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Entry version 176 (08 May 2019)
Sequence version 3 (15 Nov 2002)
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Protein

N-lysine methyltransferase KMT5A

Gene

KMT5A

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-lysine N-methyltransferase that monomethylates both histones and non-histone proteins. Specifically monomethylates 'Lys-20' of histone H4 (H4K20me1). H4K20me1 is enriched during mitosis and represents a specific tag for epigenetic transcriptional repression. Mainly functions in euchromatin regions, thereby playing a central role in the silencing of euchromatic genes. Required for cell proliferation, probably by contributing to the maintenance of proper higher-order structure of DNA during mitosis. Involved in chromosome condensation and proper cytokinesis. Nucleosomes are preferred as substrate compared to free histones. Mediates monomethylation of p53/TP53 at 'Lys-382', leading to repress p53/TP53-target genes. Plays a negative role in TGF-beta response regulation and a positive role in cell migration.8 Publications

Caution

It is uncertain whether Met-1 or Met-72 is the initiator.Curated

<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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ 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 sitei312S-adenosyl-L-methionine1

<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, Repressor, Transferase
Biological processCell cycle, Cell division, Mitosis, Transcription, Transcription regulation
LigandS-adenosyl-L-methionine

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
2.1.1.43 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-2299718 Condensation of Prophase Chromosomes
R-HSA-3214841 PKMTs methylate histone lysines
R-HSA-6804760 Regulation of TP53 Activity through Methylation

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q9NQR1

<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:
N-lysine methyltransferase KMT5ACurated (EC:2.1.1.-)
Alternative name(s):
H4-K20-HMTase KMT5A
Histone-lysine N-methyltransferase KMT5A (EC:2.1.1.43)
Lysine N-methyltransferase 5A
Lysine-specific methylase 5AImported
PR/SET domain-containing protein 07
Short name:
PR-Set7
Short name:
PR/SET07
SET domain-containing protein 8
<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:KMT5AImported
Synonyms:PRSET7, SET07, SET8, SETD8
<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 12

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29489 KMT5A

Online Mendelian Inheritance in Man (OMIM)

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MIMi
607240 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NQR1

<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_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>Mutagenesisi172K → Q: Inhibits the interaction with SIRT2. Increases the number of mitotic foci formation. Does not change methyltransferase activity. 1 Publication1
Mutagenesisi172K → R: Increases the interaction with SIRT2. Reduces the number of mitotic foci formation. Does not change methyltransferase activity. 1 Publication1
Mutagenesisi286Y → A or F: Strongly reduces affinity for histone H4 and abolishes methyltransferase activity. 1 Publication1
Mutagenesisi300E → A: Strongly reduces affinity for histone H4. 1 Publication1
Mutagenesisi311C → A: Strongly reduces affinity for histone H4. 1 Publication1
Mutagenesisi336R → G: Abolishes methyltransferase activity. 2 Publications1
Mutagenesisi340H → A: Strongly decreases methyltransferase activity. 1 Publication1
Mutagenesisi375Y → A: Strongly reduces affinity for histone H4 and methyltransferase activity. 1 Publication1
Mutagenesisi375Y → F: Alters methyltransferase activity, so that both monomethylation and dimethylation take place. 1 Publication1
Mutagenesisi379D → A or N: Abolishes histone H4 binding and methyltransferase activity. 4 Publications1
Mutagenesisi385 – 393Missing : Abolishes methyltransferase activity. 1 Publication9
Mutagenesisi388H → A or E: Strongly reduces affinity for histone H4. 1 Publication1
Mutagenesisi388H → F: Increases affinity for histone H4. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
387893

Open Targets

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OpenTargetsi
ENSG00000183955

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA143485616

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL1795176

IUPHAR/BPS Guide to PHARMACOLOGY

More...
GuidetoPHARMACOLOGYi
2704

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
KMT5A

Domain mapping of disease mutations (DMDM)

More...
DMDMi
25091219

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001860811 – 393N-lysine methyltransferase KMT5AAdd BLAST393

