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Entry version 137 (07 Oct 2020)
Sequence version 2 (16 Apr 2014)
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Protein

Histone-lysine N-methyltransferase SETMAR

Gene

SETMAR

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

Protein derived from the fusion of a methylase with the transposase of an Hsmar1 transposon that plays a role in DNA double-strand break repair, stalled replication fork restart and DNA integration. DNA-binding protein, it is indirectly recruited to sites of DNA damage through protein-protein interactions. Has also kept a sequence-specific DNA-binding activity recognizing the 19-mer core of the 5'-terminal inverted repeats (TIRs) of the Hsmar1 element and displays a DNA nicking and end joining activity (PubMed:16332963, PubMed:16672366, PubMed:17877369, PubMed:17403897, PubMed:18263876, PubMed:22231448, PubMed:24573677, PubMed:20521842). In parallel, has a histone methyltransferase activity and methylates 'Lys-4' and 'Lys-36' of histone H3. Specifically mediates dimethylation of H3 'Lys-36' at sites of DNA double-strand break and may recruit proteins required for efficient DSB repair through non-homologous end-joining (PubMed:16332963, PubMed:21187428, PubMed:22231448). Also regulates replication fork processing, promoting replication fork restart and regulating DNA decatenation through stimulation of the topoisomerase activity of TOP2A (PubMed:18790802, PubMed:20457750).1 Publication10 Publications

Miscellaneous

The mariner transposase region in only present in primates and appeared 40-58 million years ago, after the insertion of a transposon downstream of a preexisting SET gene, followed by the de novo exonization of previously non-coding sequence and the creation of a new intron.

<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 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Mg2+Note: Binds 1 Mg2+ ion per subunit.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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 bindingi75Zinc 11
Metal bindingi75Zinc 21
Metal bindingi77Zinc 11
Metal bindingi82Zinc 11
Metal bindingi82Zinc 31
Metal bindingi87Zinc 11
Metal bindingi89Zinc 21
Metal bindingi118Zinc 21
Metal bindingi118Zinc 31
Metal bindingi122Zinc 21
Metal bindingi124Zinc 31
Metal bindingi128Zinc 31
<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 sitei192S-adenosyl-L-methionine1
Binding sitei220S-adenosyl-L-methioninePROSITE-ProRule annotation1
Metal bindingi226Zinc 41
Metal bindingi287Zinc 41
Metal bindingi289Zinc 41
Metal bindingi294Zinc 41
Metal bindingi496Magnesium1
Metal bindingi588Magnesium1

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 and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi364 – 395H-T-H motifBy similarityAdd BLAST32
DNA bindingi428 – 448H-T-H motifAdd BLAST21

<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, DNA-binding, Endonuclease, Hydrolase, Methyltransferase, Multifunctional enzyme, Nuclease, Transferase
Biological processDNA damage, DNA repair
LigandMagnesium, Metal-binding, S-adenosyl-L-methionine, Zinc

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS10111-MONOMER

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q53H47

<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:
Histone-lysine N-methyltransferase SETMARCurated
Alternative name(s):
SET domain and mariner transposase fusion proteinCurated
Short name:
Metnase1 Publication
Including the following 2 domains:
Histone-lysine N-methyltransferaseCurated (EC:2.1.1.3571 Publication)
Transposon Hsmar1 transposase1 Publication (EC:3.1.-.-1 Publication)
<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:SETMARImported
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000170364.12

Human Gene Nomenclature Database

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HGNCi
HGNC:10762, SETMAR

Online Mendelian Inheritance in Man (OMIM)

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MIMi
609834, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q53H47

