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MOUSE:KMT2A

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Species (Taxon ID) Mus musculus (Mouse). (10090)
Gene Name(s) Kmt2a (synonyms: All1, Hrx, Mll, Mll1)
Protein Name(s) Histone-lysine N-methyltransferase 2A

Lysine N-methyltransferase 2A ALL-1 Myeloid/lymphoid or mixed-lineage leukemia Myeloid/lymphoid or mixed-lineage leukemia protein 1 Zinc finger protein HRX MLL cleavage product N320 N-terminal cleavage product of 320 kDa p320 MLL cleavage product C180 C-terminal cleavage product of 180 kDa p180

External Links
UniProt P55200
EMBL AC061963
AC142113
L17069
AK140439
AK149341
CCDS CCDS40603.1
RefSeq NP_001074518.1
UniGene Mm.2389
ProteinModelPortal P55200
SMR P55200
DIP DIP-58597N
IntAct P55200
MINT MINT-4084570
PhosphoSite P55200
MaxQB P55200
PaxDb P55200
PRIDE P55200
Ensembl ENSMUST00000002095
ENSMUST00000114689
GeneID 214162
KEGG mmu:214162
UCSC uc009pep.1
uc009peq.1
CTD 4297
MGI MGI:96995
eggNOG COG2940
GeneTree ENSGT00760000119228
HOGENOM HOG000112954
HOVERGEN HBG051927
InParanoid P55200
KO K09186
OMA RIMSPMR
OrthoDB EOG7XH6NX
TreeFam TF319820
NextBio 374214
PRO PR:P55200
Proteomes UP000000589
Bgee P55200
CleanEx MM_MLL1
ExpressionAtlas P55200
Genevestigator P55200
GO GO:0005737
GO:0035097
GO:0071339
GO:0005634
GO:0003682
GO:0042800
GO:0070577
GO:0044212
GO:0045322
GO:0008270
GO:0009952
GO:0006306
GO:0035162
GO:0051568
GO:0080182
GO:0043984
GO:0008285
GO:2001040
GO:0045944
GO:0045893
GO:0032411
GO:0006461
GO:0051569
GO:0006351
Gene3D 3.30.40.10
InterPro IPR017956
IPR001487
IPR003889
IPR003888
IPR016569
IPR003616
IPR001214
IPR002857
IPR011011
IPR001965
IPR019787
IPR013083
Pfam PF05965
PF05964
PF00628
PF00856
PF02008
PIRSF PIRSF010354
SMART SM00384
SM00297
SM00542
SM00541
SM00249
SM00508
SM00317
SUPFAM SSF47370
SSF57903
PROSITE PS50014
PS51543
PS51542
PS50868
PS50280
PS51058
PS01359
PS50016

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status
GO:0060216

definitive hemopoiesis

PMID:15556871[1]

ECO:0000315

P

Figure 2C shows the failure of MII-deficient cells to give rise to hematopoietic colonies. Figure 2 A and B shows the normal development of cells for MII and MII-deficient cells, indicating normal differentiation. Thus, MII-deficient cells develop normally until hematopoietic differentiation. The lack of differentiation results in a failure to develop a hematopoietic center in the body.

complete
CACAO 4421

involved_in

GO:0060216

definitive hemopoiesis

PMID:15556871[1]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0000980

RNA polymerase II distal enhancer sequence-specific DNA binding

PMID:21113167[2]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:2000615

regulation of histone H3-K9 acetylation

PMID:21113167[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0071440

regulation of histone H3-K14 acetylation

PMID:21113167[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0032922

circadian regulation of gene expression

PMID:21113167[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0045893

positive regulation of transcription, DNA-templated

PMID:21113167[2]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0051571

positive regulation of histone H3-K4 methylation

PMID:21113167[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0071339

MLL1 complex

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q03164

C

Seeded From UniProt

complete

enables

GO:0070577

lysine-acetylated histone binding

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q03164

F

Seeded From UniProt

complete

involved_in

GO:0051568

histone H3-K4 methylation

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q03164

P

Seeded From UniProt

complete

involved_in

GO:0045893

positive regulation of transcription, DNA-templated

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q03164

P

Seeded From UniProt

complete

enables

GO:0045322

unmethylated CpG binding

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q03164

F

Seeded From UniProt

complete

involved_in

GO:0043984

histone H4-K16 acetylation

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q03164

P

Seeded From UniProt

complete

enables

GO:0042800

histone methyltransferase activity (H3-K4 specific)

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q03164

F

Seeded From UniProt

complete

GO:0045944

positive regulation of transcription from RNA polymerase II promoter

PMID:12453418[3]

ECO:0000315

P

Figure 1: MLL activates expression of specific Hox genes in fibroblasts

complete
CACAO 11076

part_of

GO:0035097

histone methyltransferase complex

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q03164

C

Seeded From UniProt

complete

GO:0051568

histone H3-K4 methylation

PMID:12453418[3]

