METTL5
entrez
29081
canonical
uniprot
Q9NRN9
canonical
ensembl
ENSG00000138382
resolver
ensp
ENSP00000260953
resolver
ensp
ENSP00000307903
resolver
ensp
ENSP00000376415
resolver
ensp
ENSP00000386582
resolver
ensp
ENSP00000667392
resolver
enst
ENST00000260953
resolver
enst
ENST00000392640
resolver
enst
ENST00000409965
resolver
genesymbol
METTL5
resolver
hgnc
HGNC:25006
resolver
uniprot
D3DPC9
resolver
uniprot
Q9NVX1
resolver
uniprot_entry
METL5_HUMAN
resolver
uniprot_sec
D3DPC9
resolver
uniprot_sec
Q9NVX1
resolver
activity_regulation
ACTIVITY REGULATION: rRNA N6-adenosine-methyltransferase activity is inhibited by zinc. {ECO:0000269|PubMed:33428944}.
uniprot
proteins
amino_acid_sequence
MKKVRLKELESRLQQVDGFEKPKLLLEQYPTRPHIAACMLYTIHNTYDDIENKVVADLGCGCGVLSIGTAMLGAGLCVGFDIDEDALEIFNRNAEEFELTNIDMVQCDVCLLSNRMSKSFDTVIMNPPFGTKNNKGTDMAFLKTALEMARTAVYSLHKSSTREHVQKKAAEWKIKIDIIAELRYDLPASYKFHKKKSVDIEVDLIRFSF
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal recessive 72 (MRT72) [MIM:618665]: 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. MRT72 patients manifest moderate to severe intellectual disability, microcephaly, and dysmorphic facial features. {ECO:0000269|PubMed:31564433}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.1.1.-
uniprot
proteins
function
FUNCTION: Catalytic subunit of a heterodimer with TRMT112, which specifically methylates the 6th position of adenine in position 1832 of 18S rRNA (PubMed:31328227, PubMed:32217665, PubMed:33357433, PubMed:33428944, PubMed:35033535). N6-methylation of adenine(1832) in 18S rRNA resides in the decoding center of 18S rRNA and is required for translation and embryonic stem cells (ESCs) pluripotency and differentiation (PubMed:33357433). {ECO:0000269|PubMed:31328227, ECO:0000269|PubMed:32217665, ECO:0000269|PubMed:33357433, ECO:0000269|PubMed:33428944, ECO:0000269|PubMed:35033535}.
uniprot
proteins
mass_dalton
23719
uniprot
proteins
mutagenesis
MUTAGEN 126..128; /note="NPP->AAA: In METTL5-3A; abolished methyltransferase activity."; /evidence="ECO:0000269|PubMed:35033535
uniprot
proteins
protein_family
Methyltransferase superfamily
uniprot
proteins
protein_family
PrmA family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
31328227
uniprot
proteins
pubmed
31564433
uniprot
proteins
pubmed
32217665
uniprot
proteins
pubmed
33357433
uniprot
proteins
pubmed
33428944
uniprot
proteins
pubmed
34948388
uniprot
proteins
pubmed
35033535
uniprot
proteins
sequence_length
209
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:31564433}. Presynapse {ECO:0000269|PubMed:31564433}. Postsynapse {ECO:0000269|PubMed:31564433}.
uniprot
proteins