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KMT2A

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GENERAL INFORMATION

Gene name

 KMT2A

Gene description

 Lysine (K)-specific methyltransferase 2A

Protein class

 Cancer-related genes
Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Transcription factors

Predicted localization

 Intracellular

Number of transcripts

 8
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HUMAN PROTEIN ATLAS INFORMATION

Summary

 Mainly localized to the nucleoplasm. In addition localized to the cytosol.

RNA cell category

 Expressed in all

Protein evidence

 Evidence at protein level

Main location

 Localized to the Nucleoplasm (supported)

Additional location

 In addition localized to the Cytosol (approved)

DATA RELIABILITY

Reliability score

 Supported based on 1 antibody.
HPA044910
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ASSAYS
RNA expression
Human cells
Mouse cells

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

HUMAN CELLS

Summary

 Mainly localized to the nucleoplasm. In addition localized to the cytosol.

Main location

 Nucleoplasm (supported)

Additional location

 Cytosol (approved)

 

 

 
Toggle channels
Low
High
G1
S
G2
M
N/A

Thumbnail

Antibody

Cell line

Location

Single-cell variation

Cell cycle dependent variation
HPA044910 A-431 Nucleoplasm
HPA044910 U-2 OS Nucleoplasm
HPA044910 U-251 MG Nucleoplasm
Cytosol

MOUSE CELLS

Main location

 Not available

Mouse gene

 ENSMUSG00000002028 (version 83)

 

 

 
Toggle channels
Low
High
G1
S
G2
M
N/A

Thumbnail

Antibody

Cell line

Location
HPA044910 NIH 3T3 Nucleus
Nucleoli fibrillar center

GENE INFORMATION

Gene name

 KMT2A (HGNC Symbol)

Synonyms

 ALL-1, CXXC7, HRX, HTRX1, MLL, MLL1A, TRX1

Description

 Lysine (K)-specific methyltransferase 2A (HGNC Symbol)

Entrez gene summary

 This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]

Chromosome

 11

Cytoband

 q23.3

Chromosome location (bp)

 118436490 - 118526832

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000118058 (version 83.38)

Entrez gene

 4297

UniProt

 Q03164 (UniProt - Evidence at protein level)