ECO:0000314

P

Figure 5A, C-E

complete
CACAO 11077

enables

GO:0008270

zinc ion binding

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q03164

F

Seeded From UniProt

complete

GO:0042800

histone methyltransferase activity (H3-K4 specific)

PMID:12453418[3]

ECO:0000314

F

Figure 6A-C

complete
CACAO 11078

acts_upstream_of_or_within

GO:2001040

positive regulation of cellular response to drug

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q03164

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:1905642

negative regulation of DNA methylation

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q03164

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:1901674

regulation of histone H3-K27 acetylation

PMID:25834037[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:3839794

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0080182

histone H3-K4 trimethylation

PMID:25834037[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:3839794

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0080182

histone H3-K4 trimethylation

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q03164

P

Seeded From UniProt

complete

part_of

GO:0071339

MLL1 complex

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q03164

C

Seeded From UniProt

complete

enables

GO:0070577

lysine-acetylated histone binding

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q03164

F

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0065003

protein-containing complex assembly

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q03164

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0051569

regulation of histone H3-K4 methylation

PMID:16618927[5]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

regulates_o_occurs_in:(CL:0000057)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0051568

histone H3-K4 methylation

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q03164

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0050890

cognition

PMID:25834037[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:3839794

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0048873

homeostasis of number of cells within a tissue

PMID:22674806[6]

ECO:0000316

genetic interaction evidence used in manual assertion

MGI:MGI:95559

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0048536

spleen development

PMID:22674806[6]

ECO:0000316

genetic interaction evidence used in manual assertion

MGI:MGI:95559

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0048172

regulation of short-term neuronal synaptic plasticity

PMID:25834037[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:3839794

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0045944

positive regulation of transcription by RNA polymerase II

PMID:15640349[7]

ECO:0000316

genetic interaction evidence used in manual assertion

MGI:MGI:1316736

P

has_regulation_target:(MGI:MGI:104565)|has_regulation_target:(MGI:MGI:105388)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0045944

positive regulation of transcription by RNA polymerase II

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q03164

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0045893

positive regulation of transcription, DNA-templated

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q03164

P

Seeded From UniProt

complete

enables

GO:0045322

unmethylated CpG binding

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q03164

F

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0044648

histone H3-K4 dimethylation

PMID:25834037[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:3839794

P

Seeded From UniProt

complete

enables

GO:0044212

transcription regulatory region DNA binding

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q03164

F

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0043984

histone H4-K16 acetylation

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q03164

P

Seeded From UniProt

complete

enables

GO:0042803

protein homodimerization activity

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q03164

F

Seeded From UniProt

complete

enables

GO:0042802

identical protein binding

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q03164

F

Seeded From UniProt

complete

enables

GO:0042800

histone methyltransferase activity (H3-K4 specific)

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q03164

F

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0035640

exploration behavior

PMID:25834037[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:3839794

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0035162

embryonic hemopoiesis

PMID:9639506[8]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:2177818

P

has_participant:(EMAPA:16846)

Seeded From UniProt

complete

part_of

GO:0035097

histone methyltransferase complex

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q03164

C

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0032411

positive regulation of transporter activity

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q03164

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0018026

peptidyl-lysine monomethylation

PMID:25834037[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:3839794

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0010468

regulation of gene expression

PMID:25834037[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:3839794

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0009952

anterior/posterior pattern specification

PMID:15741318[9]

ECO:0000316

genetic interaction evidence used in manual assertion

MGI:MGI:1932339

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0009952

anterior/posterior pattern specification

PMID:16618927[5]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0009791

post-embryonic development

PMID:22674806[6]

ECO:0000316

genetic interaction evidence used in manual assertion

MGI:MGI:95559

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0009416

response to light stimulus

PMID:25834037[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:3839794

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0008542

visual learning

PMID:25834037[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:3839794

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0008285

negative regulation of cell population proliferation

PMID:15640349[7]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0008270

zinc ion binding

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q03164

F

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0006306

DNA methylation

PMID:16618927[5]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

has_participant:(MGI:MGI:96208)

Seeded From UniProt

complete

part_of

GO:0005829

cytosol

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q03164

C

Seeded From UniProt

complete

part_of

GO:0005654

nucleoplasm

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q03164

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:16618927[5]

ECO:0000314

direct assay evidence used in manual assertion

C

part_of:(CL:0000057)

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:11555636[10]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000008

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q03164

C

Seeded From UniProt

complete

enables

GO:0003682

chromatin binding

PMID:15640349[7]

ECO:0000314

direct assay evidence used in manual assertion

F

has_participant:(MGI:MGI:104565)|has_participant:(MGI:MGI:105388)

