Kmt2a lysine methyltransferase 2A [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Kmt2aprovided by RGD
Official Full Name: lysine methyltransferase 2Aprovided by RGD
Primary source: RGD:1586165
See related: EnsemblRapid:ENSRNOG00000015133 AllianceGenome:RGD:1586165
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Mll; Mll1
Summary: Enables DNA-binding transcription factor binding activity. Involved in several processes, including cellular response to transforming growth factor beta stimulus; membrane depolarization; and response to potassium ion. Predicted to be located in cytosol and nucleoplasm. Predicted to be part of MLL1 complex. Used to study transient cerebral ischemia. Human ortholog(s) of this gene implicated in acute myeloid leukemia; cervical cancer; myelofibrosis; and non-Hodgkin lymphoma. Orthologous to human KMT2A (lysine methyltransferase 2A). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in Thymus (RPKM 139.5), Spleen (RPKM 125.5) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 8q22

Exon count:: 37

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	8	NC_086026.1 (54013547..54089219, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	8	NC_051343.1 (45116763..45193320, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	8	NC_005107.4 (49110407..49185872, complement)

Chromosome 8 - NC_086026.1 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: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Preceding puberty, MLL1 changes the chromatin configuration at the promoters of Kiss1 and Tac3, two genes required for puberty to occur, from repressive to permissive. Mll1 knockdown reduced Kiss1 and Tac3 expression, which delayed puberty and disrupted reproductive cyclicity.
Title: Trithorax dependent changes in chromatin landscape at enhancer and promoter regions drive female puberty.

Submit: New GeneRIF Correction

General gene information

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Markers

Mll1 (e-PCR), detects polymorphism
- UniSTS:143875

BF397432 (e-PCR)
- UniSTS:246165

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables DNA binding	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info
enables chromatin binding	ISO Inferred from Sequence Orthology more info
enables histone H3K4 methyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables histone H3K4 methyltransferase activity	ISO Inferred from Sequence Orthology more info
enables histone H3K4 monomethyltransferase activity	IEA Inferred from Electronic Annotation more info
enables histone H3K4 trimethyltransferase activity	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables lysine-acetylated histone binding	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein-cysteine methyltransferase activity	ISO Inferred from Sequence Orthology more info
enables unmethylated CpG binding	ISO Inferred from Sequence Orthology more info
enables zinc ion binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in T-helper 2 cell differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within anterior/posterior pattern specification	ISO Inferred from Sequence Orthology more info
involved_in cellular response to transforming growth factor beta stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in circadian regulation of gene expression	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cognition	ISO Inferred from Sequence Orthology more info
involved_in definitive hemopoiesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within embryonic hemopoiesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within epigenetic regulation of gene expression	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within exploration behavior	ISO Inferred from Sequence Orthology more info
acts_upstream_of fibroblast proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within homeostasis of number of cells within a tissue	ISO Inferred from Sequence Orthology more info
involved_in membrane depolarization	IEP Inferred from Expression Pattern more info	PubMed
involved_in methylation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA methylation-dependent heterochromatin formation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of fibroblast proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within peptidyl-lysine monomethylation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within post-embryonic development	ISO Inferred from Sequence Orthology more info
involved_in protein modification process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein-containing complex assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of gene expression	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of short-term neuronal synaptic plasticity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to light stimulus	ISO Inferred from Sequence Orthology more info
involved_in response to potassium ion	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within spleen development	ISO Inferred from Sequence Orthology more info
involved_in transcription initiation-coupled chromatin remodeling	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within visual learning	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of MLL1 complex	ISO Inferred from Sequence Orthology more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
part_of histone methyltransferase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of histone methyltransferase complex	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: histone-lysine N-methyltransferase 2A

Names: Mixed-lineage leukemia (also acute lymphocytic leukemia 1 or trithorax Drosophila gene); Mixed-lineage leukemia (also acute lymphocytic leukemia 1 or tritorax Drosophila gene); histone-lysine N-methyltransferase MLL; lysine (K)-specific methyltransferase 2A; myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); myeloid/lymphoid or mixed-lineage leukemia 1

