• Gene id: 64135

Gene Summary

• Gene Symbol: IFIH1   Gene   UCSC   Ensembl
• Aliases: AGS7, Hlcd, IDDM19, MDA-5, MDA5, RLR-2, SGMRT1
• Gene name: interferon induced with helicase C domain 1
• Alternate names: interferon-induced helicase C domain-containing protein 1, CADM-140 autoantigen, DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide, RIG-I-like receptor 2, RNA helicase-DEAD box protein 116, clinically amyopathic dermatomyositis autoantigen 140 kDa, helicard, helicase,
• Gene location: 2q24.2 (162318683: 162267073)     Exons: 16     NC_000002.12
• Gene summary(Entrez): 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 m
• OMIM: 606951

Protein Summary

• Protein general information: Q9BYX4  
  • Name: Interferon induced helicase C domain containing protein 1 (EC 3.6.4.13) (Clinically amyopathic dermatomyositis autoantigen 140 kDa) (CADM 140 autoantigen) (Helicase with 2 CARD domains) (Helicard) (Interferon induced with helicase C domain protein 1) (Mel
  • Length: 1025  
  • Mass: 116689
  • Tissue specificity: 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. {ECO
• Sequence:

  MSNGYSTDENFRYLISCFRARVKMYIQVEPVLDYLTFLPAEVKEQIQRTVATSGNMQAVELLLSTLEKGVWHLGW
  TREFVEALRRTGSPLAARYMNPELTDLPSPSFENAHDEYLQLLNLLQPTLVDKLLVRDVLDKCMEEELLTIEDRN
  RIAAAENNGNESGVRELLKRIVQKENWFSAFLNVLRQTGNNELVQELTGSDCSESNAEIENLSQVDGPQVEEQLL
  STTVQPNLEKEVWGMENNSSESSFADSSVVSESDTSLAEGSVSCLDESLGHNSNMGSDSGTMGSDSDEENVAARA
  SPEPELQLRPYQMEVAQPALEGKNIIICLPTGSGKTRVAVYIAKDHLDKKKKASEPGKVIVLVNKVLLVEQLFRK
  EFQPFLKKWYRVIGLSGDTQLKISFPEVVKSCDIIISTAQILENSLLNLENGEDAGVQLSDFSLIIIDECHHTNK
  EAVYNNIMRHYLMQKLKNNRLKKENKPVIPLPQILGLTASPGVGGATKQAKAEEHILKLCANLDAFTIKTVKENL
  DQLKNQIQEPCKKFAIADATREDPFKEKLLEIMTRIQTYCQMSPMSDFGTQPYEQWAIQMEKKAAKEGNRKERVC
  AEHLRKYNEALQINDTIRMIDAYTHLETFYNEEKDKKFAVIEDDSDEGGDDEYCDGDEDEDDLKKPLKLDETDRF
  LMTLFFENNKMLKRLAENPEYENEKLTKLRNTIMEQYTRTEESARGIIFTKTRQSAYALSQWITENEKFAEVGVK
  AHHLIGAGHSSEFKPMTQNEQKEVISKFRTGKINLLIATTVAEEGLDIKECNIVIRYGLVTNEIAMVQARGRARA
  DESTYVLVAHSGSGVIEHETVNDFREKMMYKAIHCVQNMKPEEYAHKILELQMQSIMEKKMKTKRNIAKHYKNNP
  SLITFLCKNCSVLACSGEDIHVIEKMHHVNMTPEFKELYIVRENKALQKKCADYQINGEIICKCGQAWGTMMVHK
  GLDLPCLKIRNFVVVFKNNSTKKQYKKWVELPITFPNLDYSECCLFSDED

• Structural information:
  • Protein Domains: (7..9-)
    (/note="CARD-1)
    (110..19-)
    (/note="CARD-2)
    (316..50-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00541-)
    (700..88-)
    (/note="Helicase-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU0-)
  • Interpro: IPR031964  IPR006935  IPR014001  IPR001650  IPR027417   IPR041204  IPR038557  IPR021673  
  • Prosite: PS51192 PS51194 PS51789
  • PDB: 2RQB 3B6E 3GA3 4GL2
  • PDBsum: 2RQB 3B6E 3GA3 4GL2
  • DIP: 42607
  • STRING: ENSP00000263642
• Other Databases: GeneCards:  IFIH1  Malacards:  IFIH1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003725	double-stranded RNA binding	IBA	molecular function
GO:0003727	single-stranded RNA binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0032728	positive regulation of interferon-beta production	IBA	biological process
GO:2000778	positive regulation of interleukin-6 secretion	IBA	biological process
GO:0008270	zinc ion binding	IBA	molecular function
GO:0009615	response to virus	IBA	biological process
GO:0045087	innate immune response	IBA	biological process
GO:0008270	zinc ion binding	IDA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0039530	MDA-5 signaling pathway	IDA	biological process
GO:0032728	positive regulation of interferon-beta production	IDA	biological process
GO:0016925	protein sumoylation	IDA	biological process
GO:0003727	single-stranded RNA binding	IDA	molecular function
GO:0003725	double-stranded RNA binding	IDA	molecular function
GO:0060760	positive regulation of response to cytokine stimulus	IMP	biological process
GO:0045087	innate immune response	TAS	biological process
GO:0034344	regulation of type III interferon production	TAS	biological process
GO:0009615	response to virus	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:1902741	positive regulation of interferon-alpha secretion	IMP	biological process
GO:0071360	cellular response to exogenous dsRNA	IMP	biological process
GO:0035549	positive regulation of interferon-beta secretion	IMP	biological process
GO:1904469	positive regulation of tumor necrosis factor secretion	IMP	biological process
GO:2000778	positive regulation of interleukin-6 secretion	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043021	ribonucleoprotein complex binding	IPI	molecular function
GO:0039528	cytoplasmic pattern recognition receptor signaling pathway in response to virus	TAS	biological process
GO:0032728	positive regulation of interferon-beta production	IMP	biological process
GO:0032728	positive regulation of interferon-beta production	IMP	biological process
GO:0032727	positive regulation of interferon-alpha production	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0051607	defense response to virus	IEA	biological process
GO:0004386	helicase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0016032	viral process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0003724	RNA helicase activity	IEA	molecular function
GO:0016579	protein deubiquitination	TAS	biological process
GO:0032480	negative regulation of type I interferon production	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0045087	innate immune response	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045087	innate immune response	IEA	biological process
GO:0009615	response to virus	IEA	biological process
GO:0003725	double-stranded RNA binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0009597	detection of virus	TAS	biological process
GO:0032727	positive regulation of interferon-alpha production	TAS	biological process
GO:0032728	positive regulation of interferon-beta production	TAS	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0051607	defense response to virus	IDA	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05168	Herpes simplex virus 1 infection
hsa05164	Influenza A
hsa05161	Hepatitis B
hsa05162	Measles
hsa04622	RIG-I-like receptor signaling pathway

Diseases

Associated diseases	References
Type 1 diabetes mellitus	KEGG:H00408
Aicardi-Goutieres syndrome	KEGG:H00290
Singleton-Merten syndrome	KEGG:H01571
Type 1 diabetes mellitus	KEGG:H00408
Aicardi-Goutieres syndrome	KEGG:H00290
Singleton-Merten syndrome	KEGG:H01571
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881