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Entry version 179 (16 Oct 2019)
Sequence version 3 (20 Jan 2009)
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Protein

Histone-lysine N-methyltransferase 2C

Gene

KMT2C

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. Methylates 'Lys-4' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Central component of the MLL2/3 complex, a coactivator complex of nuclear receptors, involved in transcriptional coactivation. KMT2C/MLL3 may be a catalytic subunit of this complex. May be involved in leukemogenesis and developmental disorder.1 Publication

Miscellaneous

Found in a critical region of chromosome 7, which is commonly deleted in malignant myeloid disorders. Partial duplication of the KMT2C gene are found in the juxtacentromeric region of chromosomes 1, 2, 13 and 21. Juxtacentromeric reshuffling of the KMT2C gene has generated the BAGE genes.

<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 <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei4825S-adenosyl-L-methioninePROSITE-ProRule annotation1
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi4851ZincBy similarity1
Metal bindingi4899ZincBy similarity1
Metal bindingi4901ZincBy similarity1
Metal bindingi4906ZincBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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 bindingi34 – 46A.T hookAdd BLAST13
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri227 – 262C2HC pre-PHD-type 1; degeneratePROSITE-ProRule annotationAdd BLAST36
Zinc fingeri283 – 331PHD-type 1PROSITE-ProRule annotationAdd BLAST49
Zinc fingeri341 – 391PHD-type 2PROSITE-ProRule annotationAdd BLAST51
Zinc fingeri344 – 389RING-typePROSITE-ProRule annotationAdd BLAST46
Zinc fingeri388 – 438PHD-type 3PROSITE-ProRule annotationAdd BLAST51
Zinc fingeri464 – 520PHD-type 4PROSITE-ProRule annotationAdd BLAST57
Zinc fingeri957 – 1010PHD-type 5PROSITE-ProRule annotationAdd BLAST54
Zinc fingeri1007 – 1057PHD-type 6PROSITE-ProRule annotationAdd BLAST51
Zinc fingeri1084 – 1139PHD-type 7PROSITE-ProRule annotationAdd BLAST56
Zinc fingeri4399 – 4439C2HC pre-PHD-type 2PROSITE-ProRule annotationAdd BLAST41
Zinc fingeri4460 – 4507PHD-type 8PROSITE-ProRule annotationAdd BLAST48

<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 functionActivator, Acyltransferase, Chromatin regulator, DNA-binding, Methyltransferase, Transferase
Biological processTranscription, Transcription regulation
LigandMetal-binding, S-adenosyl-L-methionine, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-3214841 PKMTs methylate histone lysines
R-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogenesis
R-HSA-8936459 RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Histone-lysine N-methyltransferase 2C (EC:2.1.1.43)
Short name:
Lysine N-methyltransferase 2C
Alternative name(s):
Homologous to ALR protein
Myeloid/lymphoid or mixed-lineage leukemia protein 3
<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:KMT2C
Synonyms:HALR, KIAA1506, MLL3
<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 7

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:13726 KMT2C

Online Mendelian Inheritance in Man (OMIM)

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MIMi
606833 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8NEZ4

<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

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

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

Kleefstra syndrome 2 (KLEFS2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Kleefstra syndrome, an autosomal dominant disease characterized by variable mental retardation, psychomotor developmental delay, seizures, behavioral abnormalities, and facial dysmorphisms.
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_080246564 – 4911Missing in KLEFS2. 1 PublicationAdd BLAST4348
Natural variantiVAR_0802471481 – 4911Missing in KLEFS2. 1 PublicationAdd BLAST3431
Natural variantiVAR_0802482517 – 4911Missing in KLEFS2. 1 PublicationAdd BLAST2395

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
58508

MalaCards human disease database

More...
MalaCardsi
KMT2C
MIMi617768 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000055609

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

More...
Orphaneti
261652 Kleefstra syndrome due to a point mutation

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30847

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8NEZ4

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2189113

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
KMT2C

Domain mapping of disease mutations (DMDM)

More...
DMDMi
221222521

<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_00001248791 – 4911Histone-lysine N-methyltransferase 2CAdd BLAST4911

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 residuei28PhosphoserineCombined sources1
Modified residuei46PhosphoserineCombined sources1
Modified residuei89PhosphoserineCombined sources1
Modified residuei113PhosphoserineCombined sources1
Modified residuei200PhosphoserineCombined sources1
Modified residuei758N6-acetyllysineCombined sources1
Modified residuei854PhosphoserineCombined sources1
Modified residuei1301PhosphoserineCombined sources1
Modified residuei1508N6-acetyllysineCombined sources1
Modified residuei1772N6-acetyllysineCombined sources1
Modified residuei1987PhosphoserineCombined sources1
Modified residuei2009N6-acetyllysineCombined sources1
Modified residuei2454Asymmetric dimethylarginineBy similarity1
Modified residuei2571Asymmetric dimethylarginineBy similarity1
Modified residuei2802N6-acetyllysineCombined sources1
Modified residuei2809N6-acetyllysineCombined sources1
Modified residuei2828PhosphoserineCombined sources1
Modified residuei2832N6-acetyllysineCombined sources1
Modified residuei2867N6-acetyllysineBy similarity1
Modified residuei3714N6-acetyllysineCombined sources1
Modified residuei3758PhosphoserineCombined sources1
Modified residuei4034PhosphoserineCombined sources1
Modified residuei4139Asymmetric dimethylarginineBy similarity1
Modified residuei4267PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Lipoprotein, Methylation, Palmitate, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8NEZ4

