ADARB1 , (Kr.21q22.3) dsRNAspesifinen editaasi1 omaa tärkeän tehtävän

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Perustavaa tietoa ADARB1 entsyymistä, joka on dsRNAeditaasi1.

Aliases for ADARB1 Gene

• GeneCards Symbol: ADARB1 ²
• Adenosine Deaminase RNA Specific B1 ^{2 3 5}
• DRADA2 ^{2 3 4 5}
• ADAR2 ^{2 3 4 5}
• RED1 ^{2 3 4 5}
• DRABA2 ^{2 3 5}
• Adenosine Deaminase, RNA-Specific, B1 (Homolog Of Rat RED1) ^{2 3}
• Double-Stranded RNA-Specific Editase 1 ^{3 4}
• RNA-Editing Enzyme 1 ^{3 4}
• ADAR2a-L1 ^{2 5}
• ADAR2a-L2 ^{2 5}
• ADAR2a-L3 ^{2 5}
• ADAR2g ^{2 5}

• ADAR2a ^{2 5}
• ADAR2b ^{2 5}
• ADAR2c ^{2 5}
• ADAR2d ^{2 5}
• HRED1 ^{2 5}
• DsRNA Adenosine Deaminase DRADA2 ³
• DsRNA Adenosine Deaminase ⁴
• RNA Editing Deaminase 1 ³
• RNA-Editing Deaminase 1 ⁴
• RED1 Homolog (Rat) ²
• EC 3.5.4.37 ⁴
• NEDHYMS ³

Recommended name: Double-stranded RNA-specific editase 1

Entrez Gene Summary for ADARB1 Gene

This gene encodes the enzyme responsible for pre-mRNA editing of the glutamate receptor subunit B by site-specific deamination of adenosines. Studies in rat found that this enzyme acted on its own pre-mRNA molecules to convert an AA dinucleotide to an AI dinucleotide which resulted in a new splice site. Alternative splicing of this gene results in several transcript variants, some of which have been characterized by the presence or absence of an ALU cassette insert and a short or long C-terminal region. [provided by RefSeq, Jul 2008]

GeneCards Summary for ADARB1 Gene. ADARB1 (Adenosine Deaminase RNA Specific B1) is a Protein Coding gene. Diseases associated with ADARB1 include Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures and Dyschromatosis Symmetrica Hereditaria. Among its related pathways are Formation of editosomes by ADAR proteins and mRNA Editing: C to U Conversion. Gene Ontology (GO) annotations related to this gene include RNA binding and mRNA binding. An important paralog of this gene is ADARB2.

UniProtKB/Swiss-Prot Summary for ADARB1 Gene

Catalyzes the hydrolytic deamination of adenosine to inosine in double-stranded RNA (dsRNA) referred to as A-to-I RNA editing. This may affect gene expression and function in a number of ways that include mRNA translation by changing codons and hence the amino acid sequence of proteins; pre-mRNA splicing by altering splice site recognition sequences; RNA stability by changing sequences involved in nuclease recognition; genetic stability in the case of RNA virus genomes by changing sequences during viral RNA replication; and RNA structure-dependent activities such as microRNA production or targeting or protein-RNA interactions. Can edit both viral and cellular RNAs and can edit RNAs at multiple sites (hyper-editing) or at specific sites (site-specific editing). Its cellular RNA substrates include: bladder cancer-associated protein (BLCAP), neurotransmitter receptors for glutamate (GRIA2 and GRIK2) and serotonin (HTR2C), GABA receptor (GABRA3) and potassium voltage-gated channel (KCNA1). Site-specific RNA editing of transcripts encoding these proteins results in amino acid substitutions which consequently alter their functional activities. Edits GRIA2 at both the Q/R and R/G sites efficiently but converts the adenosine in hotspot1 much less efficiently. Can exert a proviral effect towards human immunodeficiency virus type 1 (HIV-1) and enhances its replication via both an editing-dependent and editing-independent mechanism. The former involves editing of adenosines in the 5'UTR while the latter occurs via suppression of EIF2AK2/PKR activation and function. Can inhibit cell proliferation and migration and can stimulate exocytosis. ( RED1_HUMAN,P78563 )

[Isoform 1]: Has a lower catalytic activity than isoform 2. ( RED1_HUMAN,P78563 )

[Isoform 2]: Has a higher catalytic activity than isoform 1. ( RED1_HUMAN,P78563 )

https://www.genecards.org/cgi-bin/carddisp.pl?gene=ADARB1&keywords=ADAR

 Isoform 5:P78563-5 Likely expressed from an alternative promoter. Contains a region highly similar to the so-called ssRNA-binding R-domain of ADARB2.