaria

Tertian Ague

Vivax Fever

Plasmodium Vivax Malaria Nos

Btm - [Benign Tertian Malaria]

Bt - [Benign Tertian Malaria]

Vivax Malaria

Benign Tertian Vivax Malaria

Tertian Malaria

Quartan Malaria

Quartan Ague

Quartan Fever

Plasmodium Malariae Malaria Nos

Quartan Malarial

Malaria By Plasmodium Malariae

Malariae Malaria

Ovale Tertian Malaria

Plasmodium Ovale Fever

Malaria Fever By Plasmodium Ovale

Ovale Malaria

Malaria By Plasmodium Ovale

Malarial Ovale

Marsh Fever

Remittent Congestive Fever

Coastal Fever

Remittent Gastric Fever

Miasmatic Fever

Congestive Remittent Fever

Intermittent Fever

Jungle Fever

Paludism

Cameroon Fever

Ague

Corsican Fever

Intermittent Bilious Fever

Disease Due To Plasmodiidae

Malarial Fever

Plasmodiosis

Remittent Fever

Roman Fever

Malaria Fever Nos

Malaria Nos

Paludal Fever

Clinically Diagnosed Malaria

Clinically Diagnosed Malaria Without Parasitological Confirmation

Congestive Fever

Malarial Cachexia

Marsh Cachexia

Paludal Cachexia

Recurrent Malaria

Remittent Malaria

Dengue Virus

Dengue Virus, Susceptibility To

Dengue Fever, Protection Against

Dengue Fever

Lupus Erythematosus

Lupus

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus, Systemic

Subacute Cutaneous Lupus

Le - [Lupus Erythematosus]

West Nile Virus

West Nile Virus, Susceptibility To

Wnv

Wnv, Susceptibility To

West Nile Viral Infection

Encephalitis, West Nile Fever

West Nile Fever

Herpes Simplex

Herpes Simplex Infections

Herpesvirus Hominis Disease

Herpes Simplex Disease

Herpesviral Infection Due To Herpes Simplex

Infections Due To Simplex Virus

Herpes Nos

Subacute Sclerosing Panencephalitis

SSPE

Dawson Encephalitis

Immunosuppressive Measles Encephalitis

Subacute Sclerosing Leukoencephalitis

Panencephalitis, Subacute Sclerosing

Subacute Sclerosing Leukoencephalopathy

Van Bogaert'S Sclerosing Leukoencephalitis

Dawson Disease

Subacute Inclusion Body Encephalitis

Van Bogaert Disease

Van Bogaert Encephalitis

Measles Inclusion Body Encephalitis

Mibe - [Measles Inclusion Body Encephalitis]

Sspe - [Subacute Sclerosing Panencephalitis]

Van Bogaert Leukoencephalitis

Van Bogaert Sclerosing Leukoencephalitis

Dawson Inclusion Body Encephalitis

Van Bogaert Sclerosing Leukoencephalopathy

Bodechtel Guttman Disease

Diffuse Sclerosing Encephalitis

Hepatitis C

Chronic Hepatitis C

Hepatitis C Infection

Hepatitis Nona Nonb

Nanbh

Viral Hepatitis C

Hepatitis C Chronic

Hepatitis C, Chronic

Chronic Type C Viral Hepatitis

Chronic Hcv - [Hepatitis C Virus] Infection

Hepatitis C Nos

Hepatitis C Infection Nos

Hepatitis C-Related Cirrhosis

Type C Viral Hepatitis

Hep C Nos

Lymphoid Interstitial Pneumonia

Lymphocytic Interstitial Pneumonia

Lip Disease

Lip Diseases

LIP

Disease Of Lips

Adult Dermatomyositis

Adult Onset Dermatomyositis

Adult Type Dermatomyositis

Acute Interstitial Pneumonia

Acute Interstitial Pneumonitis

Hamman-Rich Syndrome

Accelerated Interstitial Pneumonia

Aip

Hamman-Rich Disease

Idiopathic Pulmonary Fibrosis, Acute Fatal Form

Idiopathic Pulmonary Fibrosis

Childhood Type Dermatomyositis

Juvenile Dermatomyositis

Juvenile Dm

Childhood Dermatomyositis

Amyopathic Dermatomyositis

Adm

Dermatomyositis Sine Myositis

Dermatomyositis, Childhood Type

Mouth Disease

Mouth Diseases

Mouth Disorders

Severe Acute Respiratory Syndrome

Sars

Sars-Cov Infection

Sars-1

Sar Deficiency

Sars - [Severe Acute Respiratory Syndrome]

