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UniProtKB - Q9Y6K1 (DNM3A_HUMAN)

Entry version 189 (07 Apr 2021)
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:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<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

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.2 Publications

Caution

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

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Activated by binding to the regulatory factor DNMT3L.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei664S-adenosyl-L-methionineCombined sources1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei710PROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri493 – 523GATA-type; atypicalPROSITE-ProRule annotationAdd BLAST31
Zinc fingeri534 – 590PHD-type; atypicalPROSITE-ProRule annotationAdd BLAST57

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionChromatin regulator, DNA-binding, Methyltransferase, Repressor, Transferase
LigandMetal-binding, S-adenosyl-L-methionine, Zinc

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		2.1.1.37, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9Y6K1

Reactome - a knowledgebase of biological pathways and processes

More...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

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q9Y6K1

Protein family/group databases

Restriction enzymes and methylases database

More...REBASEi		4119, M.HsaDnmt3A

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:DNMT3A
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:2978, DNMT3A

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		602769, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9Y6K1

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000119772.16

<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

Keywords - Cellular componenti

Cytoplasm, Nucleus

<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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Tatton-Brown-Rahman syndrome (TBRS)6 Publications
The disease is caused by variants 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071463310I → N in TBRS; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs587777508EnsemblClinVar.1
Natural variantiVAR_077522365Y → C in TBRS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs144062658Ensembl.1
Natural variantiVAR_077523529D → N in TBRS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs962805778Ensembl.1
Natural variantiVAR_071464532G → S in TBRS; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs951361433Ensembl.1
Natural variantiVAR_071465548M → K in TBRS; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs587777509EnsemblClinVar.1
Natural variantiVAR_071466549C → R in TBRS; somatic mutation. 1 Publication1
Natural variantiVAR_071467648L → P in TBRS; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs587777507EnsemblClinVar.1
Natural variantiVAR_071468700P → L in TBRS; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs772368909Ensembl.1
Natural variantiVAR_071469749R → C in TBRS; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs754613602Ensembl.1
Natural variantiVAR_077524771R → Q in TBRS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs757823678EnsemblClinVar.1
Natural variantiVAR_077525778V → G in TBRS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs979932565Ensembl.1
Natural variantiVAR_071470838N → D in TBRS; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs961377711Ensembl.1
Natural variantiVAR_067236882R → C in TBRS and AML; somatic variant in AML. 4 PublicationsCorresponds to variant dbSNP:rs377577594EnsemblClinVar.1
Natural variantiVAR_067237882R → H in TBRS and AML; somatic variant in AML. 4 PublicationsCorresponds to variant dbSNP:rs147001633EnsemblClinVar.1
Natural variantiVAR_071471902F → S in TBRS; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs587777510EnsemblClinVar.1
Natural variantiVAR_071472904P → L in TBRS; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs149095705EnsemblClinVar.1
Leukemia, acute myelogenous (AML)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067236882R → C in TBRS and AML; somatic variant in AML. 4 PublicationsCorresponds to variant dbSNP:rs377577594EnsemblClinVar.1
Natural variantiVAR_067237882R → H in TBRS and AML; somatic variant in AML. 4 PublicationsCorresponds to variant dbSNP:rs147001633EnsemblClinVar.1
Heyn-Sproul-Jackson syndrome (HESJAS)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant form of microcephalic dwarfism. Affected individuals have intrauterine growth retardation, postnatal growth restrictions, proportionate short stature, microcephaly, severe developmental delay and impaired intellectual development. More variable features include sparse hair, short broad metacarpals and phalanges, and mild recurrent infections.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_083539330W → R in HESJAS; no effect on protein expression; changed DNA methylation; results in aberrant expression of genes involved in developmental processes. 1 Publication1
Natural variantiVAR_083540333D → N in HESJAS; changed DNA methylation; results in aberrant expression of genes involved in developmental processes. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi732F → A: Loss of activity du to the incapacity to bind the regulatory subunit DNMT3L. 1 Publication1

Keywords - Diseasei

Disease variant, Dwarfism, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		1788

MalaCards human disease database

More...MalaCardsi		DNMT3A
MIMi601626, phenotype
615879, phenotype
618724, phenotype

Open Targets

More...OpenTargetsi		ENSG00000119772

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		276621, Sporadic pheochromocytoma/secreting paraganglioma
404443, Tall stature-intellectual disability-facial dysmorphism syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA27445

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9Y6K1, Tclin

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL1992

Drug and drug target database

More...DrugBanki		DB01262, Decitabine
DB00721, Procaine

DrugCentral

More...DrugCentrali		Q9Y6K1

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		DNMT3A

Domain mapping of disease mutations (DMDM)

