SETD8 SET domain containing (lysine methyltransferase) 8 [Homo sapiens] - Gene

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Summary

Official Symbol: SETD8provided by HGNC
Official Full Name: SET domain containing (lysine methyltransferase) 8provided by HGNC
Primary source: HGNC:29489
See related: Ensembl:ENSG00000183955; HPRD:06254; MIM:607240; Vega:OTTHUMG00000150477
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SET8; KMT5A; SET07; PR-Set7

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Genomic context

Location :: 12q24.31

Sequence :: Chromosome: 12; NC_000012.11 (123868704..123893900)

See SETD8 in Epigenomics, MapViewer

Chromosome 12 - NC_000012.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

in breast carcinoma samples, SET8 expression is positively correlated with metastasis
Title: SET8 promotes epithelial-mesenchymal transition and confers TWIST dual transcriptional activities.
[review] PR-Set7/Set8/KMT5a is the sole histone methyltransferase responsible for the monomethylation of histone H4 lysine 20 (H4K20me1) in higher eukaryotes.
Title: A new regulator of the cell cycle: the PR-Set7 histone methyltransferase.
SET8 is a Wnt signaling mediator and is recruited by LEF1/TCF4 to regulate the transcription of Wnt-activated genes, possibly through H4K20 monomethylation at the target gene promoters.
Title: Histone H4 Lys 20 monomethylation by histone methylase SET8 mediates Wnt target gene activation.
The turnover of SET8 is accelerated after ultraviolet irradiation dependent on the CRL4(CDT2) ubiquitin ligase and PCNA.
Title: SET8 is degraded via PCNA-coupled CRL4(CDT2) ubiquitylation in S phase and after UV irradiation.
PR-Set7 is transiently recruited to laser-induced DNA damage sites through its interaction with PCNA, after which 53BP1 is recruited dependent on PR-Set7 catalytic activity.
Title: Regulation of the histone H4 monomethylase PR-Set7 by CRL4(Cdt2)-mediated PCNA-dependent degradation during DNA damage.
The results elucidate a critical role for PR-Set7 and H4K20me1 in the chromatin events that regulate replication origins.
Title: The histone H4 Lys 20 methyltransferase PR-Set7 regulates replication origins in mammalian cells.
SET8-mediated methylation of p53 at Lys-382 promotes the interaction between L3MBTL1 and p53 in cells.
Title: The MBT repeats of L3MBTL1 link SET8-mediated p53 methylation at lysine 382 to target gene repression.
CRL4(Cdt2)-dependent destruction of Set8 in S phase preserves genome stability by preventing aberrant chromatin compaction during DNA synthesis.
Title: CRL4(Cdt2)-mediated destruction of the histone methyltransferase Set8 prevents premature chromatin compaction in S phase.
Results demonstrate a central role of CRL4(Cdt2)-dependent cell-cycle regulation of Set8 for the maintenance of a stable epigenetic state essential for cell viability.
Title: CRL4(Cdt2) regulates cell proliferation and histone gene expression by targeting PR-Set7/Set8 for degradation.
This study identifies CRL4-Cdt2 ubiquitin ligase to promote the ubiquitin-dependent proteolysis of the histone H4 methyltransferase Set8 during S-phase of the cell cycle and after UV-irradiation in a reaction that is dependent on PCNA.
Title: CRL4(Cdt2) regulates cell proliferation and histone gene expression by targeting PR-Set7/Set8 for degradation.

