UniProtKB - Q9Y6K1 (DNM3A_HUMAN)

BLAST

>sp|Q9Y6K1|DNM3A_HUMAN DNA (cytosine-5)-methyltransferase 3A OS=Homo sapiens OX=9606 GN=DNMT3A PE=1 SV=4
MPAMPSSGPGDTSSSAAEREEDRKDGEEQEEPRGKEERQEPSTTARKVGRPGRKRKHPPV
ESGDTPKDPAVISKSPSMAQDSGASELLPNGDLEKRSEPQPEEGSPAGGQKGGAPAEGEG
AAETLPEASRAVENGCCTPKEGRGAPAEAGKEQKETNIESMKMEGSRGRLRGGLGWESSL
RQRPMPRLTFQAGDPYYISKRKRDEWLARWKREAEKKAKVIAGMNAVEENQGPGESQKVE
EASPPAVQQPTDPASPTVATTPEPVGSDAGDKNATKAGDDEPEYEDGRGFGIGELVWGKL
RGFSWWPGRIVSWWMTGRSRAAEGTRWVMWFGDGKFSVVCVEKLMPLSSFCSAFHQATYN
KQPMYRKAIYEVLQVASSRAGKLFPVCHDSDESDTAKAVEVQNKPMIEWALGGFQPSGPK
GLEPPEEEKNPYKEVYTDMWVEPEAAAYAPPPPAKKPRKSTAEKPKVKEIIDERTRERLV
YEVRQKCRNIEDICISCGSLNVTLEHPLFVGGMCQNCKNCFLECAYQYDDDGYQSYCTIC
CGGREVLMCGNNNCCRCFCVECVDLLVGPGAAQAAIKEDPWNCYMCGHKGTYGLLRRRED
WPSRLQMFFANNHDQEFDPPKVYPPVPAEKRKPIRVLSLFDGIATGLLVLKDLGIQVDRY
IASEVCEDSITVGMVRHQGKIMYVGDVRSVTQKHIQEWGPFDLVIGGSPCNDLSIVNPAR
KGLYEGTGRLFFEFYRLLHDARPKEGDDRPFFWLFENVVAMGVSDKRDISRFLESNPVMI
DAKEVSAAHRARYFWGNLPGMNRPLASTVNDKLELQECLEHGRIAKFSKVRTITTRSNSI
KQGKDQHFPVFMNEKEDILWCTEMERVFGFPVHYTDVSNMSRLARQRLLGRSWSVPVIRH
LFAPLKEYFACV

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History
Entry version 170 (12 Sep 2018)
Sequence version 4 (15 Jan 2008)
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Protein

DNA (cytosine-5)-methyltransferase 3A

Gene

DNMT3A

Organism

Homo sapiens (Human)

Status

Reviewed-Annotation score: -Experimental evidence at protein levelⁱ

Functionⁱ

Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. It modifies DNA in a non-processive manner and also methylates non-CpG sites. May preferentially methylate DNA linker between 2 nucleosomal cores and is inhibited by histone H1. Plays a role in paternal and maternal imprinting. Required for methylation of most imprinted loci in germ cells. Acts as a transcriptional corepressor for ZBTB18. Recruited to trimethylated 'Lys-36' of histone H3 (H3K36me3) sites. Can actively repress transcription through the recruitment of HDAC activity.1 Publication

Caution

It is uncertain whether Met-1 or Met-4 is the initiator.Curated

Catalytic activityⁱ

S-adenosyl-L-methionine + DNA = S-adenosyl-L-homocysteine + DNA containing 5-methylcytosine.PROSITE-ProRule annotation

Activity regulationⁱ

Activated by binding to the regulatory factor DNMT3L.By similarity

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
Inferred from direct assayⁱ
- 12138111
DNA binding
Source: UniProtKB
Inferred from direct assayⁱ
- 12138111
DNA-methyltransferase activity Source: Reactome
identical protein binding
Source: IntAct
Inferred from physical interactionⁱ
- 24656771
metal ion binding Source: UniProtKB-KW
RNA polymerase II transcription factor activity, sequence-specific DNA binding Source: NTNU_SB

View the complete GO annotation on QuickGO ...

