ADAT3
entrez
113179
canonical
uniprot
Q96EY9
canonical
ensembl
ENSG00000213638
resolver
ensp
ENSP00000332448
resolver
ensp
ENSP00000642932
resolver
genesymbol
ADAT3
resolver
genesymbol_syn
TAD3
resolver
hgnc
HGNC:25151
resolver
uniprot
D6W601
resolver
uniprot
D6W602
resolver
uniprot_entry
ADAT3_HUMAN
resolver
uniprot_sec
D6W601
resolver
uniprot_sec
D6W602
resolver
amino_acid_sequence
MILCSRLCLPQSASLRMEPAPGLVEQPKCLEAGSPEPEPAPWQALPVLSEKQSGDVELVLAYAAPVLDKRQTSRLLKEVSALHPLPAQPHLKRVRPSRDAGSPHALEMLLCLAGPASGPRSLAELLPRPAVDPRGLGQPFLVPVPARPPLTRGQFEEARAHWPTSFHEDKQVTSALAGRLFSTQERAAMQSHMERAVWAARRAAARGLRAVGAVVVDPASDRVLATGHDCSCADNPLLHAVMVCVDLVARGQGRGTYDFRPFPACSFAPAAAPQAVRAGAVRKLDADEDGLPYLCTGYDLYVTREPCAMCAMALVHARILRVFYGAPSPDGALGTRFRIHARPDLNHRFQVFRGVLEEQCRWLDPDT
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies (NEDBGF) [MIM:615286]: An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, and speech delay apparent from infancy or early childhood. Most patients have dysmorphic facial features, and white matter abnormalities on brain imaging. More variable features may include teeth anomalies, distal joint contractures, spasticity, peripheral neuropathy, and behavioral problems. {ECO:0000269|PubMed:23620220, ECO:0000269|PubMed:40120092}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Non-catalytic subunit of the tRNA-specific adenosine-34 deaminase complex, composed of the ADAT2 catalytic subunit and the ADAT3 regulatory subunit, which deaminates adenosine-34 (the first, also called wobble position of the anticodon) to inosine in many tRNAs. Inosine-34 allows the decoding of 3 different nucleotides at the third position of mRNA codons, as inosine is able to pair with U, C, and A. Required for binding of the ADAT2-ADAT3 complex to tRNA through its N-terminus, which rotates with respect to the catalytic domain of the complex, formed by ADAT2 and the ADAT3 C-terminal domain, to position the tRNA anticodon stem-loop correctly in the ADAT2 active site. The ADAT2-ADAT3 complex is required for radial migration of projection neurons in the developing brain cortex, and the catalytic activity of the complex is necessary for this function. {ECO:0000250|UniProtKB:Q6PAT0}.
uniprot
proteins
mass_dalton
39844
uniprot
proteins
protein_family
ADAT3 subfamily
uniprot
proteins
protein_family
Cytidine and deoxycytidylate deaminase family
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23620220
uniprot
proteins
pubmed
25916855
uniprot
proteins
pubmed
40120092
uniprot
proteins
sequence_length
367
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:25916855}. Cytoplasm {ECO:0000269|PubMed:25916855}. Note=The ADAT2-ADAT3 complex shows a diffuse expression pattern in both the cytoplasm and the nucleus. {ECO:0000250|UniProtKB:Q6PAT0}.
uniprot
proteins