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8NEZ4

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q8NEZ4

MaxQB - The MaxQuant DataBase

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MaxQBi
Q8NEZ4

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

More...
PaxDbi
Q8NEZ4

PeptideAtlas

More...
PeptideAtlasi
Q8NEZ4

PRoteomics IDEntifications database

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PRIDEi
Q8NEZ4

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
73252 [Q8NEZ4-1]
73253 [Q8NEZ4-2]
73254 [Q8NEZ4-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8NEZ4

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

More...
PhosphoSitePlusi
Q8NEZ4

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

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

Highly expressed in testis and ovary, followed by brain and liver. Also expressed in placenta, peripherical blood, fetal thymus, heart, lung and kidney. Within brain, expression was highest in hippocampus, caudate nucleus, and substantia nigra. Not detected in skeletal muscle and fetal liver.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000055609 Expressed in 216 organ(s), highest expression level in placenta

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8NEZ4 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8NEZ4 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA074736

<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

Component of the MLL2/3 complex (also named ASCOM complex), at least composed of KMT2D/MLL2 or KMT2C/MLL3, ASH2L, RBBP5, WDR5, NCOA6, DPY30, KDM6A, PAXIP1/PTIP, PAGR1 and alpha- and beta-tubulin.

Interacts with histone H3.

2 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
121835, 34 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q8NEZ4

Database of interacting proteins

More...
DIPi
DIP-48649N

Protein interaction database and analysis system

More...
IntActi
Q8NEZ4, 25 interactors

Molecular INTeraction database

More...
MINTi
Q8NEZ4

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000262189

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q8NEZ4

<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

14911
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
Q8NEZ4

Database of comparative protein structure models

More...
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
Q8NEZ4

<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>Domaini436 – 489DHHCPROSITE-ProRule annotationAdd BLAST54
Domaini4545 – 4605FYR N-terminalPROSITE-ProRule annotationAdd BLAST61
Domaini4606 – 4691FYR C-terminalPROSITE-ProRule annotationAdd BLAST86
Domaini4771 – 4887SETPROSITE-ProRule annotationAdd BLAST117
Domaini4895 – 4911Post-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>Regioni4848 – 4849S-adenosyl-L-methionine bindingBy similarity2

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 coili92 – 112Sequence analysisAdd BLAST21
Coiled coili644 – 672Sequence analysisAdd BLAST29
Coiled coili1338 – 1366Sequence analysisAdd BLAST29
Coiled coili1754 – 1787Sequence analysisAdd BLAST34
Coiled coili3054 – 3081Sequence analysisAdd BLAST28
Coiled coili3173 – 3272Sequence analysisAdd BLAST100
Coiled coili3391 – 3433Sequence analysisAdd BLAST43

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 biasi1719 – 1796Gln-richAdd BLAST78
Compositional biasi1834 – 2281Pro-richAdd BLAST448
Compositional biasi2412 – 2630Pro-richAdd BLAST219
Compositional biasi2690 – 2786Asp-richAdd BLAST97
Compositional biasi3012 – 3509Gln-richAdd BLAST498
Compositional biasi3277 – 3381Pro-richAdd BLAST105

<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 SET domain interacts with histone H3 but not H2A, H2B and H4, and may have a H3 lysine specific methylation 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

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri227 – 262C2HC pre-PHD-type 1; degeneratePROSITE-ProRule annotationAdd BLAST36
Zinc fingeri283 – 331PHD-type 1PROSITE-ProRule annotationAdd BLAST49
Zinc fingeri341 – 391PHD-type 2PROSITE-ProRule annotationAdd BLAST51
Zinc fingeri344 – 389RING-typePROSITE-ProRule annotationAdd BLAST46
Zinc fingeri388 – 438PHD-type 3PROSITE-ProRule annotationAdd BLAST51
Zinc fingeri464 – 520PHD-type 4PROSITE-ProRule annotationAdd BLAST57
Zinc fingeri957 – 1010PHD-type 5PROSITE-ProRule annotationAdd BLAST54
Zinc fingeri1007 – 1057PHD-type 6PROSITE-ProRule annotationAdd BLAST51
Zinc fingeri1084 – 1139PHD-type 7PROSITE-ProRule annotationAdd BLAST56
Zinc fingeri4399 – 4439C2HC pre-PHD-type 2PROSITE-ProRule annotationAdd BLAST41
Zinc fingeri4460 – 4507PHD-type 8PROSITE-ProRule annotationAdd BLAST48

