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Entry version 198 (16 Oct 2019)
Sequence version 4 (08 Mar 2011)
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Protein

Histone-lysine N-methyltransferase EHMT1

Gene

EHMT1

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

Histone methyltransferase that specifically mono- and dimethylates 'Lys-9' of histone H3 (H3K9me1 and H3K9me2, respectively) in euchromatin. H3K9me represents a specific tag for epigenetic transcriptional repression by recruiting HP1 proteins to methylated histones. Also weakly methylates 'Lys-27' of histone H3 (H3K27me). Also required for DNA methylation, the histone methyltransferase activity is not required for DNA methylation, suggesting that these 2 activities function independently. Probably targeted to histone H3 by different DNA-binding proteins like E2F6, MGA, MAX and/or DP1. During G0 phase, it probably contributes to silencing of MYC- and E2F-responsive genes, suggesting a role in G0/G1 transition in cell cycle. In addition to the histone methyltransferase activity, also methylates non-histone proteins: mediates dimethylation of 'Lys-373' of p53/TP53.2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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_section">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

Methyltransferase activity is inhibited by BIX-01294. Efficiently inhibited by compound E72, a BIX-01294 derivative in which the diazepane ring and the benzyl are replaced with a 3-dimethylaminopropyl and a 5-aminopentyl group at sites B and C, respectively.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi1062Zinc 11
Metal bindingi1062Zinc 21
Metal bindingi1064Zinc 11
Metal bindingi1068Zinc 11
Metal bindingi1068Zinc 31
Metal bindingi1073Zinc 11
Metal bindingi1075Zinc 21
Metal bindingi1105Zinc 21
Metal bindingi1105Zinc 31
Metal bindingi1109Zinc 21
Metal bindingi1111Zinc 31
Metal bindingi1115Zinc 31
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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 sitei1155Histone H3K9me2 Publications1
Binding sitei1173S-adenosyl-L-methionine1
Metal bindingi1203Zinc 41
Metal bindingi1256Zinc 41
Binding sitei1257S-adenosyl-L-methionine; via amide nitrogen1
Metal bindingi1258Zinc 41
Metal bindingi1263Zinc 41

<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

<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, Methyltransferase, Transferase
LigandMetal-binding, S-adenosyl-L-methionine, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-2559582 Senescence-Associated Secretory Phenotype (SASP)
R-HSA-3214841 PKMTs methylate histone lysines
R-HSA-6804760 Regulation of TP53 Activity through Methylation
R-HSA-8953750 Transcriptional Regulation by E2F6

<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_and_taxonomy_section">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:
Histone-lysine N-methyltransferase EHMT1 (EC:2.1.1.-, EC:2.1.1.43)
Alternative name(s):
Euchromatic histone-lysine N-methyltransferase 1
Short name:
Eu-HMTase1
G9a-like protein 1
Short name:
GLP
Short name:
GLP1
Histone H3-K9 methyltransferase 5
Short name:
H3-K9-HMTase 5
Lysine N-methyltransferase 1D
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:EHMT1
Synonyms:EUHMTASE1, GLP, KIAA1876, KMT1D
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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 9

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:24650 EHMT1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
607001 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9H9B1

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Chromosome, 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

Kleefstra syndrome 1 (KLEFS1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry (PubMed:16826528). The syndrome can be either caused by intragenic EHMT1 mutations leading to haploinsufficiency of the EHMT1 gene or by a submicroscopic 9q34.3 deletion. Although it is not known if and to what extent other genes in the 9q34.3 region contribute to the syndrome observed in deletion cases, EHMT1 seems to be the major determinant of the core disease phenotype (PubMed:19264732).2 Publications
Disease descriptionA form of Kleefstra syndrome, an autosomal dominant disease characterized by variable mental retardation, psychomotor developmental delay, seizures, behavioral abnormalities, and facial dysmorphisms. KLEFS1 patients additionally manifest brachy(micro)cephaly, congenital heart defects, and urogenital defects.
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_0691831075C → Y in KLEFS1. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'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>Mutagenesisi905E → A: Abolishes binding to histone H3K9me. 1 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
79813

