Entity Details

Primary name RED1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP78563
EntryNameRED1_HUMAN
FullNameDouble-stranded RNA-specific editase 1
TaxID9606
Evidenceevidence at protein level
Length741
SequenceStatuscomplete
DateCreated1997-11-01
DateModified2021-06-02

Ontological Relatives

GenesADARB1

GO terms

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GOName
GO:0003723 RNA binding
GO:0003725 double-stranded RNA binding
GO:0003726 double-stranded RNA adenosine deaminase activity
GO:0003729 mRNA binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0006382 adenosine to inosine editing
GO:0006396 RNA processing
GO:0006397 mRNA processing
GO:0007274 neuromuscular synaptic transmission
GO:0008251 tRNA-specific adenosine deaminase activity
GO:0008285 negative regulation of cell population proliferation
GO:0016553 base conversion or substitution editing
GO:0021610 facial nerve morphogenesis
GO:0021618 hypoglossal nerve morphogenesis
GO:0021965 spinal cord ventral commissure morphogenesis
GO:0030336 negative regulation of cell migration
GO:0035264 multicellular organism growth
GO:0042802 identical protein binding
GO:0044387 negative regulation of protein kinase activity by regulation of protein phosphorylation
GO:0045070 positive regulation of viral genome replication
GO:0045087 innate immune response
GO:0045202 synapse
GO:0046872 metal ion binding
GO:0050884 neuromuscular process controlling posture
GO:0051607 defense response to virus
GO:0051726 regulation of cell cycle
GO:0060384 innervation
GO:0060415 muscle tissue morphogenesis
GO:0061744 motor behavior
GO:0097049 motor neuron apoptotic process

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR002466 Adenosine deaminase/editaseDomainDomain
IPR008996 Cytokine IL1/FGFFamilyHomologous superfamily
IPR014720 Double-stranded RNA-binding domainDomainDomain
IPR044458 ADAR2, first double-stranded RNA binding domainDomainDomain
IPR044459 ADAR2, second double-stranded RNA binding domainDomainDomain

Diseases

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Disease IDSourceNameDescription
618862 OMIMNeurodevelopmental disorder with hypotonia, microcephaly, and seizures (NEDHYMS)An autosomal recessive neurodevelopmental disorder characterized by global developmental delay with axial hypotonia, inability to sit or walk, impaired intellectual development with absent language, and early-onset intractable seizures in most patients. Additional features include poor overall growth, microcephaly, dysmorphic features, poor eye contact due to cortical blindness, and nonspecific brain abnormalities. The disease is caused by variants affecting the gene represented in this entry.