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
Inferred from direct assayⁱ
- 12138111
DNA methylation involved in embryo development Source: Ensembl
DNA methylation involved in gamete generation Source: Ensembl
hepatocyte apoptotic process Source: Ensembl
methylation-dependent chromatin silencing Source: Ensembl
mitotic cell cycle Source: Ensembl
negative regulation of gene expression, epigenetic Source: Reactome
negative regulation of transcription by RNA polymerase II Source: Ensembl
neuron differentiation Source: Ensembl
positive regulation of cell death Source: Ensembl
regulation of gene expression by genetic imprinting
Source: UniProtKB
Traceable author statementⁱ
- 12138111
response to cocaine Source: Ensembl
response to estradiol Source: Ensembl
response to ionizing radiation Source: Ensembl
response to lead ion Source: Ensembl
response to vitamin A Source: Ensembl
spermatogenesis Source: Ensembl

View the complete GO annotation on QuickGO ...

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
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

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	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 2

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000119772.16
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:2978 DNMT3A
MIMⁱ	602769 gene
neXtProtⁱ	NX_Q9Y6K1

Keywords - Cellular componentⁱ

Cytoplasm, Nucleus

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Tatton-Brown-Rahman syndrome (TBRS)3 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn overgrowth syndrome characterized by a distinctive facial appearance, tall stature and intellectual disability. Facial gestalt is characterized by a round face, heavy horizontal eyebrows and narrow palpebral fissures. Less common features include atrial septal defects, seizures, umbilical hernia, and scoliosis.

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 mutation, Mental retardation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	1788
MalaCards human disease database More...MalaCardsⁱ	DNMT3A
MIMⁱ	615879 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000119772
Orphanetⁱ	404443 Tall stature-intellectual disability-facial dysmorphism syndrome
PharmGKBⁱ	PA27445

Chemistry databases

ChEMBLⁱ	CHEMBL1992

ChEMBLⁱ

CHEMBL1992

Polymorphism and mutation 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	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

Sumoylated; sumoylation disrupts the ability to interact with histone deacetylases (HDAC1 and HDAC2) and repress transcription.By similarity

Keywords - PTMⁱ

Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDⁱ	Q9Y6K1
PaxDbⁱ	Q9Y6K1
PeptideAtlas More...PeptideAtlasⁱ	Q9Y6K1
PRIDEⁱ	Q9Y6K1
ProteomicsDBⁱ	86709 86710 [Q9Y6K1-2] 86711 [Q9Y6K1-3]

PTM databases

iPTMnetⁱ	Q9Y6K1
PhosphoSitePlusⁱ	Q9Y6K1

Expressionⁱ

Tissue specificityⁱ

Highly expressed in fetal tissues, skeletal muscle, heart, peripheral blood mononuclear cells, kidney, and at lower levels in placenta, brain, liver, colon, spleen, small intestine and lung.1 Publication

Gene expression databases

Bgeeⁱ	ENSG00000119772 Expressed in 175 organ(s), highest expression level in female gonad
CleanExⁱ	HS_DNMT3A
ExpressionAtlasⁱ	Q9Y6K1 baseline and differential
Genevisibleⁱ	Q9Y6K1 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	CAB009469 HPA026588

HPAⁱ

CAB009469
HPA026588

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).By similarity7 Publications

