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Entry version 138 (12 Aug 2020)
Sequence version 5 (08 May 2019)
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Protein

Histone-lysine N-methyltransferase KMT5B

Gene

KMT5B

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 methylates monomethylated 'Lys-20' (H4K20me1) and dimethylated 'Lys-20' (H4K20me2) of histone H4 to produce respectively dimethylated 'Lys-20' (H4K20me2) and trimethylated 'Lys-20' (H4K20me3) and thus regulates transcription and maintenance of genome integrity (PubMed:24396869, PubMed:28114273). In vitro also methylates unmodified 'Lys-20' (H4K20me0) of histone H4 and nucleosomes (PubMed:24396869). H4 'Lys-20' trimethylation represents a specific tag for epigenetic transcriptional repression. Mainly functions in pericentric heterochromatin regions, thereby playing a central role in the establishment of constitutive heterochromatin in these regions. KMT5B is targeted to histone H3 via its interaction with RB1 family proteins (RB1, RBL1 and RBL2) (By similarity). Plays a role in myogenesis by regulating the expression of target genes, such as EID3 (PubMed:23720823). Facilitates TP53BP1 foci formation upon DNA damage and proficient non-homologous end-joining (NHEJ)-directed DNA repair by catalyzing the di- and trimethylation of 'Lys-20' of histone H4 (PubMed:28114273). May play a role in class switch reconbination by catalyzing the di- and trimethylation of 'Lys-20' of histone H4 (By similarity).By similarity3 Publications

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

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

Inhibited by 6,7-Dichloro-N-cyclopentyl-4-(pyridin-4-yl)phthalazin-1-amine (A-196) with an IC50 of 25 nM. A-196 is competitive with the histone peptide substrate H4K20me1 but non competitive with S-adenosyl-L-methionine.1 Publication

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=3.4 µM for H4K20me01 Publication
  2. KM=1.7 µM for H4K20me11 Publication
  3. KM=0.3 µM for nucleosome1 Publication

    pH dependencei

    Optimum pH is 8.1 Publication

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei98S-adenosyl-L-methionineCombined sources3 Publications1
    Binding sitei210S-adenosyl-L-methionine; via amide nitrogen and carbonyl oxygenCombined sources3 Publications1
    Binding sitei257S-adenosyl-L-methionineCombined sources2 Publications1
    <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 bindingi275ZincCombined sources3 Publications1
    Metal bindingi319ZincCombined sources3 Publications1
    Binding sitei320S-adenosyl-L-methionine; via amide nitrogenCombined sources3 Publications1
    Metal bindingi321ZincCombined sources3 Publications1
    Metal bindingi324ZincCombined sources3 Publications1

    <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 processMyogenesis, Transcription, Transcription regulation
    LigandMetal-binding, S-adenosyl-L-methionine, Zinc

    Enzyme and pathway databases

    Pathway Commons web resource for biological pathway data

    More...
    PathwayCommonsi
    Q4FZB7

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-3214841, PKMTs methylate histone lysines

    <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 KMT5BCurated
    Alternative name(s):
    Lysine N-methyltransferase 5B
    Lysine-specific methyltransferase 5BImported
    Suppressor of variegation 4-20 homolog 1
    Short name:
    Su(var)4-20 homolog 1
    Short name:
    Suv4-20h1
    [histone H4]-N-methyl-L-lysine20 N-methyltransferase KMT5BCurated (EC:2.1.1.3622 Publications)
    [histone H4]-lysine20 N-methyltransferase KMT5BCurated (EC:2.1.1.3611 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:KMT5BImported
    Synonyms:SUV420H1
    ORF Names:CGI-85
    <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 11

    Organism-specific databases

    Eukaryotic Pathogen Database Resources

    More...
    EuPathDBi
    HostDB:ENSG00000110066.14

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:24283, KMT5B

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    610881, gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_Q4FZB7