Nonspecific Interstitial Pneumonia

Nsip

Non-Specific Interstitial Pneumonia

Non-Specific Idiopathic Interstitial Pneumonia

Non-Specific Interstitial Pneumonia Nos

Chikungunya

Chikungunya Fever

Arbovirus A Chikungunya Type

Chik

Chikv Infection

Ck

Chikungunya Virus Infection

Chikungunya Haemorrhagic Fever

Chikungunya Viral Disease

Chikungunya Mosquito-Borne Viral Fever

Microphthalmia With Limb Anomalies

Waardenburg Anophthalmia Syndrome

Ophthalmoacromelic Syndrome

OAS

MLA

Anophthalmia-Syndactyly

Anophthalmia-Syndactyly Syndrome

Anophthalmos With Limb Anomalies

Anophthalmia Waardenburg Syndrome

Anophthalmos-Syndactyly

Ophthalmo-Acromelic Syndrome

Anophthalmia-Waardenburg Syndrome

Anophthalmos-Limb Anomalies Syndrome

Syndactyly-Anophthalmos Syndrome

Microphthalmia, With Limb Anomalies

Systemic Lupus Erythematosus

Lupus Nephritis

SLE

Disseminated Lupus Erythematosus

Systemic Lupus Erythematosus, Susceptibility To

Lupus Erythematosus, Systemic

Lupus Nephritis, Susceptibility To

Libman-Sacks Disease

Systemic Lupus Erythematosus Susceptibility To

Sle - Lupus Erythematosus, Systemic

Le Syndrome

Lupus

Lupus Erythematosus Systemic

Lupus Erythematosus, Systemic, Susceptibility To

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus

Systemic Lupus Erythematosus Nos

Sle - [Systemic Lupus Erythematosus]

Melanoma

Malignant Melanoma

Cutaneous Melanoma

Naevocarcinoma

Malignant Melanomas

Psoriasis
Idiopathic Interstitial Pneumonia

Hamman-Rich Syndrome

Diffuse Idiopathic Pulmonary Fibrosis

Idiopathic Fibrosing Alveolitis

Ipf

Idiopathic Interstitial Pneumonias

Idiopathic Interstitial Pneumonia, Not Otherwise Specified

Pulmonary Fibrosis

Diabetes Mellitus

Diabetes

Stomatitis
Immunodeficiency 15a

IMD15A

Systemic Scleroderma

Scleroderma

Progressive Systemic Sclerosis

Systemic Sclerosis

Scleroderma, Systemic

Scleroderma Syndrome

Dermatosclerosis

Familial Progressive Scleroderma

Progressive Scleroderma

Scleroderma Disease

Scleroderma, Localized

Diffuse Scleroderma

Scleroderma, Familial Progressive

Sting-Associated Vasculopathy With Onset In Infancy

Savi

Sting-Associated Vasculopathy, Infantile Onset

Sting-Associated Vasculopathy, Infantile-Onset

Chilblain Lupus 1

Chilblain Lupus

CHBL1

Chilblain Lupus Erythematosus

Chle

Hutchinson Lupus

Chilblain Lupus, Type 1

Avian Influenza

Bird Flu

Influenza In Birds

Avian Flu

Palmoplantar Keratoderma, Punctate Type Iii

Acrokeratoelastoidosis Of Costa

Ake

Punctate Palmoplantar Keratoderma Type Iii

PPKP3

Keratoderma, Palmoplantar, Punctate Type 3

Punctate Palmoplantar Hyperkeratosis Type 3

Punctate Palmoplantar Keratoderma Type 3

Rare Form Of Hirschsprung'S Disease

Acrokeratoelastoidosis

Collagenous Plaques Of Hands And Feet

Aganglionosis, Total Intestinal

Collagenous Plaques Of Hand And Feet

Palmoplantar Keratoderma, Punctate Type 3

Aganglionosis, Total Colonic

Ntia

Near-Total Intestinal Aganglionosis

Tia

Myocarditis

Myocardial Inflammation

Inflammatory Cardiomyopathy

Paralytic Poliomyelitis

Poliomyelitis, Paralytic

Renal Pelvis Squamous Cell Carcinoma

Epidermoid Carcinoma Of The Kidney Pelvis

Squamous Cell Carcinoma Of Renal Pelvis

Exanthem

Exanthema

Rash

Rashes

Lassa Fever

Lf

Lassa Hemorrhagic Fever

Lf - [Lassa Fever]