Binary interactionsⁱ

With	Entry	#Exp.	IntAct	Notes
itself		4	EBI-923653,EBI-923653
CREM	Q03060	2	EBI-923653,EBI-3907794
DNMT3L	Q9UJW3-1	5	EBI-923653,EBI-15650345
EED	O75530	2	EBI-923653,EBI-923794
EZH2	Q15910	6	EBI-923653,EBI-530054
H3F3B	P84243	7	EBI-923653,EBI-120658
ORF73	Q9QR71	3	EBI-923653,EBI-15602554	From Human herpesvirus 8 type P (isolate GK18).
PRMT5	O14744	4	EBI-923653,EBI-351098
SETDB1	Q15047	7	EBI-923653,EBI-79691
SP100	P23497	3	EBI-923653,EBI-751145
TCL1A	P56279	5	EBI-923653,EBI-749995
UHRF1	Q96T88	7	EBI-923653,EBI-1548946

GO - Molecular functionⁱ

identical protein binding
Source: IntAct
Inferred from physical interactionⁱ
- 24656771

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	108125, 54 interactors
CORUMⁱ	Q9Y6K1
Database of interacting proteins More...DIPⁱ	DIP-38004N
IntActⁱ	Q9Y6K1, 31 interactors
Molecular INTeraction database More...MINTⁱ	Q9Y6K1
STRINGⁱ	9606.ENSP00000264709

Chemistry databases

BindingDBⁱ	Q9Y6K1

BindingDBⁱ

Q9Y6K1

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Beta strandⁱ	295 – 298	Combined sources	4
Beta strandⁱ	306 – 311	Combined sources	6
Helixⁱ	313 – 315	Combined sources	3
Beta strandⁱ	325 – 330	Combined sources	6
Turnⁱ	331 – 333	Combined sources	3
Beta strandⁱ	336 – 340	Combined sources	5
Helixⁱ	341 – 343	Combined sources	3
Beta strandⁱ	344 – 346	Combined sources	3
Helixⁱ	347 – 349	Combined sources	3
Helixⁱ	350 – 353	Combined sources	4
Helixⁱ	356 – 361	Combined sources	6
Helixⁱ	363 – 380	Combined sources	18
Helixⁱ	393 – 395	Combined sources	3
Helixⁱ	399 – 411	Combined sources	13
Turnⁱ	415 – 417	Combined sources	3
Helixⁱ	419 – 422	Combined sources	4
Helixⁱ	476 – 484	Combined sources	9
Helixⁱ	490 – 492	Combined sources	3
Turnⁱ	495 – 497	Combined sources	3
Beta strandⁱ	502 – 505	Combined sources	4
Beta strandⁱ	507 – 514	Combined sources	8
Helixⁱ	515 – 524	Combined sources	10
Beta strandⁱ	532 – 536	Combined sources	5
Turnⁱ	538 – 540	Combined sources	3
Beta strandⁱ	544 – 548	Combined sources	5
Turnⁱ	552 – 554	Combined sources	3
Beta strandⁱ	557 – 559	Combined sources	3
Helixⁱ	560 – 566	Combined sources	7
Helixⁱ	571 – 577	Combined sources	7
Beta strandⁱ	578 – 580	Combined sources	3
Turnⁱ	584 – 586	Combined sources	3
Beta strandⁱ	587 – 589	Combined sources	3
Beta strandⁱ	595 – 597	Combined sources	3
Helixⁱ	601 – 608	Combined sources	8
Helixⁱ	628 – 630	Combined sources	3
Beta strandⁱ	634 – 639	Combined sources	6
Turnⁱ	642 – 644	Combined sources	3
Helixⁱ	645 – 652	Combined sources	8
Beta strandⁱ	657 – 663	Combined sources	7
Helixⁱ	667 – 676	Combined sources	10
Turnⁱ	677 – 679	Combined sources	3
Beta strandⁱ	681 – 683	Combined sources	3
Helixⁱ	687 – 689	Combined sources	3
Helixⁱ	692 – 698	Combined sources	7
Beta strandⁱ	702 – 706	Combined sources	5
Turnⁱ	711 – 713	Combined sources	3
Turnⁱ	722 – 724	Combined sources	3
Helixⁱ	728 – 730	Combined sources	3
Helixⁱ	731 – 741	Combined sources	11
Beta strandⁱ	752 – 761	Combined sources	10
Helixⁱ	763 – 773	Combined sources	11
Beta strandⁱ	778 – 781	Combined sources	4
Helixⁱ	782 – 784	Combined sources	3
Beta strandⁱ	786 – 788	Combined sources	3
Beta strandⁱ	791 – 796	Combined sources	6
Turnⁱ	799 – 802	Combined sources	4
Helixⁱ	815 – 818	Combined sources	4
Beta strandⁱ	824 – 826	Combined sources	3
Beta strandⁱ	828 – 830	Combined sources	3
Helixⁱ	837 – 840	Combined sources	4
Turnⁱ	843 – 846	Combined sources	4
Beta strandⁱ	849 – 852	Combined sources	4
Beta strandⁱ	855 – 857	Combined sources	3
Helixⁱ	861 – 868	Combined sources	8
Turnⁱ	872 – 875	Combined sources	4
Helixⁱ	882 – 891	Combined sources	10
Helixⁱ	895 – 902	Combined sources	8
Helixⁱ	903 – 905	Combined sources	3
Turnⁱ	906 – 908	Combined sources	3

