Kmt5b lysine methyltransferase 5B [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Kmt5bprovided by MGI
Official Full Name: lysine methyltransferase 5Bprovided by MGI
Primary source: MGI:MGI:2444557
See related: Ensembl:ENSMUSG00000045098 AllianceGenome:MGI:2444557
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: Suv420h1; Suv4-20h1; C630029K18Rik
Summary: Enables S-adenosyl-L-methionine binding activity and histone methyltransferase activity (H4-K20 specific). Involved in positive regulation of isotype switching. Acts upstream of or within histone methylation. Located in condensed chromosome, centromeric region. Is expressed in several structures, including genitourinary system; heart; hemolymphoid system gland; liver; and lung. Human ortholog(s) of this gene implicated in autosomal dominant mental retardation 51. Orthologous to human KMT5B (lysine methyltransferase 5B). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in whole brain E14.5 (RPKM 7.3), CNS E14 (RPKM 7.0) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19 A; 19 3.5 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (3816436..3868303)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (3767362..3818303)

Chromosome 19 - NC_000085.7 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?

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Title: Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
The histone H4K20 methyltransferase SUV4-20H1/KMT5B is required for multiciliated cell differentiation in Xenopus.
Title: The histone H4K20 methyltransferase SUV4-20H1/KMT5B is required for multiciliated cell differentiation in Xenopus.
Loss-of-function of KMT5B leads to neurodevelopmental disorder and impairs neuronal development and neurogenesis.
Title: Loss-of-function of KMT5B leads to neurodevelopmental disorder and impairs neuronal development and neurogenesis.
miR-140-3p enhanced the osteo/odontogenic differentiation of DPSCs via inhibiting KMT5B under hypoxia condition.
Title: miR-140-3p enhanced the osteo/odontogenic differentiation of DPSCs via inhibiting KMT5B under hypoxia condition.
Autism risk gene KMT5B deficiency in prefrontal cortex induces synaptic dysfunction and social deficits via alterations of DNA repair and gene transcription.
Title: Autism risk gene KMT5B deficiency in prefrontal cortex induces synaptic dysfunction and social deficits via alterations of DNA repair and gene transcription.
Suv4-20h1/h2 are mostly absent in mouse embryos before implantation, underscoring a rapid decrease of H4K20me3 from the two-cell stage onward
Title: SUV4-20 activity in the preimplantation mouse embryo controls timely replication.
Suv4-20h1, an H4K20 dimethyltransferase, controls Skeletal muscle stem cell quiescence by promoting formation of facultative heterochromatin.
Title: Regulation of Skeletal Muscle Stem Cell Quiescence by Suv4-20h1-Dependent Facultative Heterochromatin Formation.
This study suggests a novel role of FRG1 as epigenetic regulator of muscle differentiation and indicates that Suv4-20h1 has a gene-specific function in myogenesis.
Title: FSHD muscular dystrophy region gene 1 binds Suv4-20h1 histone methyltransferase and impairs myogenesis.
Data suggest that Suv4-20h1/Suv4-20h2 activity is required for fidelity of chromosome distribution during meiosis in oocyte; Suv4-20h1/Suv4-20h2 appear to control histone 4 methylation, centromere structure, and oocyte maturation/oogenesis.
Title: Mouse oocyte meiosis is disturbed by knockdown of Suv4-20h.
murine Suv4-20h1/h2 double-knockout embryonic stem (DKO ES) cells exhibit increased Oct4 protein levels before and during EB formation, and reveal a compromised and biased capacity for in vitro differentiation, when compared to normal ES cells
Title: Suv4-20h histone methyltransferases promote neuroectodermal differentiation by silencing the pluripotency-associated Oct-25 gene.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Variation

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Alleles

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

Targeted (4) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables S-adenosyl-L-methionine binding	IDA Inferred from Direct Assay more info	PubMed
enables chromatin binding	ISO Inferred from Sequence Orthology more info
enables histone H4K20 methyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables histone H4K20 methyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
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 H4K20me methyltransferase activity	IEA Inferred from Electronic Annotation more info
enables histone methyltransferase activity	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables methyltransferase activity	IEA Inferred from Electronic Annotation more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in DNA repair	ISO Inferred from Sequence Orthology 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
acts_upstream_of_or_within muscle organ development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of double-strand break repair via nonhomologous end joining	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of isotype switching	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in chromosome	IEA Inferred from Electronic Annotation more info
located_in condensed chromosome, centromeric region	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: histone-lysine N-methyltransferase KMT5B