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
EHMT1

MalaCards human disease database

More...
MalaCardsi
EHMT1
MIMi610253 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000181090

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

More...
Orphaneti
96147 Kleefstra syndrome due to 9q34 microdeletion
261652 Kleefstra syndrome due to a point mutation

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134941393

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9H9B1

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL6031

IUPHAR/BPS Guide to PHARMACOLOGY

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GuidetoPHARMACOLOGYi
2651

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
EHMT1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
325511404

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved1 Publication
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001860672 – 1298Histone-lysine N-methyltransferase EHMT1Add BLAST1297

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 residuei2N-acetylalanine1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">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-linki22Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources
Cross-linki22Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Cross-linki190Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki199Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki231Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki234Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki317Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki327Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki432Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei435PhosphoserineCombined sources1
Modified residuei483PhosphoserineCombined sources1
Cross-linki492Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki559Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki644Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki659Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki684Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki731Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei1004PhosphoserineCombined sources1
Modified residuei1048PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9H9B1

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9H9B1

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9H9B1

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9H9B1

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

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PaxDbi
Q9H9B1

PeptideAtlas

More...
PeptideAtlasi
Q9H9B1

PRoteomics IDEntifications database

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PRIDEi
Q9H9B1

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
81307 [Q9H9B1-1]
81308 [Q9H9B1-2]
81309 [Q9H9B1-3]
81310 [Q9H9B1-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9H9B1

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

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PhosphoSitePlusi
Q9H9B1

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q9H9B1

<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

Widely expressed.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000181090 Expressed in 199 organ(s), highest expression level in testis

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9H9B1 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9H9B1 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA060022

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heterodimer; heterodimerizes with EHMT2.

Interacts with WIZ and EHMT2. Part of the E2F6.com-1 complex in G0 phase composed of E2F6, MGA, MAX, TFDP1, CBX3, BAT8, EHMT1, RING1, RNF2, MBLR, L3MBTL2 and YAF2.

Interacts (via ANK repeats) with RELA (when monomethylated at 'Lys-310').

Interacts with MPHOSPH8.

Interacts with CDYL.

Interacts with REST only in the presence of CDYL.

Part of a complex containing at least CDYL, REST, WIZ, SETB1, EHMT1 and EHMT2.

8 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
122908, 57 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9H9B1

Database of interacting proteins

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DIPi
DIP-34585N

Protein interaction database and analysis system

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IntActi
Q9H9B1, 43 interactors

Molecular INTeraction database

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MINTi
Q9H9B1

STRING: functional protein association networks

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STRINGi
9606.ENSP00000417980

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
Q9H9B1

<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

11298
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

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SMRi
Q9H9B1

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
Q9H9B1

<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 ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati737 – 766ANK 1Add BLAST30
Repeati772 – 801ANK 2Add BLAST30
Repeati805 – 834ANK 3Add BLAST30
Repeati838 – 868ANK 4Add BLAST31
Repeati872 – 901ANK 5Add BLAST30
Repeati905 – 934ANK 6Add BLAST30
Repeati938 – 967ANK 7Add BLAST30
Repeati971 – 1004ANK 8Add BLAST34
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">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>Domaini1060 – 1123Pre-SETPROSITE-ProRule annotationAdd BLAST64
Domaini1126 – 1243SETPROSITE-ProRule annotationAdd BLAST118

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>Regioni905 – 907Histone H3K9me binding3
Regioni1136 – 1138S-adenosyl-L-methionine binding3
Regioni1162 – 1181Interaction with histone H3Add BLAST20
Regioni1200 – 1201S-adenosyl-L-methionine binding2
Regioni1242 – 1245Interaction with histone H34

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi406 – 409Poly-Glu4
Compositional biasi442 – 449Poly-Arg8
Compositional biasi1292 – 1295Poly-Ala4

<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 ANK repeats recognize and bind RELA subunit of NF-kappa-B, when RELA is monomethylated at 'Lys-310' (By similarity). They also specifically recognize and bind H3K9me1 and H3K9me2.By similarity1 Publication
The SET domain mediates interaction with WIZ.1 Publication
In the pre-SET domain, Cys residues bind 3 zinc ions that are arranged in a triangular cluster; some of these Cys residues contribute to the binding of two zinc ions within the cluster.1 Publication