Submit: New GeneRIF Correction See all (20)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
AAF97812.2	NP_004082.1	E2F2	BIND	PubMed	E2F2 interacts with SET 07.
Q9NQR1	Q14209	E2F2	HPRD	PubMed
Q9NQR1	Q9NQR1	SETD8	HPRD	PubMed
BioGRID:132490	BioGRID:125736	AEBP2	BioGRID	PubMed	Co-purification
BioGRID:132490	BioGRID:108009	DDB1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:132490	BioGRID:119582	DTL	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity; Reconstituted Complex
BioGRID:132490	BioGRID:108202	E2F2	BioGRID	PubMed	Two-hybrid
BioGRID:132490	BioGRID:114265	EED	BioGRID	PubMed	Co-purification
BioGRID:132490	BioGRID:108446	EZH2	BioGRID	PubMed	Co-purification
BioGRID:132490	BioGRID:119489	FZR1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:132490	BioGRID:113955	HIST1H4A	BioGRID	PubMed	Biochemical Activity; Co-crystal Structure; Protein-peptide
BioGRID:132490	BioGRID:120708	IL17RB	BioGRID	PubMed	Biochemical Activity
BioGRID:132490	BioGRID:117486	L3MBTL1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:132490	BioGRID:119354	LEF1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:132490	BioGRID:111142	PCNA	BioGRID	PubMed	Affinity Capture-Western; Co-localization; Reconstituted Complex
BioGRID:132490	BioGRID:111863	RBBP4	BioGRID	PubMed	Co-purification
BioGRID:132490	BioGRID:113188	SUMO1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:132490	BioGRID:117059	SUZ12	BioGRID	PubMed	Co-purification
BioGRID:132490	BioGRID:112787	TCF4	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:132490	BioGRID:113010	TP53	BioGRID	PubMed	Biochemical Activity
BioGRID:132490	BioGRID:113011	TP53BP1	BioGRID	PubMed	Co-localization
BioGRID:132490	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:132490	BioGRID:113177	UBE2I	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity; Reconstituted Complex; Two-hybrid

Function	Evidence Code	Pubs
histone-lysine N-methyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
methyltransferase activity	IEA Inferred from Electronic Annotation more info
p53 binding	IPI Inferred from Physical Interaction more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein-lysine N-methyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
transcription corepressor activity	IDA Inferred from Direct Assay more info	PubMed
transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
cell cycle	IEA Inferred from Electronic Annotation more info
cell division	IEA Inferred from Electronic Annotation more info
chromatin modification	IEA Inferred from Electronic Annotation more info
histone lysine methylation	IDA Inferred from Direct Assay more info	PubMed
mitosis	IEA Inferred from Electronic Annotation more info
negative regulation of transcription from RNA polymerase II promoter	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of transcription, DNA-dependent	IDA Inferred from Direct Assay more info	PubMed
peptidyl-lysine monomethylation	IDA Inferred from Direct Assay more info	PubMed
regulation of DNA damage response, signal transduction by p53 class mediator	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
chromosome	IEA Inferred from Electronic Annotation more info
nucleus	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: N-lysine methyltransferase SETD8

Names: N-lysine methyltransferase SETD8; PR/SET07; H4-K20-HMTase SETD8; lysine N-methyltransferase 5A; SET domain-containing protein 8; PR/SET domain containing protein 8; PR/SET domain-containing protein 07; histone-lysine N-methyltransferase SETD8; H4-K20-specific histone methyltransferase; H4K20-specific histone methyltransferase splice variant Set8b

NP_065115.3

EC 2.1.1.43

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_020382.3 → NP_065115.3 N-lysine methyltransferase SETD8

Status: VALIDATED

Source sequence(s)

AY102937, BC050346, BQ773996

Consensus CDS

CCDS9247.1

UniProtKB/Swiss-Prot

Q9NQR1

Related

ENSP00000384629, OTTHUMP00000197452, ENST00000402868, OTTHUMT00000318263

Conserved Domains (1) summary

cl02566
Location:227 – 337
Blast Score: 275

SET; SET domain

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000012.11 Reference GRCh37.p5 Primary Assembly

Range

123868704..123893900

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000144.1 Alternate HuRef

Range

120829632..120854730

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC137767.16	None
genomic	AC145423.8 (47390..49448)	None
genomic	CH471054.1	EAW98406.1
		EAW98407.1
		EAW98408.1
		EAW98409.1
mRNA	AF287261.2	AAF97812.2
mRNA	AK292645.1	BAF85334.1
mRNA	AY064546.1	AAL40879.1
mRNA	AY102937.1	AAM47033.1
mRNA	BC050346.1	AAH50346.1
mRNA	BQ773996.1	None
mRNA	HQ259683.1	ADP08984.1
other-genetic	HQ448034.1	ADQ32515.1