<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

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>Mutagenesisi223N → S: Reduces activity in double-strand break repair. 1 Publication1
Mutagenesisi261D → S: Reduces activity in double-strand break repair. 1 Publication1
Mutagenesisi445R → A: Abolishes TIR-specific DNA-binding. 1 Publication1
Mutagenesisi473F → K: Abolishes homodimerization and DNA-binding and reduces cleavage of single-stranded DNA. 1 Publication1
Mutagenesisi496D → A: Abolishes DNA cleavage. 1 Publication1
Mutagenesisi503D → S: Reduces activity in double-strand break repair. 1 Publication1
Mutagenesisi508S → A: Prevents phosphorylation. Impairs recruitment to damaged DNA and double-strand break repair. Impairs interaction with histone H3 and its methylation. Allows replication fork restart. 1 Publication1
Mutagenesisi623N → D or E: Loss of function in DNA repair. Altered DNA-binding properties. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
6419

Open Targets

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OpenTargetsi
ENSG00000170364

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA35680

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q53H47, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2189111

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SETMAR

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74740552

<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_00002595261 – 684Histone-lysine N-methyltransferase SETMARAdd BLAST684

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 residuei498N6-methyllysine1 Publication1
Modified residuei508Phosphoserine; by CHEK1Combined sources1 Publication1

<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

Methylated. Methylation regulates activity in DNA decatenation.1 Publication
Phosphorylated at Ser-508 by CHEK1 and dephosphorylated by protein phosphatase 2A/PP2A. Phosphorylation at Ser-508 is enhanced by DNA damage and promotes recruitment to damaged DNA. It stimulates DNA repair and impairs replication fork restart.1 Publication

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q53H47

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q53H47

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q53H47

MaxQB - The MaxQuant DataBase

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MaxQBi
Q53H47

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

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PaxDbi
Q53H47

PeptideAtlas

More...
PeptideAtlasi
Q53H47

PRoteomics IDEntifications database

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PRIDEi
Q53H47

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
17093
62493 [Q53H47-1]
62494 [Q53H47-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q53H47

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

More...
PhosphoSitePlusi
Q53H47

<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, with highest expression in placenta and ovary and lowest expression in skeletal muscle.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000170364, Expressed in body of uterus and 213 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q53H47, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q53H47, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000170364, 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

Homodimer (PubMed:20521842).

Interacts with PRPF19; required for SETMAR recruitment to damaged DNA sites (PubMed:18263876).

Interacts with PCNA (PubMed:20457750).

Interacts with TOP2A; stimulates TOP2A topoisomerase activity (PubMed:18790802, PubMed:20457750). May interact with RAD9A and/or RAD9B (PubMed:20457750).

4 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
112317, 18 interactors

Protein interaction database and analysis system

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IntActi
Q53H47, 10 interactors

Molecular INTeraction database

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MINTi
Q53H47

STRING: functional protein association networks

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STRINGi
9606.ENSP00000373354

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q53H47

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q53H47, 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

1684
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
Q53H47

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

More...
EvolutionaryTracei
Q53H47

<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>Domaini73 – 136Pre-SETPROSITE-ProRule annotationAdd BLAST64
Domaini139 – 263SETPROSITE-ProRule annotationAdd BLAST125
Domaini283 – 299Post-SETPROSITE-ProRule annotationAdd BLAST17

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>Regioni1 – 345Histone-lysine N-methyltransferaseAdd BLAST345
Regioni149 – 151S-adenosyl-L-methionine binding3
Regioni223 – 224S-adenosyl-L-methionine binding2
Regioni346 – 684Mariner transposase Hsmar1Add BLAST339

<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 mariner transposase Hsmar1 region mediates DNA-binding. It has retained some of the nucleases activity but has lost its transposase activity because the active site contains an Asn in position 610 instead of an Asp residue.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.