    <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

    Mental retardation, autosomal dominant 51 (MRD51)2 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionA form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
    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_081278187 – 885Missing in MRD51. 1 PublicationAdd BLAST699
    Natural variantiVAR_080549264W → S in MRD51; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1555028104EnsemblClinVar.1
    Natural variantiVAR_080550513A → V in MRD51; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs377163167EnsemblClinVar.1
    Natural variantiVAR_080551540R → Q in MRD51; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs565603169EnsemblClinVar.1

    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>Mutagenesisi229G → F: Km for H4K20me1rise to 17 uM. 8-fold decrease in catalytic efficiency. 1 Publication1
    Mutagenesisi229G → Y: Abolishes histone methyltransferase activity (H4-K20 specific). 1 Publication1
    Mutagenesisi251S → A: Abolishes histone methyltransferase activity (H4-K20 specific). 1 Publication1
    Mutagenesisi264W → A: Abolishes histone methyltransferase activity (H4-K20 specific). 1 Publication1
    Mutagenesisi281F → A: Abolishes histone methyltransferase activity (H4-K20 specific). 1 Publication1
    Mutagenesisi311F → A: Km for H4K20me1rise to 8.5 uM. 3-fold decrease in catalytic efficiency. 1 Publication1

    Keywords - Diseasei

    Disease mutation, Mental retardation

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    51111

    MalaCards human disease database

    More...
    MalaCardsi
    KMT5B
    MIMi617788, phenotype

    Open Targets

    More...
    OpenTargetsi
    ENSG00000110066

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA134958369

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...
    Pharosi
    Q4FZB7, Tchem

    Chemistry databases

    ChEMBL database of bioactive drug-like small molecules

    More...
    ChEMBLi
    CHEMBL2321645

    IUPHAR/BPS Guide to PHARMACOLOGY

    More...
    GuidetoPHARMACOLOGYi
    2717

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    KMT5B

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    332278247

    <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_00002817871 – 885Histone-lysine N-methyltransferase KMT5BAdd BLAST885

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki555Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

    Keywords - PTMi

    Isopeptide bond, Ubl conjugation

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...
    EPDi
    Q4FZB7

    jPOST - Japan Proteome Standard Repository/Database

    More...
    jPOSTi
    Q4FZB7

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...
    MassIVEi
    Q4FZB7

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    Q4FZB7

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

    More...
    PaxDbi
    Q4FZB7

    PeptideAtlas

    More...
    PeptideAtlasi
    Q4FZB7

    PRoteomics IDEntifications database

    More...
    PRIDEi
    Q4FZB7

    ProteomicsDB: a multi-organism proteome resource

    More...
    ProteomicsDBi
    62098 [Q4FZB7-1]
    62099 [Q4FZB7-2]
    62100 [Q4FZB7-4]

    PTM databases

    GlyConnect protein glycosylation platform

    More...
    GlyConnecti
    2047, 2 N-Linked glycans (1 site)

    GlyGen: Computational and Informatics Resources for Glycoscience

    More...
    GlyGeni
    Q4FZB7, 1 site, 2 N-linked glycans (1 site)

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    Q4FZB7

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

    More...
    PhosphoSitePlusi
    Q4FZB7

    <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 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

    Strongly down-regulated in breast cancer cells.1 Publication

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000110066, Expressed in neocortex and 243 other tissues

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    Q4FZB7, baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    Q4FZB7, HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    ENSG00000110066, 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:24396869, Ref. 14).

    Interacts with HP1 proteins CBX1, CBX3 and CBX5.

    Interacts with RB1 family proteins RB1, RBL1 and RBL2 (By similarity).

    Interacts (via C-terminus) with FRG1.

    By similarity3 Publications

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

    Hide details

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGRID)

    More...
    BioGRIDi
    119300, 7 interactors

    Database of interacting proteins

    More...
    DIPi
    DIP-48656N

    Protein interaction database and analysis system

    More...
    IntActi
    Q4FZB7, 8 interactors

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000305899

    Miscellaneous databases

    RNAct, Protein-RNA interaction predictions for model organisms.

    More...
    RNActi
    Q4FZB7, 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

    1885
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    3D structure databases

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

    More...
    SMRi
    Q4FZB7

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    Protein Data Bank in Europe - Knowledge Base

    More...
    PDBe-KBi
    Search...