Names: [histone H4]-N-methyl-L-lysine20 N-methyltransferase KMT5B; [histone H4]-lysine20 N-methyltransferase KMT5B; histone-lysine N-methyltransferase SUV420H1; lysine-specific methyltransferase 5B; su(var)4-20 homolog 1; suppressor of variegation 4-20 homolog 1

NP_001161356.1

EC 2.1.1.361

EC 2.1.1.362

NP_001161357.1

EC 2.1.1.361

EC 2.1.1.362

NP_001161358.1

EC 2.1.1.361

EC 2.1.1.362

NP_001161359.1

EC 2.1.1.361

EC 2.1.1.362

NP_001161360.1

EC 2.1.1.361

EC 2.1.1.362

NP_001161361.1

EC 2.1.1.361

EC 2.1.1.362

NP_001366607.1

EC 2.1.1.361

EC 2.1.1.362

NP_001366608.1

EC 2.1.1.361

EC 2.1.1.362

NP_001366609.1

EC 2.1.1.361

EC 2.1.1.362

NP_659120.3

EC 2.1.1.361

EC 2.1.1.362

XP_006531790.1

EC 2.1.1.361

EC 2.1.1.362

XP_006531791.1

EC 2.1.1.361

EC 2.1.1.362

XP_011246926.1

EC 2.1.1.361

EC 2.1.1.362

XP_017173633.1

EC 2.1.1.361

EC 2.1.1.362

XP_030106737.1

EC 2.1.1.361

EC 2.1.1.362

XP_036017420.1

EC 2.1.1.361

EC 2.1.1.362

XP_036017421.1

EC 2.1.1.361

EC 2.1.1.362

XP_036017422.1

EC 2.1.1.361

EC 2.1.1.362

XP_036017423.1

EC 2.1.1.361

EC 2.1.1.362

XP_036017424.1

EC 2.1.1.361

EC 2.1.1.362

XP_036017425.1

EC 2.1.1.361

EC 2.1.1.362

XP_036017426.1

EC 2.1.1.361

EC 2.1.1.362

XP_036017427.1

EC 2.1.1.361

EC 2.1.1.362

XP_036017428.1

EC 2.1.1.361

EC 2.1.1.362

XP_036017429.1

EC 2.1.1.361

EC 2.1.1.362

XP_036017430.1

EC 2.1.1.361

EC 2.1.1.362

XP_036017431.1

EC 2.1.1.361

EC 2.1.1.362

XP_036017432.1

EC 2.1.1.361

EC 2.1.1.362

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_001167884.1 → NP_001161356.1 histone-lysine N-methyltransferase KMT5B isoform d

See identical proteins and their annotated locations for NP_001161356.1

Status: VALIDATED

Source sequence(s)

AC132452, AK083227, AK087267

Consensus CDS

CCDS50345.1

UniProtKB/Swiss-Prot

Q3U8K7

Related

ENSMUSP00000109601.3, ENSMUST00000113968.9

Conserved Domains (1) summary

smart00317
Location:204 → 315

SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
NM_001167885.1 → NP_001161357.1 histone-lysine N-methyltransferase KMT5B isoform a

See identical proteins and their annotated locations for NP_001161357.1

Status: VALIDATED

Source sequence(s)

AC132452, AK083227, AK152179, AY555192

Consensus CDS

CCDS50343.1

UniProtKB/Swiss-Prot

Q3U8K7, Q3UTP6, Q6DI74, Q6Q784, Q8BU67, Q8BUN0, Q8BUT7, Q8BW73, Q8BZ24, Q91X81

Related

ENSMUSP00000109606.2, ENSMUST00000113973.8

Conserved Domains (1) summary

cd19184
Location:193 → 336

SET_KMT5B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 5B (KMT5B) and similar proteins
NM_001167886.1 → NP_001161358.1 histone-lysine N-methyltransferase KMT5B isoform b