<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 V-like SAM-binding methyltransferase superfamily.PROSITE-ProRule annotation

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1082 Eukaryota
COG0666 LUCA
COG2940 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000156002

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9H9B1

KEGG Orthology (KO)

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KOi
K11420

Database of Orthologous Groups

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OrthoDBi
753093at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9H9B1

TreeFam database of animal gene trees

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TreeFami
TF106443

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.25.40.20, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR038035 EHMT1
IPR007728 Pre-SET_dom
IPR001214 SET_dom

The PANTHER Classification System

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PANTHERi
PTHR46307:SF2 PTHR46307:SF2, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF12796 Ank_2, 2 hits
PF05033 Pre-SET, 1 hit
PF00856 SET, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR01415 ANKYRIN

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00248 ANK, 7 hits
SM00468 PreSET, 1 hit
SM00317 SET, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48403 SSF48403, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 5 hits
PS50867 PRE_SET, 1 hit
PS50280 SET, 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_length">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 (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 <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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: Experimental confirmation may be lacking for some isoforms.

This entry has 4 described isoforms and 22 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9H9B1-1) [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
MAAADAEAVP ARGEPQQDCC VKTELLGEET PMAADEGSAE KQAGEAHMAA
60 70 80 90 100
DGETNGSCEN SDASSHANAA KHTQDSARVN PQDGTNTLTR IAENGVSERD
110 120 130 140 150
SEAAKQNHVT ADDFVQTSVI GSNGYILNKP ALQAQPLRTT STLASSLPGH
160 170 180 190 200
AAKTLPGGAG KGRTPSAFPQ TPAAPPATLG EGSADTEDRK LPAPGADVKV
210 220 230 240 250
HRARKTMPKS VVGLHAASKD PREVREARDH KEPKEEINKN ISDFGRQQLL
260 270 280 290 300
PPFPSLHQSL PQNQCYMATT KSQTACLPFV LAAAVSRKKK RRMGTYSLVP
310 320 330 340 350
KKKTKVLKQR TVIEMFKSIT HSTVGSKGEK DLGASSLHVN GESLEMDSDE
360 370 380 390 400
DDSEELEEDD GHGAEQAAAF PTEDSRTSKE SMSEADRAQK MDGESEEEQE
410 420 430 440 450
SVDTGEEEEG GDESDLSSES SIKKKFLKRK GKTDSPWIKP ARKRRRRSRK
460 470 480 490 500
KPSGALGSES YKSSAGSAEQ TAPGDSTGYM EVSLDSLDLR VKGILSSQAE
510 520 530 540 550
GLANGPDVLE TDGLQEVPLC SCRMETPKSR EITTLANNQC MATESVDHEL
560 570 580 590 600
GRCTNSVVKY ELMRPSNKAP LLVLCEDHRG RMVKHQCCPG CGYFCTAGNF
610 620 630 640 650
MECQPESSIS HRFHKDCASR VNNASYCPHC GEESSKAKEV TIAKADTTST
660 670 680 690 700
VTPVPGQEKG SALEGRADTT TGSAAGPPLS EDDKLQGAAS HVPEGFDPTG
710 720 730 740 750
PAGLGRPTPG LSQGPGKETL ESALIALDSE KPKKLRFHPK QLYFSARQGE
760 770 780 790 800
LQKVLLMLVD GIDPNFKMEH QNKRSPLHAA AEAGHVDICH MLVQAGANID
810 820 830 840 850
TCSEDQRTPL MEAAENNHLE AVKYLIKAGA LVDPKDAEGS TCLHLAAKKG
860 870 880 890 900
HYEVVQYLLS NGQMDVNCQD DGGWTPMIWA TEYKHVDLVK LLLSKGSDIN
910 920 930 940 950
IRDNEENICL HWAAFSGCVD IAEILLAAKC DLHAVNIHGD SPLHIAAREN
960 970 980 990 1000
RYDCVVLFLS RDSDVTLKNK EGETPLQCAS LNSQVWSALQ MSKALQDSAP
1010 1020 1030 1040 1050
DRPSPVERIV SRDIARGYER IPIPCVNAVD SEPCPSNYKY VSQNCVTSPM
1060 1070 1080 1090 1100
NIDRNITHLQ YCVCIDDCSS SNCMCGQLSM RCWYDKDGRL LPEFNMAEPP
1110 1120 1130 1140 1150
LIFECNHACS CWRNCRNRVV QNGLRARLQL YRTRDMGWGV RSLQDIPPGT
1160 1170 1180 1190 1200
FVCEYVGELI SDSEADVREE DSYLFDLDNK DGEVYCIDAR FYGNVSRFIN
1210 1220 1230 1240 1250
HHCEPNLVPV RVFMAHQDLR FPRIAFFSTR LIEAGEQLGF DYGERFWDIK
1260 1270 1280 1290
GKLFSCRCGS PKCRHSSAAL AQRQASAAQE AQEDGLPDTS SAAAADPL
Length:1,298
Mass (Da):141,466
Last modified:March 8, 2011 - 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:i071574F3FB3D371E
GO
Isoform 2 (identifier: Q9H9B1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     8-66: AVPARGEPQQ...SCENSDASSH → RHLWLPMKAQ...GSTPRMAPTH
     67-1298: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:66
Mass (Da):7,540
Checksum:i4882B9806F478473
GO
Isoform 3 (identifier: Q9H9B1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1181-1184: DGEV → ISSA
     1185-1298: Missing.

