DALRD3
entrez
55152
canonical
uniprot
Q5D0E6
canonical
ensembl
ENSG00000178149
resolver
ensp
ENSP00000323265
resolver
ensp
ENSP00000344989
resolver
ensp
ENSP00000403770
resolver
ensp
ENSP00000410623
resolver
ensp
ENSP00000586304
resolver
ensp
ENSP00000663764
resolver
ensp
ENSP00000694855
resolver
genesymbol
DALRD3
resolver
hgnc
HGNC:25536
resolver
uniprot
Q7Z5S7
resolver
uniprot
Q86WY1
resolver
uniprot
Q8N105
resolver
uniprot
Q8NA89
resolver
uniprot
Q9NVU8
resolver
uniprot_entry
DALD3_HUMAN
resolver
uniprot_sec
Q7Z5S7
resolver
uniprot_sec
Q86WY1
resolver
uniprot_sec
Q8N105
resolver
uniprot_sec
Q8NA89
resolver
uniprot_sec
Q9NVU8
resolver
amino_acid_sequence
MATRRLGVGETLGALNAALGPGGPVWIKETRTRHLRSRDFLAPHRALQARFDDGQVPEHLLHALACLQGPGVAPVLRCAPTPAGLSLQLQRSAVFERVLSAVAAYATPASPASLGQRVLLHCPALRSSPCALRLSQLRTVLVADHLARALRAHGVCVRLVPAVRDPHMLTFLQQLRVDWPAASERASSHTLRSHALEELTSANDGRTLSPGILGRLCLKELVEEQGRTAGYDPNLDNCLVTEDLLSVLAELQEALWHWPEDSHPGLAGASDTGTGGCLVVHVVSCEEEFQQQKLDLLWQKLVDKAPLRQKHLICGPVKVAGAPGTLMTAPEYYEFRHTQVCKASALKHGGDLAQDPAWTEIFGVLSVATIKFEMLSTAPQSQLFLALADSSISTKGTKSGTFVMYNCARLATLFESYKCSMEQGLYPTFPPVSSLDFSLLHDEGEWLLLFNSILPFPDLLSRTAVLDCTAPGLHIAVRTEMICKFLVQLSMDFSSYYNRVHILGEPRPHLFGQMFVRLQLLRAVREVLHTGLAMLGLPPLSHI
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 86 (DEE86) [MIM:618910]: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE86 inheritance is autosomal recessive. {ECO:0000269|PubMed:32427860, ECO:0000269|PubMed:39482881}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in tRNA methylation. Facilitates the recognition and targeting of tRNA(Arg)(CCU) and tRNA(Arg)(UCU) substrates for N(3)-methylcytidine modification by METTL2A and METTL2B. {ECO:0000269|PubMed:32427860, ECO:0000269|PubMed:39482881}.
uniprot
proteins
mass_dalton
59363
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
32427860
uniprot
proteins
pubmed
39482881
uniprot
proteins
sequence_length
543
uniprot
proteins