    <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>Domaini193 – 308SETPROSITE-ProRule annotationAdd BLAST116

    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>Regioni203 – 206S-adenosyl-L-methionine bindingCombined sources3 Publications4
    Regioni272 – 273S-adenosyl-L-methionine bindingCombined sources3 Publications2

    <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

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    KOG2589, Eukaryota

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00940000156431

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    CLU_328991_0_0_1

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    Q4FZB7

    KEGG Orthology (KO)

    More...
    KOi
    K11429

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    TKLQHAG

    Database of Orthologous Groups

    More...
    OrthoDBi
    236983at2759

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    Q4FZB7

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF106433

    Family and domain databases

    Gene3D Structural and Functional Annotation of Protein Families

    More...
    Gene3Di
    1.10.10.1700, 1 hit

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR041938, Hist-Lys_N-MTase_N
    IPR025790, Hist-Lys_N-MTase_Suvar4-20
    IPR039977, KMT5B/KMT5C/SET9
    IPR001214, SET_dom

    The PANTHER Classification System

    More...
    PANTHERi
    PTHR12977, PTHR12977, 1 hit

    Pfam protein domain database

    More...
    Pfami
    View protein in Pfam
    PF00856, SET, 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
    PS51570, SAM_MT43_SUVAR420_2, 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 7 potential isoforms that are computationally mapped.Show allAlign All

    Isoform 1 (identifier: Q4FZB7-1) [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
    MKWLGESKNM VVNGRRNGGK LSNDHQQNQS KLQHTGKDTL KAGKNAVERR
    60 70 80 90 100
    SNRCNGNSGF EGQSRYVPSS GMSAKELCEN DDLATSLVLD PYLGFQTHKM
    110 120 130 140 150
    NTSAFPSRSS RHFSKSDSFS HNNPVRFRPI KGRQEELKEV IERFKKDEHL
    160 170 180 190 200
    EKAFKCLTSG EWARHYFLNK NKMQEKLFKE HVFIYLRMFA TDSGFEILPC
    210 220 230 240 250
    NRYSSEQNGA KIVATKEWKR NDKIELLVGC IAELSEIEEN MLLRHGENDF
    260 270 280 290 300
    SVMYSTRKNC AQLWLGPAAF INHDCRPNCK FVSTGRDTAC VKALRDIEPG
    310 320 330 340 350
    EEISCYYGDG FFGENNEFCE CYTCERRGTG AFKSRVGLPA PAPVINSKYG
    360 370 380 390 400
    LRETDKRLNR LKKLGDSSKN SDSQSVSSNT DADTTQEKNN ATSNRKSSVG
    410 420 430 440 450
    VKKNSKSRTL TRQSMSRIPA SSNSTSSKLT HINNSRVPKK LKKPAKPLLS
    460 470 480 490 500
    KIKLRNHCKR LEQKNASRKL EMGNLVLKEP KVVLYKNLPI KKDKEPEGPA
    510 520 530 540 550
    QAAVASGCLT RHAAREHRQN PVRGAHSQGE SSPCTYITRR SVRTRTNLKE
    560 570 580 590 600
    ASDIKLEPNT LNGYKSSVTE PCPDSGEQLQ PAPVLQEEEL AHETAQKGEA
    610 620 630 640 650
    KCHKSDTGMS KKKSRQGKLV KQFAKIEEST PVHDSPGKDD AVPDLMGPHS
    660 670 680 690 700
    DQGEHSGTVG VPVSYTDCAP SPVGCSVVTS DSFKTKDSFR TAKSKKKRRI
    710 720 730 740 750
    TRYDAQLILE NNSGIPKLTL RRRHDSSSKT NDQENDGMNS SKISIKLSKD
    760 770 780 790 800
    HDNDNNLYVA KLNNGFNSGS GSSSTKLKIQ LKRDEENRGS YTEGLHENGV
    810 820 830 840 850
    CCSDPLSLLE SRMEVDDYSQ YEEESTDDSS SSEGDEEEDD YDDDFEDDFI
    860 870 880
    PLPPAKRLRL IVGKDSIDID ISSRRREDQS LRLNA
    Length:885
    Mass (Da):99,188
    Last modified:May 8, 2019 - v5
    <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:i13B0B6E35F751F48
    GO
    Isoform 2 (identifier: Q4FZB7-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         392-393: TS → SK
         394-885: Missing.