Show »
Length:1,184
Mass (Da):128,689
Checksum:i1382C5327D3579D7
GO
Isoform 4 (identifier: Q9H9B1-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     795-808: AGANIDTCSEDQRT → FCRLGSPRSRGCLW
     809-1298: Missing.

Show »
Length:808
Mass (Da):86,704
Checksum:i2CA1BA8DACAE22A8
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 22 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1B0GV09A0A1B0GV09_HUMAN
Histone-lysine N-methyltransferase ...
EHMT1
1,267Annotation 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>
A0A1B0GU48A0A1B0GU48_HUMAN
Histone-lysine N-methyltransferase ...
EHMT1
981Annotation 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>
A0A0D9SEQ1A0A0D9SEQ1_HUMAN
Histone-lysine N-methyltransferase ...
EHMT1
432Annotation 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>
A0A0D9SER3A0A0D9SER3_HUMAN
Histone-lysine N-methyltransferase ...
EHMT1
137Annotation 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>
A0A0D9SFG7A0A0D9SFG7_HUMAN
Histone-lysine N-methyltransferase ...
EHMT1
139Annotation 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>
A0A0D9SFS4A0A0D9SFS4_HUMAN
Histone-lysine N-methyltransferase ...
EHMT1
134Annotation 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>
A0A0D9SFX4A0A0D9SFX4_HUMAN
Histone-lysine N-methyltransferase ...
EHMT1
268Annotation 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>
A0A1B0GUD1A0A1B0GUD1_HUMAN
Histone-lysine N-methyltransferase ...
EHMT1
556Annotation 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>
A0A1B0GVZ8A0A1B0GVZ8_HUMAN
Histone-lysine N-methyltransferase ...
EHMT1
543Annotation 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>
A0A0C4DGF8A0A0C4DGF8_HUMAN
Histone-lysine N-methyltransferase ...
EHMT1
803Annotation 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>
There are more potential isoformsShow all

<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 BAB14321 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated
The sequence CAD28534 differs from that shown. Intron retention.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti555N → D in AAH47504 (PubMed:15489334).Curated1
Sequence conflicti561E → G in AAM09024 (PubMed:14702039).Curated1
Sequence conflicti561E → G in BAB14321 (PubMed:15164053).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03634543A → V in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs79514677Ensembl.1
Natural variantiVAR_027642388A → T. Corresponds to variant dbSNP:rs11137198EnsemblClinVar.1
Natural variantiVAR_0691831075C → Y in KLEFS1. 1 Publication1
Natural variantiVAR_0363461173Y → F in a breast cancer sample; somatic mutation. 1 Publication1