Keywords - Domaini

Coiled coil, Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4443 Eukaryota
COG2940 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000155281

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8NEZ4

KEGG Orthology (KO)

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KOi
K09188

Identification of Orthologs from Complete Genome Data

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OMAi
YREDDLI

Database of Orthologous Groups

More...
OrthoDBi
61027at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8NEZ4

TreeFam database of animal gene trees

More...
TreeFami
TF354317

Family and domain databases

Conserved Domains Database

More...
CDDi
cd15696 ePHD1_KMT2C, 1 hit
cd15697 ePHD2_KMT2C, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.30.10, 1 hit
3.30.40.10, 7 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR034732 EPHD
IPR003889 FYrich_C
IPR003888 FYrich_N
IPR009071 HMG_box_dom
IPR036910 HMG_box_dom_sf
IPR000637 HMGI/Y_DNA-bd_CS
IPR037877 KMT2C
IPR041967 KMT2C_ePHD1
IPR041968 KMT2C_ePHD2
IPR003616 Post-SET_dom
IPR001214 SET_dom
IPR011011 Znf_FYVE_PHD
IPR001965 Znf_PHD
IPR019787 Znf_PHD-finger
IPR001841 Znf_RING
IPR013083 Znf_RING/FYVE/PHD

The PANTHER Classification System

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PANTHERi
PTHR45888:SF1 PTHR45888:SF1, 2 hits