<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

In the N-terminal section; belongs to the class V-like SAM-binding methyltransferase superfamily.Curated
In the C-terminal section; belongs to the mariner transposase family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1082, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00440000033232

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_020840_3_3_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q53H47

KEGG Orthology (KO)

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KOi
K11433

Identification of Orthologs from Complete Genome Data

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OMAi
TCHEKWI

Database of Orthologous Groups

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OrthoDBi
753093at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q53H47

TreeFam database of animal gene trees

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TreeFami
TF352220

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR041426, Mos1_HTH
IPR003616, Post-SET_dom
IPR007728, Pre-SET_dom
IPR001214, SET_dom
IPR001888, Transposase_1
IPR036388, WH-like_DNA-bd_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF17906, HTH_48, 1 hit
PF05033, Pre-SET, 1 hit
PF00856, SET, 1 hit
PF01359, Transposase_1, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00468, PreSET, 1 hit
SM00317, SET, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50868, POST_SET, 1 hit
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%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 splicing. AlignAdd to basket

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

Isoform 1 (identifier: Q53H47-1) [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
MFAEAAKTTR PCGMAEFKEK PEAPTEQLDV ACGQENLPVG AWPPGAAPAP
60 70 80 90 100
FQYTPDHVVG PGADIDPTQI TFPGCICVKT PCLPGTCSCL RHGENYDDNS
110 120 130 140 150
CLRDIGSGGK YAEPVFECNV LCRCSDHCRN RVVQKGLQFH FQVFKTHKKG
160 170 180 190 200
WGLRTLEFIP KGRFVCEYAG EVLGFSEVQR RIHLQTKSDS NYIIAIREHV
210 220 230 240 250
YNGQVMETFV DPTYIGNIGR FLNHSCEPNL LMIPVRIDSM VPKLALFAAK
260 270 280 290 300
DIVPEEELSY DYSGRYLNLT VSEDKERLDH GKLRKPCYCG AKSCTAFLPF
310 320 330 340 350
DSSLYCPVEK SNISCGNEKE PSMCGSAPSV FPSCKRLTLE TMKMMLDKKQ
360 370 380 390 400
IRAIFLFEFK MGRKAAETTR NINNAFGPGT ANERTVQWWF KKFCKGDESL
410 420 430 440 450
EDEERSGRPS EVDNDQLRAI IEADPLTTTR EVAEELNVNH STVVRHLKQI
460 470 480 490 500
GKVKKLDKWV PHELTENQKN RRFEVSSSLI LRNHNEPFLD RIVTCDEKWI
510 520 530 540 550
LYDNRRRSAQ WLDQEEAPKH FPKPILHPKK VMVTIWWSAA GLIHYSFLNP
560 570 580 590 600
GETITSEKYA QEIDEMNQKL QRLQLALVNR KGPILLHDNA RPHVAQPTLQ
610 620 630 640 650
KLNELGYEVL PHPPYSPDLL PTNYHVFKHL NNFLQGKRFH NQQDAENAFQ
660 670 680
EFVESQSTDF YATGINQLIS RWQKCVDCNG SYFD
Length:684
Mass (Da):78,034
Last modified:April 16, 2014 - v2
<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:iBB9460455C0BDBFA
GO
Isoform 2 (identifier: Q53H47-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     341-365: TMKMMLDKKQIRAIFLFEFKMGRKA → VSLFSDKQLAPPYSGRQWLASFTSA
     366-684: Missing.

Show »
Length:365
Mass (Da):40,510
Checksum:iE1FFA86B6E63F8E4
GO
Isoform 3 (identifier: Q53H47-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     163-301: Missing.

Show »
Length:545
Mass (Da):62,124
Checksum:i8F570F8A67A495C7
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8WEU1F8WEU1_HUMAN
Histone-lysine N-methyltransferase ...
SETMAR
171Annotation score:

Annotation score:1 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>
F8WB33F8WB33_HUMAN
Histone-lysine N-methyltransferase ...
SETMAR
67Annotation score:

Annotation score:1 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>
B9ZVV8B9ZVV8_HUMAN
Histone-lysine N-methyltransferase ...
SETMAR
212Annotation score:

Annotation score:1 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 AAH11635 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAY29570 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAD96454 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.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 conflicti91R → H in BAG63636 (PubMed:14702039).Curated1
Sequence conflicti343K → E in AAC52010 (PubMed:9461395).Curated1
Sequence conflicti439N → D in AAC52010 (PubMed:9461395).Curated1
Sequence conflicti465T → S in AAC52010 (PubMed:9461395).Curated1
Sequence conflicti484H → N in AAC52010 (PubMed:9461395).Curated1
Sequence conflicti508S → P in AAC52010 (PubMed:9461395).Curated1
Sequence conflicti514Q → R in AAC52010 (PubMed:9461395).Curated1
Sequence conflicti525I → N in AAC52010 (PubMed:9461395).Curated1
Sequence conflicti528P → Q in AAC52010 (PubMed:9461395).Curated1
Sequence conflicti535I → V in AAC52010 (PubMed:9461395).Curated1
Sequence conflicti562E → Q in AAC52010 (PubMed:9461395).Curated1
Sequence conflicti567 – 568NQ → HR in AAC52010 (PubMed:9461395).Curated2
Sequence conflicti575L → P in AAC52010 (PubMed:9461395).Curated1
Sequence conflicti620L → S in AAC52010 (PubMed:9461395).Curated1
Sequence conflicti623N → D in AAC52010 (PubMed:9461395).Curated1
Sequence conflicti626V → F in AAC52010 (PubMed:9461395).Curated1
Sequence conflicti631N → D in AAC52010 (PubMed:9461395).Curated1
Sequence conflicti656Q → R in AAC52010 (PubMed:9461395).Curated1
Sequence conflicti667Q → K in AAC52010 (PubMed:9461395).Curated1

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_054089163 – 301Missing in isoform 3. CuratedAdd BLAST139
Alternative sequenceiVSP_021440341 – 365TMKMM…MGRKA → VSLFSDKQLAPPYSGRQWLA SFTSA in isoform 2. 2 PublicationsAdd BLAST25
Alternative sequenceiVSP_021441366 – 684Missing in isoform 2. 2 PublicationsAdd BLAST319

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AK222734 mRNA Translation: BAD96454.1 Different initiation.
AK302296 mRNA Translation: BAG63636.1
AC023483 Genomic DNA No translation available.
AC034191 Genomic DNA No translation available.
BC011635 mRNA Translation: AAH11635.1 Different initiation.
AY952295 mRNA Translation: AAY29570.1 Different initiation.
DQ341316 Genomic DNA Translation: ABC72087.1
U52077 Genomic DNA Translation: AAC52010.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS2563.2 [Q53H47-1]
CCDS58814.1 [Q53H47-3]
CCDS63528.1 [Q53H47-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001230652.1, NM_001243723.1 [Q53H47-3]
NP_001263254.1, NM_001276325.1 [Q53H47-2]
NP_001307606.1, NM_001320677.1
NP_001307607.1, NM_001320678.1
NP_006506.3, NM_006515.3 [Q53H47-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000358065; ENSP00000373354; ENSG00000170364 [Q53H47-1]
ENST00000425863; ENSP00000403145; ENSG00000170364 [Q53H47-3]
ENST00000430981; ENSP00000403000; ENSG00000170364 [Q53H47-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
6419

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:6419

UCSC genome browser

More...
UCSCi
uc003bpw.6, human [Q53H47-1]

Keywords - Coding sequence diversityi

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Protein Spotlight

Taming genes - Issue 167 of February 2015

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK222734 mRNA Translation: BAD96454.1 Different initiation.
AK302296 mRNA Translation: BAG63636.1
AC023483 Genomic DNA No translation available.
AC034191 Genomic DNA No translation available.
BC011635 mRNA Translation: AAH11635.1 Different initiation.
AY952295 mRNA Translation: AAY29570.1 Different initiation.
DQ341316 Genomic DNA Translation: ABC72087.1
U52077 Genomic DNA Translation: AAC52010.1
CCDSiCCDS2563.2 [Q53H47-1]
CCDS58814.1 [Q53H47-3]
CCDS63528.1 [Q53H47-2]
RefSeqiNP_001230652.1, NM_001243723.1 [Q53H47-3]
NP_001263254.1, NM_001276325.1 [Q53H47-2]
NP_001307606.1, NM_001320677.1
NP_001307607.1, NM_001320678.1
NP_006506.3, NM_006515.3 [Q53H47-1]