NP_001101609.2

EC 2.1.1.354

NP_001406869.1

EC 2.1.1.354

XP_038938273.1

EC 2.1.1.354

XP_038938274.1

EC 2.1.1.354

XP_038938275.1

EC 2.1.1.354

XP_038938276.1

EC 2.1.1.354

XP_063121504.1

EC 2.1.1.354

XP_063121505.1

EC 2.1.1.354

XP_063121506.1

EC 2.1.1.354

XP_063121507.1

EC 2.1.1.354

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_001108139.2 → NP_001101609.2 histone-lysine N-methyltransferase 2A isoform 1

Status: VALIDATED

Source sequence(s)

JAXUCZ010000008
NM_001419940.1 → NP_001406869.1 histone-lysine N-methyltransferase 2A isoform 2

Status: VALIDATED

Source sequence(s)

JAXUCZ010000008

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086026.1 Reference GRCr8

Range

54013547..54089219 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_039082348.2 → XP_038938276.1 histone-lysine N-methyltransferase 2A isoform X6

UniProtKB/TrEMBL

A6J416

Conserved Domains (9) summary

cd05493
Location:938 → 1068

Bromo_ALL-1; Bromodomain, ALL-1 like proteins. ALL-1 is a vertebrate homologue of Drosophila trithorax and is often affected in chromosomal rearrangements that are linked to acute leukemias, such as acute lymphocytic leukemia (ALL). Bromodomains are found in many ...

smart00542
Location:2956 → 3039

FYRC; FY-rich domain, C-terminal region

cd15588
Location:721 → 767

PHD1_KMT2A; PHD finger 1 found in histone-lysine N-methyltransferase 2A (KMT2A)

cd15590
Location:769 → 818

PHD2_KMT2A; PHD finger 2 found in histone-lysine N-methyltransferase 2A (KMT2A)

cd15592
Location:856 → 915

PHD3_KMT2A; PHD finger 3 found in histone-lysine N-methyltransferase 2A (KMT2A)

cd15693
Location:1162 → 1274

ePHD_KMT2A; Extended PHD finger found in histone-lysine N-methyltransferase 2A (KMT2A)

pfam02008
Location:415 → 462

zf-CXXC; CXXC zinc finger domain

cd19170
Location:3103 → 3256

SET_KMT2A_2B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 2A (KMT2A), 2B (KMT2B) and similar proteins

pfam05964
Location:1315 → 1362

FYRN; F/Y-rich N-terminus
XM_039082347.2 → XP_038938275.1 histone-lysine N-methyltransferase 2A isoform X3

UniProtKB/TrEMBL

A6J416

Conserved Domains (9) summary

cd05493
Location:1667 → 1797

Bromo_ALL-1; Bromodomain, ALL-1 like proteins. ALL-1 is a vertebrate homologue of Drosophila trithorax and is often affected in chromosomal rearrangements that are linked to acute leukemias, such as acute lymphocytic leukemia (ALL). Bromodomains are found in many ...

smart00542
Location:3685 → 3768

FYRC; FY-rich domain, C-terminal region

cd15588
Location:1451 → 1497

PHD1_KMT2A; PHD finger 1 found in histone-lysine N-methyltransferase 2A (KMT2A)

cd15590
Location:1499 → 1547

PHD2_KMT2A; PHD finger 2 found in histone-lysine N-methyltransferase 2A (KMT2A)

cd15592
Location:1585 → 1644

PHD3_KMT2A; PHD finger 3 found in histone-lysine N-methyltransferase 2A (KMT2A)

cd15693
Location:1891 → 2003

ePHD_KMT2A; Extended PHD finger found in histone-lysine N-methyltransferase 2A (KMT2A)

pfam02008
Location:1145 → 1192

zf-CXXC; CXXC zinc finger domain

cd19170
Location:3832 → 3985

SET_KMT2A_2B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 2A (KMT2A), 2B (KMT2B) and similar proteins

pfam05964
Location:2044 → 2091

FYRN; F/Y-rich N-terminus
XM_063265435.1 → XP_063121505.1 histone-lysine N-methyltransferase 2A isoform X5
XM_063265434.1 → XP_063121504.1 histone-lysine N-methyltransferase 2A isoform X4