Cutaneous Lupus Erythematosus

Lupus Erythematosus, Cutaneous

Lupus Erythematosus Cutaneous

Dyschromatosis Symmetrica Hereditaria

Dyschromatosis Symmetrica Hereditaria 1

Reticulate Acropigmentation Of Dohi

DSH

Dsh1

Symmetric Dyschromatosis Of The Extremities

Rad

Familial Reticulate Acropigmentation Of Dohi

Acropigmentation Of Dohi

Symmetrical Dyschromatosis Of Extremities

Torch Syndrome
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations

Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations

Crv

Rvcl

Rvcl-S

Vasculopathy, Retinal, With Cerebral Leukodystrophy

Retinopathy, Vascular, With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena

Retinal Vasculopathy With Cerebral Leukodystrophy

Retinal Vasculopathy And Cerebral Leukoencephalopathy

Hereditary Vascular Retinopathy

Hvr

RVCLS

Cerebroretinal Vasculopathy, Hereditary

Cerebroretinal Vasculopathy

Herns

Vasculopathy, Retinal, With Cerebral Leukodystrophy, Formerly

Hereditary Cerebroretinal Vasculopathy

Hereditary Endotheliopathy, Retinopathy, Nephropathy, Stroke

Hereditary Systemic Angiopathy

Hsa

Retinal Vasculopathy With Cerebral Leukodystrophy With Systemic Manifestations

Adrvcl

Autosomal Dominant Retinal Vasculopathy With Cerebral Leukodystrophy

Hereditary Endotheliopathy With Retinopathy-Nephropathy-Stroke

Vascular Retinopathy With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena

Cryptogenic Organizing Pneumonia

Bronchiolitis Obliterans Organizing Pneumonia

Boop

Constrictive Bronchiolitis

Cryptogenic Organizing Pneumonitis

Cop

Bronchiolitis Obliterans Organising Pneumonia

Cryptogenic Organising Pneumonia

Cryptogenic Organising Pneumonitis

Idiopathic Bronchiolitis Obliterans With Organising Pneumonia

Idiopathic Bronchiolitis Obliterans With Organizing Pneumonia

Organizing Pneumonia

Idiopathic Boop

Idiopathic Bronchiolitis Obliterans Organizing Pneumonia

Organized Pneumonia

Basal Ganglia Calcification

Fahr'S Syndrome

Fahr'S Disease

Fahr Disease

Ebola Hemorrhagic Fever

Ebola Virus Disease

Viral Hemorrhagic Fever

Hemorrhagic Fever, Ebola

Ebola

Ehf

Ebola Fever

Hemorrhagic Fevers, Viral

Ebola Haemorrhagic Fever

Ebod - [Ebola Disease]

Evd - [Ebola Virus Disease]

Ebola Virus Haemorrhagic Fever

Vhf - [Viral Haemorrhagic Fever] Nos

Viral Haemorrhagic Fever, Not Otherwise Specified

Poliomyelitis

Polio

Infantile Paralysis

Muscle Tissue Disease
Swine Influenza

Influenza Due To Influenza A Virus Subtype H1n1

Herpangina

Vesicular Pharyngitis

West Nile Encephalitis

West-Nile Encephalitis

West Nile Fever

West Nile Fever Encephalitis

West Nile Fever With Encephalitis

West-Nile Fever

Encephalitis, West Nile Fever

Muscular Disease
Coronavirus Infectious Disease
Thrombocytopenia

Low Platelet Count

Low Platelets

Decreased Platelets

Platelet Dysfunction Nos

Integumentary System Disease
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Skin Disease

Skin Diseases

Genodermatosis

Abnormality Of The Skin

Skin Diseases, Genetic

Skin And Subcutaneous Tissue Disease

Dermatologic Disorders

Myopathy

Muscular Diseases

Myopathies

Celiac Disease 1

Celiac Disease

Coeliac Disease

Celiac Sprue

Celiac Disease, Susceptibility To

Gluten-Sensitive Enteropathy

Nontropical Sprue

Sprue

CELIAC1

Celiac Disease, Susceptibility To, 1

Celiac Sprue 1

Celiac Sprue, Susceptibility To, 1

Gluten-Sensitive Enteropathy 1

Gluten-Sensitive Enteropathy, Susceptibility To, 1

Idiopathic Steatorrhea

Cœliac Disease

Gluten Intolerance

Gluten-Induced Enteropathy

Gluten Enteropathy

Celiac Disease, Susceptibility To, Type 1

Childhood Celiac Disease

Coeliac Rickets

Gee Disease

Gee-Herter Disease

Heubner-Herter Disease

Idiopathic Steatorrhoea

Thaysen'S Disease

Herter Gee Syndrome

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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