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Basic Information Integrated Annotations

Tag Content
UUCD2 ID IUUC-Hsa-045771
Ensembl Protein ID ENSP00000263642.2
UniProt Accession Q9BYX4; Q2NKL6; Q6DC96; Q86X56; Q96MX8; Q9H3G6; IFIH1_HUMAN
Genbank Protein ID AAG34368.1; AAG54076.1; AAH46208.1; AAH78180.1; AAI11751.1; BAB71141.1
Protein Name Interferon-induced helicase C domain-containing protein 1; Clinically amyopathic dermatomyositis autoantigen 140 kDa; Helicase with 2 CARD domains; Interferon-induced with helicase C domain protein 1; Melanoma differentiation-associated protein 5; Murabutide down-regulated protein; RIG-I-like receptor 2; RNA helicase-DEAD box protein 116
Genbank Nucleotide ID AF095844; AY017378; BC046208; BC078180; BC111750; AK056293
Gene Name IFIH1; MDA5; RH116
Ensembl Information
Ensembl Gene ID Ensembl Transcript ID Ensembl Protein ID
ENSG00000115267.5 ENST00000263642.2 ENSP00000263642.2
ENSG00000115267.5 ENST00000421365.2 ENSP00000408450.2
Annotation
Cancer Mutation
TCGAICGCCOSMICCGAP
IntOGen
Single Nucleotide Polymorphisms (SNP)
dbSNP
mRNA Expression
GEOArrayExpressTCGAICGC
COSMICTHPAHPM
DNA & RNA Element
UTRdbAREsitecircBasecircRNADb
CircNetmiRTarBasemicroRNATRANSFAC
miRWalkTargetScanRepTarmiRNAMap
SomamiRmiRcodeRAID2
Protein-protein Interaction
IIDiRefIndexPINAHINT
MenthaInWeb_IM
Protein 3D Structure
PDBMMDB
Disease-associated Information
ClinVarGWASdbGWAS CentralOMIM
Post-translational Modifications (PTMs)
CPLMdbPAFPhosphositePlusdbPTM
HPRDUniProtPHOSIDABioGRID
mUbiSiDa
DNA Methylation
TCGAICGCCOSMIC
Protein Expression/Proteomics
THPAHPMGPMDB
Status Reviewed
Details
Family Domain References (PMIDs)
UBD/CARD CARD 22705106
Classification
Family E-value Score Start End
UBD/CARD 1.50e-56 190.5 7 80
Active Site
Position(s) Description Evidence
N/A N/A N/A
Domain Profile

   UBD/CARD

   S: 1    tdeeyrlllstlqdrvrklLdvtdvldkylseflleeekelilaaaetkgnmqaaelLLktL...vqkegWfrefl 73
    tde++r+l+s++++rv+++++v++vld yl+ fl++e+ke+i+++++t+gnmqa+elLL+tL v+++gW+ref+
   Q: 7 TDENFRYLISCFRARVKMYIQVEPVLD-YLT-FLPAEVKEQIQRTVATSGNMQAVELLLSTLekgVWHLGWTREFV 80
    69*************************.***.*******************************************6 PP
   

Organism Homo sapiens
Functional Description
(View)

Functional Description



     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.
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.
Protein Sequence
(Fasta)
MSNGYSTDEN FRYLISCFRA RVKMYIQVEP VLDYLTFLPA EVKEQIQRTV ATSGNMQAVE 60
LLLSTLEKGV WHLGWTREFV EALRRTGSPL AARYMNPELT DLPSPSFENA HDEYLQLLNL 120
It may take some time, please wait.

Protein Fasta Sequence



>IUUC-Hsa-045771|UBD,CARD|Homo sapiens
Please wait for a moment...
Nucleotide Sequence
(Fasta)
AACAGAAACC AAAGTCAGGC AAACTCTGTA AGAACTGCCT GACAGAAAGC TGGACTCAAA 60
GCTCCTACCC GAGTGTGCAG CAGGATCGCC CCGGTCCGGG ACCCCAGGCG CACACCGCAG 120
It may take some time, please wait.

