UniProtKB - Q9Y6K1 (DNM3A_HUMAN)
DNA (cytosine-5)-methyltransferase 3A
DNMT3A
Functioni
Caution
Catalytic activityi
- a 2'-deoxycytidine in DNA + S-adenosyl-L-methionine = a 5-methyl-2'-deoxycytidine in DNA + H+ + S-adenosyl-L-homocysteinePROSITE-ProRule annotationEC:2.1.1.37PROSITE-ProRule annotation
Activity regulationi
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 664 | S-adenosyl-L-methionineCombined sources1 Publication | 1 | |
Active sitei | 710 | PROSITE-ProRule annotation | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 493 – 523 | GATA-type; atypicalPROSITE-ProRule annotationAdd BLAST | 31 | |
Zinc fingeri | 534 – 590 | PHD-type; atypicalPROSITE-ProRule annotationAdd BLAST | 57 |
GO - Molecular functioni
- chromatin binding Source: Ensembl
- DNA (cytosine-5-)-methyltransferase activity Source: UniProtKB
- DNA binding Source: UniProtKB
- identical protein binding Source: IntAct
- metal ion binding Source: UniProtKB-KW
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: BHF-UCL
- transcription corepressor activity Source: ARUK-UCL
- transcription factor binding Source: BHF-UCL
GO - Biological processi
- aging Source: Ensembl
- cellular response to amino acid stimulus Source: Ensembl
- cellular response to ethanol Source: Ensembl
- cellular response to hypoxia Source: Ensembl
- DNA methylation Source: UniProtKB
- DNA methylation-dependent heterochromatin assembly Source: Ensembl
- DNA methylation involved in embryo development Source: Ensembl
- DNA methylation involved in gamete generation Source: Ensembl
- hepatocyte apoptotic process Source: Ensembl
- mitotic cell cycle Source: Ensembl
- negative regulation of gene expression, epigenetic Source: Reactome
- negative regulation of transcription by RNA polymerase II Source: BHF-UCL
- neuron differentiation Source: Ensembl
- positive regulation of cell death Source: Ensembl
- regulation of gene expression by genetic imprinting Source: UniProtKB
- response to cocaine Source: Ensembl
- response to drug Source: Ensembl
- response to estradiol Source: Ensembl
- response to ionizing radiation Source: Ensembl
- response to lead ion Source: Ensembl
- response to toxic substance Source: Ensembl
- response to vitamin A Source: Ensembl
- spermatogenesis Source: Ensembl
Keywordsi
Molecular function | Chromatin regulator, DNA-binding, Methyltransferase, Repressor, Transferase |
Ligand | Metal-binding, S-adenosyl-L-methionine, Zinc |
Enzyme and pathway databases
BRENDAi | 2.1.1.37, 2681 |
PathwayCommonsi | Q9Y6K1 |
Reactomei | R-HSA-212300, PRC2 methylates histones and DNA R-HSA-3214858, RMTs methylate histone arginines R-HSA-4655427, SUMOylation of DNA methylation proteins R-HSA-5334118, DNA methylation |
SIGNORi | Q9Y6K1 |
Protein family/group databases
REBASEi | 4119, M.HsaDnmt3A |
Names & Taxonomyi
Protein namesi | Recommended name: DNA (cytosine-5)-methyltransferase 3A (EC:2.1.1.37)Short name: Dnmt3a Alternative name(s): DNA methyltransferase HsaIIIA Short name: DNA MTase HsaIIIA Short name: M.HsaIIIA |
Gene namesi | Name:DNMT3A |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:2978, DNMT3A |
MIMi | 602769, gene |
neXtProti | NX_Q9Y6K1 |
VEuPathDBi | HostDB:ENSG00000119772.16 |
Subcellular locationi
Nucleus
- nuclear matrix Source: UniProtKB
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Other locations
- chromosome, centromeric region Source: Ensembl
- cytoplasm Source: UniProtKB
- euchromatin Source: UniProtKB
- heterochromatin Source: Ensembl
- XY body Source: Ensembl
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & Biotechi
Involvement in diseasei
Tatton-Brown-Rahman syndrome (TBRS)6 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_071463 | 310 | I → N in TBRS; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs587777508EnsemblClinVar. | 1 | |
Natural variantiVAR_077522 | 365 | Y → C in TBRS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs144062658Ensembl. | 1 | |
Natural variantiVAR_077523 | 529 | D → N in TBRS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs962805778Ensembl. | 1 | |
Natural variantiVAR_071464 | 532 | G → S in TBRS; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs951361433Ensembl. | 1 | |
Natural variantiVAR_071465 | 548 | M → K in TBRS; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs587777509EnsemblClinVar. | 1 | |
Natural variantiVAR_071466 | 549 | C → R in TBRS; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_071467 | 648 | L → P in TBRS; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs587777507EnsemblClinVar. | 1 | |