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_0022228 – 66AVPAR…DASSH → RHLWLPMKAQQRNRQERPTW LRTVRPMGLVKTAMPAVMQM LQSTLRTAQGSTPRMAPTH in isoform 2. 1 PublicationAdd BLAST59
Alternative sequenceiVSP_00222367 – 1298Missing in isoform 2. 1 PublicationAdd BLAST1232
Alternative sequenceiVSP_040717795 – 808AGANI…EDQRT → FCRLGSPRSRGCLW in isoform 4. 1 PublicationAdd BLAST14
Alternative sequenceiVSP_040718809 – 1298Missing in isoform 4. 1 PublicationAdd BLAST490
Alternative sequenceiVSP_0022241181 – 1184DGEV → ISSA in isoform 3. 1 Publication4
Alternative sequenceiVSP_0022251185 – 1298Missing in isoform 3. 1 PublicationAdd BLAST114

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
AK022941 mRNA Translation: BAB14321.1 Sequence problems.
AL590627 Genomic DNA No translation available.
AL611925 Genomic DNA No translation available.
BC011608 mRNA Translation: AAH11608.2
BC047504 mRNA Translation: AAH47504.1
AY083210 mRNA Translation: AAM09024.1
AB028932 mRNA Translation: BAB56104.1
AB058779 mRNA Translation: BAB47505.2
AL713772 mRNA Translation: CAD28534.1 Sequence problems.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS56595.1 [Q9H9B1-4]
CCDS7050.2 [Q9H9B1-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001138999.1, NM_001145527.1 [Q9H9B1-4]
NP_079033.4, NM_024757.4 [Q9H9B1-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000371394; ENSP00000485945; ENSG00000181090 [Q9H9B1-2]
ENST00000460843; ENSP00000417980; ENSG00000181090 [Q9H9B1-1]
ENST00000462484; ENSP00000417328; ENSG00000181090 [Q9H9B1-4]

Database of genes from NCBI RefSeq genomes

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GeneIDi
79813

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:79813

UCSC genome browser

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UCSCi
uc004coa.3 human [Q9H9B1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
AK022941 mRNA Translation: BAB14321.1 Sequence problems.
AL590627 Genomic DNA No translation available.
AL611925 Genomic DNA No translation available.
BC011608 mRNA Translation: AAH11608.2
BC047504 mRNA Translation: AAH47504.1
AY083210 mRNA Translation: AAM09024.1
AB028932 mRNA Translation: BAB56104.1
AB058779 mRNA Translation: BAB47505.2
AL713772 mRNA Translation: CAD28534.1 Sequence problems.
CCDSiCCDS56595.1 [Q9H9B1-4]
CCDS7050.2 [Q9H9B1-1]
RefSeqiNP_001138999.1, NM_001145527.1 [Q9H9B1-4]
NP_079033.4, NM_024757.4 [Q9H9B1-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2IGQX-ray2.00A/B982-1266[»]
2RFIX-ray1.59A/B982-1266[»]
3B7BX-ray2.99A/B765-999[»]
3B95X-ray2.99A/B765-999[»]
3FPDX-ray2.40A/B1006-1266[»]
3HNAX-ray1.50A/B982-1266[»]
3MO0X-ray2.78A/B982-1266[»]
3MO2X-ray2.49A/B/C/D982-1266[»]
3MO5X-ray2.14A/B/C/D982-1266[»]
3SW9X-ray3.05A/B982-1266[»]
3SWCX-ray2.33A/B982-1266[»]
4I51X-ray1.90A/B982-1266[»]
5TTGX-ray1.66A/B982-1266[»]
5TUZX-ray1.95A/B1006-1266[»]
5V9JX-ray1.74A/B982-1266[»]
5VSDX-ray1.85A/B1006-1266[»]
5VSFX-ray1.70A/B1006-1266[»]
6BY9X-ray2.30A672-999[»]
6MBOX-ray1.59A/B1006-1266[»]
6MBPX-ray1.95A/B1006-1266[»]
SMRiQ9H9B1
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi122908, 57 interactors
CORUMiQ9H9B1
DIPiDIP-34585N
IntActiQ9H9B1, 43 interactors
MINTiQ9H9B1
STRINGi9606.ENSP00000417980