Pfam protein domain database

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Pfami
View protein in Pfam
PF05965 FYRC, 1 hit
PF05964 FYRN, 1 hit
PF00628 PHD, 2 hits
PF00856 SET, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00542 FYRC, 1 hit
SM00541 FYRN, 1 hit
SM00398 HMG, 1 hit
SM00249 PHD, 8 hits
SM00508 PostSET, 1 hit
SM00184 RING, 4 hits
SM00317 SET, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF47095 SSF47095, 1 hit
SSF57903 SSF57903, 6 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50216 DHHC, 1 hit
PS51805 EPHD, 2 hits
PS51543 FYRC, 1 hit
PS51542 FYRN, 1 hit
PS00354 HMGI_Y, 1 hit
PS50868 POST_SET, 1 hit
PS50280 SET, 1 hit
PS01359 ZF_PHD_1, 5 hits
PS50016 ZF_PHD_2, 6 hits
PS50089 ZF_RING_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)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 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.<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: Q8NEZ4-1) [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
MSSEEDKSVE QPQPPPPPPE EPGAPAPSPA AADKRPRGRP RKDGASPFQR
60 70 80 90 100
ARKKPRSRGK TAVEDEDSMD GLETTETETI VETEIKEQSA EEDAEAEVDN
110 120 130 140 150
SKQLIPTLQR SVSEESANSL VSVGVEAKIS EQLCAFCYCG EKSSLGQGDL
160 170 180 190 200
KQFRITPGFI LPWRNQPSNK KDIDDNSNGT YEKMQNSAPR KQRGQRKERS
210 220 230 240 250
PQQNIVSCVS VSTQTASDDQ AGKLWDELSL VGLPDAIDIQ ALFDSTGTCW
260 270 280 290 300
AHHRCVEWSL GVCQMEEPLL VNVDKAVVSG STERCAFCKH LGATIKCCEE
310 320 330 340 350
KCTQMYHYPC AAGAGTFQDF SHIFLLCPEH IDQAPERSKE DANCAVCDSP
360 370 380 390 400
GDLLDQFFCT TCGQHYHGMC LDIAVTPLKR AGWQCPECKV CQNCKQSGED
410 420 430 440 450
SKMLVCDTCD KGYHTFCLQP VMKSVPTNGW KCKNCRICIE CGTRSSSQWH
460 470 480 490 500
HNCLICDNCY QQQDNLCPFC GKCYHPELQK DMLHCNMCKR WVHLECDKPT
510 520 530 540 550
DHELDTQLKE EYICMYCKHL GAEMDRLQPG EEVEIAELTT DYNNEMEVEG
560 570 580 590 600
PEDQMVFSEQ AANKDVNGQE STPGIVPDAV QVHTEEQQKS HPSESLDTDS
610 620 630 640 650
LLIAVSSQHT VNTELEKQIS NEVDSEDLKM SSEVKHICGE DQIEDKMEVT
660 670 680 690 700
ENIEVVTHQI TVQQEQLQLL EEPETVVSRE ESRPPKLVME SVTLPLETLV
710 720 730 740 750
SPHEESISLC PEEQLVIERL QGEKEQKENS ELSTGLMDSE MTPTIEGCVK
760 770 780 790 800
DVSYQGGKSI KLSSETESSF SSSADISKAD VSSSPTPSSD LPSHDMLHNY
810 820 830 840 850
PSALSSSAGN IMPTTYISVT PKIGMGKPAI TKRKFSPGRP RSKQGAWSTH
860 870 880 890 900
NTVSPPSWSP DISEGREIFK PRQLPGSAIW SIKVGRGSGF PGKRRPRGAG
910 920 930 940 950
LSGRGGRGRS KLKSGIGAVV LPGVSTADIS SNKDDEENSM HNTVVLFSSS
960 970 980 990 1000
DKFTLNQDMC VVCGSFGQGA EGRLLACSQC GQCYHPYCVS IKITKVVLSK
1010 1020 1030 1040 1050
GWRCLECTVC EACGKATDPG RLLLCDDCDI SYHTYCLDPP LQTVPKGGWK
1060 1070 1080 1090 1100
CKWCVWCRHC GATSAGLRCE WQNNYTQCAP CASLSSCPVC YRNYREEDLI
1110 1120 1130 1140 1150
LQCRQCDRWM HAVCQNLNTE EEVENVADIG FDCSMCRPYM PASNVPSSDC
1160 1170 1180 1190 1200
CESSLVAQIV TKVKELDPPK TYTQDGVCLT ESGMTQLQSL TVTVPRRKRS
1210 1220 1230 1240 1250
KPKLKLKIIN QNSVAVLQTP PDIQSEHSRD GEMDDSREGE LMDCDGKSES
1260 1270 1280 1290 1300
SPEREAVDDE TKGVEGTDGV KKRKRKPYRP GIGGFMVRQR SRTGQGKTKR
1310 1320 1330 1340 1350
SVIRKDSSGS ISEQLPCRDD GWSEQLPDTL VDESVSVTES TEKIKKRYRK
1360 1370 1380 1390 1400
RKNKLEETFP AYLQEAFFGK DLLDTSRQSK ISLDNLSEDG AQLLYKTNMN
1410 1420 1430 1440 1450
TGFLDPSLDP LLSSSSAPTK SGTHGPADDP LADISEVLNT DDDILGIISD
1460 1470 1480 1490 1500
DLAKSVDHSD IGPVTDDPSS LPQPNVNQSS RPLSEEQLDG ILSPELDKMV
1510 1520 1530 1540 1550
TDGAILGKLY KIPELGGKDV EDLFTAVLSP ANTQPTPLPQ PPPPTQLLPI
1560 1570 1580 1590 1600
HNQDAFSRMP LMNGLIGSSP HLPHNSLPPG SGLGTFSAIA QSSYPDARDK
1610 1620 1630 1640 1650
NSAFNPMASD PNNSWTSSAP TVEGENDTMS NAQRSTLKWE KEEALGEMAT
1660 1670 1680 1690 1700
VAPVLYTNIN FPNLKEEFPD WTTRVKQIAK LWRKASSQER APYVQKARDN
1710 1720 1730 1740 1750
RAALRINKVQ MSNDSMKRQQ QQDSIDPSSR IDSELFKDPL KQRESEHEQE
1760 1770 1780 1790 1800
WKFRQQMRQK SKQQAKIEAT QKLEQVKNEQ QQQQQQQFGS QHLLVQSGSD
1810 1820 1830 1840 1850
TPSSGIQSPL TPQPGNGNMS PAQSFHKELF TKQPPSTPTS TSSDDVFVKP
1860 1870 1880 1890 1900
QAPPPPPAPS RIPIQDSLSQ AQTSQPPSPQ VFSPGSSNSR PPSPMDPYAK
1910 1920 1930 1940 1950
MVGTPRPPPV GHSFSRRNSA APVENCTPLS SVSRPLQMNE TTANRPSPVR
1960 1970 1980 1990 2000
DLCSSSTTNN DPYAKPPDTP RPVMTDQFPK SLGLSRSPVV SEQTAKGPIA
2010 2020 2030 2040 2050
AGTSDHFTKP SPRADVFQRQ RIPDSYARPL LTPAPLDSGP GPFKTPMQPP
2060 2070 2080 2090 2100
PSSQDPYGSV SQASRRLSVD PYERPALTPR PIDNFSHNQS NDPYSQPPLT
2110 2120 2130 2140 2150
PHPAVNESFA HPSRAFSQPG TISRPTSQDP YSQPPGTPRP VVDSYSQSSG
2160 2170 2180 2190 2200
TARSNTDPYS QPPGTPRPTT VDPYSQQPQT PRPSTQTDLF VTPVTNQRHS
2210 2220 2230 2240 2250
DPYAHPPGTP RPGISVPYSQ PPATPRPRIS EGFTRSSMTR PVLMPNQDPF
2260 2270 2280 2290 2300
LQAAQNRGPA LPGPLVRPPD TCSQTPRPPG PGLSDTFSRV SPSAARDPYD