Natural variantiVAR_071468 | 700 | P → L in TBRS; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs772368909Ensembl. | 1 | |
Natural variantiVAR_071469 | 749 | R → C in TBRS; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs754613602Ensembl. | 1 | |
Natural variantiVAR_077524 | 771 | R → Q in TBRS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs757823678EnsemblClinVar. | 1 | |
Natural variantiVAR_077525 | 778 | V → G in TBRS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs979932565Ensembl. | 1 | |
Natural variantiVAR_071470 | 838 | N → D in TBRS; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs961377711Ensembl. | 1 | |
Natural variantiVAR_067236 | 882 | R → C in TBRS and AML; somatic variant in AML. 4 PublicationsCorresponds to variant dbSNP:rs377577594EnsemblClinVar. | 1 | |
Natural variantiVAR_067237 | 882 | R → H in TBRS and AML; somatic variant in AML. 4 PublicationsCorresponds to variant dbSNP:rs147001633EnsemblClinVar. | 1 | |
Natural variantiVAR_071471 | 902 | F → S in TBRS; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs587777510EnsemblClinVar. | 1 | |
Natural variantiVAR_071472 | 904 | P → L in TBRS; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs149095705EnsemblClinVar. | 1 |
Leukemia, acute myelogenous (AML)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067236 | 882 | R → C in TBRS and AML; somatic variant in AML. 4 PublicationsCorresponds to variant dbSNP:rs377577594EnsemblClinVar. | 1 | |
Natural variantiVAR_067237 | 882 | R → H in TBRS and AML; somatic variant in AML. 4 PublicationsCorresponds to variant dbSNP:rs147001633EnsemblClinVar. | 1 |
Heyn-Sproul-Jackson syndrome (HESJAS)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083539 | 330 | W → R in HESJAS; no effect on protein expression; changed DNA methylation; results in aberrant expression of genes involved in developmental processes. 1 Publication | 1 | |
Natural variantiVAR_083540 | 333 | D → N in HESJAS; changed DNA methylation; results in aberrant expression of genes involved in developmental processes. 1 Publication | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 732 | F → A: Loss of activity du to the incapacity to bind the regulatory subunit DNMT3L. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Dwarfism, Mental retardationOrganism-specific databases
DisGeNETi | 1788 |
MalaCardsi | DNMT3A |
MIMi | 601626, phenotype 615879, phenotype 618724, phenotype |
OpenTargetsi | ENSG00000119772 |
Orphaneti | 276621, Sporadic pheochromocytoma/secreting paraganglioma 404443, Tall stature-intellectual disability-facial dysmorphism syndrome |
PharmGKBi | PA27445 |
Miscellaneous databases
Pharosi | Q9Y6K1, Tclin |
Chemistry databases
ChEMBLi | CHEMBL1992 |
DrugBanki | DB01262, Decitabine DB00721, Procaine |
DrugCentrali | Q9Y6K1 |
Genetic variation databases
BioMutai | DNMT3A |
DMDMi | 166215081 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000088043 | 1 – 912 | DNA (cytosine-5)-methyltransferase 3AAdd BLAST | 912 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 105 | PhosphoserineCombined sources | 1 | |
Modified residuei | 124 | PhosphothreonineBy similarity | 1 | |
Cross-linki | 162 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 171 | Omega-N-methylarginineBy similarity | 1 | |
Modified residuei | 243 | PhosphoserineCombined sources | 1 | |
Modified residuei | 255 | PhosphoserineCombined sources | 1 | |
Modified residuei | 261 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 267 | PhosphoserineCombined sources | 1 | |
Modified residuei | 390 | PhosphoserineBy similarity | 1 | |
Modified residuei | 393 | PhosphoserineBy similarity | 1 |
Post-translational modificationi
Keywords - PTMi
Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q9Y6K1 |
jPOSTi | Q9Y6K1 |
MassIVEi | Q9Y6K1 |
PaxDbi | Q9Y6K1 |
PeptideAtlasi | Q9Y6K1 |
PRIDEi | Q9Y6K1 |
ProteomicsDBi | 19854 86709 [Q9Y6K1-1] 86710 [Q9Y6K1-2] 86711 [Q9Y6K1-3] |
PTM databases
iPTMneti | Q9Y6K1 |
PhosphoSitePlusi | Q9Y6K1 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000119772, Expressed in female gonad and 191 other tissues |
ExpressionAtlasi | Q9Y6K1, baseline and differential |
Genevisiblei | Q9Y6K1, HS |
Organism-specific databases
HPAi | ENSG00000119772, Low tissue specificity |
Interactioni
Subunit structurei
Heterotetramer composed of 1 DNMT3A homodimer and 2 DNMT3L subunits (DNMT3L-DNMT3A-DNMT3A-DNMT3L).