Chemistry databases

BindingDBiQ9H9B1
ChEMBLiCHEMBL6031
GuidetoPHARMACOLOGYi2651

PTM databases

iPTMnetiQ9H9B1
PhosphoSitePlusiQ9H9B1
SwissPalmiQ9H9B1

Polymorphism and mutation databases

BioMutaiEHMT1
DMDMi325511404

Proteomic databases

EPDiQ9H9B1
jPOSTiQ9H9B1
MassIVEiQ9H9B1
MaxQBiQ9H9B1
PaxDbiQ9H9B1
PeptideAtlasiQ9H9B1
PRIDEiQ9H9B1
ProteomicsDBi81307 [Q9H9B1-1]
81308 [Q9H9B1-2]
81309 [Q9H9B1-3]
81310 [Q9H9B1-4]

Genome annotation databases

EnsembliENST00000371394; ENSP00000485945; ENSG00000181090 [Q9H9B1-2]
ENST00000460843; ENSP00000417980; ENSG00000181090 [Q9H9B1-1]
ENST00000462484; ENSP00000417328; ENSG00000181090 [Q9H9B1-4]
GeneIDi79813
KEGGihsa:79813
UCSCiuc004coa.3 human [Q9H9B1-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
79813
DisGeNETi79813

GeneCards: human genes, protein and diseases

More...
GeneCardsi
EHMT1
GeneReviewsiEHMT1
HGNCiHGNC:24650 EHMT1
HPAiHPA060022
MalaCardsiEHMT1
MIMi607001 gene
610253 phenotype
neXtProtiNX_Q9H9B1
OpenTargetsiENSG00000181090
Orphaneti96147 Kleefstra syndrome due to 9q34 microdeletion
261652 Kleefstra syndrome due to a point mutation
PharmGKBiPA134941393

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1082 Eukaryota
COG0666 LUCA
COG2940 LUCA
GeneTreeiENSGT00940000156002
InParanoidiQ9H9B1
KOiK11420
OrthoDBi753093at2759
PhylomeDBiQ9H9B1
TreeFamiTF106443

Enzyme and pathway databases

ReactomeiR-HSA-2559582 Senescence-Associated Secretory Phenotype (SASP)
R-HSA-3214841 PKMTs methylate histone lysines
R-HSA-6804760 Regulation of TP53 Activity through Methylation
R-HSA-8953750 Transcriptional Regulation by E2F6

Miscellaneous databases

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

More...
ChiTaRSi
EHMT1 human
EvolutionaryTraceiQ9H9B1

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
EHMT1

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

More...
GenomeRNAii
79813
PharosiQ9H9B1

Protein Ontology

More...
PROi
PR:Q9H9B1

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000181090 Expressed in 199 organ(s), highest expression level in testis
ExpressionAtlasiQ9H9B1 baseline and differential
GenevisibleiQ9H9B1 HS

Family and domain databases

Gene3Di1.25.40.20, 1 hit
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR038035 EHMT1
IPR007728 Pre-SET_dom
IPR001214 SET_dom
PANTHERiPTHR46307:SF2 PTHR46307:SF2, 1 hit
PfamiView protein in Pfam
PF12796 Ank_2, 2 hits
PF05033 Pre-SET, 1 hit
PF00856 SET, 1 hit
PRINTSiPR01415 ANKYRIN
SMARTiView protein in SMART
SM00248 ANK, 7 hits
SM00468 PreSET, 1 hit
SM00317 SET, 1 hit
SUPFAMiSSF48403 SSF48403, 1 hit
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 5 hits
PS50867 PRE_SET, 1 hit
PS50280 SET, 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 nameiEHMT1_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: Q9H9B1
Secondary accession number(s): B1AQ58
, B1AQ59, Q86X08, Q8TCN7, Q96F53, Q96JF1, Q96KH4
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 15, 2002
Last sequence update: March 8, 2011
Last modified: October 16, 2019
This is version 198 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, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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