2310 2320 2330 2340 2350
QSPMTPRSQS DSFGTSQTAH DVADQPRPGS EGSFCASSNS PMHSQGQQFS
2360 2370 2380 2390 2400
GVSQLPGPVP TSGVTDTQNT VNMAQADTEK LRQRQKLREI ILQQQQQKKI
2410 2420 2430 2440 2450
AGRQEKGSQD SPAVPHPGPL QHWQPENVNQ AFTRPPPPYP GNIRSPVAPP
2460 2470 2480 2490 2500
LGPRYAVFPK DQRGPYPPDV ASMGMRPHGF RFGFPGGSHG TMPSQERFLV
2510 2520 2530 2540 2550
PPQQIQGSGV SPQLRRSVSV DMPRPLNNSQ MNNPVGLPQH FSPQSLPVQQ
2560 2570 2580 2590 2600
HNILGQAYIE LRHRAPDGRQ RLPFSAPPGS VVEASSNLRH GNFIPRPDFP
2610 2620 2630 2640 2650
GPRHTDPMRR PPQGLPNQLP VHPDLEQVPP SQQEQGHSVH SSSMVMRTLN
2660 2670 2680 2690 2700
HPLGGEFSEA PLSTSVPSET TSDNLQITTQ PSDGLEEKLD SDDPSVKELD
2710 2720 2730 2740 2750
VKDLEGVEVK DLDDEDLENL NLDTEDGKVV ELDTLDNLET NDPNLDDLLR
2760 2770 2780 2790 2800
SGEFDIIAYT DPELDMGDKK SMFNEELDLP IDDKLDNQCV SVEPKKKEQE
2810 2820 2830 2840 2850
NKTLVLSDKH SPQKKSTVTN EVKTEVLSPN SKVESKCETE KNDENKDNVD
2860 2870 2880 2890 2900
TPCSQASAHS DLNDGEKTSL HPCDPDLFEK RTNRETAGPS ANVIQASTQL
2910 2920 2930 2940 2950
PAQDVINSCG ITGSTPVLSS LLANEKSDNS DIRPSGSPPP PTLPASPSNH
2960 2970 2980 2990 3000
VSSLPPFIAP PGRVLDNAMN SNVTVVSRVN HVFSQGVQVN PGLIPGQSTV
3010 3020 3030 3040 3050
NHSLGTGKPA TQTGPQTSQS GTSSMSGPQQ LMIPQTLAQQ NRERPLLLEE
3060 3070 3080 3090 3100
QPLLLQDLLD QERQEQQQQR QMQAMIRQRS EPFFPNIDFD AITDPIMKAK
3110 3120 3130 3140 3150
MVALKGINKV MAQNNLGMPP MVMSRFPFMG QVVTGTQNSE GQNLGPQAIP
3160 3170 3180 3190 3200
QDGSITHQIS RPNPPNFGPG FVNDSQRKQY EEWLQETQQL LQMQQKYLEE
3210 3220 3230 3240 3250
QIGAHRKSKK ALSAKQRTAK KAGREFPEED AEQLKHVTEQ QSMVQKQLEQ
3260 3270 3280 3290 3300
IRKQQKEHAE LIEDYRIKQQ QQCAMAPPTM MPSVQPQPPL IPGATPPTMS
3310 3320 3330 3340 3350
QPTFPMVPQQ LQHQQHTTVI SGHTSPVRMP SLPGWQPNSA PAHLPLNPPR
3360 3370 3380 3390 3400
IQPPIAQLPI KTCTPAPGTV SNANPQSGPP PRVEFDDNNP FSESFQERER
3410 3420 3430 3440 3450
KERLREQQER QRIQLMQEVD RQRALQQRME MEQHGMVGSE ISSSRTSVSQ
3460 3470 3480 3490 3500
IPFYSSDLPC DFMQPLGPLQ QSPQHQQQMG QVLQQQNIQQ GSINSPSTQT
3510 3520 3530 3540 3550
FMQTNERRQV GPPSFVPDSP SIPVGSPNFS SVKQGHGNLS GTSFQQSPVR
3560 3570 3580 3590 3600
PSFTPALPAA PPVANSSLPC GQDSTITHGH SYPGSTQSLI QLYSDIIPEE
3610 3620 3630 3640 3650
KGKKKRTRKK KRDDDAESTK APSTPHSDIT APPTPGISET TSTPAVSTPS
3660 3670 3680 3690 3700
ELPQQADQES VEPVGPSTPN MAAGQLCTEL ENKLPNSDFS QATPNQQTYA
3710 3720 3730 3740 3750
NSEVDKLSME TPAKTEEIKL EKAETESCPG QEEPKLEEQN GSKVEGNAVA
3760 3770 3780 3790 3800
CPVSSAQSPP HSAGAPAAKG DSGNELLKHL LKNKKSSSLL NQKPEGSICS
3810 3820 3830 3840 3850
EDDCTKDNKL VEKQNPAEGL QTLGAQMQGG FGCGNQLPKT DGGSETKKQR
3860 3870 3880 3890 3900
SKRTQRTGEK AAPRSKKRKK DEEEKQAMYS STDTFTHLKQ QNNLSNPPTP
3910 3920 3930 3940 3950
PASLPPTPPP MACQKMANGF ATTEELAGKA GVLVSHEVTK TLGPKPFQLP
3960 3970 3980 3990 4000
FRPQDDLLAR ALAQGPKTVD VPASLPTPPH NNQEELRIQD HCGDRDTPDS
4010 4020 4030 4040 4050
FVPSSSPESV VGVEVSRYPD LSLVKEEPPE PVPSPIIPIL PSTAGKSSES
4060 4070 4080 4090 4100
RRNDIKTEPG TLYFASPFGP SPNGPRSGLI SVAITLHPTA AENISSVVAA
4110 4120 4130 4140 4150
FSDLLHVRIP NSYEVSSAPD VPSMGLVSSH RINPGLEYRQ HLLLRGPPPG
4160 4170 4180 4190 4200
SANPPRLVSS YRLKQPNVPF PPTSNGLSGY KDSSHGIAES AALRPQWCCH
4210 4220 4230 4240 4250
CKVVILGSGV RKSFKDLTLL NKDSRESTKR VEKDIVFCSN NCFILYSSTA
4260 4270 4280 4290 4300
QAKNSENKES IPSLPQSPMR ETPSKAFHQY SNNISTLDVH CLPQLPEKAS
4310 4320 4330 4340 4350
PPASPPIAFP PAFEAAQVEA KPDELKVTVK LKPRLRAVHG GFEDCRPLNK
4360 4370 4380 4390 4400
KWRGMKWKKW SIHIVIPKGT FKPPCEDEID EFLKKLGTSL KPDPVPKDYR
4410 4420 4430 4440 4450
KCCFCHEEGD GLTDGPARLL NLDLDLWVHL NCALWSTEVY ETQAGALINV
4460 4470 4480 4490 4500
ELALRRGLQM KCVFCHKTGA TSGCHRFRCT NIYHFTCAIK AQCMFFKDKT
4510 4520 4530 4540 4550
MLCPMHKPKG IHEQELSYFA VFRRVYVQRD EVRQIASIVQ RGERDHTFRV
4560 4570 4580 4590 4600
GSLIFHTIGQ LLPQQMQAFH SPKALFPVGY EASRLYWSTR YANRRCRYLC
4610 4620 4630 4640 4650
SIEEKDGRPV FVIRIVEQGH EDLVLSDISP KGVWDKILEP VACVRKKSEM
4660 4670 4680 4690 4700
LQLFPAYLKG EDLFGLTVSA VARIAESLPG VEACENYTFR YGRNPLMELP
4710 4720 4730 4740 4750
LAVNPTGCAR SEPKMSAHVK RFVLRPHTLN STSTSKSFQS TVTGELNAPY
4760 4770 4780 4790 4800
SKQFVHSKSS QYRKMKTEWK SNVYLARSRI QGLGLYAARD IEKHTMVIEY
4810 4820 4830 4840 4850
IGTIIRNEVA NRKEKLYESQ NRGVYMFRMD NDHVIDATLT GGPARYINHS
4860 4870 4880 4890 4900
CAPNCVAEVV TFERGHKIII SSSRRIQKGE ELCYDYKFDF EDDQHKIPCH
4910
CGAVNCRKWM N
Length:4,911
Mass (Da):541,370
Last modified:January 20, 2009 - 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:i898CEE324772BD75
GO
Isoform 2 (identifier: Q8NEZ4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-939: Missing.
     3890-3890: Q → QVRQLSLLPLMEPIIGVNFAHFLPYGSGQFNSGNRLLGTFGSATLEGVSDYYSQLIYK
     4721-4724: Missing.

