Kmt5a lysine methyltransferase 5A [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Kmt5aprovided by MGI
Official Full Name: lysine methyltransferase 5Aprovided by MGI
Primary source: MGI:MGI:1915206
See related: Ensembl:ENSMUSG00000049327 AllianceGenome:MGI:1915206
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Setd8; PR-SET7; PR/SET07; 2410195B05Rik
Summary: Predicted to enable histone-lysine N-methyltransferase activity; p53 binding activity; and transcription corepressor activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II; peptidyl-lysine monomethylation; and regulation of DNA damage response, signal transduction by p53 class mediator. Predicted to act upstream of or within cell division; chromatin organization; and methylation. Predicted to be located in cytosol and nucleoplasm. Is expressed in embryo. Orthologous to human KMT5A (lysine methyltransferase 5A). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in placenta adult (RPKM 32.5), heart adult (RPKM 26.1) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 F; 5 63.59 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (124577980..124600371)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (124439930..124462311)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Trophoblast PR-SET7 dysfunction induces viral mimicry response and necroptosis associated with recurrent miscarriage.
Title: Trophoblast PR-SET7 dysfunction induces viral mimicry response and necroptosis associated with recurrent miscarriage.
SET8 participates in lipopolysaccharide-mediated BV2 cell inflammation via modulation of TICAM-2 expression.
Title: SET8 participates in lipopolysaccharide-mediated BV2 cell inflammation via modulation of TICAM-2 expression.
Meiotic gatekeeper STRA8 regulates cell cycle by interacting with SETD8 during spermatogenesis.
Title: Meiotic gatekeeper STRA8 regulates cell cycle by interacting with SETD8 during spermatogenesis.
The histone methyltransferase Setd8 alters the chromatin landscape and regulates the expression of key transcription factors during erythroid differentiation.
Title: The histone methyltransferase Setd8 alters the chromatin landscape and regulates the expression of key transcription factors during erythroid differentiation.
KMT5a was identified as a target gene that was down-regulated in both mRNA and protein level when miR-127-3p mimics were introduced. miR-127-3p regulates the proliferation of myocytes through KMT5a.
Title: mir-127-3p inhibits the proliferation of myocytes by targeting KMT5a.
Authors demonstrated that PR-Set7, an epigenetic regulator for H4K20me1 modification, was extensively expressed in the postnatal uteri, and its conditional deletion resulted in a complete lack of endometrial glands and infertility in mice.
Title: PR-Set7 deficiency limits uterine epithelial population growth hampering postnatal gland formation in mice.
PR-Set7 is a direct target of Cul4A for degradation and involved in the formation of lung tumors in the conditional Cul4A transgenic mouse model.
Title: PR-Set7 is Degraded in a Conditional Cul4A Transgenic Mouse Model of Lung Cancer.
These results suggest that Setd8 is an important regulator of erythroid maturation that works in part through repression of Gata2 expression.
Title: Histone methyltransferase Setd8 represses Gata2 expression and regulates erythroid maturation.
These results establish SetD8 as a determinant of erythroid cell maturation and provide a framework for understanding how a broadly expressed histone-modifying enzyme mediates cell-type-specific GATA factor function.
Title: Epigenetic Determinants of Erythropoiesis: Role of the Histone Methyltransferase SetD8 in Promoting Erythroid Cell Maturation and Survival.
all of the H3K36-specific methyltransferases, including ASH1L, HYPB, NSD1, and NSD2 were inhibited by ubH2A, whereas the other histone methyltransferases, including PRC2, G9a, and Pr-Set7 were not affected by ubH2A.
Title: Histone H2A ubiquitination inhibits the enzymatic activity of H3 lysine 36 methyltransferases.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Gene trapped (1) 1 citation
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH124262 (e-PCR)
- UniSTS:161084

