METTL23
entrez
124512
canonical
uniprot
Q86XA0
canonical
ensembl
ENSG00000181038
resolver
ensp
ENSP00000341543
resolver
ensp
ENSP00000465430
resolver
ensp
ENSP00000465890
resolver
ensp
ENSP00000466203
resolver
ensp
ENSP00000467503
resolver
ensp
ENSP00000482599
resolver
ensp
ENSP00000575570
resolver
ensp
ENSP00000575571
resolver
genesymbol
C17orf95
resolver
genesymbol
METTL23
resolver
genesymbol_syn
C17orf95
resolver
hgnc
HGNC:26988
resolver
uniprot
H9ZYJ0
resolver
uniprot
K7EK32
resolver
uniprot
Q8N712
resolver
uniprot_entry
MET23_HUMAN
resolver
uniprot_entry
Q8N712_HUMAN
resolver
uniprot_sec
H9ZYJ0
resolver
uniprot_sec
K7EK32
resolver
amino_acid_sequence
MYVWPCAVVLAQYLWFHRRSLPGKAILEIGAGVSLPGILAAKCGAEVILSDSSELPHCLEVCRQSCQMNNLPHLQVVGLTWGHISWDLLALPPQDIILASDVFFEPEDFEDILATIYFLMHKNPKVQLWSTYQVRSADWSLEALLYKWDMKCVHIPLESFDADKEDIAESTLPGRHTVEMLVISFAKDSL
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal recessive 44 (MRT44) [MIM:615942]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT44 manifestations include mild to severe cognitive impairment, delayed psychomotor development, seizures in some patients, and dysmorphic features. {ECO:0000269|PubMed:24501276, ECO:0000269|PubMed:24626631, ECO:0000269|PubMed:32067349, ECO:0000269|PubMed:32439618}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.1.1.319
uniprot
proteins
function
FUNCTION: Histone methyltransferase that dimethylates histone H3 at 'Arg-17', forming asymmetric dimethylarginine (H3R17me2a), leading to activate transcription via chromatin remodeling (By similarity). Maternal factor involved in epigenetic chromatin reprogramming of the paternal genome in the zygote: mediates H3R17me2a, promoting histone H3.3 incorporation in the male pronucleus, leading to TET3 recruitment and subsequent DNA demethylation (By similarity). {ECO:0000250|UniProtKB:A2AA28}.
uniprot
proteins
mass_dalton
21469
uniprot
proteins
protein_family
METTL23 family
uniprot
proteins
protein_family
Methyltransferase superfamily
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
23349634
uniprot
proteins
pubmed
24501276
uniprot
proteins
pubmed
24626631
uniprot
proteins
pubmed
32067349
uniprot
proteins
pubmed
32439618
uniprot
proteins
sequence_length
190
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:24501276}. Cytoplasm {ECO:0000269|PubMed:23349634, ECO:0000269|PubMed:24501276}. Note=Localizes in male and female zygote pronucleus and cytoplasm. {ECO:0000250|UniProtKB:A2AA28}.
uniprot
proteins