Show more details

3D structure databases

ProteinModelPortalⁱ	Q9Y6K1
SMRⁱ	Q9Y6K1
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Miscellaneous databases

EvolutionaryTraceⁱ	Q9Y6K1

EvolutionaryTraceⁱ

Q9Y6K1

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	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	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

The PWWP domain is essential for targeting to pericentric heterochromatin. It specifically recognizes and binds trimethylated 'Lys-36' of histone H3 (H3K36me3) (By similarity).By similarity

Sequence similaritiesⁱ

Belongs to the class I-like SAM-binding methyltransferase superfamily. C5-methyltransferase family.PROSITE-ProRule annotation

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-finger

Phylogenomic databases

eggNOGⁱ	ENOG410IGHW Eukaryota ENOG410XQ4Y LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000008341
HOGENOMⁱ	HOG000230875
HOVERGENⁱ	HBG051381
InParanoidⁱ	Q9Y6K1
KEGG Orthology (KO) More...KOⁱ	K17398
OMAⁱ	FPVCHDS
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G01TP
PhylomeDBⁱ	Q9Y6K1
TreeFamⁱ	TF329039

Family and domain databases

InterProⁱ	View protein in InterPro IPR025766 ADD IPR018117 C5_DNA_meth_AS IPR001525 C5_MeTfrase IPR030487 DNMT3A IPR000313 PWWP_dom IPR029063 SAM-dependent_MTases
PANTHERⁱ	PTHR23068:SF10 PTHR23068:SF10, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam 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

Sequences (3+)ⁱ

Sequence statusⁱ: Complete.

This entry describes 3 isoformsⁱ produced by alternative promoter usage and alternative splicing. Align Add to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.ⁱShow all

Isoform 1 (identifier: Q9Y6K1-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

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        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

Length:912

Mass (Da):101,858

Last modified:January 15, 2008 - v4

Checksum:ⁱBD1FF7C5B4F54A33

Isoform 2 (identifier: Q9Y6K1-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-213: MPAMPSSGPG...DEWLARWKRE → MGILERVVRRNGRVDRSLKDECDT