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 residuei100PhosphoserineCombined sources1
Modified residuei172N6-acetyllysine1 Publication1
Modified residuei181PhosphothreonineCombined sources1

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

Acetylated at Lys-172; does not change methyltransferase activity. Deacetylated at Lys-172 by SIRT2; does not change methyltransferase activity.1 Publication
Ubiquitinated and degraded by the DCX(DTL) complex.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein, Ubl conjugation

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9NQR1

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9NQR1

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

More...
PaxDbi
Q9NQR1

PeptideAtlas

More...
PeptideAtlasi
Q9NQR1

PRoteomics IDEntifications database

More...
PRIDEi
Q9NQR1

ProteomicsDB human proteome resource

More...
ProteomicsDBi
82171
82172 [Q9NQR1-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NQR1

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

More...
PhosphoSitePlusi
Q9NQR1

<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 the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Not detected during G1 phase. First detected during S through G2 phases, and peaks during mitosis (at protein level).1 Publication

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

By HCFC1 C-terminal chain, independently of HCFC1 N-terminal chain. Transiently induced by TGF-beta and during the cell cycle.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000183955 Expressed in 148 organ(s), highest expression level in esophagus mucosa

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9NQR1 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9NQR1 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA064495

<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

Interacts with L3MBTL1. Isoform 2 interacts with SIRT2 (phosphorylated form); the interaction is direct, stimulates KMT5A-mediated methyltransferase activity at histone H4 'Lys-20' (H4K20me1) and is increased in a H2O2-induced oxidative stress-dependent manner.4 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)

More...
BioGridi
132490, 31 interactors

Database of interacting proteins

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DIPi
DIP-39133N

Protein interaction database and analysis system

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IntActi
Q9NQR1, 5 interactors

Molecular INTeraction database

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MINTi
Q9NQR1

STRING: functional protein association networks

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STRINGi
9606.ENSP00000384629

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
Q9NQR1

<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

1393
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1ZKKX-ray1.45A/B/C/D231-393[»]
2BQZX-ray1.50A/E233-393[»]
3F9WX-ray1.60A/B/C/D232-393[»]
3F9XX-ray1.25A/B/C/D232-393[»]
3F9YX-ray1.50A/B232-393[»]
3F9ZX-ray1.60A/B/C/D232-393[»]
4IJ8X-ray2.00A/B232-393[»]
5HQ2X-ray4.50M194-393[»]
5T5GX-ray2.10A234-380[»]
5TEGX-ray1.30A/B234-393[»]
5TH7X-ray1.95A/B234-380[»]
5V2NX-ray2.00A231-393[»]
5W1YX-ray1.70A/B232-393[»]

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

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SMRi
Q9NQR1

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
Q9NQR1

<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_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>Domaini257 – 378SETPROSITE-ProRule annotationAdd BLAST122

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>Regioni267 – 269S-adenosyl-L-methionine binding3
Regioni339 – 340S-adenosyl-L-methionine binding2

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili134 – 163Sequence analysisAdd BLAST30

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 biasi6 – 67Ala-richAdd BLAST62
Compositional biasi29 – 32Poly-Arg4

<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

Although the SET domain contains the active site of enzymatic activity, both sequences upstream and downstream of the SET domain are required for methyltransferase activity.

<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

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1085 Eukaryota
COG2940 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000160030

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000020818

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9NQR1

KEGG Orthology (KO)

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KOi
K11428

Identification of Orthologs from Complete Genome Data

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OMAi
KWCIDAT

Database of Orthologous Groups

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OrthoDBi
1460495at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9NQR1

TreeFam database of animal gene trees

More...
TreeFami
TF335181

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR016858 Hist_H4-K20_MeTrfase
IPR001214 SET_dom

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00856 SET, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF027717 Histone_H4-K20_mtfrase, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51571 SAM_MT43_PR_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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)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.