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
3BO5X-ray1.59A15-303[»]
3F2KX-ray1.85A/B459-684[»]
3K9JX-ray1.90A/B446-684[»]
3K9KX-ray2.55A/B446-684[»]
SMRiQ53H47
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi112317, 18 interactors
IntActiQ53H47, 10 interactors
MINTiQ53H47
STRINGi9606.ENSP00000373354

Chemistry databases

BindingDBiQ53H47
ChEMBLiCHEMBL2189111

PTM databases

iPTMnetiQ53H47
PhosphoSitePlusiQ53H47

Polymorphism and mutation databases

BioMutaiSETMAR
DMDMi74740552

Proteomic databases

EPDiQ53H47
jPOSTiQ53H47
MassIVEiQ53H47
MaxQBiQ53H47
PaxDbiQ53H47
PeptideAtlasiQ53H47
PRIDEiQ53H47
ProteomicsDBi17093
62493 [Q53H47-1]
62494 [Q53H47-2]

Protocols and materials databases

ABCD curated depository of sequenced antibodies

More...
ABCDi
Q53H47, 1 sequenced antibody

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
25143, 162 antibodies

Genome annotation databases

EnsembliENST00000358065; ENSP00000373354; ENSG00000170364 [Q53H47-1]
ENST00000425863; ENSP00000403145; ENSG00000170364 [Q53H47-3]
ENST00000430981; ENSP00000403000; ENSG00000170364 [Q53H47-2]
GeneIDi6419
KEGGihsa:6419
UCSCiuc003bpw.6, human [Q53H47-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
6419
DisGeNETi6419
EuPathDBiHostDB:ENSG00000170364.12

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SETMAR
HGNCiHGNC:10762, SETMAR
HPAiENSG00000170364, Low tissue specificity
MIMi609834, gene
neXtProtiNX_Q53H47
OpenTargetsiENSG00000170364
PharmGKBiPA35680

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1082, Eukaryota
GeneTreeiENSGT00440000033232
HOGENOMiCLU_020840_3_3_1
InParanoidiQ53H47
KOiK11433
OMAiTCHEKWI
OrthoDBi753093at2759
PhylomeDBiQ53H47
TreeFamiTF352220

Enzyme and pathway databases

BioCyciMetaCyc:HS10111-MONOMER
PathwayCommonsiQ53H47

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
6419, 5 hits in 873 CRISPR screens
EvolutionaryTraceiQ53H47

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
SETMAR

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

More...
GenomeRNAii
6419
PharosiQ53H47, Tbio

Protein Ontology

More...
PROi
PR:Q53H47
RNActiQ53H47, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000170364, Expressed in body of uterus and 213 other tissues
ExpressionAtlasiQ53H47, baseline and differential
GenevisibleiQ53H47, HS

Family and domain databases

Gene3Di1.10.10.10, 1 hit
InterProiView protein in InterPro
IPR041426, Mos1_HTH
IPR003616, Post-SET_dom
IPR007728, Pre-SET_dom
IPR001214, SET_dom
IPR001888, Transposase_1
IPR036388, WH-like_DNA-bd_sf
PfamiView protein in Pfam
PF17906, HTH_48, 1 hit
PF05033, Pre-SET, 1 hit
PF00856, SET, 1 hit
PF01359, Transposase_1, 1 hit
SMARTiView protein in SMART
SM00468, PreSET, 1 hit
SM00317, SET, 1 hit
PROSITEiView protein in PROSITE
PS50868, POST_SET, 1 hit
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 nameiSETMR_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: Q53H47
Secondary accession number(s): B4DY74
, E7EN68, Q13579, Q1G668, Q96F41
<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: October 31, 2006
Last sequence update: April 16, 2014
Last modified: October 7, 2020
This is version 137 of the entry and version 2 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
  5. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
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