Related

ENSRNOP00000103868.1, ENSRNOT00000140833.1
XM_039082346.2 → XP_038938274.1 histone-lysine N-methyltransferase 2A isoform X2

UniProtKB/TrEMBL

A6J416

Conserved Domains (9) summary

cd05493
Location:1668 → 1798

Bromo_ALL-1; Bromodomain, ALL-1 like proteins. ALL-1 is a vertebrate homologue of Drosophila trithorax and is often affected in chromosomal rearrangements that are linked to acute leukemias, such as acute lymphocytic leukemia (ALL). Bromodomains are found in many ...

smart00542
Location:3685 → 3768

FYRC; FY-rich domain, C-terminal region

cd15588
Location:1451 → 1497

PHD1_KMT2A; PHD finger 1 found in histone-lysine N-methyltransferase 2A (KMT2A)

cd15590
Location:1499 → 1548

PHD2_KMT2A; PHD finger 2 found in histone-lysine N-methyltransferase 2A (KMT2A)

cd15592
Location:1586 → 1645

PHD3_KMT2A; PHD finger 3 found in histone-lysine N-methyltransferase 2A (KMT2A)

cd15693
Location:1892 → 2004

ePHD_KMT2A; Extended PHD finger found in histone-lysine N-methyltransferase 2A (KMT2A)

pfam02008
Location:1145 → 1192

zf-CXXC; CXXC zinc finger domain

cd19170
Location:3832 → 3985

SET_KMT2A_2B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 2A (KMT2A), 2B (KMT2B) and similar proteins

pfam05964
Location:2045 → 2092

FYRN; F/Y-rich N-terminus
XM_039082345.2 → XP_038938273.1 histone-lysine N-methyltransferase 2A isoform X1

UniProtKB/TrEMBL

A6J416, F1M0L3

Related

ENSRNOP00000020573.7, ENSRNOT00000020573.8

Conserved Domains (9) summary

cd05493
Location:1668 → 1798

Bromo_ALL-1; Bromodomain, ALL-1 like proteins. ALL-1 is a vertebrate homologue of Drosophila trithorax and is often affected in chromosomal rearrangements that are linked to acute leukemias, such as acute lymphocytic leukemia (ALL). Bromodomains are found in many ...

smart00542
Location:3686 → 3769

FYRC; FY-rich domain, C-terminal region

cd15588
Location:1451 → 1497

PHD1_KMT2A; PHD finger 1 found in histone-lysine N-methyltransferase 2A (KMT2A)

cd15590
Location:1499 → 1548

PHD2_KMT2A; PHD finger 2 found in histone-lysine N-methyltransferase 2A (KMT2A)

cd15592
Location:1586 → 1645

PHD3_KMT2A; PHD finger 3 found in histone-lysine N-methyltransferase 2A (KMT2A)

cd15693
Location:1892 → 2004

ePHD_KMT2A; Extended PHD finger found in histone-lysine N-methyltransferase 2A (KMT2A)

pfam02008
Location:1145 → 1192

zf-CXXC; CXXC zinc finger domain

cd19170
Location:3833 → 3986

SET_KMT2A_2B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 2A (KMT2A), 2B (KMT2B) and similar proteins

pfam05964
Location:2045 → 2092

FYRN; F/Y-rich N-terminus
XM_063265437.1 → XP_063121507.1 histone-lysine N-methyltransferase 2A isoform X8
XM_063265436.1 → XP_063121506.1 histone-lysine N-methyltransferase 2A isoform X7