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Aliases for KMT5A Gene

Aliases for KMT5A Gene

  • Lysine Methyltransferase 5A 2 3 5
  • SET Domain Containing (Lysine Methyltransferase) 8 2 3
  • Lysine (K)-Specific Methyltransferase 5A 2 3
  • Histone-Lysine N-Methyltransferase KMT5A 3 4
  • PR/SET Domain-Containing Protein 07 3 4
  • SET Domain-Containing Protein 8 3 4
  • Lysine N-Methyltransferase 5A 3 4
  • Lysine-Specific Methylase 5A 3 4
  • H4-K20-HMTase KMT5A 3 4
  • EC 2.1.1.43 4 58
  • PR/SET07 3 4
  • PR-Set7 3 4
  • SETD8 3 4
  • SET07 3 4
  • SET8 3 4
  • H4K20-Specific Histone Methyltransferase Splice Variant Set8b 3
  • H4-K20-Specific Histone Methyltransferase 3
  • Histone-Lysine N-Methyltransferase SETD8 3
  • PR/SET Domain Containing Protein 8 3
  • N-Lysine Methyltransferase KMT5A 3
  • N-Lysine Methyltransferase SETD8 3
  • H4-K20-HMTase SETD8 3
  • EC 2.1.1.- 4
  • PRSET7 4

External Ids for KMT5A Gene

Previous HGNC Symbols for KMT5A Gene

  • SETD8

Summaries for KMT5A Gene

Entrez Gene Summary for KMT5A Gene

  • The protein encoded by this gene is a protein-lysine N-methyltransferase that can monomethylate Lys-20 of histone H4 to effect transcriptional repression of some genes. The encoded protein is required for cell proliferation and plays a role in chromatin condensation. [provided by RefSeq, May 2016]

GeneCards Summary for KMT5A Gene

KMT5A (Lysine Methyltransferase 5A) is a Protein Coding gene. Among its related pathways are Cell Cycle, Mitotic and Chromatin organization.

UniProtKB/Swiss-Prot for KMT5A Gene

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

Gene Wiki entry for KMT5A Gene

Additional gene information for KMT5A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KMT5A Gene

Genomics for KMT5A Gene

Regulatory Elements for KMT5A Gene

Enhancers for KMT5A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12H122919 1.2 ENCODE dbSUPER 29 -463.8 -463767 1 ZNF493 ZFP64 ZEB1 ZNF155 ZNF121 ZNF138 ZNF354C FOS KLF7 ZNF202 EIF2B1 RSRC2 DDX55 ZCCHC8 ENSG00000235423 ATP6V0A2 LOC101927415 C12orf65 TCTN2 OGFOD2
GH12H123711 1.7 FANTOM5 ENCODE dbSUPER 11.3 +329.7 329665 4 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZBTB7B ZNF143 SP3 SP5 TCTN2 DDX55 DNAH10 EIF2B1 C12orf65 KMT5A ENSG00000270130 LOC101927415 ATP6V0A2 ENSG00000239215
GH12H122427 0.8 dbSUPER 19.5 -956.1 -956108 0 ZBTB21 ZNF493 ZNF140 ZNF266 CEBPG ZNF697 ZNF664 ZNF791 ZNF354C ZNF19 RSRC2 ZCCHC8 ENSG00000235423 ENSG00000272849 SETD1B C12orf65 KNTC1 OGFOD2 LINC01089 PSMD9
GH12H123582 1.2 ENCODE 11.4 +200.4 200422 3 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 LOC101927415 DDX55 EIF2B1 TCTN2 ATP6V0A2 NCOR2 DNAH10OS KMT5A ENSG00000270028 GTF2H3
GH12H123600 1.2 ENCODE 11.3 +218.4 218374 2 ZFP64 FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC ZC3H11A ZFP41 SSRP1 LOC101927415 C12orf65 DDX55 EIF2B1 TCTN2 SBNO1 ENSG00000239215 DNAH10OS KMT5A ENSG00000270130
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KMT5A on UCSC Golden Path with GeneCards custom track

Promoters for KMT5A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000058735 327 2201 HDGF PKNOX1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

Genomic Location for KMT5A Gene

Chromosome:
12
Start:
123,383,773 bp from pter
End:
123,409,358 bp from pter
Size:
25,586 bases
Orientation:
Plus strand

Genomic View for KMT5A Gene

Genes around KMT5A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KMT5A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KMT5A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KMT5A Gene

Proteins for KMT5A Gene

  • Protein details for KMT5A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NQR1-KMT5A_HUMAN
    Recommended name:
    N-lysine methyltransferase KMT5A
    Protein Accession:
    Q9NQR1
    Secondary Accessions:
    • A8K9D0
    • Q86W83
    • Q8TD09

    Protein attributes for KMT5A Gene

    Size:
    393 amino acids
    Molecular mass:
    42890 Da
    Quaternary structure:
    • Interacts with L3MBTL1. Isoform 2 interacts with SIRT2 (phosphorylated form); the interaction is direct, stimulates KMT5A-mediated methyltransferase activity at histone H4 Lys-20 (H4K20me1) and is increased in a H(2)O(2)-induced oxidative stress-dependent manner.
    SequenceCaution:
    • Sequence=AAL40879.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KMT5A Gene

    Alternative splice isoforms for KMT5A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KMT5A Gene

Selected DME Specific Peptides for KMT5A Gene

Q9NQR1:
  • RRSSRKSK
  • GNCQTKLH
  • VVEYHGDL
  • GEELLYDYGDR
  • GCYMYYF
  • GRLINHS
  • PLQEENSV

Post-translational modifications for KMT5A Gene

  • Acetylated at Lys-172; does not change methyltransferase activity. Deacetylated at Lys-172 by SIRT2; does not change methyltransferase activity.
  • Ubiquitinated and degraded by the DCX(DTL) complex.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for KMT5A (SETD8)

Domains & Families for KMT5A Gene

Gene Families for KMT5A Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for KMT5A Gene

Suggested Antigen Peptide Sequences for KMT5A Gene

Graphical View of Domain Structure for InterPro Entry

Q9NQR1

UniProtKB/Swiss-Prot:

KMT5A_HUMAN :
  • Although the SET domain contains the active site of enzymatic activity, both sequences upstream and downstream of the SET domain are required for methyltransferase activity.
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. PR/SET subfamily.
Domain:
  • Although the SET domain contains the active site of enzymatic activity, both sequences upstream and downstream of the SET domain are required for methyltransferase activity.
Family:
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. PR/SET subfamily.
genes like me logo Genes that share domains with KMT5A: view

Function for KMT5A Gene

Molecular function for KMT5A Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone].
UniProtKB/Swiss-Prot Function:
Protein-lysine N-methyltransferase that monomethylates both histones and non-histone proteins. Specifically monomethylates Lys-20 of histone H4 (H4K20me1). H4K20me1 is enriched during mitosis and represents a specific tag for epigenetic transcriptional repression. Mainly functions in euchromatin regions, thereby playing a central role in the silencing of euchromatic genes. Required for cell proliferation, probably by contributing to the maintenance of proper higher-order structure of DNA during mitosis. Involved in chromosome condensation and proper cytokinesis. Nucleosomes are preferred as substrate compared to free histones. Mediates monomethylation of p53/TP53 at Lys-382, leading to repress p53/TP53-target genes. Plays a negative role in TGF-beta response regulation and a positive role in cell migration.
UniProtKB/Swiss-Prot Induction:
By HCFC1 C-terminal chain, independently of HCFC1 N-terminal chain. Transiently induced by TGF-beta and during the cell cycle.

Enzyme Numbers (IUBMB) for KMT5A Gene

Phenotypes From GWAS Catalog for KMT5A Gene

Gene Ontology (GO) - Molecular Function for KMT5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002039 p53 binding IPI 17707234
GO:0003714 transcription corepressor activity IDA 18408754
GO:0005515 protein binding IPI 15933069
GO:0008168 methyltransferase activity IEA --
GO:0016278 lysine N-methyltransferase activity TAS --
genes like me logo Genes that share ontologies with KMT5A: view
genes like me logo Genes that share phenotypes with KMT5A: view

Animal Models for KMT5A Gene

MGI Knock Outs for KMT5A:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for KMT5A
  • Applied Biological Materials Clones for KMT5A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KMT5A Gene

Localization for KMT5A Gene

Subcellular locations from UniProtKB/Swiss-Prot for KMT5A Gene

Nucleus. Chromosome. Note=Specifically localizes to mitotic chromosomes. Colocalized with SIRT2 at mitotic foci. Associates with chromosomes during mitosis; association is increased in a H(2)O(2)-induced oxidative stress-dependent manner. Associates with silent chromatin on euchromatic arms. Not associated with constitutive heterochromatin.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KMT5A gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for KMT5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with KMT5A: view

Pathways & Interactions for KMT5A Gene

genes like me logo Genes that share pathways with KMT5A: view

Pathways by source for KMT5A Gene

1 GeneTex pathway for KMT5A Gene
1 Cell Signaling Technology pathway for KMT5A Gene
2 BioSystems pathways for KMT5A Gene

SIGNOR curated interactions for KMT5A Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for KMT5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IMP 17707234
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007049 cell cycle IEA --
GO:0016569 covalent chromatin modification IEA --
genes like me logo Genes that share ontologies with KMT5A: view

Drugs & Compounds for KMT5A Gene

(5) Drugs for KMT5A Gene - From: ApexBio, DGIdb, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
s-adenosylhomocysteine Experimental Pharma 0
UNC0379 Pharma 0
NAHUOIC ACID A Pharma 0
Chaetocin Pharma SUV39H1 Inhibitor, SUV39H1 inhibitor 0
UNC 2400 Pharma negative control of UNC1999, Negative control of UNC 1999 (Cat. No. 4904) 0

(4) Additional Compounds for KMT5A Gene - From: Tocris and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
s-adenosylmethionine
  • (3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine
  • 2-S-Adenosyl-L-methionine
  • 5'-Deoxyadenosine-5'-L-methionine disulfate ditosylate
  • 5'-Deoxyadenosine-5'-L-methionine disulphate ditosylate
  • Active methionine
29908-03-0
(S)-PFI 2 hydrochloride
1627607-88-8
OICR 9429
UNC 0638
1255517-77-1

(5) Tocris Compounds for KMT5A Gene

Compound Action Cas Number
(S)-PFI 2 hydrochloride Negative control of (R)-PFI 2 hydrochloride (Cat. No. 4892) 1627607-88-8
Chaetocin SUV39H1 inhibitor 28097-03-2
OICR 9429 High affinity and selective WDR5 antagonist
UNC 0638 Selective G9a and GLP inhibitor 1255517-77-1
UNC 2400 Negative control of UNC 1999 (Cat. No. 4904) 1433200-49-7

(1) ApexBio Compounds for KMT5A Gene

Compound Action Cas Number
UNC0379 1620401-82-2
genes like me logo Genes that share compounds with KMT5A: view

Drug Products

Transcripts for KMT5A Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for KMT5A
  • Applied Biological Materials Clones for KMT5A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for KMT5A Gene

No ASD Table

Relevant External Links for KMT5A Gene

GeneLoc Exon Structure for
KMT5A
ECgene alternative splicing isoforms for
KMT5A

Expression for KMT5A Gene

NURSA nuclear receptor signaling pathways regulating expression of KMT5A Gene:

KMT5A

Evidence on tissue expression from TISSUES for KMT5A Gene

  • Lung(2.1)
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KMT5A Gene

Orthologs for KMT5A Gene

This gene was present in the common ancestor of animals.

