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UniProtKB - Q9BYX4 (IFIH1_HUMAN)

Protein

Interferon-induced helicase C domain-containing protein 1

Gene

IFIH1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Innate immune receptor which acts as a cytoplasmic sensor of viral nucleic acids and plays a major role in sensing viral infection and in the activation of a cascade of antiviral responses including the induction of type I interferons and proinflammatory cytokines. Its ligands include mRNA lacking 2'-O-methylation at their 5' cap and long-dsRNA (>1 kb in length). Upon ligand binding it associates with mitochondria antiviral signaling protein (MAVS/IPS1) which activates the IKK-related kinases: TBK1 and IKBKE which phosphorylate interferon regulatory factors: IRF3 and IRF7 which in turn activate transcription of antiviral immunological genes, including interferons (IFNs); IFN-alpha and IFN-beta. Responsible for detecting the Picornaviridae family members such as encephalomyocarditis virus (EMCV) and mengo encephalomyocarditis virus (ENMG). Can also detect other viruses such as dengue virus (DENV), west Nile virus (WNV), and reovirus. Also involved in antiviral signaling in response to viruses containing a dsDNA genome, such as vaccinia virus. Plays an important role in amplifying innate immune signaling through recognition of RNA metabolites that are produced during virus infection by ribonuclease L (RNase L). May play an important role in enhancing natural killer cell function and may be involved in growth inhibition and apoptosis in several tumor cell lines.5 Publications

Miscellaneous

In HIV-1 infected HeLa-CD4 cells, overexpression of IFIH1 results in a great increase in the level of secreted viral p24 protein.

Catalytic activityi

ATP + H2O = ADP + phosphate.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi907ZincPROSITE-ProRule annotation1
Metal bindingi910ZincPROSITE-ProRule annotation1
Metal bindingi962ZincPROSITE-ProRule annotation1
Metal bindingi964ZincPROSITE-ProRule annotation1

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionHelicase, Hydrolase, RNA-binding
Biological processAntiviral defense, Host-virus interaction, Immunity, Innate immunity
LigandATP-binding, Metal-binding, Nucleotide-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-168928 DDX58/IFIH1-mediated induction of interferon-alpha/beta
R-HSA-5689880 Ub-specific processing proteases
R-HSA-5689896 Ovarian tumor domain proteases
R-HSA-918233 TRAF3-dependent IRF activation pathway
R-HSA-933541 TRAF6 mediated IRF7 activation
R-HSA-933542 TRAF6 mediated NF-kB activation
R-HSA-933543 NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
R-HSA-936440 Negative regulators of DDX58/IFIH1 signaling

Names & Taxonomyi

Protein namesi
Recommended name:
Interferon-induced helicase C domain-containing protein 1 (EC:3.6.4.13)
Alternative name(s):
Clinically amyopathic dermatomyositis autoantigen 140 kDa
Short name:
CADM-140 autoantigen
Helicase with 2 CARD domains
Short name:
Helicard
Interferon-induced with helicase C domain protein 1
Melanoma differentiation-associated protein 5
Short name:
MDA-5
Murabutide down-regulated protein
RIG-I-like receptor 2
Short name:
RLR-2
RNA helicase-DEAD box protein 116
Gene namesi
Name:IFIH1
Synonyms:MDA5, RH116
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000115267.5
HGNCiHGNC:18873 IFIH1
MIMi606951 gene
neXtProtiNX_Q9BYX4