    Show »
    Length:393
    Mass (Da):44,618
    Checksum:iA9690C2164F3384E
    GO
    Isoform 3 (identifier: Q4FZB7-4) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         274-274: D → DLINS
         275-885: Missing.

    Show »
    Length:278
    Mass (Da):31,960
    Checksum:i12C62DDC622B03DB
    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 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    B7WNX0B7WNX0_HUMAN
    [histone H4]-N-methyl-L-lysine20 N-...
    KMT5B
    370Annotation 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>
    B5MCB3B5MCB3_HUMAN
    [histone H4]-N-methyl-L-lysine20 N-...
    KMT5B
    402Annotation 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>
    C9J6S5C9J6S5_HUMAN
    Histone-lysine N-methyltransferase ...
    KMT5B
    120Annotation 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>
    C9JFG1C9JFG1_HUMAN
    Histone-lysine N-methyltransferase ...
    KMT5B
    100Annotation 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>
    C9JP58C9JP58_HUMAN
    Histone-lysine N-methyltransferase ...
    KMT5B
    118Annotation 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>
    F8WFA4F8WFA4_HUMAN
    Histone-lysine N-methyltransferase ...
    KMT5B
    159Annotation 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>
    H7BXP2H7BXP2_HUMAN
    Histone-lysine N-methyltransferase ...
    KMT5B
    103Annotation 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 AAD34080 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
    The sequence AAG36937 differs from that shown. Reason: Frameshift.Curated
    The sequence AAH98121 differs from that shown. Reason: Erroneous translation. Wrong choice of frame.Curated
    The sequence AAI04484 differs from that shown. Reason: Frameshift.Curated
    The sequence BAA90905 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 conflicti74A → P in AAD34080 (PubMed:10810093).Curated1
    Sequence conflicti79E → G in AAD34080 (PubMed:10810093).Curated1
    Sequence conflicti99K → Q in AAD34080 (PubMed:10810093).Curated1
    Sequence conflicti108R → W in AAG36937 (PubMed:11401438).Curated1
    Sequence conflicti123N → K in AAD34080 (PubMed:10810093).Curated1
    Sequence conflicti135E → G in AAD34080 (PubMed:10810093).Curated1
    Sequence conflicti469K → E in BAA90905 (PubMed:14702039).Curated1
    Sequence conflicti483V → A in BAA90905 (PubMed:14702039).Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_0477659N → I1 PublicationCorresponds to variant dbSNP:rs2512606Ensembl.1
    Natural variantiVAR_081278187 – 885Missing in MRD51. 1 PublicationAdd BLAST699
    Natural variantiVAR_080549264W → S in MRD51; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1555028104EnsemblClinVar.1
    Natural variantiVAR_080550513A → V in MRD51; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs377163167EnsemblClinVar.1
    Natural variantiVAR_080551540R → Q in MRD51; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs565603169EnsemblClinVar.1

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_040034274D → DLINS in isoform 3. 1 Publication1
    Alternative sequenceiVSP_040035275 – 885Missing in isoform 3. 1 PublicationAdd BLAST611
    Alternative sequenceiVSP_024051392 – 393TS → SK in isoform 2. 2 Publications2
    Alternative sequenceiVSP_024052394 – 885Missing in isoform 2. 2 PublicationsAdd BLAST492

