ADARB1
entrez
104
canonical
uniprot
P78563
canonical
ensembl
ENSG00000197381
resolver
ensp
ENSP00000015877
resolver
ensp
ENSP00000353920
resolver
ensp
ENSP00000374513
resolver
ensp
ENSP00000387480
resolver
ensp
ENSP00000516122
resolver
ensp
ENSP00000516123
resolver
ensp
ENSP00000715944
resolver
enst
ENST00000705392
resolver
enst
ENST00000705393
resolver
genesymbol
ADARB1
resolver
genesymbol_syn
ADAR2
resolver
genesymbol_syn
DRADA2
resolver
genesymbol_syn
RED1
resolver
hgnc
HGNC:226
resolver
uniprot
A0A994J4V7
resolver
uniprot
A0A994J7T5
resolver
uniprot
A6NFK8
resolver
uniprot
A6NJ84
resolver
uniprot
C3TTQ1
resolver
uniprot
C3TTQ2
resolver
uniprot
C9JUP4
resolver
uniprot
G5E9B4
resolver
uniprot
O00395
resolver
uniprot
O00465
resolver
uniprot
O00691
resolver
uniprot
O00692
resolver
uniprot
P78555
resolver
uniprot
Q4AE77
resolver
uniprot
Q4AE79
resolver
uniprot
Q6P0M9
resolver
uniprot
Q8NFA1
resolver
uniprot
Q8NFD1
resolver
uniprot_entry
A0A994J4V7_HUMAN
resolver
uniprot_entry
A0A994J7T5_HUMAN
resolver
uniprot_entry
RED1_HUMAN
resolver
uniprot_sec
A6NFK8
resolver
uniprot_sec
A6NJ84
resolver
uniprot_sec
C3TTQ1
resolver
uniprot_sec
C3TTQ2
resolver
uniprot_sec
C9JUP4
resolver
uniprot_sec
G5E9B4
resolver
uniprot_sec
O00395
resolver
uniprot_sec
O00465
resolver
uniprot_sec
O00691
resolver
uniprot_sec
O00692
resolver
uniprot_sec
P78555
resolver
uniprot_sec
Q4AE77
resolver
uniprot_sec
Q4AE79
resolver
uniprot_sec
Q6P0M9
resolver
uniprot_sec
Q8NFA1
resolver
uniprot_sec
Q8NFD1
resolver
amino_acid_sequence
MDIEDEENMSSSSTDVKENRNLDNVSPKDGSTPGPGEGSQLSNGGGGGPGRKRPLEEGSNGHSKYRLKKRRKTPGPVLPKNALMQLNEIKPGLQYTLLSQTGPVHAPLFVMSVEVNGQVFEGSGPTKKKAKLHAAEKALRSFVQFPNASEAHLAMGRTLSVNTDFTSDQADFPDTLFNGFETPDKAEPPFYVGSNGDDSFSSSGDLSLSASPVPASLAQPPLPVLPPFPPPSGKNPVMILNELRPGLKYDFLSESGESHAKSFVMSVVVDGQFFEGSGRNKKLAKARAAQSALAAIFNLHLDQTPSRQPIPSEGLQLHLPQVLADAVSRLVLGKFGDLTDNFSSPHARRKVLAGVVMTTGTDVKDAKVISVSTGTKCINGEYMSDRGLALNDCHAEIISRRSLLRFLYTQLELYLNNKDDQKRSIFQKSERGGFRLKENVQFHLYISTSPCGDARIFSPHEPILEGSRSYTQAGVQWCNHGSLQPRPPGLLSDPSTSTFQGAGTTEPADRHPNRKARGQLRTKIESGEGTIPVRSNASIQTWDGVLQGERLLTMSCSDKIARWNVVGIQGSLLSIFVEPIYFSSIILGSLYHGDHLSRAMYQRISNIEDLPPLYTLNKPLLSGISNAEARQPGKAPNFSVNWTVGDSAIEVINATTGKDELGRASRLCKHALYCRWMRVHGKVPSHLLRSKITKPNVYHESKLAAKEYQAAKARLFTAFIKAGLGAWVEKPTEQDQFSLTP
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures (NEDHYMS) [MIM:618862]: 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 non-specific brain abnormalities. {ECO:0000269|PubMed:32220291}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.5.4.37
uniprot
proteins
function
FUNCTION: 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. {ECO:0000269|PubMed:18178553, ECO:0000269|PubMed:19908260, ECO:0000269|PubMed:21289159}.; FUNCTION: [Isoform 1]: Has a lower catalytic activity than isoform 2. {ECO:0000269|PubMed:9149227}.; FUNCTION: [Isoform 2]: Has a higher catalytic activity than isoform 1. {ECO:0000269|PubMed:9149227}.
uniprot
proteins
mass_dalton
80763
uniprot
proteins
pubmed
10830953
uniprot
proteins
pubmed
12459255
uniprot
proteins
pubmed
14759258
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16141067
uniprot
proteins
pubmed
16297572
uniprot
proteins
pubmed
18178553
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19156214
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
19908260
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20192758
uniprot
proteins
pubmed
21182352
uniprot
proteins
pubmed
21211811
uniprot
proteins
pubmed
21289159
uniprot
proteins
pubmed
21769729
uniprot
proteins
pubmed
22022963
uniprot
proteins
pubmed
22113393
uniprot
proteins
pubmed
22988838
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
32220291
uniprot
proteins
pubmed
9111310
uniprot
proteins
pubmed
9143496
uniprot
proteins
pubmed
9149227
uniprot
proteins
pubmed
9330641
uniprot
proteins
sequence_length
741
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:32220291}. Nucleus, nucleolus {ECO:0000269|PubMed:32220291}. Note=Shuttles between nucleoli and the nucleoplasm. {ECO:0000305|PubMed:32220291}.; SUBCELLULAR LOCATION: [Isoform 1]: Nucleus {ECO:0000269|PubMed:32220291}. Nucleus, nucleolus {ECO:0000269|PubMed:32220291}.; SUBCELLULAR LOCATION: [Isoform 2]: Nucleus {ECO:0000269|PubMed:32220291}. Nucleus, nucleolus {ECO:0000269|PubMed:32220291}.
uniprot
proteins