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Diabetes mellitus, insulin-dependent, 19 (IDDM19)1 Publication
Disease susceptibility may be associated with variations affecting the gene represented in this entry.
Disease descriptionA multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
See also OMIM:610155
IFIH1 is the CADM-140 autoantigen, involved in clinically amyopathic dermatomyositis (CADM). This is a chronic inflammatory disorder that shows typical skin manifestations of dermatomyositis but has no or little evidence of clinical myositis. Anti-CADM-140 antibodies appear to be specific to dermatomyositis, especially CADM. Patients with anti-CADM-140 antibodies frequently develop life-threatening acute progressive interstitial lung disease (ILD).2 Publications
Aicardi-Goutieres syndrome 7 (AGS7)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood.
See also OMIM:615846
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071375337R → G in AGS7; enhances the interferon signaling pathway activation; enhances the stability of filament formation; enhances dsRNA binding activity; no loss of ATP hydrolysis. 1 PublicationCorresponds to variant dbSNP:rs587777447EnsemblClinVar.1
Natural variantiVAR_071376372L → F in AGS7; enhances IFNB1 promoter activation; loss of ligand-induced responsiveness. 1 PublicationCorresponds to variant dbSNP:rs587777576EnsemblClinVar.1
Natural variantiVAR_071377393D → V in AGS7; enhances the interferon signaling pathway activation; enhances the stability of filament formation; enhances dsRNA binding activity; no loss of ATP hydrolysis. 1 PublicationCorresponds to variant dbSNP:rs587777449EnsemblClinVar.1
Natural variantiVAR_071378452A → T in AGS7; enhances IFNB1 promoter activation; loss of ligand-induced responsiveness. 1 PublicationCorresponds to variant dbSNP:rs587777575EnsemblClinVar.1
Natural variantiVAR_071379495G → R in AGS7; enhances the interferon signaling pathway activation; enhances the stability of filament formation; enhances dsRNA binding activity; no loss of ATP hydrolysis. 1 PublicationCorresponds to variant dbSNP:rs672601336EnsemblClinVar.1
Natural variantiVAR_071380720R → Q in AGS7; enhances the interferon signaling pathway activation; enhances the stability of filament formation; enhances dsRNA binding activity; no loss of ATP hydrolysis. 1 PublicationCorresponds to variant dbSNP:rs587777445EnsemblClinVar.1
Natural variantiVAR_071381779R → C in AGS7; enhances the interferon signaling pathway activation; enhances the stability of filament formation; enhances dsRNA binding activity; no loss of ATP hydrolysis. 1 PublicationCorresponds to variant dbSNP:rs587777448EnsemblClinVar.1
Natural variantiVAR_071382779R → H in AGS7; enhances the interferon signaling pathway activation; enhances the stability of filament formation; enhances dsRNA binding activity; enhances IFNB1 promoter activation; no loss of ATP hydrolysis. 2 PublicationsCorresponds to variant dbSNP:rs587777446EnsemblClinVar.1
Singleton-Merten syndrome 1 (SGMRT1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder with variable expression. Core features are marked aortic calcification, dental anomalies, osteopenia, acro-osteolysis, and to a lesser extent glaucoma, psoriasis, muscle weakness, and joint laxity. Dental anomalies include delayed eruption and immature root formation of anterior permanent teeth, early loss of permanent teeth due to short roots, acute root resorption, high caries, and aggressive alveolar bone loss. Additional clinical manifestations include particular facial characteristics and abnormal joint and muscle ligaments.
See also OMIM:182250
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073666822R → Q in SGMRT1; gain-of-function mutation resulting in enhanced INFB1 induction. 1 PublicationCorresponds to variant dbSNP:rs376048533EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi251D → A: No cleavage and no acceleration of DNA degradation. 1 Publication1
Mutagenesisi444E → A: No acceleration of DNA degradation, no binding to ATP, and no helicase activity. 1 Publication1
Mutagenesisi828S → A: Promotes multimerization after polyI:C stimulation; greatly enhances signaling. 1 Publication1
Mutagenesisi828S → D: Inhibits multimerization after polyI:C stimulation. 1 Publication1
Mutagenesisi829T → A: Moderately increases signaling. 1 Publication1

Keywords - Diseasei

Aicardi-Goutieres syndrome, Diabetes mellitus, Disease mutation

Organism-specific databases

DisGeNETi64135
MalaCardsiIFIH1
MIMi182250 phenotype
610155 phenotype
615846 phenotype
OpenTargetsiENSG00000115267
Orphaneti51 Aicardi-Goutieres syndrome
85191 Singleton-Merten dysplasia
PharmGKBiPA134889215

Polymorphism and mutation databases

BioMutaiIFIH1
DMDMi134047802

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001020121 – 1025Interferon-induced helicase C domain-containing protein 1Add BLAST1025

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei289PhosphoserineBy similarity1
Modified residuei291PhosphoserineBy similarity1
Modified residuei301PhosphoserineBy similarity1
Modified residuei645PhosphoserineBy similarity1
Modified residuei828Phosphoserine; by RIOK31 Publication1