More...DMDMi		166215081

<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

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000880431 – 912DNA (cytosine-5)-methyltransferase 3AAdd BLAST912

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei105PhosphoserineCombined sources1
Modified residuei124PhosphothreonineBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki162Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei171Omega-N-methylarginineBy similarity1
Modified residuei243PhosphoserineCombined sources1
Modified residuei255PhosphoserineCombined sources1
Modified residuei261PhosphothreonineCombined sources1
Modified residuei267PhosphoserineCombined sources1
Modified residuei390PhosphoserineBy similarity1
Modified residuei393PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

More...EPDi		Q9Y6K1

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9Y6K1

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9Y6K1

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9Y6K1

PeptideAtlas

More...PeptideAtlasi		Q9Y6K1

PRoteomics IDEntifications database

More...PRIDEi		Q9Y6K1

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		19854
86709 [Q9Y6K1-1]
86710 [Q9Y6K1-2]
86711 [Q9Y6K1-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9Y6K1

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9Y6K1

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000119772, Expressed in female gonad and 191 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9Y6K1, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9Y6K1, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000119772, Low tissue specificity

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		108125, 69 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-944, DNA (cytosine-5)-methyltransferase 3A complex

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q9Y6K1

Database of interacting proteins

More...DIPi		DIP-38004N

Protein interaction database and analysis system

More...IntActi		Q9Y6K1, 35 interactors

Molecular INTeraction database

More...MINTi		Q9Y6K1

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000264709

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		Q9Y6K1

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9Y6K1, protein

<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

1912
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9Y6K1

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q9Y6K1

<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

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini292 – 350PWWPPROSITE-ProRule annotationAdd BLAST59
Domaini482 – 614ADDPROSITE-ProRule annotationAdd BLAST133
Domaini634 – 912SAM-dependent MTase C5-typePROSITE-ProRule annotationAdd BLAST279

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni199 – 403Interaction with DNMT1 and DNMT3B1 PublicationAdd BLAST205
Regioni494 – 586Interaction with the PRC2/EED-EZH2 complexBy similarityAdd BLAST93
Regioni641 – 645S-adenosyl-L-methionine bindingCombined sources1 Publication5
Regioni686 – 688S-adenosyl-L-methionine bindingCombined sources1 Publication3
Regioni891 – 893S-adenosyl-L-methionine bindingCombined sources1 Publication3

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>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

<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

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

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri493 – 523GATA-type; atypicalPROSITE-ProRule annotationAdd BLAST31
Zinc fingeri534 – 590PHD-type; atypicalPROSITE-ProRule annotationAdd BLAST57

Keywords - Domaini

Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QR6U, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000155459

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_121732_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9Y6K1

Identification of Orthologs from Complete Genome Data

More...OMAi		SVXVASS

Database of Orthologous Groups

More...OrthoDBi		1015783at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9Y6K1

TreeFam database of animal gene trees

More...TreeFami		TF329039

Family and domain databases

Conserved Domains Database

More...CDDi		cd11729, ADDz_Dnmt3a, 1 hit

Intrinsically Disordered proteins with Extensive Annotations and Literature

More...IDEALi		IID00336

Integrated resource of protein families, domains and functional sites

More...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

The PANTHER Classification System

More...PANTHERi		PTHR23068:SF10, PTHR23068:SF10, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF17980, ADD_DNMT3, 1 hit
PF00145, DNA_methylase, 1 hit
PF00855, PWWP, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00293, PWWP, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF53335, SSF53335, 1 hit

PROSITE; a protein domain and family database

More...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

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative promoter usage and alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« 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        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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iBD1FF7C5B4F54A33
GO
Isoform 2 (identifier: Q9Y6K1-2) [UniParc]FASTAAdd to basket

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

Note: It is uncertain whether Met-1 or Met-35 is the initiator.Curated
Show »
Length:723
Mass (Da):81,613
Checksum:i19341BDAE1B71C8B
GO
Isoform 3 (identifier: Q9Y6K1-3) [UniParc]FASTAAdd to basket

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

Note: Produced by alternative splicing.Curated
Show »
Length:166
Mass (Da):16,866
Checksum:i78756A71196D61B5
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8WE91F8WE91_HUMAN
DNA (cytosine-5-)-methyltransferase
DNMT3A
781Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0C4DG02A0A0C4DG02_HUMAN
DNA (cytosine-5-)-methyltransferase
DNMT3A
689Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<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