See identical proteins and their annotated locations for NP_001161358.1

Status: VALIDATED

Source sequence(s)

AC132452, AK083227, AY555192

Consensus CDS

CCDS29399.1

UniProtKB/Swiss-Prot

Q3U8K7

Related

ENSMUSP00000109610.3, ENSMUST00000113977.9

Conserved Domains (1) summary

cd19184
Location:170 → 313

SET_KMT5B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 5B (KMT5B) and similar proteins
NM_001167887.1 → NP_001161359.1 histone-lysine N-methyltransferase KMT5B isoform a

See identical proteins and their annotated locations for NP_001161359.1

Status: VALIDATED

Source sequence(s)

AC132452, AK083227, AY555192

Consensus CDS

CCDS50343.1

UniProtKB/Swiss-Prot

Q3U8K7, Q3UTP6, Q6DI74, Q6Q784, Q8BU67, Q8BUN0, Q8BUT7, Q8BW73, Q8BZ24, Q91X81

Related

ENSMUSP00000109605.3, ENSMUST00000113972.9

Conserved Domains (1) summary

cd19184
Location:193 → 336

SET_KMT5B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 5B (KMT5B) and similar proteins
NM_001167888.1 → NP_001161360.1 histone-lysine N-methyltransferase KMT5B isoform d

See identical proteins and their annotated locations for NP_001161360.1

Status: VALIDATED

Source sequence(s)

AC132452, AK083227, AK087267, AK152179

Consensus CDS

CCDS50345.1

UniProtKB/Swiss-Prot

Q3U8K7

Related

ENSMUSP00000158061.2, ENSMUST00000237440.2

Conserved Domains (1) summary

smart00317
Location:204 → 315

SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
NM_001167889.2 → NP_001161361.1 histone-lysine N-methyltransferase KMT5B isoform c

See identical proteins and their annotated locations for NP_001161361.1

Status: VALIDATED

Source sequence(s)

AC132452, AK082660, AK083227

Consensus CDS

CCDS50344.1

UniProtKB/TrEMBL

H3BLE5

Related

ENSMUSP00000060162.7, ENSMUST00000052699.13

Conserved Domains (1) summary

smart00317
Location:204 → 315

SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
NM_001379678.1 → NP_001366607.1 histone-lysine N-methyltransferase KMT5B isoform a

Status: VALIDATED

Source sequence(s)

AC132452

UniProtKB/Swiss-Prot

Q3U8K7, Q3UTP6, Q6DI74, Q6Q784, Q8BU67, Q8BUN0, Q8BUT7, Q8BW73, Q8BZ24, Q91X81

Conserved Domains (1) summary

cd19184
Location:193 → 336

SET_KMT5B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 5B (KMT5B) and similar proteins
NM_001379679.1 → NP_001366608.1 histone-lysine N-methyltransferase KMT5B isoform b

Status: VALIDATED

Source sequence(s)

AC132452

Related

ENSMUSP00000135563.2, ENSMUST00000176262.8

Conserved Domains (1) summary

cd19184
Location:170 → 313

SET_KMT5B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 5B (KMT5B) and similar proteins
NM_001379680.1 → NP_001366609.1 histone-lysine N-methyltransferase KMT5B isoform e

Status: VALIDATED

Source sequence(s)

AC132452

Conserved Domains (1) summary

cl40432
Location:193 → 276

SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
NM_144871.4 → NP_659120.3 histone-lysine N-methyltransferase KMT5B isoform b

See identical proteins and their annotated locations for NP_659120.3

Status: VALIDATED

Source sequence(s)

AC132452, AK083227, AY555192

Consensus CDS

CCDS29399.1

UniProtKB/Swiss-Prot

Q3U8K7

Related

ENSMUSP00000109607.5, ENSMUST00000113974.11

Conserved Domains (1) summary

cd19184
Location:170 → 313

SET_KMT5B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 5B (KMT5B) and similar proteins

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000085.7 Reference GRCm39 C57BL/6J

Range

3816436..3868303

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006531727.5 → XP_006531790.1 histone-lysine N-methyltransferase KMT5B isoform X1