Post-translational modificationi

Sumoylated. Sumoylation positively regulates its role in type I interferon induction and is enhanced by PIAS2-beta.1 Publication
Ubiquitinated by RNF125, leading to its degradation by the proteasome (PubMed:17460044). USP17/UPS17L2-dependent deubiquitination positively regulates the receptor (PubMed:20368735).2 Publications
During apoptosis, processed into 3 cleavage products. The helicase-containing fragment, once liberated from the CARD domains, translocate from the cytoplasm to the nucleus. The processed protein significantly sensitizes cells to DNA degradation.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei208 – 209CleavageBy similarity2
Sitei216 – 217CleavageBy similarity2
Sitei251 – 252CleavageBy similarity2

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ9BYX4
MaxQBiQ9BYX4
PaxDbiQ9BYX4
PeptideAtlasiQ9BYX4
PRIDEiQ9BYX4
ProteomicsDBi79740
79741 [Q9BYX4-2]

PTM databases

iPTMnetiQ9BYX4
PhosphoSitePlusiQ9BYX4

Expressioni

Tissue specificityi

Widely expressed, at a low level. Expression is detected at slightly highest levels in placenta, pancreas and spleen and at barely levels in detectable brain, testis and lung.3 Publications

Inductioni

By interferon (IFN) and TNF.1 Publication

Gene expression databases

BgeeiENSG00000115267 Expressed in 214 organ(s), highest expression level in parotid gland
CleanExiHS_IFIH1
GenevisibleiQ9BYX4 HS

Organism-specific databases

HPAiHPA002656

Interactioni

Subunit structurei

Monomer in the absence of ligands and homodimerizes in the presence of dsRNA ligands. Can assemble into helical or linear polymeric filaments on long dsRNA. Interacts with MAVS/IPS1. Interacts (via the CARD domains) with TKFC, the interaction is inhibited by viral infection (PubMed:17600090). Interacts with PCBP2. Interacts with NLRC5. Interacts with PIAS2-beta. Interacts with DDX60. Interacts with ANKRD17. Interacts with IKBKE (PubMed:17600090). Interacts with ATG5 and ATG12, either as ATG5 and ATG12 monomers or as ATG12-ATG5 conjugates (PubMed:17709747).13 Publications
(Microbial infection) Interacts with V protein of paramyxoviruses; these interactions prevent IFN-beta induction, and subsquent establishment of an antiviral state.1 Publication
(Microbial infection) Interacts with herpes simplex virus 1 protein US11; this interaction prevents the interaction of MAVS/IPS1 to IFIH1.1 Publication

Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi122082, 16 interactors
DIPiDIP-42607N
IntActiQ9BYX4, 43 interactors
STRINGi9606.ENSP00000263642

Structurei

Secondary structure

11025
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ9BYX4
SMRiQ9BYX4
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9BYX4

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini7 – 97CARD 1Add BLAST91
Domaini110 – 190CARD 2Add BLAST81
Domaini316 – 509Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST194
Domaini700 – 882Helicase C-terminalPROSITE-ProRule annotationAdd BLAST183
Domaini893 – 1020RLR CTRPROSITE-ProRule annotationAdd BLAST128

Sequence similaritiesi

Belongs to the helicase family. RLR subfamily.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0354 Eukaryota
COG1111 LUCA
GeneTreeiENSGT00510000046789
HOGENOMiHOG000230992
HOVERGENiHBG106019
InParanoidiQ9BYX4
KOiK12647
OMAiRYLISCF
OrthoDBiEOG091G01PQ
PhylomeDBiQ9BYX4
TreeFamiTF330258

