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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 61
  • 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 Mitotic Prophase and Gene Expression.

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

No data available for 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
GH12F123512 0.5 ENCODE 11.4 +129.2 129236 0.2 HDGF ZSCAN18 ZNF211 ZNF493 ZNF223 CDC5L ZIC2 ZNF2 ZKSCAN1 ZNF335 EIF2B1 ATP6V0A2 KMT5A LOC105370046 LOC101927415 ENSG00000274427 PIR40920
GH12F123582 0.2 ENCODE 11.4 +200.4 200422 4.0 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 LOC101927415 EIF2B1 NCOR2 TCTN2 DDX55 ATP6V0A2 GTF2H3 KMT5A LOC105370046 ENSG00000235423
GH12F123049 1.2 Ensembl ENCODE 11.4 -333.4 -333363 2.7 ATF1 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF48 ZNF121 GLIS2 ZNF766 EIF2B1 ZCCHC8 LOC101927415 ENSG00000235423 TCTN2 C12orf65 ATP6V0A2 KNTC1 PITPNM2 KMT5A
GH12F123093 1.1 FANTOM5 Ensembl ENCODE 11.4 -287.1 -287059 6.3 HDGF PKNOX1 ARNT MLX CREB3L1 ARID4B SIN3A DMAP1 YBX1 ZNF2 EIF2B1 ZCCHC8 PITPNM2 ATP6V0A2 KMT5A ENSG00000235423 GTF2H3 DENR LOC101927415 ENSG00000256092
GH12F123028 0.8 ENCODE 11.4 -355.2 -355192 1.1 HDGF ZNF493 INSM2 GLI4 YBX1 NFXL1 ZNF2 ZNF155 GLIS2 EGR2 EIF2B1 ZCCHC8 ATP6V0A2 C12orf65 KMT5A ARL6IP4 LOC101927415 PITPNM2 GC12P123016 LOC100507091
- Elite enhancer/Elite enhancer-gene association Download Table
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
ENSR00001615895 427 2401 HDGF PKNOX1 ARNT CREB3L1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2

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

Domains & Families for KMT5A Gene

Gene Families for KMT5A Gene

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.
  • Contains 1 SET domain.
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

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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for KMT5A

Flow Cytometry Products

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.

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:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with KMT5A: view

No data available for Subcellular locations from COMPARTMENTS for KMT5A Gene

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:0007067 mitotic nuclear division IEA --
genes like me logo Genes that share ontologies with KMT5A: view

Drugs & Compounds for KMT5A Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
S-Adenosylmethionine Approved Nutra 0
s-adenosylhomocysteine Experimental Pharma 0
UNC0379 Pharma 0
NAHUOIC ACID A Pharma 0
Chaetocin Pharma SUV39H1 Inhibitor, SUV39H1 inhibitor 0

(3) Additional Compounds for KMT5A Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(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

Transcripts for KMT5A Gene

Unigene Clusters for KMT5A Gene

SET domain containing (lysine methyltransferase) 8:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for KMT5A

Flow Cytometry Products

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

SOURCE GeneReport for Unigene cluster for KMT5A Gene:

Hs.443735
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 and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.34 (n)
cow
(Bos Taurus)
Mammalia SETD8 34 35
  • 93.18 (n)
dog
(Canis familiaris)
Mammalia SETD8 34 35
  • 92.77 (n)
mouse
(Mus musculus)
Mammalia Setd8 34 35
  • 89.24 (n)
Kmt5a 16
rat
(Rattus norvegicus)
Mammalia Setd8 34
  • 87.99 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SETD8 35
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SETD8 35
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves SETD8 34 35
  • 70.83 (n)
lizard
(Anolis carolinensis)
Reptilia SETD8 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia setd8 34
  • 61.38 (n)
Str.2643 34
zebrafish
(Danio rerio)
Actinopterygii setd8b 34 35
  • 65.26 (n)
setd8a 35
  • 47 (a)
OneToMany
wufj33f02 34
fruit fly
(Drosophila melanogaster)
Insecta pr-set7 35
  • 17 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea set-1 34 35
  • 51.2 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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
rs111418154 -- 123,408,752(+) TCAGA(C/T)ACCCA nc-transcript-variant, utr-variant-3-prime
rs111626261 -- 123,401,637(+) AGTGC(A/G)GTGGT intron-variant
rs111644981 -- 123,383,153(+) TTTAG(C/T)AGAGA upstream-variant-2KB
rs111696037 -- 123,394,760(+) CTGCC(A/T)GCGTC intron-variant

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. (Mol. Cell 2007) 3 4 22 64
  2. Structural and functional analysis of SET8, a histone H4 'Lys-20' methyltransferase. (PMID: 15933070) Couture J.-F. … Trievel R.C. (Genes Dev. 2005) 2 3 4 64
  3. 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. (Mol. Cell 2002) 2 3 4 64
  4. Purification and functional characterization of SET8, a nucleosomal histone H4-lysine 20-specific methyltransferase. (PMID: 12121615) Fang J. … Zhang Y. (Curr. Biol. 2002) 2 3 4 64
  5. CRL1-FBXO11 promotes Cdt2 ubiquitylation and degradation and regulates Pr-Set7/Set8-mediated cellular migration. (PMID: 23478445) Abbas T. … Dutta A. (Mol. Cell 2013) 3 4 64

Products for KMT5A Gene

Sources for KMT5A Gene

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