Interacts with UBC9, PIAS1 and PIAS2 (By similarity). Binds the ZBTB18 transcriptional repressor.
Interacts with SETDB1. Associates with HDAC1 through its ADD domain.
Interacts with UHRF1 (By similarity).
Interacts with DNMT1 and DNMT3B.
Interacts with the PRC2/EED-EZH2 complex.
Interacts with MPHOSPH8.
Interacts with histone H3 that is not methylated at 'Lys-4' (H3K4).
Interacts with SPOCD1 (By similarity).
By similarity7 PublicationsBinary interactionsi
Hide detailsQ9Y6K1
GO - Molecular functioni
- identical protein binding Source: IntAct
- transcription factor binding Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 108125, 69 interactors |
ComplexPortali | CPX-944, DNA (cytosine-5)-methyltransferase 3A complex |
CORUMi | Q9Y6K1 |
DIPi | DIP-38004N |
IntActi | Q9Y6K1, 35 interactors |
MINTi | Q9Y6K1 |
STRINGi | 9606.ENSP00000264709 |
Chemistry databases
BindingDBi | Q9Y6K1 |
Miscellaneous databases
RNActi | Q9Y6K1, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q9Y6K1 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q9Y6K1 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 292 – 350 | PWWPPROSITE-ProRule annotationAdd BLAST | 59 | |
Domaini | 482 – 614 | ADDPROSITE-ProRule annotationAdd BLAST | 133 | |
Domaini | 634 – 912 | SAM-dependent MTase C5-typePROSITE-ProRule annotationAdd BLAST | 279 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 199 – 403 | Interaction with DNMT1 and DNMT3B1 PublicationAdd BLAST | 205 | |
Regioni | 494 – 586 | Interaction with the PRC2/EED-EZH2 complexBy similarityAdd BLAST | 93 | |
Regioni | 641 – 645 | S-adenosyl-L-methionine bindingCombined sources1 Publication | 5 | |
Regioni | 686 – 688 | S-adenosyl-L-methionine bindingCombined sources1 Publication | 3 | |
Regioni | 891 – 893 | S-adenosyl-L-methionine bindingCombined sources1 Publication | 3 |
Domaini
Sequence similaritiesi
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 493 – 523 | GATA-type; atypicalPROSITE-ProRule annotationAdd BLAST | 31 | |
Zinc fingeri | 534 – 590 | PHD-type; atypicalPROSITE-ProRule annotationAdd BLAST | 57 |
Keywords - Domaini
Zinc-fingerPhylogenomic databases
eggNOGi | ENOG502QR6U, Eukaryota |
GeneTreei | ENSGT00940000155459 |
HOGENOMi | CLU_121732_0_0_1 |
InParanoidi | Q9Y6K1 |
OMAi | SVXVASS |
OrthoDBi | 1015783at2759 |
PhylomeDBi | Q9Y6K1 |
TreeFami | TF329039 |
Family and domain databases
CDDi | cd11729, ADDz_Dnmt3a, 1 hit |
IDEALi | IID00336 |
InterProi | View protein in InterPro IPR025766, ADD IPR044108, ADD_DNMT3A IPR018117, C5_DNA_meth_AS IPR001525, C5_MeTfrase IPR040552, DNMT3_ADD IPR030487, DNMT3A IPR000313, PWWP_dom IPR029063, SAM-dependent_MTases |
PANTHERi | PTHR23068:SF10, PTHR23068:SF10, 1 hit |
Pfami | View protein in Pfam PF17980, ADD_DNMT3, 1 hit PF00145, DNA_methylase, 1 hit PF00855, PWWP, 1 hit |
SMARTi | View protein in SMART SM00293, PWWP, 1 hit |
SUPFAMi | SSF53335, SSF53335, 1 hit |