Family and domain databases

CDDicd00079 HELICc, 1 hit
Gene3Di2.170.150.30, 1 hit
InterProiView protein in InterPro
IPR031964 CARD_dom
IPR006935 Helicase/UvrB_N
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR038557 RLR_C_sf
IPR021673 RLR_CTR
PfamiView protein in Pfam
PF16739 CARD_2, 2 hits
PF00271 Helicase_C, 1 hit
PF04851 ResIII, 1 hit
PF11648 RIG-I_C-RD, 1 hit
SMARTiView protein in SMART
SM00487 DEXDc, 1 hit
SM00490 HELICc, 1 hit
SUPFAMiSSF52540 SSF52540, 2 hits
PROSITEiView protein in PROSITE
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit
PS51789 RLR_CTR, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9BYX4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSNGYSTDEN FRYLISCFRA RVKMYIQVEP VLDYLTFLPA EVKEQIQRTV 
        60         70         80         90        100
ATSGNMQAVE LLLSTLEKGV WHLGWTREFV EALRRTGSPL AARYMNPELT 
       110        120        130        140        150
DLPSPSFENA HDEYLQLLNL LQPTLVDKLL VRDVLDKCME EELLTIEDRN 
       160        170        180        190        200
RIAAAENNGN ESGVRELLKR IVQKENWFSA FLNVLRQTGN NELVQELTGS 
       210        220        230        240        250
DCSESNAEIE NLSQVDGPQV EEQLLSTTVQ PNLEKEVWGM ENNSSESSFA 
       260        270        280        290        300
DSSVVSESDT SLAEGSVSCL DESLGHNSNM GSDSGTMGSD SDEENVAARA 
       310        320        330        340        350
SPEPELQLRP YQMEVAQPAL EGKNIIICLP TGSGKTRVAV YIAKDHLDKK 
       360        370        380        390        400
KKASEPGKVI VLVNKVLLVE QLFRKEFQPF LKKWYRVIGL SGDTQLKISF 
       410        420        430        440        450
PEVVKSCDII ISTAQILENS LLNLENGEDA GVQLSDFSLI IIDECHHTNK 
       460        470        480        490        500
EAVYNNIMRH YLMQKLKNNR LKKENKPVIP LPQILGLTAS PGVGGATKQA 
       510        520        530        540        550
KAEEHILKLC ANLDAFTIKT VKENLDQLKN QIQEPCKKFA IADATREDPF 
       560        570        580        590        600
KEKLLEIMTR IQTYCQMSPM SDFGTQPYEQ WAIQMEKKAA KEGNRKERVC 
       610        620        630        640        650
AEHLRKYNEA LQINDTIRMI DAYTHLETFY NEEKDKKFAV IEDDSDEGGD 
       660        670        680        690        700
DEYCDGDEDE DDLKKPLKLD ETDRFLMTLF FENNKMLKRL AENPEYENEK 
       710        720        730        740        750
LTKLRNTIME QYTRTEESAR GIIFTKTRQS AYALSQWITE NEKFAEVGVK 
       760        770        780        790        800
AHHLIGAGHS SEFKPMTQNE QKEVISKFRT GKINLLIATT VAEEGLDIKE 
       810        820        830        840        850
CNIVIRYGLV TNEIAMVQAR GRARADESTY VLVAHSGSGV IEHETVNDFR 
       860        870        880        890        900
EKMMYKAIHC VQNMKPEEYA HKILELQMQS IMEKKMKTKR NIAKHYKNNP 
       910        920        930        940        950
SLITFLCKNC SVLACSGEDI HVIEKMHHVN MTPEFKELYI VRENKALQKK 
       960        970        980        990       1000
CADYQINGEI ICKCGQAWGT MMVHKGLDLP CLKIRNFVVV FKNNSTKKQY 
      1010       1020 
KKWVELPITF PNLDYSECCL FSDED
Length:1,025
Mass (Da):116,689
Last modified:March 20, 2007 - v3
Checksum:i789CFB4824B92DC9
GO
Isoform 2 (identifier: Q9BYX4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     208-221: EIENLSQVDGPQVE → GICNFTEEDSSNSA
     222-1025: Missing.

Note: No experimental confirmation available.
Show »
Length:221
Mass (Da):25,129
Checksum:i3C7139ECAC564BB5
GO