Seeded From UniProt

complete

enables

GO:0003677

DNA binding

PMID:24824656[11]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0051899

membrane depolarization

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:F1M0L3
ensembl:ENSRNOP00000020573

P

Seeded From UniProt

complete

involved_in

GO:0035864

response to potassium ion

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:F1M0L3
ensembl:ENSRNOP00000020573

P

Seeded From UniProt

complete

enables

GO:0003677

DNA binding

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR002857

F

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR003888
InterPro:IPR003889

C

Seeded From UniProt

complete

involved_in

GO:0006355

regulation of transcription, DNA-templated

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR016569

P

Seeded From UniProt

complete

enables

GO:0008270

zinc ion binding

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR002857
InterPro:IPR016569

F

Seeded From UniProt

complete

part_of

GO:0035097

histone methyltransferase complex

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR016569

C

Seeded From UniProt

complete

enables

GO:0042800

histone methyltransferase activity (H3-K4 specific)

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR016569
InterPro:IPR037927

F

Seeded From UniProt

complete

involved_in

GO:0051568

histone H3-K4 methylation

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR016569

P

Seeded From UniProt

complete

part_of

GO:0071339

MLL1 complex

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR037927

C

Seeded From UniProt

complete

enables

GO:0018024

histone-lysine N-methyltransferase activity

GO_REF:0000003

ECO:0000501

evidence used in automatic assertion

EC:2.1.1.43

F

Seeded From UniProt

complete

enables

GO:0046872

metal ion binding

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0479

F

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0539
UniProtKB-SubCell:SL-0191

C

Seeded From UniProt

complete

involved_in

GO:0032259

methylation

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0489

P

Seeded From UniProt

complete

enables

GO:0016740

transferase activity

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0808

F

Seeded From UniProt

complete

enables

GO:0003677

DNA binding

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0238

F

Seeded From UniProt

complete

enables

GO:0008168

methyltransferase activity

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0489

F

Seeded From UniProt

complete

involved_in

GO:0048511

rhythmic process

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0090

P

Seeded From UniProt

complete

involved_in

GO:0006325

chromatin organization

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0156

P

Seeded From UniProt

complete

Notes

References

See Help:References for how to manage references in GONUTS.

  1. 1.0 1.1 Ernst, P et al. (2004) An Mll-dependent Hox program drives hematopoietic progenitor expansion. Curr. Biol. 14 2063-9 PubMed GONUTS page
  2. 2.0 2.1 2.2 2.3 2.4 2.5 Katada, S & Sassone-Corsi, P (2010) The histone methyltransferase MLL1 permits the oscillation of circadian gene expression. Nat. Struct. Mol. Biol. 17 1414-21 PubMed GONUTS page
  3. 3.0 3.1 3.2 Milne, TA et al. (2002) MLL targets SET domain methyltransferase activity to Hox gene promoters. Mol. Cell 10 1107-17 PubMed GONUTS page
  4. 4.0 4.1 4.2 4.3 4.4 4.5 4.6 4.7 4.8 4.9 Jakovcevski, M et al. (2015) Neuronal Kmt2a/Mll1 histone methyltransferase is essential for prefrontal synaptic plasticity and working memory. J. Neurosci. 35 5097-108 PubMed GONUTS page
  5. 5.0 5.1 5.2 5.3 Terranova, R et al. (2006) Histone and DNA methylation defects at Hox genes in mice expressing a SET domain-truncated form of Mll. Proc. Natl. Acad. Sci. U.S.A. 103 6629-34 PubMed GONUTS page
  6. 6.0 6.1 6.2 Zorko, NA et al. (2012) Mll partial tandem duplication and Flt3 internal tandem duplication in a double knock-in mouse recapitulates features of counterpart human acute myeloid leukemias. Blood 120 1130-6 PubMed GONUTS page
  7. 7.0 7.1 7.2 Milne, TA et al. (2005) Menin and MLL cooperatively regulate expression of cyclin-dependent kinase inhibitors. Proc. Natl. Acad. Sci. U.S.A. 102 749-54 PubMed GONUTS page
  8. Yagi, H et al. (1998) Growth disturbance in fetal liver hematopoiesis of Mll-mutant mice. Blood 92 108-17 PubMed GONUTS page
  9. Isono, K et al. (2005) Mammalian polycomb-mediated repression of Hox genes requires the essential spliceosomal protein Sf3b1. Genes Dev. 19 536-41 PubMed GONUTS page
  10. Sutherland, HG et al. (2001) Large-scale identification of mammalian proteins localized to nuclear sub-compartments. Hum. Mol. Genet. 10 1995-2011 PubMed GONUTS page
  11. Vijayaraghavan, J et al. (2014) miR-24 regulates menin in the endocrine pancreas. Am. J. Physiol. Endocrinol. Metab. 307 E84-92 PubMed GONUTS page