See identical proteins and their annotated locations for XP_006531790.1

UniProtKB/Swiss-Prot

Q3U8K7, Q3UTP6, Q6DI74, Q6Q784, Q8BU67, Q8BUN0, Q8BUT7, Q8BW73, Q8BZ24, Q91X81

Conserved Domains (1) summary

cd19184
Location:193 → 336

SET_KMT5B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 5B (KMT5B) and similar proteins
XM_036161533.1 → XP_036017426.1 histone-lysine N-methyltransferase KMT5B isoform X7
XM_017318144.3 → XP_017173633.1 histone-lysine N-methyltransferase KMT5B isoform X3

Conserved Domains (1) summary

cd19184
Location:151 → 294

SET_KMT5B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 5B (KMT5B) and similar proteins
XM_036161527.1 → XP_036017420.1 histone-lysine N-methyltransferase KMT5B isoform X1

UniProtKB/Swiss-Prot

Q3U8K7, Q3UTP6, Q6DI74, Q6Q784, Q8BU67, Q8BUN0, Q8BUT7, Q8BW73, Q8BZ24, Q91X81

Conserved Domains (1) summary

cd19184
Location:193 → 336

SET_KMT5B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 5B (KMT5B) and similar proteins
XM_036161528.1 → XP_036017421.1 histone-lysine N-methyltransferase KMT5B isoform X1

UniProtKB/Swiss-Prot

Q3U8K7, Q3UTP6, Q6DI74, Q6Q784, Q8BU67, Q8BUN0, Q8BUT7, Q8BW73, Q8BZ24, Q91X81

Conserved Domains (1) summary

cd19184
Location:193 → 336

SET_KMT5B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 5B (KMT5B) and similar proteins
XM_036161534.1 → XP_036017427.1 histone-lysine N-methyltransferase KMT5B isoform X7
XM_036161539.1 → XP_036017432.1 histone-lysine N-methyltransferase KMT5B isoform X10

Conserved Domains (1) summary

cl40432
Location:193 → 275

SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
XM_036161538.1 → XP_036017431.1 histone-lysine N-methyltransferase KMT5B isoform X9

Conserved Domains (1) summary

cl40432
Location:193 → 326

SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
XM_036161531.1 → XP_036017424.1 histone-lysine N-methyltransferase KMT5B isoform X6

Conserved Domains (1) summary

cd19184
Location:170 → 313

SET_KMT5B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 5B (KMT5B) and similar proteins
XM_036161530.1 → XP_036017423.1 histone-lysine N-methyltransferase KMT5B isoform X5

Conserved Domains (1) summary

cd19184
Location:128 → 271

SET_KMT5B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 5B (KMT5B) and similar proteins
XM_011248624.3 → XP_011246926.1 histone-lysine N-methyltransferase KMT5B isoform X2

See identical proteins and their annotated locations for XP_011246926.1

UniProtKB/Swiss-Prot

Q3U8K7

Conserved Domains (1) summary

cd19184
Location:170 → 313

SET_KMT5B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 5B (KMT5B) and similar proteins
XM_036161529.1 → XP_036017422.1 histone-lysine N-methyltransferase KMT5B isoform X4

Conserved Domains (1) summary

cd19184
Location:193 → 336

SET_KMT5B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 5B (KMT5B) and similar proteins
XM_036161535.1 → XP_036017428.1 histone-lysine N-methyltransferase KMT5B isoform X7
XM_036161532.1 → XP_036017425.1 histone-lysine N-methyltransferase KMT5B isoform X7
XM_036161537.1 → XP_036017430.1 histone-lysine N-methyltransferase KMT5B isoform X7
XM_030250877.2 → XP_030106737.1 histone-lysine N-methyltransferase KMT5B isoform X8
XM_006531728.5 → XP_006531791.1 histone-lysine N-methyltransferase KMT5B isoform X1

See identical proteins and their annotated locations for XP_006531791.1

UniProtKB/Swiss-Prot

Q3U8K7, Q3UTP6, Q6DI74, Q6Q784, Q8BU67, Q8BUN0, Q8BUT7, Q8BW73, Q8BZ24, Q91X81

Conserved Domains (1) summary

cd19184
Location:193 → 336

SET_KMT5B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 5B (KMT5B) and similar proteins
XM_036161536.1 → XP_036017429.1 histone-lysine N-methyltransferase KMT5B isoform X7