The sequence AAL57039 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAN40037 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071463310I → N in TBRS; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs587777508EnsemblClinVar.1
Natural variantiVAR_083539330W → R in HESJAS; no effect on protein expression; changed DNA methylation; results in aberrant expression of genes involved in developmental processes. 1 Publication1
Natural variantiVAR_083540333D → N in HESJAS; changed DNA methylation; results in aberrant expression of genes involved in developmental processes. 1 Publication1
Natural variantiVAR_077522365Y → C in TBRS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs144062658Ensembl.1
Natural variantiVAR_077523529D → N in TBRS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs962805778Ensembl.1
Natural variantiVAR_071464532G → S in TBRS; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs951361433Ensembl.1
Natural variantiVAR_071465548M → K in TBRS; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs587777509EnsemblClinVar.1
Natural variantiVAR_071466549C → R in TBRS; somatic mutation. 1 Publication1
Natural variantiVAR_071467648L → P in TBRS; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs587777507EnsemblClinVar.1
Natural variantiVAR_067234699G → D in a patient with chronic myelomonocytic leukemia. 1 PublicationCorresponds to variant dbSNP:rs761064473Ensembl.1
Natural variantiVAR_071468700P → L in TBRS; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs772368909Ensembl.1
Natural variantiVAR_067235731Missing in a patient with chronic myelomonocytic leukemia. 1 Publication1
Natural variantiVAR_071469749R → C in TBRS; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs754613602Ensembl.1
Natural variantiVAR_077524771R → Q in TBRS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs757823678EnsemblClinVar.1
Natural variantiVAR_077525778V → G in TBRS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs979932565Ensembl.1
Natural variantiVAR_071470838N → D in TBRS; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs961377711Ensembl.1
Natural variantiVAR_067236882R → C in TBRS and AML; somatic variant in AML. 4 PublicationsCorresponds to variant dbSNP:rs377577594EnsemblClinVar.1
Natural variantiVAR_067237882R → H in TBRS and AML; somatic variant in AML. 4 PublicationsCorresponds to variant dbSNP:rs147001633EnsemblClinVar.1
Natural variantiVAR_067238882R → P in a patient with chronic myelomonocytic leukemia; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs147001633EnsemblClinVar.1
Natural variantiVAR_071471902F → S in TBRS; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs587777510EnsemblClinVar.1
Natural variantiVAR_071472904P → L in TBRS; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs149095705EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0462541 – 213MPAMP…RWKRE → MGILERVVRRNGRVDRSLKD ECDT in isoform 2. 1 PublicationAdd BLAST213
Alternative sequenceiVSP_040998151 – 166KEQKE…KMEGS → ESSAPGAASSGPTSIP in isoform 3. 1 PublicationAdd BLAST16
Alternative sequenceiVSP_040999167 – 912Missing in isoform 3. 1 PublicationAdd BLAST746

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000264709; ENSP00000264709; ENSG00000119772 [Q9Y6K1-1]
ENST00000321117; ENSP00000324375; ENSG00000119772 [Q9Y6K1-1]
ENST00000380746; ENSP00000370122; ENSG00000119772 [Q9Y6K1-2]
ENST00000406659; ENSP00000384852; ENSG00000119772 [Q9Y6K1-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		1788

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:1788

UCSC genome browser

More...UCSCi		uc002rgb.5, human [Q9Y6K1-1]

Keywords - Coding sequence diversityi

Alternative promoter usage, Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
CCDSiCCDS1718.2 [Q9Y6K1-2]
CCDS33157.1 [Q9Y6K1-1]
CCDS46232.1 [Q9Y6K1-3]
RefSeqiNP_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:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2QRVX-ray2.89A/D/E/H627-912[»]
3A1AX-ray2.30A476-614[»]
3A1BX-ray2.29A476-614[»]
3LLRX-ray2.30A/B/C/D/E275-427[»]
3SVMX-ray2.31P40-53[»]
4QBQX-ray2.41A/C479-610[»]
4QBRX-ray1.90A/C476-611[»]
4QBSX-ray1.80A476-611[»]
4U7PX-ray3.82A455-912[»]
4U7TX-ray2.90A/C476-912[»]
5YX2X-ray2.65A/D628-912[»]
6BRRX-ray2.97A/D628-912[»]
6F57X-ray3.10A/D628-912[»]
6PA7electron microscopy2.94K/P224-912[»]
6W89X-ray2.50A/D/G/J628-912[»]
6W8BX-ray2.40A/D/H/K628-912[»]
6W8DX-ray2.60A/D628-912[»]
6W8JX-ray2.44A/D628-912[»]
SMRiQ9Y6K1
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi108125, 69 interactors
ComplexPortaliCPX-944, DNA (cytosine-5)-methyltransferase 3A complex
CORUMiQ9Y6K1
DIPiDIP-38004N
IntActiQ9Y6K1, 35 interactors
MINTiQ9Y6K1
STRINGi9606.ENSP00000264709

