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MOUSE:KMT2A
Contents
| 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 |
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 | |||||
|
involved_in |
GO:0060216 |
definitive hemopoiesis |
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 |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:2000615 |
regulation of histone H3-K9 acetylation |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0071440 |
regulation of histone H3-K14 acetylation |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0032922 |
circadian regulation of gene expression |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0045893 |
positive regulation of transcription, DNA-templated |
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 |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0071339 |
MLL1 complex |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
enables |
GO:0070577 |
lysine-acetylated histone binding |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0045893 |
positive regulation of transcription, DNA-templated |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
enables |
GO:0045322 |
unmethylated CpG binding |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0043984 |
histone H4-K16 acetylation |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
enables |
GO:0042800 |
histone methyltransferase activity (H3-K4 specific) |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
| GO:0045944 |
positive regulation of transcription from RNA polymerase II promoter |
ECO:0000315 |
P |
Figure 1: MLL activates expression of specific Hox genes in fibroblasts |
complete | |||||
|
part_of |
GO:0035097 |
histone methyltransferase complex |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
enables |
GO:0008270 |
zinc ion binding |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
| GO:0042800 |
histone methyltransferase activity (H3-K4 specific) |
ECO:0000314 |
F |
Figure 6A-C |
complete | |||||
|
acts_upstream_of_or_within |
GO:2001040 |
positive regulation of cellular response to drug |
ECO:0000266 |
sequence orthology evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
acts_upstream_of_or_within |
GO:1905642 |
negative regulation of DNA methylation |
ECO:0000266 |
sequence orthology evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
acts_upstream_of_or_within |
GO:1901674 |
regulation of histone H3-K27 acetylation |
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 |
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 |
ECO:0000266 |
sequence orthology evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0071339 |
MLL1 complex |
ECO:0000266 |
sequence orthology evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
enables |
GO:0070577 |
lysine-acetylated histone binding |
ECO:0000266 |
sequence orthology evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
|
acts_upstream_of_or_within |
GO:0065003 |
protein-containing complex assembly |
ECO:0000266 |
sequence orthology evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
acts_upstream_of_or_within |
GO:0051569 |
regulation of histone H3-K4 methylation |
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:0050890 |
cognition |
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 |
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 |
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 |
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 |
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 |
ECO:0000266 |
sequence orthology evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
acts_upstream_of_or_within |
GO:0045893 |
positive regulation of transcription, DNA-templated |
ECO:0000266 |
sequence orthology evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
enables |
GO:0045322 |
unmethylated CpG binding |
ECO:0000266 |
sequence orthology evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
|
acts_upstream_of_or_within |
GO:0044648 |
histone H3-K4 dimethylation |
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 |
ECO:0000266 |
sequence orthology evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
|
acts_upstream_of_or_within |
GO:0043984 |
histone H4-K16 acetylation |
ECO:0000266 |
sequence orthology evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
enables |
GO:0042803 |
protein homodimerization activity |
ECO:0000266 |
sequence orthology evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
|
enables |
GO:0042802 |
identical protein binding |
ECO:0000266 |
sequence orthology evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
|
enables |
GO:0042800 |
histone methyltransferase activity (H3-K4 specific) |
ECO:0000266 |
sequence orthology evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
|
acts_upstream_of_or_within |
GO:0035640 |
exploration behavior |
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 |
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 |
ECO:0000266 |
sequence orthology evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
acts_upstream_of_or_within |
GO:0032411 |
positive regulation of transporter activity |
ECO:0000266 |
sequence orthology evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
acts_upstream_of_or_within |
GO:0018026 |
peptidyl-lysine monomethylation |
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 |
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 |
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 |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
acts_upstream_of_or_within |
GO:0009791 |
