ALKBH8
entrez
91801
canonical
uniprot
Q96BT7
canonical
ensembl
ENSG00000137760
resolver
ensp
ENSP00000397673
resolver
ensp
ENSP00000415885
resolver
ensp
ENSP00000568366
resolver
ensp
ENSP00000672292
resolver
genesymbol
ALKBH8
resolver
genesymbol_syn
ABH8
resolver
hgnc
HGNC:25189
resolver
uniprot
B1Q2M0
resolver
uniprot
B4DEF6
resolver
uniprot
Q8N989
resolver
uniprot_entry
ALKB8_HUMAN
resolver
uniprot_sec
B1Q2M0
resolver
uniprot_sec
B4DEF6
resolver
uniprot_sec
Q8N989
resolver
amino_acid_sequence
MDSNHQSNYKLSKTEKKFLRKQIKAKHTLLRHEGIETVSYATQSLVVANGGLGNGVSRNQLLPVLEKCGLVDALLMPPNKPYSFARYRTTEESKRAYVTLNGKEVVDDLGQKITLYLNFVEKVQWKELRPQALPPGLMVVEEIISSEEEKMLLESVDWTEDTDNQNSQKSLKHRRVKHFGYEFHYENNNVDKDKPLSGGLPDICESFLEKWLRKGYIKHKPDQMTINQYEPGQGIPAHIDTHSAFEDEIVSLSLGSEIVMDFKHPDGIAVPVMLPRRSLLVMTGESRYLWTHGITCRKFDTVQASESLKSGIITSDVGDLTLSKRGLRTSFTFRKVRQTPCNCSYPLVCDSQRKETPPSFPESDKEASRLEQEYVHQVYEEIAGHFSSTRHTPWPHIVEFLKALPSGSIVADIGCGNGKYLGINKELYMIGCDRSQNLVDICRERQFQAFVCDALAVPVRSGSCDACISIAVIHHFATAERRVAALQEIVRLLRPGGKALIYVWAMEQEYNKQKSKYLRGNRNSQGKKEEMNSDTSVQRSLVEQMRDMGSRDSASSVPRINDSQEGGCNSRQVSNSKLPVHVNRTSFYSQDVLVPWHLKGNPDKGKPVEPFGPIGSQDPSPVFHRYYHVFREGELEGACRTVSDVRILQSYYDQGNWCVILQKA
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal recessive 71 (MRT71) [MIM:618504]: A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT71 features include impaired intellectual development, global developmental delay, mildly delayed walking, poor language, seizures in the first years of life, and behavioral abnormalities. {ECO:0000269|PubMed:31079898}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.1.1.229
uniprot
proteins
function
FUNCTION: Catalyzes the methylation of 5-carboxymethyl uridine to 5-methylcarboxymethyl uridine at the wobble position of the anticodon loop in tRNA via its methyltransferase domain (PubMed:20123966, PubMed:20308323, PubMed:31079898). Catalyzes the last step in the formation of 5-methylcarboxymethyl uridine at the wobble position of the anticodon loop in target tRNA (PubMed:20123966, PubMed:20308323). Has a preference for tRNA(Arg) and tRNA(Glu), and does not bind tRNA(Lys) (PubMed:20308323). Binds tRNA and catalyzes the iron and alpha-ketoglutarate dependent hydroxylation of 5-methylcarboxymethyl uridine at the wobble position of the anticodon loop in tRNA via its dioxygenase domain, giving rise to 5-(S)-methoxycarbonylhydroxymethyluridine; has a preference for tRNA(Gly) (PubMed:21285950). Required for normal survival after DNA damage (PubMed:20308323). May inhibit apoptosis and promote cell survival and angiogenesis (PubMed:19293182). {ECO:0000269|PubMed:19293182, ECO:0000269|PubMed:20123966, ECO:0000269|PubMed:20308323, ECO:0000269|PubMed:21285950, ECO:0000269|PubMed:31079898}.
uniprot
proteins
mass_dalton
75208
uniprot
proteins
protein_family
AlkB family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
17979886
uniprot
proteins
pubmed
19293182
uniprot
proteins
pubmed
20123966
uniprot
proteins
pubmed
20308323
uniprot
proteins
pubmed
21285950
uniprot
proteins
pubmed
22065580
uniprot
proteins
pubmed
31079898
uniprot
proteins
pubmed
34948388
uniprot
proteins
sequence_length
664
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17979886, ECO:0000269|PubMed:20308323, ECO:0000269|PubMed:34948388}. Nucleus {ECO:0000269|PubMed:20308323}. Note=Predominantly cytoplasmic. {ECO:0000269|PubMed:20308323}.
uniprot
proteins