neXtProt

 NX_Q03164

Antibodypedia

 KMT2A antibodies

PROTEIN BROWSER
KMT2A-001
KMT2A-002
KMT2A-006
KMT2A-007
KMT2A-010
KMT2A-015
KMT2A-016
KMT2A-017

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
KMT2A-001
ENSP00000436786
ENST00000534358
Q03164 [Direct mapping]
Histone-lysine N-methyltransferase 2A MLL cleavage product N320 MLL cleavage product C180
Show all
Enzymes
   ENZYME proteins
   Transferases
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Transcription factors
   Zinc-coordinating DNA-binding domains
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Other Mutations
   COSMIC Translocations
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001046 [core promoter sequence-specific DNA binding]
GO:0003677 [DNA binding]
GO:0003680 [AT DNA binding]
GO:0003682 [chromatin binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006306 [DNA methylation]
GO:0006325 [chromatin organization]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0006461 [protein complex assembly]
GO:0006915 [apoptotic process]
GO:0008270 [zinc ion binding]
GO:0008285 [negative regulation of cell proliferation]
GO:0008542 [visual learning]
GO:0009416 [response to light stimulus]
GO:0009791 [post-embryonic development]
GO:0009952 [anterior/posterior pattern specification]
GO:0010468 [regulation of gene expression]
GO:0018026 [peptidyl-lysine monomethylation]
GO:0032411 [positive regulation of transporter activity]
GO:0032922 [circadian regulation of gene expression]
GO:0035097 [histone methyltransferase complex]
GO:0035162 [embryonic hemopoiesis]
GO:0035640 [exploration behavior]
GO:0035864 [response to potassium ion]
GO:0042800 [histone methyltransferase activity (H3-K4 specific)]
GO:0042802 [identical protein binding]
GO:0042803 [protein homodimerization activity]
GO:0043984 [histone H4-K16 acetylation]
GO:0044212 [transcription regulatory region DNA binding]
GO:0044648 [histone H3-K4 dimethylation]
GO:0045322 [unmethylated CpG binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0048172 [regulation of short-term neuronal synaptic plasticity]
GO:0048536 [spleen development]
GO:0048873 [homeostasis of number of cells within a tissue]
GO:0050890 [cognition]
GO:0051568 [histone H3-K4 methylation]
GO:0051569 [regulation of histone H3-K4 methylation]
GO:0051571 [positive regulation of histone H3-K4 methylation]
GO:0051899 [membrane depolarization]
GO:0060216 [definitive hemopoiesis]
GO:0070577 [lysine-acetylated histone binding]
GO:0071339 [MLL1 complex]
GO:0071440 [regulation of histone H3-K14 acetylation]
GO:0080182 [histone H3-K4 trimethylation]
GO:1901674 [regulation of histone H3-K27 acetylation]
GO:2000615 [regulation of histone H3-K9 acetylation]
GO:2001040 [positive regulation of cellular response to drug]
Show all
 3972 aa
432 kDa 		No 0
KMT2A-002
ENSP00000432391
ENST00000531904
E9PR05 [Direct mapping]
Histone-lysine N-methyltransferase 2A
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Other Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0008270 [zinc ion binding]
Show all
 1439 aa
155.5 kDa 		No 0
KMT2A-006
ENSP00000436564
ENST00000529852
H0YEU4 [Direct mapping]
Histone-lysine N-methyltransferase 2A
Show all
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Other Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
 87 aa
8.6 kDa 		No 0
KMT2A-007
ENSP00000436700
ENST00000533790
H7C5W4 [Direct mapping]
Histone-lysine N-methyltransferase 2A
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Other Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0008270 [zinc ion binding]
Show all
 268 aa
28.4 kDa 		No 0
KMT2A-010
ENSP00000434618
ENST00000532204
H0YEU4 [Direct mapping]
Histone-lysine N-methyltransferase 2A
Show all
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Other Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
 87 aa
8.6 kDa 		No 0
KMT2A-015
ENSP00000374157
ENST00000389506
Q03164 [Direct mapping]
Histone-lysine N-methyltransferase 2A MLL cleavage product N320 MLL cleavage product C180
Show all
Enzymes
   ENZYME proteins
   Transferases
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Transcription factors
   Zinc-coordinating DNA-binding domains
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Other Mutations
   COSMIC Translocations
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001046 [core promoter sequence-specific DNA binding]
GO:0003677 [DNA binding]
GO:0003680 [AT DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006325 [chromatin organization]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0006461 [protein complex assembly]
GO:0006915 [apoptotic process]
GO:0008270 [zinc ion binding]
GO:0032411 [positive regulation of transporter activity]
GO:0032922 [circadian regulation of gene expression]
GO:0035097 [histone methyltransferase complex]
GO:0035162 [embryonic hemopoiesis]
GO:0042800 [histone methyltransferase activity (H3-K4 specific)]
GO:0042802 [identical protein binding]
GO:0042803 [protein homodimerization activity]
GO:0043984 [histone H4-K16 acetylation]
GO:0044212 [transcription regulatory region DNA binding]
GO:0045322 [unmethylated CpG binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0051568 [histone H3-K4 methylation]
GO:0051571 [positive regulation of histone H3-K4 methylation]
GO:0070577 [lysine-acetylated histone binding]
GO:0071339 [MLL1 complex]
GO:0071440 [regulation of histone H3-K14 acetylation]
GO:0080182 [histone H3-K4 trimethylation]
GO:2000615 [regulation of histone H3-K9 acetylation]
GO:2001040 [positive regulation of cellular response to drug]
Show all
 3969 aa
431.8 kDa 		No 0
KMT2A-016
ENSP00000432652
ENST00000527869
H7C5V8 [Direct mapping]
Histone-lysine N-methyltransferase 2A
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Other Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
 160 aa
16.9 kDa 		No 0
KMT2A-017
ENSP00000376612
ENST00000392873
H7BYJ6 [Direct mapping]
Histone-lysine N-methyltransferase 2A
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Other Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0008270 [zinc ion binding]
Show all
 366 aa
41.2 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.