PROSITEi | View protein in PROSITE PS51533, ADD, 1 hit PS00094, C5_MTASE_1, 1 hit PS50812, PWWP, 1 hit PS51679, SAM_MT_C5, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative promoter usage and alternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MPAMPSSGPG DTSSSAAERE EDRKDGEEQE EPRGKEERQE PSTTARKVGR
60 70 80 90 100
PGRKRKHPPV ESGDTPKDPA VISKSPSMAQ DSGASELLPN GDLEKRSEPQ
110 120 130 140 150
PEEGSPAGGQ KGGAPAEGEG AAETLPEASR AVENGCCTPK EGRGAPAEAG
160 170 180 190 200
KEQKETNIES MKMEGSRGRL RGGLGWESSL RQRPMPRLTF QAGDPYYISK
210 220 230 240 250
RKRDEWLARW KREAEKKAKV IAGMNAVEEN QGPGESQKVE EASPPAVQQP
260 270 280 290 300
TDPASPTVAT TPEPVGSDAG DKNATKAGDD EPEYEDGRGF GIGELVWGKL
310 320 330 340 350
RGFSWWPGRI VSWWMTGRSR AAEGTRWVMW FGDGKFSVVC VEKLMPLSSF
360 370 380 390 400
CSAFHQATYN KQPMYRKAIY EVLQVASSRA GKLFPVCHDS DESDTAKAVE
410 420 430 440 450
VQNKPMIEWA LGGFQPSGPK GLEPPEEEKN PYKEVYTDMW VEPEAAAYAP
460 470 480 490 500
PPPAKKPRKS TAEKPKVKEI IDERTRERLV YEVRQKCRNI EDICISCGSL
510 520 530 540 550
NVTLEHPLFV GGMCQNCKNC FLECAYQYDD DGYQSYCTIC CGGREVLMCG
560 570 580 590 600
NNNCCRCFCV ECVDLLVGPG AAQAAIKEDP WNCYMCGHKG TYGLLRRRED
610 620 630 640 650
WPSRLQMFFA NNHDQEFDPP KVYPPVPAEK RKPIRVLSLF DGIATGLLVL
660 670 680 690 700
KDLGIQVDRY IASEVCEDSI TVGMVRHQGK IMYVGDVRSV TQKHIQEWGP
710 720 730 740 750
FDLVIGGSPC NDLSIVNPAR KGLYEGTGRL FFEFYRLLHD ARPKEGDDRP
760 770 780 790 800
FFWLFENVVA MGVSDKRDIS RFLESNPVMI DAKEVSAAHR ARYFWGNLPG
810 820 830 840 850
MNRPLASTVN DKLELQECLE HGRIAKFSKV RTITTRSNSI KQGKDQHFPV
860 870 880 890 900
FMNEKEDILW CTEMERVFGF PVHYTDVSNM SRLARQRLLG RSWSVPVIRH
910
LFAPLKEYFA CV
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF8WE91 | F8WE91_HUMAN | DNA (cytosine-5-)-methyltransferase | DNMT3A | 781 | Annotation score: | ||
A0A0C4DG02 | A0A0C4DG02_HUMAN | DNA (cytosine-5-)-methyltransferase | DNMT3A | 689 | Annotation score: |
Sequence cautioni
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_071463 | 310 | I → N in TBRS; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs587777508EnsemblClinVar. | 1 | |
Natural variantiVAR_083539 | 330 | W → R in HESJAS; no effect on protein expression; changed DNA methylation; results in aberrant expression of genes involved in developmental processes. 1 Publication | 1 | |
Natural variantiVAR_083540 | 333 | D → N in HESJAS; changed DNA methylation; results in aberrant expression of genes involved in developmental processes. 1 Publication | 1 | |
Natural variantiVAR_077522 | 365 | Y → C in TBRS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs144062658Ensembl. | 1 | |
Natural variantiVAR_077523 | 529 | D → N in TBRS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs962805778Ensembl. | 1 | |
Natural variantiVAR_071464 | 532 | G → S in TBRS; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs951361433Ensembl. | 1 | |
Natural variantiVAR_071465 | 548 | M → K in TBRS; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs587777509EnsemblClinVar. | 1 | |
Natural variantiVAR_071466 | 549 | C → R in TBRS; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_071467 | 648 | L → P in TBRS; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs587777507EnsemblClinVar. | 1 | |