Nucleotide Fasta Sequence



>IUUC-Hsa-045771|UBD,CARD|Homo sapiens
Please wait for a moment...
Sequence Source Ensembl
Keyword

KW-0002--3D-structure
KW-0948--Aicardi-Goutieres syndrome
KW-0025--Alternative splicing
KW-0051--Antiviral defense
KW-0067--ATP-binding
KW-0181--Complete proteome
KW-0963--Cytoplasm
KW-0219--Diabetes mellitus
KW-0225--Disease mutation
KW-0347--Helicase
KW-0945--Host-virus interaction
KW-0378--Hydrolase
KW-0391--Immunity
KW-0399--Innate immunity
KW-0479--Metal-binding
KW-0547--Nucleotide-binding
KW-0539--Nucleus
KW-0597--Phosphoprotein
KW-0621--Polymorphism
KW-1185--Reference proteome
KW-0677--Repeat
KW-0694--RNA-binding
KW-0832--Ubl conjugation
KW-0862--Zinc

Interpro

IPR031964--CARD_dom
IPR011029--DEATH-like_dom
IPR006935--Helicase/UvrB_N
IPR014001--Helicase_ATP-bd
IPR001650--Helicase_C
IPR027417--P-loop_NTPase
IPR021673--RLR_CTR

PROSITE

PS51192--HELICASE_ATP_BIND_1
PS51194--HELICASE_CTER
PS51789--RLR_CTR

Pfam

PF16739--CARD_2
PF00271--Helicase_C
PF04851--ResIII
PF11648--RIG-I_C-RD

SMART

SM00487--DEXDc
SM00490--HELICc

Gene Ontology

GO:0005829--C:cytosol
GO:0005634--C:nucleus
GO:0005524--F:ATP binding
GO:0003677--F:DNA binding
GO:0003725--F:double-stranded RNA binding
GO:0004386--F:helicase activity
GO:0043021--F:ribonucleoprotein complex binding
GO:0003727--F:single-stranded RNA binding
GO:0008270--F:zinc ion binding
GO:0039528--P:cytoplasmic pattern recognition receptor signaling pathway in response to virus
GO:0009597--P:detection of virus
GO:0045087--P:innate immune response
GO:0039530--P:MDA-5 signaling pathway
GO:0032480--P:negative regulation of type I interferon production
GO:0032727--P:positive regulation of interferon-alpha production
GO:0032728--P:positive regulation of interferon-beta production
GO:0016579--P:protein deubiquitination
GO:0016925--P:protein sumoylation
GO:0034344--P:regulation of type III interferon production
GO:0009615--P:response to virus