« Hide

        10         20         30         40         50
MGILERVVRR NGRVDRSLKD ECDTAEKKAK VIAGMNAVEE NQGPGESQKV 
        60         70         80         90        100
EEASPPAVQQ PTDPASPTVA TTPEPVGSDA GDKNATKAGD DEPEYEDGRG 
       110        120        130        140        150
FGIGELVWGK LRGFSWWPGR IVSWWMTGRS RAAEGTRWVM WFGDGKFSVV 
       160        170        180        190        200
CVEKLMPLSS FCSAFHQATY NKQPMYRKAI YEVLQVASSR AGKLFPVCHD 
       210        220        230        240        250
SDESDTAKAV EVQNKPMIEW ALGGFQPSGP KGLEPPEEEK NPYKEVYTDM 
       260        270        280        290        300
WVEPEAAAYA PPPPAKKPRK STAEKPKVKE IIDERTRERL VYEVRQKCRN 
       310        320        330        340        350
IEDICISCGS LNVTLEHPLF VGGMCQNCKN CFLECAYQYD DDGYQSYCTI 
       360        370        380        390        400
CCGGREVLMC GNNNCCRCFC VECVDLLVGP GAAQAAIKED PWNCYMCGHK 
       410        420        430        440        450
GTYGLLRRRE DWPSRLQMFF ANNHDQEFDP PKVYPPVPAE KRKPIRVLSL 
       460        470        480        490        500
FDGIATGLLV LKDLGIQVDR YIASEVCEDS ITVGMVRHQG KIMYVGDVRS 
       510        520        530        540        550
VTQKHIQEWG PFDLVIGGSP CNDLSIVNPA RKGLYEGTGR LFFEFYRLLH 
       560        570        580        590        600
DARPKEGDDR PFFWLFENVV AMGVSDKRDI SRFLESNPVM IDAKEVSAAH 
       610        620        630        640        650
RARYFWGNLP GMNRPLASTV NDKLELQECL EHGRIAKFSK VRTITTRSNS 
       660        670        680        690        700
IKQGKDQHFP VFMNEKEDIL WCTEMERVFG FPVHYTDVSN MSRLARQRLL 
       710        720 
GRSWSVPVIR HLFAPLKEYF ACV

Note: It is uncertain whether Met-1 or Met-35 is the initiator.

Show »

Length:723

Mass (Da):81,613

Checksum:ⁱ19341BDAE1B71C8B

Isoform 3 (identifier: Q9Y6K1-3) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
151-166: KEQKETNIESMKMEGS → ESSAPGAASSGPTSIP
167-912: Missing.

« Hide

        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 
ESSAPGAASS GPTSIP

Note: Produced by alternative splicing.

Show »

Length:166

Mass (Da):16,866

Checksum:ⁱ78756A71196D61B5

Computationally mapped potential isoform sequencesⁱ

There are 2 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

	Entry	Entry name		Protein names	Gene names	Length	Annotation
	A0A0C4DG02	A0A0C4DG02_HUMAN		DNA (cytosine-5)-methyltransferase ... DNA (cytosine-5)-methyltransferase 3A	DNMT3A	689	Annotation score:
	F8WE91	F8WE91_HUMAN		DNA (cytosine-5)-methyltransferase ... DNA (cytosine-5)-methyltransferase 3A	DNMT3A	781	Annotation score:

Sequence cautionⁱ

The sequence AAL57039 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

The sequence AAN40037 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature key	Position(s)	DescriptionActions	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_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 a patient with chronic myelomonocytic leukemia; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs377577594EnsemblClinVar.	1
Natural variantⁱVAR_067237	882	R → H in a patient with chronic myelomonocytic leukemia; somatic mutation. 1 PublicationCorresponds 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	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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS1718.2 [Q9Y6K1-2] CCDS33157.1 [Q9Y6K1-1] CCDS46232.1 [Q9Y6K1-3]
NCBI Reference Sequences More...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
UniGeneⁱ	Hs.515840

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
UCSC genome browser More...UCSCⁱ	uc002rgb.5 human [Q9Y6K1-1]

Keywords - Coding sequence diversityⁱ

Alternative promoter usage, Alternative splicing, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q9Y6K1	DNA (cytosine-5)-methyltransferase 3A		HUMAN		689	UniRef100_Q9Y6K1
DNA methyltransferase 3 alpha		PANTR		689
DNMT3A isoform 5		PONAB		689
DNA methyltransferase 3 alpha		PANPA		689
DNA methyltransferase 3 alpha		GORGO		689
+2
Q9Y6K1-2	DNA methyltransferase 3 alpha		PANTR		723	UniRef100_A0A2I3TNQ4
DNMT3A isoform 2		PONAB		723
DNA methyltransferase 3 alpha		GORGO		722