Note: No experimental confirmation available.
Show »
Length:4,025
Mass (Da):443,538
Checksum:i41624149C28E4BDE
GO
Isoform 3 (identifier: Q8NEZ4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     3890-3890: Q → QVRQLSLLPLMEPIIGVNFAHFLPYGSGQFNSGNRLLGTFGSATLEGVSDYYSQLIYK

Note: No experimental confirmation available.
Show »
Length:4,968
Mass (Da):547,633
Checksum:i7D6E36D9FA78714B
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
H0Y765H0Y765_HUMAN
Histone-lysine N-methyltransferase ...
KMT2C
1,524Annotation 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>
H7BY37H7BY37_HUMAN
Histone-lysine N-methyltransferase ...
KMT2C
2,441Annotation 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>
H0YMU7H0YMU7_HUMAN
Histone-lysine N-methyltransferase ...
KMT2C
826Annotation 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>
C9J4Z5C9J4Z5_HUMAN
Histone-lysine N-methyltransferase ...
KMT2C
155Annotation 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>
H0YNL4H0YNL4_HUMAN
Histone-lysine N-methyltransferase ...
KMT2C
179Annotation 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>
H7C212H7C212_HUMAN
Histone-lysine N-methyltransferase ...
KMT2C
228Annotation 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>
H7C2V8H7C2V8_HUMAN
Histone-lysine N-methyltransferase ...
KMT2C
236Annotation 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>

