ENSG00000107201


Homo sapiens

Features
Gene ID: ENSG00000107201
  
Biological name :DDX58
  
Synonyms : DDX58 / DExD/H-box helicase 58 / O95786
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: -1
Band: p21.1
Gene start: 32455705
Gene end: 32526324
  
Corresponding Affymetrix probe sets: 218943_s_at (Human Genome U133 Plus 2.0 Array)   222793_at (Human Genome U133 Plus 2.0 Array)   242961_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000369197
Ensembl peptide - ENSP00000369213
NCBI entrez gene - 23586     See in Manteia.
OMIM - 609631
RefSeq - NM_014314
RefSeq Peptide - NP_055129
swissprot - A2A376
swissprot - O95786
Ensembl - ENSG00000107201
  
Related genetic diseases (OMIM): 616298 - Singleton-Merten syndrome 2, 616298
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 Ddx58ENSMUSG00000040296Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
IFIH1 / Q9BYX4 / interferon induced with helicase C domain 1ENSG0000011526733
DHX58 / Q96C10 / DExH-box helicase 58ENSG0000010877123
FANCM / Q8IYD8 / Fanconi anemia complementation group MENSG0000018779016
DICER1 / Q9UPY3 / dicer 1, ribonuclease IIIENSG0000010069716


Protein motifs (from Interpro)
Interpro ID Name
 IPR001650  Helicase, C-terminal
 IPR011545  DEAD/DEAH box helicase domain
 IPR014001  Helicase superfamily 1/2, ATP-binding domain
 IPR021673  RIG-I-like receptor, C-terminal regulatory domain
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR031964  Caspase recruitment domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002230 positive regulation of defense response to virus by host IMP
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0009597 detection of virus IDA
 biological_processGO:0009615 response to virus IEA
 biological_processGO:0010628 positive regulation of gene expression IDA
 biological_processGO:0016032 viral process IEA
 biological_processGO:0016579 protein deubiquitination TAS
 biological_processGO:0030334 regulation of cell migration IDA
 biological_processGO:0032480 negative regulation of type I interferon production TAS
 biological_processGO:0032725 positive regulation of granulocyte macrophage colony-stimulating factor production IDA
 biological_processGO:0032727 positive regulation of interferon-alpha production IMP
 biological_processGO:0032728 positive regulation of interferon-beta production IEA
 biological_processGO:0032755 positive regulation of interleukin-6 production IDA
 biological_processGO:0032757 positive regulation of interleukin-8 production IDA
 biological_processGO:0034344 regulation of type III interferon production TAS
 biological_processGO:0035549 positive regulation of interferon-beta secretion IMP
 biological_processGO:0039528 cytoplasmic pattern recognition receptor signaling pathway in response to virus TAS
 biological_processGO:0039529 RIG-I signaling pathway IMP
 biological_processGO:0042993 obsolete positive regulation of transcription factor import into nucleus IDA
 biological_processGO:0043330 response to exogenous dsRNA IEA
 biological_processGO:0045087 innate immune response TAS
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IDA
 biological_processGO:0051091 positive regulation of DNA-binding transcription factor activity IC
 biological_processGO:0051607 defense response to virus IEA
 biological_processGO:0060760 positive regulation of response to cytokine stimulus IMP
 biological_processGO:0071360 cellular response to exogenous dsRNA IMP
 biological_processGO:1902741 positive regulation of interferon-alpha secretion IMP
 biological_processGO:1904469 positive regulation of tumor necrosis factor secretion IMP
 biological_processGO:2000778 positive regulation of interleukin-6 secretion IMP
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005923 bicellular tight junction IEA
 cellular_componentGO:0015629 actin cytoskeleton IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0032587 ruffle membrane IEA
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003676 nucleic acid binding IEA
 molecular_functionGO:0003690 double-stranded DNA binding IEA
 molecular_functionGO:0003723 RNA binding IEA
 molecular_functionGO:0003725 double-stranded RNA binding IEA
 molecular_functionGO:0003727 single-stranded RNA binding IMP
 molecular_functionGO:0004386 helicase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0008270 zinc ion binding IDA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0031625 ubiquitin protein ligase binding IPI
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
ISG15 antiviral mechanism
DDX58/IFIH1-mediated induction of interferon-alpha/beta
Ub-specific processing proteases
Ovarian tumor domain proteases
TRAF3-dependent IRF activation pathway
TRAF6 mediated IRF7 activation
TRAF6 mediated NF-kB activation
NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
Negative regulators of DDX58/IFIH1 signaling