Protein	Similar proteins		Species	Score	Length	Source
Q9Y6K1	DNA (cytosine-5)-methyltransferase 3A	)	MOUSE		908	UniRef90_O88508
DNA (cytosine-5)-methyltransferase 3A		RAT		908
DNA methyltransferase 3 alpha		SHEEP		948
Putative dna cytosine-5-methyltransferase 3a (Fragment)		DESRO		930
DNA methyltransferase 3 alpha		CERAT		927
+219
Q9Y6K1-2	DNA methyltransferase 3 alpha		BOVIN		887	UniRef90_F1MPD5
DNA (cytosine-5)-methyltransferase 3A		PIG		755
DNA methyltransferase 3 alpha		CALJA		723
DNA methyltransferase 3 alpha		PAPAN		723
DNA methyltransferase 3 alpha		COLAP		723
+45
Q9Y6K1-3	DNA methyltransferase 3 alpha		SAIBB		167	UniRef90_Q9Y6K1-3
DNMT3A isoform 16 (Fragment)		PONAB		166
DNMT3A isoform 1 (Fragment)		PANTR		166
DNA methyltransferase 3 alpha		CALJA		165
Uncharacterized protein		AOTNA		164
+1

Protein	Similar proteins		Species	Score	Length	Source
Q9Y6K1	DNA (cytosine-5)-methyltransferase 3A	)	MOUSE		908	UniRef50_O88508
DNA (cytosine-5)-methyltransferase 3A		RAT		908
DNA methyltransferase 3 alpha		SHEEP		948
Putative dna cytosine-5-methyltransferase 3a (Fragment)		DESRO		930
DNA methyltransferase 3 alpha		CERAT		927
+389
Q9Y6K1-2	DNA (cytosine-5)-methyltransferase 3A		CHICK		877	UniRef50_Q4W5Z4
DNA (Cytosine-5)-methyltransferase 3B		ALLMI		727
DNA (Cytosine-5)-methyltransferase 3A		Patagioenas fasciata monilis		722
Chromosome 10 SCAF15123, whole genome shotgun sequence (Fragment)		TETNG		835
DNA (Cytosine-5-)-methyltransferase 3 alpha b		NOTKU		928
+440
Q9Y6K1-3	DNA methyltransferase 3 alpha		SAIBB		167	UniRef50_Q9Y6K1-3
DNMT3A isoform 1 (Fragment)		PANTR		166
DNMT3A isoform 16 (Fragment)		PONAB		166
DNA methyltransferase 3 alpha		CALJA		165
Uncharacterized protein		AOTNA		164
+3

Entry informationⁱ

Entry nameⁱ	DNM3A_HUMAN
Accessionⁱ	Q9Y6K1Primary (citable) accession number: Q9Y6K1 Secondary accession number(s): E9PEB8 , Q86TE8, Q86XF5, Q8IZV0, Q8WXU9
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	September 26, 2001
	Last sequence update:	January 15, 2008
	Last modified:	September 12, 2018
	This is version 170 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, Complete proteome, Reference proteome

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UniProtKB - Q9Y6K1 (DNM3A_HUMAN)

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DNA (cytosine-5)-methyltransferase 3A

DNMT3A

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Caution

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Regions

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

Protein family/group databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Nucleus

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Nucleus

Other locations

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Keywords - Diseasei

Organism-specific databases

Chemistry databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

Chemistry databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

Miscellaneous databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Region

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Zinc finger

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Computationally mapped potential isoform sequencesi

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

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Keywords - Technical termi

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Computationally mapped potential isoform sequencesⁱ

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