Natural variantiVAR_067234 | 699 | G → D in a patient with chronic myelomonocytic leukemia. 1 PublicationCorresponds to variant dbSNP:rs761064473Ensembl. | 1 | |
Natural variantiVAR_071468 | 700 | P → L in TBRS; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs772368909Ensembl. | 1 | |
Natural variantiVAR_067235 | 731 | Missing in a patient with chronic myelomonocytic leukemia. 1 Publication | 1 | |
Natural variantiVAR_071469 | 749 | R → C in TBRS; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs754613602Ensembl. | 1 | |
Natural variantiVAR_077524 | 771 | R → Q in TBRS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs757823678EnsemblClinVar. | 1 | |
Natural variantiVAR_077525 | 778 | V → G in TBRS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs979932565Ensembl. | 1 | |
Natural variantiVAR_071470 | 838 | N → D in TBRS; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs961377711Ensembl. | 1 | |
Natural variantiVAR_067236 | 882 | R → C in TBRS and AML; somatic variant in AML. 4 PublicationsCorresponds to variant dbSNP:rs377577594EnsemblClinVar. | 1 | |
Natural variantiVAR_067237 | 882 | R → H in TBRS and AML; somatic variant in AML. 4 PublicationsCorresponds to variant dbSNP:rs147001633EnsemblClinVar. | 1 | |
Natural variantiVAR_067238 | 882 | R → P in a patient with chronic myelomonocytic leukemia; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs147001633EnsemblClinVar. | 1 | |
Natural variantiVAR_071471 | 902 | F → S in TBRS; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs587777510EnsemblClinVar. | 1 | |
Natural variantiVAR_071472 | 904 | P → L in TBRS; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs149095705EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_046254 | 1 – 213 | MPAMP…RWKRE → MGILERVVRRNGRVDRSLKD ECDT in isoform 2. 1 PublicationAdd BLAST | 213 | |
Alternative sequenceiVSP_040998 | 151 – 166 | KEQKE…KMEGS → ESSAPGAASSGPTSIP in isoform 3. 1 PublicationAdd BLAST | 16 | |
Alternative sequenceiVSP_040999 | 167 – 912 | Missing in isoform 3. 1 PublicationAdd BLAST | 746 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF067972 mRNA Translation: AAD33084.2 AF480163 mRNA Translation: AAN40037.1 Different initiation. AF331856 mRNA Translation: AAL57039.1 Different initiation. AC012074 Genomic DNA Translation: AAY14761.1 CH471053 Genomic DNA Translation: EAX00727.1 BC032392 mRNA Translation: AAH32392.1 BC043617 mRNA Translation: AAH43617.1 BC051864 mRNA Translation: AAH51864.1 |
CCDSi | CCDS1718.2 [Q9Y6K1-2] CCDS33157.1 [Q9Y6K1-1] CCDS46232.1 [Q9Y6K1-3] |
RefSeqi | NP_001307821.1, NM_001320892.1 [Q9Y6K1-3] NP_001307822.1, NM_001320893.1 NP_072046.2, NM_022552.4 [Q9Y6K1-1] NP_715640.2, NM_153759.3 [Q9Y6K1-2] NP_783328.1, NM_175629.2 [Q9Y6K1-1] NP_783329.1, NM_175630.1 [Q9Y6K1-3] XP_005264232.1, XM_005264175.4 [Q9Y6K1-1] XP_005264234.1, XM_005264177.4 XP_011530969.1, XM_011532667.2 XP_016859015.1, XM_017003526.1 [Q9Y6K1-1] XP_016859016.1, XM_017003527.1 |
Genome annotation databases