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 conflicti579A → T in AAK00583 (PubMed:11891048).Curated1
Sequence conflicti1286M → V in AAK00583 (PubMed:11891048).Curated1
Sequence conflicti2360P → S in AAK00583 (PubMed:11891048).Curated1
Sequence conflicti2797K → R in AAK00583 (PubMed:11891048).Curated1
Sequence conflicti2882T → A in AAK00583 (PubMed:11891048).Curated1
Sequence conflicti3289P → S in BAC11409 (PubMed:14702039).Curated1
Sequence conflicti3428R → W in BAC11409 (PubMed:14702039).Curated1
Sequence conflicti4613I → V in AK022687 (PubMed:14702039).Curated1
Sequence conflicti4866H → P in AK022687 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_061911291L → F. Corresponds to variant dbSNP:rs56850341Ensembl.1
Natural variantiVAR_061912316T → S. Corresponds to variant dbSNP:rs10454320Ensembl.1
Natural variantiVAR_036311347C → G in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_036312400D → N in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_036313478L → W in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_057360526R → P1 PublicationCorresponds to variant dbSNP:rs3735156EnsemblClinVar.1
Natural variantiVAR_080246564 – 4911Missing in KLEFS2. 1 PublicationAdd BLAST4348
Natural variantiVAR_017118823I → N. Corresponds to variant dbSNP:rs2838171Ensembl.1
Natural variantiVAR_017117823I → T. Corresponds to variant dbSNP:rs2838171Ensembl.1
Natural variantiVAR_0802471481 – 4911Missing in KLEFS2. 1 PublicationAdd BLAST3431
Natural variantiVAR_0573611836S → N. Corresponds to variant dbSNP:rs11771635Ensembl.1
Natural variantiVAR_0573622008T → A. Corresponds to variant dbSNP:rs6951159EnsemblClinVar.1
Natural variantiVAR_0573632412P → T. Corresponds to variant dbSNP:rs13231116EnsemblClinVar.1
Natural variantiVAR_0802482517 – 4911Missing in KLEFS2. 1 PublicationAdd BLAST2395
Natural variantiVAR_0573642600P → A. Corresponds to variant dbSNP:rs2270234Ensembl.1
Natural variantiVAR_0363143698T → S in a colorectal cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0085611 – 939Missing in isoform 2. 1 PublicationAdd BLAST939
Alternative sequenceiVSP_0085623890Q → QVRQLSLLPLMEPIIGVNFA HFLPYGSGQFNSGNRLLGTF GSATLEGVSDYYSQLIYK in isoform 2 and isoform 3. 1 Publication1
Alternative sequenceiVSP_0362234721 – 4724Missing in isoform 2. 1 Publication4

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
AY024361 mRNA Translation: AAK00583.1
AF264750 mRNA Translation: AAF74766.2
AC006017 Genomic DNA Translation: AAD45822.1
AC104692 Genomic DNA No translation available.
AC005631 Genomic DNA No translation available.
AB040939 mRNA Translation: BAA96030.2
AK022687 mRNA No translation available.
AK075113 mRNA Translation: BAC11409.1
AL833924 mRNA Translation: CAD38780.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS5931.1 [Q8NEZ4-1]

NCBI Reference Sequences

More...
RefSeqi
NP_733751.2, NM_170606.2 [Q8NEZ4-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000262189; ENSP00000262189; ENSG00000055609 [Q8NEZ4-1]
ENST00000355193; ENSP00000347325; ENSG00000055609 [Q8NEZ4-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
58508

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:58508

UCSC genome browser

More...
UCSCi
uc003wla.3 human [Q8NEZ4-1]

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
AY024361 mRNA Translation: AAK00583.1
AF264750 mRNA Translation: AAF74766.2
AC006017 Genomic DNA Translation: AAD45822.1
AC104692 Genomic DNA No translation available.
AC005631 Genomic DNA No translation available.
AB040939 mRNA Translation: BAA96030.2
AK022687 mRNA No translation available.
AK075113 mRNA Translation: BAC11409.1
AL833924 mRNA Translation: CAD38780.1
CCDSiCCDS5931.1 [Q8NEZ4-1]
RefSeqiNP_733751.2, NM_170606.2 [Q8NEZ4-1]

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
2YSMNMR-A342-439[»]
2YUKNMR-A1631-1713[»]
3UVLX-ray2.20B4707-4717[»]
4ERYX-ray1.30D4703-4716[»]
5F59X-ray2.80A4757-4910[»]
5F6KX-ray2.41C/E4757-4911[»]
6MLCX-ray1.80A/B/C/D1055-1144[»]
SMRiQ8NEZ4
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi121835, 34 interactors
CORUMiQ8NEZ4
DIPiDIP-48649N
IntActiQ8NEZ4, 25 interactors
MINTiQ8NEZ4
STRINGi9606.ENSP00000262189