post-embryonic development |
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 |
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 |
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 |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
enables |
GO:0008270 |
zinc ion binding |
ECO:0000266 |
sequence orthology evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
|
acts_upstream_of_or_within |
GO:0006306 |
DNA methylation |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
has_participant:(MGI:MGI:96208) |
Seeded From UniProt |
complete | ||
|
part_of |
GO:0005829 |
cytosol |
ECO:0000266 |
sequence orthology evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005654 |
nucleoplasm |
ECO:0000266 |
sequence orthology evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005634 |
nucleus |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
part_of:(CL:0000057) |
Seeded From UniProt |
complete | ||
|
part_of |
GO:0005634 |
nucleus |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005634 |
nucleus |
ECO:0000266 |
sequence orthology evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
enables |
GO:0003682 |
chromatin binding |
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 |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0051899 |
membrane depolarization |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:F1M0L3 |
P |
Seeded From UniProt |
complete | ||
|
involved_in |
GO:0035864 |
response to potassium ion |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:F1M0L3 |
P |
Seeded From UniProt |
complete | ||
|
enables |
GO:0003677 |
DNA binding |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005634 |
nucleus |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0006355 |
regulation of transcription, DNA-templated |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
|
enables |
GO:0008270 |
zinc ion binding |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0035097 |
histone methyltransferase complex |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
enables |
GO:0042800 |
histone methyltransferase activity (H3-K4 specific) |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0071339 |
MLL1 complex |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
enables |
GO:0018024 |
histone-lysine N-methyltransferase activity |
ECO:0000501 |
evidence used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
|
enables |
GO:0046872 |
metal ion binding |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005634 |
nucleus |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0032259 |
methylation |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
|
enables |
GO:0016740 |
transferase activity |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
|
enables |
GO:0003677 |
DNA binding |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
|
enables |
GO:0008168 |
methyltransferase activity |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0048511 |
rhythmic process |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0006325 |
chromatin organization |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ 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
- ↑ 2.0 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
- ↑ 3.0 3.1 Milne, TA et al. (2002) MLL targets SET domain methyltransferase activity to Hox gene promoters. Mol. Cell 10 1107-17 PubMed GONUTS page
- ↑ 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
- ↑ 5.0 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
- ↑ 6.0 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
- ↑ 7.0 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
- ↑ Yagi, H et al. (1998) Growth disturbance in fetal liver hematopoiesis of Mll-mutant mice. Blood 92 108-17 PubMed GONUTS page
- ↑ 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
- ↑ 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
- ↑ Vijayaraghavan, J et al. (2014) miR-24 regulates menin in the endocrine pancreas. Am. J. Physiol. Endocrinol. Metab. 307 E84-92 PubMed GONUTS page
c
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- GO:0006306 ! obsolete DNA methylation
- GO:0018024 ! obsolete histone lysine N-methyltransferase activity
- GO:0080182 ! obsolete histone H3-K4 trimethylation
- GO:0043984 ! obsolete histone H4-K16 acetylation
- GO:0044648 ! obsolete histone H3-K4 dimethylation
- GO:1905642 ! obsolete negative regulation of DNA methylation
- GO:0051571 ! obsolete positive regulation of histone H3-K4 methylation
- GO:0051569 ! obsolete regulation of histone H3-K4 methylation
- GO:0071440 ! obsolete regulation of histone H3-K14 acetylation
- GO:2000615 ! obsolete regulation of histone H3-K9 acetylation
- GO:1901674 ! obsolete regulation of histone H3-K27 acetylation
p
- GO:0018026 ! peptidyl-lysine monomethylation
- GO:0045893 ! positive regulation of DNA-templated transcription
- GO:2001040 ! positive regulation of cellular response to drug
- GO:0032411 ! positive regulation of transporter activity
- GO:0045944 ! positive regulation of transcription by RNA polymerase II
- GO:0009791 ! post-embryonic development
- GO:0065003 ! protein-containing complex assembly
- GO:0042803 ! protein homodimerization activity
r
- GO:0006355 ! regulation of DNA-templated transcription
- GO:0048172 ! regulation of short-term neuronal synaptic plasticity
- GO:0010468 ! regulation of gene expression
- GO:0009416 ! response to light stimulus
- GO:0035864 ! response to potassium ion
- GO:0048511 ! rhythmic process
- GO:0000980 ! RNA polymerase II distal enhancer sequence-specific DNA binding
- Rodentia
