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Aliases for SETD8 Gene

Aliases for SETD8 Gene

  • SET Domain Containing (Lysine Methyltransferase) 8 2 3
  • Histone-Lysine N-Methyltransferase SETD8 3 4
  • PR/SET Domain-Containing Protein 07 3 4
  • SET Domain-Containing Protein 8 3 4
  • Lysine N-Methyltransferase 5A 3 4
  • H4-K20-HMTase SETD8 3 4
  • EC 2.1.1.43 4 64
  • PR/SET07 3 4
  • PR-Set7 3 4
  • KMT5A 3 4
  • SET07 3 4
  • SET8 3 4
  • H4K20-Specific Histone Methyltransferase Splice Variant Set8b 3
  • H4-K20-Specific Histone Methyltransferase 3
  • PR/SET Domain Containing Protein 8 3
  • N-Lysine Methyltransferase SETD8 3
  • EC 2.1.1.- 4
  • PRSET7 4

External Ids for SETD8 Gene

Summaries for SETD8 Gene

GeneCards Summary for SETD8 Gene

SETD8 (SET Domain Containing (Lysine Methyltransferase) 8) is a Protein Coding gene. Among its related pathways are Cell Cycle, Mitotic and Cell Cycle, Mitotic. GO annotations related to this gene include transcription corepressor activity and histone-lysine N-methyltransferase activity.

UniProtKB/Swiss-Prot for SETD8 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 SETD8 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SETD8 Gene

Genomics for SETD8 Gene

Genomic Location for SETD8 Gene

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

Genomic View for SETD8 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SETD8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SETD8 Gene

Regulatory Elements for SETD8 Gene

Proteins for SETD8 Gene

  • Protein details for SETD8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NQR1-SETD8_HUMAN
    Recommended name:
    N-lysine methyltransferase SETD8
    Protein Accession:
    Q9NQR1
    Secondary Accessions:
    • A8K9D0
    • Q86W83
    • Q8TD09

    Protein attributes for SETD8 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 SETD8-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 SETD8 Gene

    Alternative splice isoforms for SETD8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SETD8 Gene

Proteomics data for SETD8 Gene at MOPED

Selected DME Specific Peptides for SETD8 Gene

Post-translational modifications for SETD8 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
  • Ubiquitination at Lys236 and Lys275

Other Protein References for SETD8 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for SETD8 Gene

Gene Families for SETD8 Gene

HGNC:
  • KMT :Chromatin-modifying enzymes / K-methyltransferases

Protein Domains for SETD8 Gene

UniProtKB/Swiss-Prot:

SETD8_HUMAN
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:
    • Q9NQR1
  • Contains 1 SET domain.:
    • Q9NQR1
Family:
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. PR/SET subfamily.:
    • Q9NQR1
genes like me logo Genes that share domains with SETD8: view

Function for SETD8 Gene

Molecular function for SETD8 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 SETD8 Gene

Gene Ontology (GO) - Molecular Function for SETD8 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:0016279 protein-lysine N-methyltransferase activity IDA 17707234
GO:0018024 histone-lysine N-methyltransferase activity IDA 17707234
genes like me logo Genes that share ontologies with SETD8: view
genes like me logo Genes that share phenotypes with SETD8: view

Animal Models for SETD8 Gene

MGI Knock Outs for SETD8:

miRNA for SETD8 Gene

No data available for Transcription Factor Targeting and HOMER Transcription for SETD8 Gene

Localization for SETD8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SETD8 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
Jensen Localization Image for SETD8 Gene COMPARTMENTS Subcellular localization image for SETD8 gene
Compartment Confidence
nucleus 5
cytosol 2
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SETD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
GO:0005730 nucleolus IDA --
genes like me logo Genes that share ontologies with SETD8: view

Pathways for SETD8 Gene

genes like me logo Genes that share pathways with SETD8: view

Pathways by source for SETD8 Gene

1 Cell Signaling Technology pathway for SETD8 Gene
1 BioSystems pathway for SETD8 Gene
1 KEGG pathway for SETD8 Gene

Gene Ontology (GO) - Biological Process for SETD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IMP 17707234
GO:0000278 mitotic cell cycle TAS --
GO:0006325 chromatin organization TAS --
GO:0006351 transcription, DNA-templated IEA --
GO:0007067 mitotic nuclear division IEA --
genes like me logo Genes that share ontologies with SETD8: view