Sequence cautioni

The sequence AAH78180 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence BAB71141 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti439L → F in AAG54076 (PubMed:14645903).Curated1
Sequence conflicti475N → H in BAB71141 (PubMed:14702039).Curated1
Sequence conflicti592E → K in AAG34368 (PubMed:11805321).Curated1
Sequence conflicti598R → S in AAG54076 (PubMed:14645903).Curated1
Sequence conflicti609E → K in AAG54076 (PubMed:14645903).Curated1
Sequence conflicti782K → R in BAB71141 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071375337R → G in AGS7; enhances the interferon signaling pathway activation; enhances the stability of filament formation; enhances dsRNA binding activity; no loss of ATP hydrolysis. 1 PublicationCorresponds to variant dbSNP:rs587777447EnsemblClinVar.1
Natural variantiVAR_071376372L → F in AGS7; enhances IFNB1 promoter activation; loss of ligand-induced responsiveness. 1 PublicationCorresponds to variant dbSNP:rs587777576EnsemblClinVar.1
Natural variantiVAR_071377393D → V in AGS7; enhances the interferon signaling pathway activation; enhances the stability of filament formation; enhances dsRNA binding activity; no loss of ATP hydrolysis. 1 PublicationCorresponds to variant dbSNP:rs587777449EnsemblClinVar.1
Natural variantiVAR_071378452A → T in AGS7; enhances IFNB1 promoter activation; loss of ligand-induced responsiveness. 1 PublicationCorresponds to variant dbSNP:rs587777575EnsemblClinVar.1
Natural variantiVAR_031226460H → R. Corresponds to variant dbSNP:rs10930046Ensembl.1
Natural variantiVAR_071379495G → R in AGS7; enhances the interferon signaling pathway activation; enhances the stability of filament formation; enhances dsRNA binding activity; no loss of ATP hydrolysis. 1 PublicationCorresponds to variant dbSNP:rs672601336EnsemblClinVar.1
Natural variantiVAR_071380720R → Q in AGS7; enhances the interferon signaling pathway activation; enhances the stability of filament formation; enhances dsRNA binding activity; no loss of ATP hydrolysis. 1 PublicationCorresponds to variant dbSNP:rs587777445EnsemblClinVar.1
Natural variantiVAR_071381779R → C in AGS7; enhances the interferon signaling pathway activation; enhances the stability of filament formation; enhances dsRNA binding activity; no loss of ATP hydrolysis. 1 PublicationCorresponds to variant dbSNP:rs587777448EnsemblClinVar.1
Natural variantiVAR_071382779R → H in AGS7; enhances the interferon signaling pathway activation; enhances the stability of filament formation; enhances dsRNA binding activity; enhances IFNB1 promoter activation; no loss of ATP hydrolysis. 2 PublicationsCorresponds to variant dbSNP:rs587777446EnsemblClinVar.1
Natural variantiVAR_073666822R → Q in SGMRT1; gain-of-function mutation resulting in enhanced INFB1 induction. 1 PublicationCorresponds to variant dbSNP:rs376048533EnsemblClinVar.1
Natural variantiVAR_021594843H → R3 PublicationsCorresponds to variant dbSNP:rs3747517EnsemblClinVar.1
Natural variantiVAR_021595946A → T Associated with susceptibility to IDDM19. 3 PublicationsCorresponds to variant dbSNP:rs1990760EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_013337208 – 221EIENL…GPQVE → GICNFTEEDSSNSA in isoform 2. 1 PublicationAdd BLAST14
Alternative sequenceiVSP_013338222 – 1025Missing in isoform 2. 1 PublicationAdd BLAST804

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF095844 mRNA Translation: AAG34368.1
AY017378 mRNA Translation: AAG54076.1
BC046208 mRNA Translation: AAH46208.1
BC078180 mRNA Translation: AAH78180.1 Sequence problems.
BC111750 mRNA Translation: AAI11751.1
AK056293 mRNA Translation: BAB71141.1 Different initiation.
CCDSiCCDS2217.1 [Q9BYX4-1]
RefSeqiNP_071451.2, NM_022168.3 [Q9BYX4-1]
UniGeneiHs.163173

Genome annotation databases

EnsembliENST00000263642; ENSP00000263642; ENSG00000115267 [Q9BYX4-1]
ENST00000421365; ENSP00000408450; ENSG00000115267 [Q9BYX4-2]
GeneIDi64135
KEGGihsa:64135
UCSCiuc002uce.5 human [Q9BYX4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF095844 mRNA Translation: AAG34368.1
AY017378 mRNA Translation: AAG54076.1
BC046208 mRNA Translation: AAH46208.1
BC078180 mRNA Translation: AAH78180.1 Sequence problems.
BC111750 mRNA Translation: AAI11751.1
AK056293 mRNA Translation: BAB71141.1 Different initiation.
CCDSiCCDS2217.1 [Q9BYX4-1]
RefSeqiNP_071451.2, NM_022168.3 [Q9BYX4-1]
UniGeneiHs.163173