KEGG hsa:64135
Orthology
iUUCD ID Species Identity E-value Score
IUUC-Aml-001336 Ailuropoda melanoleuca 84.14 0.00e+00 1620.00
IUUC-Apl-003900 Anas platyrhynchos 61.44 0.00e+00 1195.00
IUUC-Aca-005329 Anolis carolinensis 58.99 0.00e+00 1021.00
IUUC-Ame-011305 Astyanax mexicanus 47.92 0.00e+00 874.00
IUUC-Bta-012361 Bos taurus 83.32 0.00e+00 1571.00
IUUC-Cja-018760 Callithrix jacchus 92.78 0.00e+00 1740.00
IUUC-Cfa-020321 Canis familiaris 82.70 0.00e+00 1560.00
IUUC-Cpo-022450 Cavia porcellus 80.53 0.00e+00 1579.00
IUUC-Cre-022916 Chlamydomonas reinhardtii 33.33 2.00e-12 68.60
IUUC-Csa-024194 Chlorocebus sabaeus 98.24 0.00e+00 1799.00
IUUC-Cho-024364 Choloepus hoffmanni 76.56 0.00e+00 1045.00
IUUC-Dre-028305 Danio rerio 54.31 0.00e+00 710.00
IUUC-Dno-029831 Dasypus novemcinctus 86.93 0.00e+00 1671.00
IUUC-Dor-030410 Dipodomys ordii 77.86 0.00e+00 1250.00
IUUC-Ete-032950 Echinops telfairi 74.77 0.00e+00 643.00
IUUC-Eca-034279 Equus caballus 87.62 0.00e+00 1654.00
IUUC-Eeu-034678 Erinaceus europaeus 80.31 0.00e+00 1567.00
IUUC-Fca-035618 Felis catus 87.52 0.00e+00 977.00
IUUC-Fal-037106 Ficedula albicollis 68.98 0.00e+00 979.00
IUUC-Gmo-038598 Gadus morhua 49.37 0.00e+00 672.00
IUUC-Gga-040467 Gallus gallus 60.92 0.00e+00 1170.00
IUUC-Gac-042316 Gasterosteus aculeatus 47.41 0.00e+00 830.00
IUUC-Ggo-045461 Gorilla gorilla 99.41 0.00e+00 1826.00
IUUC-Itr-048762 Ictidomys tridecemlineatus 85.95 0.00e+00 1617.00
IUUC-Lch-049913 Latimeria chalumnae 65.99 0.00e+00 926.00
IUUC-Loc-052768 Lepisosteus oculatus 53.38 0.00e+00 979.00
IUUC-Laf-053933 Loxodonta africana 84.44 0.00e+00 1603.00
IUUC-Mcc-054695 Macaca mulatta 98.44 0.00e+00 1805.00
IUUC-Meu-056829 Macropus eugenii 73.77 0.00e+00 1116.00
IUUC-Mga-059205 Meleagris gallopavo 61.63 0.00e+00 1170.00
IUUC-Mmr-060703 Microcebus murinus 88.52 0.00e+00 1636.00
IUUC-Mdo-063079 Monodelphis domestica 71.53 0.00e+00 1431.00
IUUC-Mmu-064066 Mus musculus 79.53 0.00e+00 1617.00
IUUC-Mpu-066261 Mustela putorius furo 83.72 0.00e+00 1577.00
IUUC-Mlu-068196 Myotis lucifugus 82.85 0.00e+00 1556.00
IUUC-Nle-069479 Nomascus leucogenys 93.85 0.00e+00 1724.00
IUUC-Opr-070717 Ochotona princeps 76.17 0.00e+00 1163.00
IUUC-Ont-071702 Oreochromis niloticus 47.31 0.00e+00 845.00
IUUC-Oan-073639 Ornithorhynchus anatinus 66.74 0.00e+00 1204.00
IUUC-Ocu-074521 Oryctolagus cuniculus 86.05 0.00e+00 1667.00
IUUC-Ola-086351 Oryzias latipes 46.37 0.00e+00 818.00
IUUC-Oga-088539 Otolemur garnettii 85.27 0.00e+00 1600.00
IUUC-Oar-090186 Ovis aries 83.32 0.00e+00 1558.00
IUUC-Ptr-090575 Pan troglodytes 94.83 0.00e+00 1743.00
IUUC-Pan-092371 Papio anubis 98.15 0.00e+00 1801.00
IUUC-Psi-093072 Pelodiscus sinensis 64.17 0.00e+00 1251.00
IUUC-Pma-094345 Petromyzon marinus 43.58 4.00e-95 341.00
IUUC-Pfo-096401 Poecilia formosa 51.67 0.00e+00 671.00
IUUC-Pab-097623 Pongo abelii 96.98 0.00e+00 1822.00
IUUC-Pca-100993 Procavia capensis 78.50 0.00e+00 1311.00
IUUC-Pva-102227 Pteropus vampyrus 79.92 0.00e+00 1478.00
IUUC-Rno-105198 Rattus norvegicus 79.45 0.00e+00 1610.00
IUUC-Sha-107622 Sarcophilus harrisii 72.99 0.00e+00 1418.00
IUUC-Sar-113625 Sorex araneus 70.58 0.00e+00 742.00
IUUC-Tgu-117486 Taeniopygia guttata 60.23 0.00e+00 1129.00
IUUC-Tru-118445 Takifugu rubripes 44.86 0.00e+00 806.00
IUUC-Tsy-119512 Tarsius syrichta 87.12 0.00e+00 1581.00
IUUC-Tni-120711 Tetraodon nigroviridis 45.28 0.00e+00 843.00
IUUC-Tbe-127644 Tupaia belangeri 75.71 0.00e+00 1394.00
IUUC-Ttr-128989 Tursiops truncatus 79.80 0.00e+00 1566.00
IUUC-Vpa-130587 Vicugna pacos 79.52 0.00e+00 1254.00
IUUC-Xtr-132127 Xenopus tropicalis 54.06 0.00e+00 1028.00
Created Date 25-Jun-2017

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