Orthologs for KMT5A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SETD8 33 34
  • 99.34 (n)
cow
(Bos Taurus)
Mammalia SETD8 33 34
  • 93.18 (n)
dog
(Canis familiaris)
Mammalia SETD8 33 34
  • 92.77 (n)
mouse
(Mus musculus)
Mammalia Setd8 33 34
  • 89.24 (n)
Kmt5a 16
rat
(Rattus norvegicus)
Mammalia Setd8 33
  • 87.99 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SETD8 34
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SETD8 34
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves SETD8 33 34
  • 70.83 (n)
lizard
(Anolis carolinensis)
Reptilia SETD8 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia setd8 33
  • 61.38 (n)
Str.2643 33
zebrafish
(Danio rerio)
Actinopterygii setd8b 33 34
  • 65.26 (n)
setd8a 34
  • 47 (a)
OneToMany
wufj33f02 33
fruit fly
(Drosophila melanogaster)
Insecta pr-set7 34
  • 17 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea set-1 33 34
  • 51.2 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 31 (a)
OneToOne
Species where no ortholog for KMT5A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KMT5A Gene

ENSEMBL:
Gene Tree for KMT5A (if available)
TreeFam:
Gene Tree for KMT5A (if available)

Paralogs for KMT5A Gene

Pseudogenes.org Pseudogenes for KMT5A Gene

genes like me logo Genes that share paralogs with KMT5A: view

No data available for Paralogs for KMT5A Gene

Variants for KMT5A Gene

Sequence variations from dbSNP and Humsavar for KMT5A Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs193920812 Uncertain significance 123,395,044(+) GCCTG(A/C/T)AGAGA intron-variant
rs1000396139 -- 123,387,777(+) GCTTA(C/T)CTGTG intron-variant, upstream-variant-2KB
rs1000455265 -- 123,390,383(+) CAGCC(A/C/G)ACTCT intron-variant, upstream-variant-2KB
rs1000677631 -- 123,392,547(+) TAGTC(C/G)CAGCT intron-variant
rs1000739465 -- 123,388,204(+) CATTT(C/G)CTCAT intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for KMT5A Gene

Variant ID Type Subtype PubMed ID
dgv44e19 CNV loss 19470904
dgv885n106 CNV deletion 24896259
esv2417445 CNV deletion 18987734
esv2746505 CNV deletion 23290073
nsv1070559 CNV deletion 25765185
nsv826534 CNV gain 20364138

Variation tolerance for KMT5A Gene

Residual Variation Intolerance Score: 46.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.05; 21.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KMT5A Gene

Human Gene Mutation Database (HGMD)
KMT5A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KMT5A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KMT5A Gene

Disorders for KMT5A Gene

Relevant External Links for KMT5A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KMT5A

No disorders were found for KMT5A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KMT5A Gene

Publications for KMT5A Gene

  1. Modulation of p53 function by SET8-mediated methylation at lysine 382. (PMID: 17707234) Shi X … Gozani O (Molecular cell 2007) 3 4 22 60
  2. Structural and functional analysis of SET8, a histone H4 Lys-20 methyltransferase. (PMID: 15933070) Couture JF … Trievel RC (Genes & development 2005) 2 3 4 60
  3. Purification and functional characterization of SET8, a nucleosomal histone H4-lysine 20-specific methyltransferase. (PMID: 12121615) Fang J … Zhang Y (Current biology : CB 2002) 2 3 4 60
  4. PR-Set7 is a nucleosome-specific methyltransferase that modifies lysine 20 of histone H4 and is associated with silent chromatin. (PMID: 12086618) Nishioka K … Reinberg D (Molecular cell 2002) 2 3 4 60
  5. CRL1-FBXO11 promotes Cdt2 ubiquitylation and degradation and regulates Pr-Set7/Set8-mediated cellular migration. (PMID: 23478445) Abbas T … Dutta A (Molecular cell 2013) 3 4 60

Products for KMT5A Gene

  • Addgene plasmids for KMT5A

Sources for KMT5A Gene

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