|
gptkbp:instanceOf
|
gptkb:protein
gptkb:enzyme
|
|
gptkbp:alternativeName
|
gptkb:DNMT3A
DNA (cytosine-5)-methyltransferase 3A
|
|
gptkbp:associatedWith
|
gptkb:acute_myeloid_leukemia
gptkb:DNA_methyltransferase_1
gptkb:DNA_methyltransferase_3B
Tatton-Brown-Rahman syndrome
DNA methyltransferase 3L
|
|
gptkbp:biologicalProcess
|
gene silencing
epigenetic regulation
DNA methyltransferase activity
|
|
gptkbp:cofactor
|
gptkb:S-adenosyl-L-methionine
|
|
gptkbp:EC_number
|
2.1.1.366
|
|
gptkbp:encodedBy
|
DNMT3A gene
|
|
gptkbp:expressedIn
|
various tissues
|
|
gptkbp:firstDescribed
|
1999
|
|
gptkbp:foundIn
|
gptkb:Homo_sapiens
|
|
gptkbp:function
|
de novo DNA methylation
|
|
gptkbp:gene
|
gptkb:DNMT3A
|
|
gptkbp:HGNC_ID
|
2976
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
DNA methyltransferase 3A
|
|
gptkbp:interactsWith
|
gptkb:DNMT3B
gptkb:DNMT3L
|
|
gptkbp:involves
|
developmental processes
|
|
gptkbp:locatedOnChromosome
|
chromosome 2p23
|
|
gptkbp:location
|
gptkb:nucleus
|
|
gptkbp:molecularWeight
|
~100 kDa
|
|
gptkbp:mutationAssociatedWith
|
nonsense
missense
frameshift
predisposes to hematological malignancies
|
|
gptkbp:OMIM
|
602769
|
|
gptkbp:orthologInMouse
|
Dnmt3a
|
|
gptkbp:pathway
|
epigenetic gene regulation
DNA methylation pathway
|
|
gptkbp:PDB
|
5YX2
|
|
gptkbp:proteinFamily
|
DNA methyltransferase family
|
|
gptkbp:regulates
|
gene expression
histone modification
transcriptional
|
|
gptkbp:reviewedBy
|
gptkb:Nature_Genetics
Cell
|
|
gptkbp:structure
|
contains methyltransferase domain
contains PWWP domain
contains ADD domain
|
|
gptkbp:substrate
|
cytosine in CpG dinucleotides
|
|
gptkbp:UniProtID
|
Q9Y6K1
|
|
gptkbp:bfsParent
|
gptkb:decitabine
|
|
gptkbp:bfsLayer
|
8
|