Chemistry databases

BindingDBiQ8NEZ4
ChEMBLiCHEMBL2189113

PTM databases

iPTMnetiQ8NEZ4
PhosphoSitePlusiQ8NEZ4

Polymorphism and mutation databases

BioMutaiKMT2C
DMDMi221222521

Proteomic databases

EPDiQ8NEZ4
jPOSTiQ8NEZ4
MassIVEiQ8NEZ4
MaxQBiQ8NEZ4
PaxDbiQ8NEZ4
PeptideAtlasiQ8NEZ4
PRIDEiQ8NEZ4
ProteomicsDBi73252 [Q8NEZ4-1]
73253 [Q8NEZ4-2]
73254 [Q8NEZ4-3]

Genome annotation databases

EnsembliENST00000262189; ENSP00000262189; ENSG00000055609 [Q8NEZ4-1]
ENST00000355193; ENSP00000347325; ENSG00000055609 [Q8NEZ4-1]
GeneIDi58508
KEGGihsa:58508
UCSCiuc003wla.3 human [Q8NEZ4-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
58508
DisGeNETi58508

GeneCards: human genes, protein and diseases

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GeneCardsi
KMT2C
HGNCiHGNC:13726 KMT2C
HPAiHPA074736
MalaCardsiKMT2C
MIMi606833 gene
617768 phenotype
neXtProtiNX_Q8NEZ4
OpenTargetsiENSG00000055609
Orphaneti261652 Kleefstra syndrome due to a point mutation
PharmGKBiPA30847

Human Unidentified Gene-Encoded large proteins database

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HUGEi
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GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG4443 Eukaryota
COG2940 LUCA
GeneTreeiENSGT00940000155281
InParanoidiQ8NEZ4
KOiK09188
OMAiYREDDLI
OrthoDBi61027at2759
PhylomeDBiQ8NEZ4
TreeFamiTF354317

Enzyme and pathway databases

ReactomeiR-HSA-3214841 PKMTs methylate histone lysines
R-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogenesis
R-HSA-8936459 RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function

Miscellaneous databases

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

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ChiTaRSi
KMT2C human
EvolutionaryTraceiQ8NEZ4

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
MLL3

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

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GenomeRNAii
58508
PharosiQ8NEZ4

Protein Ontology

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PROi
PR:Q8NEZ4

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000055609 Expressed in 216 organ(s), highest expression level in placenta
ExpressionAtlasiQ8NEZ4 baseline and differential
GenevisibleiQ8NEZ4 HS

Family and domain databases

CDDicd15696 ePHD1_KMT2C, 1 hit
cd15697 ePHD2_KMT2C, 1 hit
Gene3Di1.10.30.10, 1 hit
3.30.40.10, 7 hits
InterProiView protein in InterPro
IPR034732 EPHD
IPR003889 FYrich_C
IPR003888 FYrich_N
IPR009071 HMG_box_dom
IPR036910 HMG_box_dom_sf
IPR000637 HMGI/Y_DNA-bd_CS
IPR037877 KMT2C
IPR041967 KMT2C_ePHD1
IPR041968 KMT2C_ePHD2
IPR003616 Post-SET_dom
IPR001214 SET_dom
IPR011011 Znf_FYVE_PHD
IPR001965 Znf_PHD
IPR019787 Znf_PHD-finger
IPR001841 Znf_RING
IPR013083 Znf_RING/FYVE/PHD
PANTHERiPTHR45888:SF1 PTHR45888:SF1, 2 hits
PfamiView protein in Pfam
PF05965 FYRC, 1 hit
PF05964 FYRN, 1 hit
PF00628 PHD, 2 hits
PF00856 SET, 1 hit
SMARTiView protein in SMART
SM00542 FYRC, 1 hit
SM00541 FYRN, 1 hit
SM00398 HMG, 1 hit
SM00249 PHD, 8 hits
SM00508 PostSET, 1 hit
SM00184 RING, 4 hits
SM00317 SET, 1 hit
SUPFAMiSSF47095 SSF47095, 1 hit
SSF57903 SSF57903, 6 hits
PROSITEiView protein in PROSITE
PS50216 DHHC, 1 hit
PS51805 EPHD, 2 hits
PS51543 FYRC, 1 hit
PS51542 FYRN, 1 hit
PS00354 HMGI_Y, 1 hit
PS50868 POST_SET, 1 hit
PS50280 SET, 1 hit
PS01359 ZF_PHD_1, 5 hits
PS50016 ZF_PHD_2, 6 hits
PS50089 ZF_RING_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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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 nameiKMT2C_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: Q8NEZ4
Secondary accession number(s): Q8NC02
, Q8NDF6, Q9H9P4, Q9NR13, Q9P222, Q9UDR7
<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: October 10, 2003
Last sequence update: January 20, 2009
Last modified: October 16, 2019
This is version 179 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, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: 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. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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