This entry describes 2 <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

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

Isoform 1 (identifier: Q9NQR1-1) [UniParc]FASTAAdd to basket

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

« Hide
        10         20         30         40         50
MGEGGAAAAL VAAAAAAAAA AAAVVAGQRR RRLGRRARCH GPGRAAGGKM
60 70 80 90 100
SKPCAVEAAA AAVAATAPGP EMVERRGPGR PRTDGENVFT GQSKIYSYMS
110 120 130 140 150
PNKCSGMRFP LQEENSVTHH EVKCQGKPLA GIYRKREEKR NAGNAVRSAM
160 170 180 190 200
KSEEQKIKDA RKGPLVPFPN QKSEAAEPPK TPPSSCDSTN AAIAKQALKK
210 220 230 240 250
PIKGKQAPRK KAQGKTQQNR KLTDFYPVRR SSRKSKAELQ SEERKRIDEL
260 270 280 290 300
IESGKEEGMK IDLIDGKGRG VIATKQFSRG DFVVEYHGDL IEITDAKKRE
310 320 330 340 350
ALYAQDPSTG CYMYYFQYLS KTYCVDATRE TNRLGRLINH SKCGNCQTKL
360 370 380 390
HDIDGVPHLI LIASRDIAAG EELLYDYGDR SKASIEAHPW LKH
Length:393
Mass (Da):42,890
Last modified:November 15, 2002 - v3
<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:i2DCD9B697834B5BD
GO
Isoform 2 (identifier: Q9NQR1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-41: Missing.
     42-57: PGRAAGGKMSKPCAVE → MARGRKMSKPRAVEAA

Show »
Length:352
Mass (Da):39,223
Checksum:iE0DA1AB9881EE4E6
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
C9JKQ0C9JKQ0_HUMAN
Histone-lysine N-methyltransferase
KMT5A
299Annotation 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>
A0A0C4DFR3A0A0C4DFR3_HUMAN
Histone-lysine N-methyltransferase
KMT5A
322Annotation 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>
F8WC45F8WC45_HUMAN
N-lysine methyltransferase KMT5A
KMT5A
91Annotation 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 AAL40879 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.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 conflicti162 – 163KG → RR in AAF97812 (Ref. 3) Curated2
Sequence conflicti281D → A in AAF97812 (Ref. 3) Curated1
Sequence conflicti343C → R in AAF97812 (Ref. 3) Curated1
Sequence conflicti357P → R in AAH50346 (PubMed:15489334).Curated1
Sequence conflicti373L → P in AAF97812 (Ref. 3) 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_0022261 – 41Missing in isoform 2. 3 PublicationsAdd BLAST41
Alternative sequenceiVSP_00222742 – 57PGRAA…PCAVE → MARGRKMSKPRAVEAA in isoform 2. 3 PublicationsAdd BLAST16

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AY064546 mRNA Translation: AAL40879.1 Different initiation.
AY102937 mRNA Translation: AAM47033.1
AF287261 mRNA Translation: AAF97812.2
AK292645 mRNA Translation: BAF85334.1
BC050346 mRNA Translation: AAH50346.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS9247.1 [Q9NQR1-2]

NCBI Reference Sequences

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RefSeqi
NP_001311433.1, NM_001324504.1
NP_001311434.1, NM_001324505.1
NP_001311435.1, NM_001324506.1
NP_065115.3, NM_020382.4 [Q9NQR1-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000402868; ENSP00000384629; ENSG00000183955 [Q9NQR1-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
387893

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:387893

UCSC genome browser

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UCSCi
uc001uew.4 human [Q9NQR1-1]

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY064546 mRNA Translation: AAL40879.1 Different initiation.
AY102937 mRNA Translation: AAM47033.1
AF287261 mRNA Translation: AAF97812.2
AK292645 mRNA Translation: BAF85334.1
BC050346 mRNA Translation: AAH50346.1
CCDSiCCDS9247.1 [Q9NQR1-2]
RefSeqiNP_001311433.1, NM_001324504.1
NP_001311434.1, NM_001324505.1
NP_001311435.1, NM_001324506.1
NP_065115.3, NM_020382.4 [Q9NQR1-2]