Ensembli | ENST00000264709; ENSP00000264709; ENSG00000119772 [Q9Y6K1-1] ENST00000321117; ENSP00000324375; ENSG00000119772 [Q9Y6K1-1] ENST00000380746; ENSP00000370122; ENSG00000119772 [Q9Y6K1-2] ENST00000406659; ENSP00000384852; ENSG00000119772 [Q9Y6K1-3] |
GeneIDi | 1788 |
KEGGi | hsa:1788 |
UCSCi | uc002rgb.5, human [Q9Y6K1-1] |
Keywords - Coding sequence diversityi
Alternative promoter usage, Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF067972 mRNA Translation: AAD33084.2 AF480163 mRNA Translation: AAN40037.1 Different initiation. AF331856 mRNA Translation: AAL57039.1 Different initiation. AC012074 Genomic DNA Translation: AAY14761.1 CH471053 Genomic DNA Translation: EAX00727.1 BC032392 mRNA Translation: AAH32392.1 BC043617 mRNA Translation: AAH43617.1 BC051864 mRNA Translation: AAH51864.1 |
CCDSi | CCDS1718.2 [Q9Y6K1-2] CCDS33157.1 [Q9Y6K1-1] CCDS46232.1 [Q9Y6K1-3] |
RefSeqi | NP_001307821.1, NM_001320892.1 [Q9Y6K1-3] NP_001307822.1, NM_001320893.1 NP_072046.2, NM_022552.4 [Q9Y6K1-1] NP_715640.2, NM_153759.3 [Q9Y6K1-2] NP_783328.1, NM_175629.2 [Q9Y6K1-1] NP_783329.1, NM_175630.1 [Q9Y6K1-3] XP_005264232.1, XM_005264175.4 [Q9Y6K1-1] XP_005264234.1, XM_005264177.4 XP_011530969.1, XM_011532667.2 XP_016859015.1, XM_017003526.1 [Q9Y6K1-1] XP_016859016.1, XM_017003527.1 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2QRV | X-ray | 2.89 | A/D/E/H | 627-912 | [»] | |
3A1A | X-ray | 2.30 | A | 476-614 | [»] | |
3A1B | X-ray | 2.29 | A | 476-614 | [»] | |
3LLR | X-ray | 2.30 | A/B/C/D/E | 275-427 | [»] | |
3SVM | X-ray | 2.31 | P | 40-53 | [»] | |
4QBQ | X-ray | 2.41 | A/C | 479-610 | [»] | |
4QBR | X-ray | 1.90 | A/C | 476-611 | [»] | |
4QBS | X-ray | 1.80 | A | 476-611 | [»] | |
4U7P | X-ray | 3.82 | A | 455-912 | [»] | |
4U7T | X-ray | 2.90 | A/C | 476-912 | [»] | |
5YX2 | X-ray | 2.65 | A/D | 628-912 | [»] | |
6BRR | X-ray | 2.97 | A/D | 628-912 | [»] | |
6F57 | X-ray | 3.10 | A/D | 628-912 | [»] | |
6PA7 | electron microscopy | 2.94 | K/P | 224-912 | [»] | |
6W89 | X-ray | 2.50 | A/D/G/J | 628-912 | [»] | |
6W8B | X-ray | 2.40 | A/D/H/K | 628-912 | [»] | |
6W8D | X-ray | 2.60 | A/D | 628-912 | [»] | |
6W8J | X-ray | 2.44 | A/D | 628-912 | [»] | |
SMRi | Q9Y6K1 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 108125, 69 interactors |
ComplexPortali | CPX-944, DNA (cytosine-5)-methyltransferase 3A complex |
CORUMi | Q9Y6K1 |
DIPi | DIP-38004N |
IntActi | Q9Y6K1, 35 interactors |
MINTi | Q9Y6K1 |
STRINGi | 9606.ENSP00000264709 |
Chemistry databases
BindingDBi | Q9Y6K1 |
ChEMBLi | CHEMBL1992 |
DrugBanki | DB01262, Decitabine DB00721, Procaine |
DrugCentrali | Q9Y6K1 |
Protein family/group databases
REBASEi | 4119, M.HsaDnmt3A |
PTM databases
iPTMneti | Q9Y6K1 |
PhosphoSitePlusi | Q9Y6K1 |
Genetic variation databases
BioMutai | DNMT3A |
DMDMi | 166215081 |
Proteomic databases
EPDi | Q9Y6K1 |
jPOSTi | Q9Y6K1 |
MassIVEi | Q9Y6K1 |
PaxDbi | Q9Y6K1 |
PeptideAtlasi | Q9Y6K1 |
PRIDEi | Q9Y6K1 |
ProteomicsDBi | 19854 86709 [Q9Y6K1-1] 86710 [Q9Y6K1-2] 86711 [Q9Y6K1-3] |
Protocols and materials databases