    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
    AP002992 Genomic DNA No translation available.
    KC877427 Genomic DNA No translation available.
    KC877429 Genomic DNA No translation available.
    BC002522 mRNA Translation: AAH02522.2
    BC012933 mRNA Translation: AAH12933.2
    BC065287 mRNA Translation: AAH65287.1
    BC087834 mRNA Translation: AAH87834.1
    BC098121 mRNA Translation: AAH98121.1 Sequence problems.
    BC099714 mRNA Translation: AAH99714.1
    BC103498 mRNA Translation: AAI03499.1
    BC104483 mRNA Translation: AAI04484.1 Frameshift.
    AF264782 mRNA Translation: AAG36937.1 Frameshift.
    AF151843 mRNA Translation: AAD34080.1 Different initiation.
    AK000046 mRNA Translation: BAA90905.1 Different initiation.
    AL512763 mRNA Translation: CAC21680.1

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS31623.1 [Q4FZB7-1]
    CCDS44660.1 [Q4FZB7-2]

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_001287838.1, NM_001300909.1
    NP_057112.3, NM_016028.4 [Q4FZB7-2]
    NP_060105.3, NM_017635.4 [Q4FZB7-1]
    XP_005274092.2, XM_005274035.3 [Q4FZB7-1]
    XP_011543393.1, XM_011545091.1
    XP_011543395.1, XM_011545093.2
    XP_011543396.1, XM_011545094.2

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000304363; ENSP00000305899; ENSG00000110066 [Q4FZB7-1]
    ENST00000401547; ENSP00000385965; ENSG00000110066 [Q4FZB7-2]
    ENST00000405515; ENSP00000385640; ENSG00000110066 [Q4FZB7-2]
    ENST00000441488; ENSP00000411146; ENSG00000110066 [Q4FZB7-4]
    ENST00000615954; ENSP00000484858; ENSG00000110066 [Q4FZB7-1]

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    51111

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:51111

    UCSC genome browser

    More...
    UCSCi
    uc001onm.2, human [Q4FZB7-1]

    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
    AP002992 Genomic DNA No translation available.
    KC877427 Genomic DNA No translation available.
    KC877429 Genomic DNA No translation available.
    BC002522 mRNA Translation: AAH02522.2
    BC012933 mRNA Translation: AAH12933.2
    BC065287 mRNA Translation: AAH65287.1
    BC087834 mRNA Translation: AAH87834.1
    BC098121 mRNA Translation: AAH98121.1 Sequence problems.
    BC099714 mRNA Translation: AAH99714.1
    BC103498 mRNA Translation: AAI03499.1
    BC104483 mRNA Translation: AAI04484.1 Frameshift.
    AF264782 mRNA Translation: AAG36937.1 Frameshift.
    AF151843 mRNA Translation: AAD34080.1 Different initiation.
    AK000046 mRNA Translation: BAA90905.1 Different initiation.
    AL512763 mRNA Translation: CAC21680.1
    CCDSiCCDS31623.1 [Q4FZB7-1]
    CCDS44660.1 [Q4FZB7-2]
    RefSeqiNP_001287838.1, NM_001300909.1
    NP_057112.3, NM_016028.4 [Q4FZB7-2]
    NP_060105.3, NM_017635.4 [Q4FZB7-1]
    XP_005274092.2, XM_005274035.3 [Q4FZB7-1]
    XP_011543393.1, XM_011545091.1
    XP_011543395.1, XM_011545093.2
    XP_011543396.1, XM_011545094.2

    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
    3S8PX-ray1.85A/B63-335[»]
    5CPRX-ray2.22B69-335[»]
    5WBVX-ray2.30A/B63-335[»]
    SMRiQ4FZB7
    ModBaseiSearch...
    PDBe-KBiSearch...

    Protein-protein interaction databases

    BioGRIDi119300, 7 interactors
    DIPiDIP-48656N
    IntActiQ4FZB7, 8 interactors
    STRINGi9606.ENSP00000305899

    Chemistry databases

    ChEMBLiCHEMBL2321645
    GuidetoPHARMACOLOGYi2717

    PTM databases

    GlyConnecti2047, 2 N-Linked glycans (1 site)
    GlyGeniQ4FZB7, 1 site, 2 N-linked glycans (1 site)
    iPTMnetiQ4FZB7
    PhosphoSitePlusiQ4FZB7