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000501 Glaucoma "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:curators]
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 HP:0000962 Hyperkeratosis "Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum." [HPO:curators]
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 HP:0001650 Aortic stenosis "The presence of a stenosis (narrowing) of the aortic valve." [HPO:curators]
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000068308 OTUD5 / Q96G74 / OTU deubiquitinase 5  / reaction
 ENSG00000127191 TRAF2 / Q12933 / TNF receptor associated factor 2  / complex / reaction
 ENSG00000135114 OASL / Q15646 / 2-5-oligoadenylate synthetase like  / complex / reaction
 ENSG00000064012 CASP8 / Q14790 / caspase 8  / complex / reaction
 ENSG00000136560 TANK / Q92844 / TRAF family member associated NFKB activator  / complex / reaction
 ENSG00000140853 NLRC5 / Q86WI3 / NLR family CARD domain containing 5  / reaction / complex
 ENSG00000003400 CASP10 / Q92851 / caspase 10  / complex / reaction
 ENSG00000143258 USP21 / Q9UK80 / ubiquitin specific peptidase 21  / complex
 ENSG00000183735 TBK1 / Q9UHD2 / TANK binding kinase 1  / complex / reaction
 ENSG00000223443 Q6R6M4 / USP17L2 / ubiquitin specific peptidase 17-like family member 2  / complex
 ENSG00000185507 IRF7 / Q92985 / interferon regulatory factor 7  / reaction / complex
 ENSG00000197111 PCBP2 / Q15366 / poly(rC) binding protein 2  / complex / reaction
 ENSG00000175104 TRAF6 / Q9Y4K3 / TNF receptor associated factor 6  / complex / reaction
 ENSG00000145782 ATG12 / O94817 / autophagy related 12  / complex / reaction
 ENSG00000168040 FADD / Q13158 / Fas associated via death domain  / complex / reaction
 ENSG00000182179 UBA7 / P41226 / ubiquitin like modifier activating enzyme 7  / reaction / complex
 ENSG00000156587 O14933 / UBE2L6 / ubiquitin conjugating enzyme E2 L6  / reaction / complex
 ENSG00000121060 Q14258 / TRIM25 / tripartite motif containing 25  / complex / reaction
 ENSG00000107201 DDX58 / O95786 / DExD/H-box helicase 58  / complex / reaction
 ENSG00000131323 TRAF3 / Q13114 / TNF receptor associated factor 3  / complex / reaction
 ENSG00000104365 IKBKB / O14920 / inhibitor of nuclear factor kappa B kinase subunit beta  / complex / reaction
 ENSG00000181481 Q8IUD6 / RNF135 / ring finger protein 135  / complex / reaction
 ENSG00000057663 ATG5 / Q9H1Y0 / autophagy related 5  / reaction / complex
 ENSG00000263528 IKBKE / Q14164 / inhibitor of nuclear factor kappa B kinase subunit epsilon  / reaction / complex
 ENSG00000126456 IRF3 / Q14653 / interferon regulatory factor 3  / reaction / complex
 ENSG00000155313 USP25 / Q9UHP3 / ubiquitin specific peptidase 25  / complex
 ENSG00000187608 ISG15 / P05161 / ISG15 ubiquitin-like modifier  / reaction / complex
 ENSG00000088888 MAVS / Q7Z434 / mitochondrial antiviral signaling protein  / reaction / complex
 ENSG00000213341 CHUK / O15111 / conserved helix-loop-helix ubiquitous kinase  / complex / reaction
 ENSG00000078747 ITCH / Q96J02 / itchy E3 ubiquitin protein ligase  / complex / reaction
 ENSG00000138646 HERC5 / Q9UII4 / HECT and RLD domain containing E3 ubiquitin protein ligase 5  / complex / reaction
 ENSG00000052723 SIKE1 / Q9BRV8 / suppressor of IKBKE 1  / reaction
 ENSG00000137275 RIPK1 / Q13546 / receptor interacting serine/threonine kinase 1  / complex / reaction
 ENSG00000269335 IKBKG / Q9Y6K9 / inhibitor of nuclear factor kappa B kinase subunit gamma  / complex / reaction
 ENSG00000095015 MAP3K1 / Q13233 / mitogen-activated protein kinase kinase kinase 1  / reaction / complex






 

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