ABCDi | Q9Y6K1, 1 sequenced antibody |
Antibodypediai | 4006, 976 antibodies |
DNASUi | 1788 |
Genome annotation databases
Ensembli | ENST00000264709; ENSP00000264709; ENSG00000119772 [Q9Y6K1-1] ENST00000321117; ENSP00000324375; ENSG00000119772 [Q9Y6K1-1] ENST00000380746; ENSP00000370122; ENSG00000119772 [Q9Y6K1-2] ENST00000406659; ENSP00000384852; ENSG00000119772 [Q9Y6K1-3] |
GeneIDi | 1788 |
KEGGi | hsa:1788 |
UCSCi | uc002rgb.5, human [Q9Y6K1-1] |
Organism-specific databases
CTDi | 1788 |
DisGeNETi | 1788 |
GeneCardsi | DNMT3A |
HGNCi | HGNC:2978, DNMT3A |
HPAi | ENSG00000119772, Low tissue specificity |
MalaCardsi | DNMT3A |
MIMi | 601626, phenotype 602769, gene 615879, phenotype 618724, phenotype |
neXtProti | NX_Q9Y6K1 |
OpenTargetsi | ENSG00000119772 |
Orphaneti | 276621, Sporadic pheochromocytoma/secreting paraganglioma 404443, Tall stature-intellectual disability-facial dysmorphism syndrome |
PharmGKBi | PA27445 |
VEuPathDBi | HostDB:ENSG00000119772.16 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QR6U, Eukaryota |
GeneTreei | ENSGT00940000155459 |
HOGENOMi | CLU_121732_0_0_1 |
InParanoidi | Q9Y6K1 |
OMAi | SVXVASS |
OrthoDBi | 1015783at2759 |
PhylomeDBi | Q9Y6K1 |
TreeFami | TF329039 |
Enzyme and pathway databases
BRENDAi | 2.1.1.37, 2681 |
PathwayCommonsi | Q9Y6K1 |
Reactomei | R-HSA-212300, PRC2 methylates histones and DNA R-HSA-3214858, RMTs methylate histone arginines R-HSA-4655427, SUMOylation of DNA methylation proteins R-HSA-5334118, DNA methylation |
SIGNORi | Q9Y6K1 |
Miscellaneous databases
BioGRID-ORCSi | 1788, 7 hits in 1001 CRISPR screens |
ChiTaRSi | DNMT3A, human |
EvolutionaryTracei | Q9Y6K1 |
GenomeRNAii | 1788 |
Pharosi | Q9Y6K1, Tclin |
PROi | PR:Q9Y6K1 |
RNActi | Q9Y6K1, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000119772, Expressed in female gonad and 191 other tissues |
ExpressionAtlasi | Q9Y6K1, baseline and differential |
Genevisiblei | Q9Y6K1, HS |
Family and domain databases
CDDi | cd11729, ADDz_Dnmt3a, 1 hit |
IDEALi | IID00336 |
InterProi | View protein in InterPro IPR025766, ADD IPR044108, ADD_DNMT3A IPR018117, C5_DNA_meth_AS IPR001525, C5_MeTfrase IPR040552, DNMT3_ADD IPR030487, DNMT3A IPR000313, PWWP_dom IPR029063, SAM-dependent_MTases |
PANTHERi | PTHR23068:SF10, PTHR23068:SF10, 1 hit |
Pfami | View protein in Pfam PF17980, ADD_DNMT3, 1 hit PF00145, DNA_methylase, 1 hit PF00855, PWWP, 1 hit |
SMARTi | View protein in SMART SM00293, PWWP, 1 hit |
SUPFAMi | SSF53335, SSF53335, 1 hit |
PROSITEi | View protein in PROSITE PS51533, ADD, 1 hit PS00094, C5_MTASE_1, 1 hit PS50812, PWWP, 1 hit PS51679, SAM_MT_C5, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | DNM3A_HUMAN | |
Accessioni | Q9Y6K1Primary (citable) accession number: Q9Y6K1 Secondary accession number(s): E9PEB8 Q8WXU9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | September 26, 2001 |
Last sequence update: | January 15, 2008 | |
Last modified: | April 7, 2021 | |
This is version 189 of the entry and version 4 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families