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1ZKKX-ray1.45A/B/C/D231-393[»]
2BQZX-ray1.50A/E233-393[»]
3F9WX-ray1.60A/B/C/D232-393[»]
3F9XX-ray1.25A/B/C/D232-393[»]
3F9YX-ray1.50A/B232-393[»]
3F9ZX-ray1.60A/B/C/D232-393[»]
4IJ8X-ray2.00A/B232-393[»]
5HQ2X-ray4.50M194-393[»]
5T5GX-ray2.10A234-380[»]
5TEGX-ray1.30A/B234-393[»]
5TH7X-ray1.95A/B234-380[»]
5V2NX-ray2.00A231-393[»]
5W1YX-ray1.70A/B232-393[»]
SMRiQ9NQR1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi132490, 31 interactors
DIPiDIP-39133N
IntActiQ9NQR1, 5 interactors
MINTiQ9NQR1
STRINGi9606.ENSP00000384629

Chemistry databases

BindingDBiQ9NQR1
ChEMBLiCHEMBL1795176
GuidetoPHARMACOLOGYi2704

PTM databases

iPTMnetiQ9NQR1
PhosphoSitePlusiQ9NQR1

Polymorphism and mutation databases

BioMutaiKMT5A
DMDMi25091219

Proteomic databases

jPOSTiQ9NQR1
MaxQBiQ9NQR1
PaxDbiQ9NQR1
PeptideAtlasiQ9NQR1
PRIDEiQ9NQR1
ProteomicsDBi82171
82172 [Q9NQR1-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
387893
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000402868; ENSP00000384629; ENSG00000183955 [Q9NQR1-2]
GeneIDi387893
KEGGihsa:387893
UCSCiuc001uew.4 human [Q9NQR1-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
387893
DisGeNETi387893

GeneCards: human genes, protein and diseases

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GeneCardsi
KMT5A

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0037637
HGNCiHGNC:29489 KMT5A
HPAiHPA064495
MIMi607240 gene
neXtProtiNX_Q9NQR1
OpenTargetsiENSG00000183955
PharmGKBiPA143485616

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1085 Eukaryota
COG2940 LUCA
GeneTreeiENSGT00940000160030
HOGENOMiHOG000020818
InParanoidiQ9NQR1
KOiK11428
OMAiKWCIDAT
OrthoDBi1460495at2759
PhylomeDBiQ9NQR1
TreeFamiTF335181

Enzyme and pathway databases

BRENDAi2.1.1.43 2681
ReactomeiR-HSA-2299718 Condensation of Prophase Chromosomes
R-HSA-3214841 PKMTs methylate histone lysines
R-HSA-6804760 Regulation of TP53 Activity through Methylation
SIGNORiQ9NQR1

Miscellaneous databases

EvolutionaryTraceiQ9NQR1

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
SETD8

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

More...
GenomeRNAii
387893

Protein Ontology

More...
PROi
PR:Q9NQR1

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000183955 Expressed in 148 organ(s), highest expression level in esophagus mucosa
ExpressionAtlasiQ9NQR1 baseline and differential
GenevisibleiQ9NQR1 HS

Family and domain databases

InterProiView protein in InterPro
IPR016858 Hist_H4-K20_MeTrfase
IPR001214 SET_dom
PfamiView protein in Pfam
PF00856 SET, 1 hit
PIRSFiPIRSF027717 Histone_H4-K20_mtfrase, 1 hit
SMARTiView protein in SMART
SM00317 SET, 1 hit
PROSITEiView protein in PROSITE
PS51571 SAM_MT43_PR_SET, 1 hit
PS50280 SET, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
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 nameiKMT5A_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: Q9NQR1
Secondary accession number(s): A8K9D0, Q86W83, Q8TD09
<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: November 15, 2002
Last modified: May 8, 2019
This is version 176 of the entry and version 3 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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