Chemistry databases

BindingDBiQ9Y6K1
ChEMBLiCHEMBL1992
DrugBankiDB01262, Decitabine
DB00721, Procaine
DrugCentraliQ9Y6K1

Protein family/group databases

REBASEi4119, M.HsaDnmt3A

PTM databases

iPTMnetiQ9Y6K1
PhosphoSitePlusiQ9Y6K1

Genetic variation databases

BioMutaiDNMT3A
DMDMi166215081

Proteomic databases

EPDiQ9Y6K1
jPOSTiQ9Y6K1
MassIVEiQ9Y6K1
PaxDbiQ9Y6K1
PeptideAtlasiQ9Y6K1
PRIDEiQ9Y6K1
ProteomicsDBi19854
86709 [Q9Y6K1-1]
86710 [Q9Y6K1-2]
86711 [Q9Y6K1-3]

Protocols and materials databases

ABCD curated depository of sequenced antibodies

More...ABCDi		Q9Y6K1, 1 sequenced antibody

Antibodypedia a portal for validated antibodies

More...Antibodypediai		4006, 976 antibodies

The DNASU plasmid repository

More...DNASUi		1788

Genome annotation databases

EnsembliENST00000264709; ENSP00000264709; ENSG00000119772 [Q9Y6K1-1]
ENST00000321117; ENSP00000324375; ENSG00000119772 [Q9Y6K1-1]
ENST00000380746; ENSP00000370122; ENSG00000119772 [Q9Y6K1-2]
ENST00000406659; ENSP00000384852; ENSG00000119772 [Q9Y6K1-3]
GeneIDi1788
KEGGihsa:1788
UCSCiuc002rgb.5, human [Q9Y6K1-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		1788
DisGeNETi1788

GeneCards: human genes, protein and diseases

More...GeneCardsi		DNMT3A
HGNCiHGNC:2978, DNMT3A
HPAiENSG00000119772, Low tissue specificity
MalaCardsiDNMT3A
MIMi601626, phenotype
602769, gene
615879, phenotype
618724, phenotype
neXtProtiNX_Q9Y6K1
OpenTargetsiENSG00000119772
Orphaneti276621, Sporadic pheochromocytoma/secreting paraganglioma
404443, Tall stature-intellectual disability-facial dysmorphism syndrome
PharmGKBiPA27445
VEuPathDBiHostDB:ENSG00000119772.16

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QR6U, Eukaryota
GeneTreeiENSGT00940000155459
HOGENOMiCLU_121732_0_0_1
InParanoidiQ9Y6K1
OMAiSVXVASS
OrthoDBi1015783at2759
PhylomeDBiQ9Y6K1
TreeFamiTF329039

Enzyme and pathway databases

BRENDAi2.1.1.37, 2681
PathwayCommonsiQ9Y6K1
ReactomeiR-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
SIGNORiQ9Y6K1

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		1788, 7 hits in 1001 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		DNMT3A, human
EvolutionaryTraceiQ9Y6K1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		1788
PharosiQ9Y6K1, Tclin

Protein Ontology

More...PROi		PR:Q9Y6K1
RNActiQ9Y6K1, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000119772, Expressed in female gonad and 191 other tissues
ExpressionAtlasiQ9Y6K1, baseline and differential
GenevisibleiQ9Y6K1, HS

Family and domain databases

CDDicd11729, ADDz_Dnmt3a, 1 hit
IDEALiIID00336
InterProiView 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
PANTHERiPTHR23068:SF10, PTHR23068:SF10, 1 hit
PfamiView protein in Pfam
PF17980, ADD_DNMT3, 1 hit
PF00145, DNA_methylase, 1 hit
PF00855, PWWP, 1 hit
SMARTiView protein in SMART
SM00293, PWWP, 1 hit
SUPFAMiSSF53335, SSF53335, 1 hit
PROSITEiView protein in PROSITE
PS51533, ADD, 1 hit
PS00094, C5_MTASE_1, 1 hit
PS50812, PWWP, 1 hit
PS51679, SAM_MT_C5, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDNM3A_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9Y6K1
Secondary accession number(s): E9PEB8
, Q86TE8, Q86XF5, Q8IZV0, Q8WXU9
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated 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.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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