Compounds for SETD8 Gene

(2) HMDB Compounds for SETD8 Gene

Compound Synonyms Cas Number PubMed IDs
S-Adenosylhomocysteine
  • (S)-5'-(S)-(3-Amino-3-carboxypropyl)-5'-thioadenosine
979-92-0
S-Adenosylmethionine
  • (3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine
29908-03-0
genes like me logo Genes that share compounds with SETD8: view

Transcripts for SETD8 Gene

Unigene Clusters for SETD8 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for SETD8 Gene

No ASD Table

Relevant External Links for SETD8 Gene

GeneLoc Exon Structure for
SETD8
ECgene alternative splicing isoforms for
SETD8

Expression for SETD8 Gene

mRNA expression in normal human tissues for SETD8 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SETD8 Gene

SOURCE GeneReport for Unigene cluster for SETD8 Gene Hs.443735

genes like me logo Genes that share expressions with SETD8: view

Orthologs for SETD8 Gene

This gene was present in the common ancestor of animals.

Orthologs for SETD8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SETD8 36
  • 99.34 (n)
  • 99.72 (a)
SETD8 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SETD8 36
  • 93.18 (n)
  • 93.18 (a)
SETD8 37
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SETD8 36
  • 92.77 (n)
  • 94.24 (a)
SETD8 37
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Setd8 36
  • 89.24 (n)
  • 91.43 (a)
Setd8 16
Setd8 37
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SETD8 37
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SETD8 37
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Setd8 36
  • 87.99 (n)
  • 92.24 (a)
chicken
(Gallus gallus)
Aves SETD8 36
  • 70.83 (n)
  • 75 (a)
SETD8 37
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SETD8 37
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia setd8 36
  • 61.38 (n)
  • 60.48 (a)
Str.2643 36
zebrafish
(Danio rerio)
Actinopterygii setd8a 37
  • 47 (a)
OneToMany
setd8b 36
  • 65.26 (n)
  • 67.72 (a)
setd8b 37
  • 45 (a)
OneToMany
wufj33f02 36
fruit fly
(Drosophila melanogaster)
Insecta pr-set7 37
  • 17 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea set-1 36
  • 51.2 (n)
  • 46.41 (a)
set-1 37
  • 38 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 31 (a)
OneToOne
Species with no ortholog for SETD8:
  • 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 SETD8 Gene

ENSEMBL:
Gene Tree for SETD8 (if available)
TreeFam:
Gene Tree for SETD8 (if available)

Paralogs for SETD8 Gene

Pseudogenes.org Pseudogenes for SETD8 Gene

genes like me logo Genes that share paralogs with SETD8: view

No data available for Paralogs for SETD8 Gene

Variants for SETD8 Gene

Sequence variations from dbSNP and Humsavar for SETD8 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs6576 -- 123,408,387(-) GCAAC(A/C)CTCTC utr-variant-3-prime
rs3209252 -- 123,408,280(+) CCTGG(C/G)CCCCA utr-variant-3-prime
rs3881293 -- 123,408,081(+) GGACC(A/C/T)TCCCC utr-variant-3-prime
rs3934031 -- 123,408,277(+) AGCCC(C/T)GGGCC utr-variant-3-prime
rs11311899 -- 123,382,965(+) GTGGG(-/T)TTTTT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for SETD8 Gene

Variant ID Type Subtype PubMed ID
nsv899579 CNV Loss 21882294
nsv826534 CNV Gain 20364138
dgv37e19 CNV Loss 19470904
esv2746505 CNV Deletion 23290073
esv2417445 CNV Deletion 18987734

Relevant External Links for SETD8 Gene

HapMap Linkage Disequilibrium report
SETD8
Human Gene Mutation Database (HGMD)
SETD8

Disorders for SETD8 Gene

Relevant External Links for SETD8

Genetic Association Database (GAD)
SETD8
Human Genome Epidemiology (HuGE) Navigator
SETD8
genes like me logo Genes that share disorders with SETD8: view

No data available for UniProtKB/Swiss-Prot for SETD8 Gene

Publications for SETD8 Gene

  1. 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
  2. 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
  3. Modulation of p53 function by SET8-mediated methylation at lysine 382. (PMID: 17707234) Shi X. … Gozani O. (Mol. Cell 2007) 3 4 23
  4. 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
  5. SET8 recognizes the sequence RHRK20VLRDN within the N terminus of histone H4 and mono-methylates lysine 20. (PMID: 15964846) Yin Y. … Zhu G. (J. Biol. Chem. 2005) 3 4

Products for SETD8 Gene

Sources for SETD8 Gene

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