AW536475 (e-PCR)
- UniSTS:179271

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables histone H4K20 methyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables histone H4K20 methyltransferase activity	ISO Inferred from Sequence Orthology more info
enables histone H4K20 monomethyltransferase activity	IEA Inferred from Electronic Annotation more info
enables histone methyltransferase activity	ISO Inferred from Sequence Orthology more info
enables methyltransferase activity	IEA Inferred from Electronic Annotation more info
enables protein-lysine N-methyltransferase activity	ISO Inferred from Sequence Orthology more info
enables transcription corepressor activity	ISO Inferred from Sequence Orthology more info
enables transcription regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell cycle	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell division	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within chromatin organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within methylation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of double-strand break repair via homologous recombination	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in peptidyl-lysine monomethylation	ISO Inferred from Sequence Orthology more info
involved_in regulation of DNA damage response, signal transduction by p53 class mediator	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of DNA damage response, signal transduction by p53 class mediator	ISO Inferred from Sequence Orthology more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of chromatin	ISO Inferred from Sequence Orthology more info
located_in chromosome	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in polytene chromosome	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: N-lysine methyltransferase KMT5A

Names: H4-K20-HMTase KMT5A; H4-K20-HMTase SETD8; N-lysine methyltransferase SETD8; PR/SET domain-containing protein 07; SET domain containing (lysine methyltransferase) 8; SET domain-containing protein 8; histone-lysine N-methyltransferase KMT5A; histone-lysine N-methyltransferase SETD8; lysine-specific methylase 5A

NP_001297652.1

EC 2.1.1.361

NP_001297654.1

EC 2.1.1.361

NP_001297656.1

EC 2.1.1.361

NP_001392317.1

EC 2.1.1.361

NP_001392319.1

EC 2.1.1.361

NP_084517.2

EC 2.1.1.361

XP_036021341.1

EC 2.1.1.361

NCBI Reference Sequences (RefSeq)

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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_001310723.2 → NP_001297652.1 N-lysine methyltransferase KMT5A isoform 2

Status: VALIDATED

Source sequence(s)

AC127339

Consensus CDS

CCDS80410.1

UniProtKB/Swiss-Prot

Q2YDW7, Q8C0J9

UniProtKB/TrEMBL

D3YXI6

Related

ENSMUSP00000098275.3, ENSMUST00000100709.7

Conserved Domains (1) summary

smart00317
Location:236 → 353

SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
NM_001310725.2 → NP_001297654.1 N-lysine methyltransferase KMT5A isoform 3

See identical proteins and their annotated locations for NP_001297654.1

Status: VALIDATED

Source sequence(s)

AC127339

Consensus CDS

CCDS80411.1

UniProtKB/Swiss-Prot

Q2YDW7, Q8C0J9

UniProtKB/TrEMBL

A0A0G2JFK5

Related

ENSMUSP00000143207.2, ENSMUST00000198451.2

Conserved Domains (2) summary

PLN02543
Location:70 → 164

PLN02543; pfkB-type carbohydrate kinase family protein

cd10528
Location:143 → 282

SET_SETD8; SET domain found in SET domain-containing protein 8 (SETD8) and similar proteins
NM_001310727.2 → NP_001297656.1 N-lysine methyltransferase KMT5A isoform 3

See identical proteins and their annotated locations for NP_001297656.1

Status: VALIDATED

Source sequence(s)

AC127339

Consensus CDS

CCDS80411.1

UniProtKB/Swiss-Prot

Q2YDW7, Q8C0J9

UniProtKB/TrEMBL

A0A0G2JFK5

Conserved Domains (2) summary

PLN02543
Location:70 → 164

PLN02543; pfkB-type carbohydrate kinase family protein

cd10528
Location:143 → 282

SET_SETD8; SET domain found in SET domain-containing protein 8 (SETD8) and similar proteins
NM_001405388.1 → NP_001392317.1 N-lysine methyltransferase KMT5A isoform 3

Status: VALIDATED

Source sequence(s)

AC127339

UniProtKB/TrEMBL

A0A0G2JFK5
NM_001405390.1 → NP_001392319.1 N-lysine methyltransferase KMT5A isoform 4

Status: VALIDATED

Source sequence(s)

AC127339
NM_030241.4 → NP_084517.2 N-lysine methyltransferase KMT5A isoform 1.

Status: VALIDATED

Source sequence(s)

AC127339

Consensus CDS

CCDS19675.1

UniProtKB/Swiss-Prot

Q2YDW7, Q8C0J9

UniProtKB/TrEMBL

E9QNB8

Related

ENSMUSP00000052953.5, ENSMUST00000059580.11

Conserved Domains (1) summary

smart00317
Location:222 → 339

SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain