Entity Details

Primary name DSRAD_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP55265
EntryNameDSRAD_HUMAN
FullNameDouble-stranded RNA-specific adenosine deaminase
TaxID9606
Evidenceevidence at protein level
Length1226
SequenceStatuscomplete
DateCreated1996-10-01
DateModified2021-06-02

Ontological Relatives

GenesADAR

GO terms

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GOName
GO:0001649 osteoblast differentiation
GO:0002244 hematopoietic progenitor cell differentiation
GO:0002566 somatic diversification of immune receptors via somatic mutation
GO:0003677 DNA binding
GO:0003723 RNA binding
GO:0003725 double-stranded RNA binding
GO:0003726 double-stranded RNA adenosine deaminase activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0006382 adenosine to inosine editing
GO:0006396 RNA processing
GO:0006397 mRNA processing
GO:0006606 protein import into nucleus
GO:0006611 protein export from nucleus
GO:0008251 tRNA-specific adenosine deaminase activity
GO:0009615 response to virus
GO:0016020 membrane
GO:0016553 base conversion or substitution editing
GO:0030218 erythrocyte differentiation
GO:0031054 pre-miRNA processing
GO:0035280 miRNA loading onto RISC involved in gene silencing by miRNA
GO:0035455 response to interferon-alpha
GO:0043066 negative regulation of apoptotic process
GO:0044387 negative regulation of protein kinase activity by regulation of protein phosphorylation
GO:0044530 supraspliceosomal complex
GO:0045070 positive regulation of viral genome replication
GO:0045087 innate immune response
GO:0046872 metal ion binding
GO:0051607 defense response to virus
GO:0060216 definitive hemopoiesis
GO:0060337 type I interferon signaling pathway
GO:0060339 negative regulation of type I interferon-mediated signaling pathway
GO:0061484 hematopoietic stem cell homeostasis
GO:0098586 cellular response to virus
GO:1900369 negative regulation of RNA interference

Subcellular Location

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Subcellular Location
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR002466 Adenosine deaminase/editaseDomainDomain
IPR014720 Double-stranded RNA-binding domainDomainDomain
IPR036388 Winged helix-like DNA-binding domain superfamilyFamilyHomologous superfamily
IPR036390 Winged helix DNA-binding domain superfamilyFamilyHomologous superfamily
IPR042371 Z-binding domainDomainDomain
IPR044456 ADAR1, first double-stranded RNA binding domainDomainDomain
IPR044457 ADAR1, third double-stranded RNA binding domainDomainDomain

Diseases

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Disease IDSourceNameDescription
615010 OMIMAicardi-Goutieres syndrome 6 (AGS6)A 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. The disease is caused by variants affecting the gene represented in this entry.
127400 OMIMDyschromatosis symmetrica hereditaria (DSH)An autosomal dominant pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the face and the dorsal parts of the hands and feet, that appear in infancy or early childhood. The disease is caused by variants affecting the gene represented in this entry.