    Polymorphism and mutation databases

    BioMutaiKMT5B
    DMDMi332278247

    Proteomic databases

    EPDiQ4FZB7
    jPOSTiQ4FZB7
    MassIVEiQ4FZB7
    MaxQBiQ4FZB7
    PaxDbiQ4FZB7
    PeptideAtlasiQ4FZB7
    PRIDEiQ4FZB7
    ProteomicsDBi62098 [Q4FZB7-1]
    62099 [Q4FZB7-2]
    62100 [Q4FZB7-4]

    Protocols and materials databases

    Antibodypedia a portal for validated antibodies

    More...
    Antibodypediai
    30535, 247 antibodies

    Genome annotation databases

    EnsembliENST00000304363; ENSP00000305899; ENSG00000110066 [Q4FZB7-1]
    ENST00000401547; ENSP00000385965; ENSG00000110066 [Q4FZB7-2]
    ENST00000405515; ENSP00000385640; ENSG00000110066 [Q4FZB7-2]
    ENST00000441488; ENSP00000411146; ENSG00000110066 [Q4FZB7-4]
    ENST00000615954; ENSP00000484858; ENSG00000110066 [Q4FZB7-1]
    GeneIDi51111
    KEGGihsa:51111
    UCSCiuc001onm.2, human [Q4FZB7-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    51111
    DisGeNETi51111
    EuPathDBiHostDB:ENSG00000110066.14

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    KMT5B
    HGNCiHGNC:24283, KMT5B
    HPAiENSG00000110066, Low tissue specificity
    MalaCardsiKMT5B
    MIMi610881, gene
    617788, phenotype
    neXtProtiNX_Q4FZB7
    OpenTargetsiENSG00000110066
    PharmGKBiPA134958369

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG2589, Eukaryota
    GeneTreeiENSGT00940000156431
    HOGENOMiCLU_328991_0_0_1
    InParanoidiQ4FZB7
    KOiK11429
    OMAiTKLQHAG
    OrthoDBi236983at2759
    PhylomeDBiQ4FZB7
    TreeFamiTF106433

    Enzyme and pathway databases

    PathwayCommonsiQ4FZB7
    ReactomeiR-HSA-3214841, PKMTs methylate histone lysines

    Miscellaneous databases

    BioGRID ORCS database of CRISPR phenotype screens

    More...
    BioGRID-ORCSi
    51111, 56 hits in 871 CRISPR screens

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

    More...
    ChiTaRSi
    KMT5B, human

    The Gene Wiki collection of pages on human genes and proteins

    More...
    GeneWikii
    SUV420H1

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

    More...
    GenomeRNAii
    51111
    PharosiQ4FZB7, Tchem

    Protein Ontology

    More...
    PROi
    PR:Q4FZB7
    RNActiQ4FZB7, protein

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000110066, Expressed in neocortex and 243 other tissues
    ExpressionAtlasiQ4FZB7, baseline and differential
    GenevisibleiQ4FZB7, HS

    Family and domain databases

    Gene3Di1.10.10.1700, 1 hit
    InterProiView protein in InterPro
    IPR041938, Hist-Lys_N-MTase_N
    IPR025790, Hist-Lys_N-MTase_Suvar4-20
    IPR039977, KMT5B/KMT5C/SET9
    IPR001214, SET_dom
    PANTHERiPTHR12977, PTHR12977, 1 hit
    PfamiView protein in Pfam
    PF00856, SET, 1 hit
    SMARTiView protein in SMART
    SM00317, SET, 1 hit
    PROSITEiView protein in PROSITE
    PS51570, SAM_MT43_SUVAR420_2, 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 nameiKMT5B_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: Q4FZB7
    Secondary accession number(s): A0A0A0MT19
    , B7WNX7, Q3SX56, Q4V775, Q6P150, Q96E44, Q9BUL0, Q9H022, Q9H2K3, Q9NXV3, Q9Y393
    <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: April 3, 2007
    Last sequence update: May 8, 2019
    Last modified: August 12, 2020
    This is version 138 of the entry and version 5 of the sequence. See complete history.
    <p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

    Keywords - Technical termi

    3D-structure, Reference proteome

    Documents

    1. Human chromosome 11
      Human chromosome 11: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families
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