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2RQBNMR-A896-1025[»]
3B6EX-ray1.60A277-490[»]
3GA3X-ray1.45A893-1017[»]
4GL2X-ray3.56A/B306-1017[»]
ProteinModelPortaliQ9BYX4
SMRiQ9BYX4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122082, 16 interactors
DIPiDIP-42607N
IntActiQ9BYX4, 43 interactors
STRINGi9606.ENSP00000263642

PTM databases

iPTMnetiQ9BYX4
PhosphoSitePlusiQ9BYX4

Polymorphism and mutation databases

BioMutaiIFIH1
DMDMi134047802

Proteomic databases

EPDiQ9BYX4
MaxQBiQ9BYX4
PaxDbiQ9BYX4
PeptideAtlasiQ9BYX4
PRIDEiQ9BYX4
ProteomicsDBi79740
79741 [Q9BYX4-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000263642; ENSP00000263642; ENSG00000115267 [Q9BYX4-1]
ENST00000421365; ENSP00000408450; ENSG00000115267 [Q9BYX4-2]
GeneIDi64135
KEGGihsa:64135
UCSCiuc002uce.5 human [Q9BYX4-1]

Organism-specific databases

CTDi64135
DisGeNETi64135
EuPathDBiHostDB:ENSG00000115267.5
GeneCardsiIFIH1
HGNCiHGNC:18873 IFIH1
HPAiHPA002656
MalaCardsiIFIH1
MIMi182250 phenotype
606951 gene
610155 phenotype
615846 phenotype
neXtProtiNX_Q9BYX4
OpenTargetsiENSG00000115267
Orphaneti51 Aicardi-Goutieres syndrome
85191 Singleton-Merten dysplasia
PharmGKBiPA134889215
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0354 Eukaryota
COG1111 LUCA
GeneTreeiENSGT00510000046789
HOGENOMiHOG000230992
HOVERGENiHBG106019
InParanoidiQ9BYX4
KOiK12647
OMAiRYLISCF
OrthoDBiEOG091G01PQ
PhylomeDBiQ9BYX4
TreeFamiTF330258

Enzyme and pathway databases

ReactomeiR-HSA-168928 DDX58/IFIH1-mediated induction of interferon-alpha/beta
R-HSA-5689880 Ub-specific processing proteases
R-HSA-5689896 Ovarian tumor domain proteases
R-HSA-918233 TRAF3-dependent IRF activation pathway
R-HSA-933541 TRAF6 mediated IRF7 activation
R-HSA-933542 TRAF6 mediated NF-kB activation
R-HSA-933543 NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
R-HSA-936440 Negative regulators of DDX58/IFIH1 signaling

Miscellaneous databases

ChiTaRSiIFIH1 human
EvolutionaryTraceiQ9BYX4
GeneWikiiMDA5
GenomeRNAii64135
PROiPR:Q9BYX4
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000115267 Expressed in 214 organ(s), highest expression level in parotid gland
CleanExiHS_IFIH1
GenevisibleiQ9BYX4 HS

Family and domain databases

CDDicd00079 HELICc, 1 hit
Gene3Di2.170.150.30, 1 hit
InterProiView protein in InterPro
IPR031964 CARD_dom
IPR006935 Helicase/UvrB_N
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR038557 RLR_C_sf
IPR021673 RLR_CTR
PfamiView protein in Pfam
PF16739 CARD_2, 2 hits
PF00271 Helicase_C, 1 hit
PF04851 ResIII, 1 hit
PF11648 RIG-I_C-RD, 1 hit
SMARTiView protein in SMART
SM00487 DEXDc, 1 hit
SM00490 HELICc, 1 hit
SUPFAMiSSF52540 SSF52540, 2 hits
PROSITEiView protein in PROSITE
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit
PS51789 RLR_CTR, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiIFIH1_HUMAN
AccessioniPrimary (citable) accession number: Q9BYX4
Secondary accession number(s): Q2NKL6
, Q6DC96, Q86X56, Q96MX8, Q9H3G6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 12, 2005
Last sequence update: March 20, 2007
Last modified: November 7, 2018
This is version 167 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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