KMT2A
Sign in to saveAlso known as ALL-1, CXXC7, HRX, HTRX1, MLL, MLL/GAS7, MLL1, MLL1A
'Histone-lysine N-methyltransferase 2A, also known as acute lymphoblastic leukemia 1 (ALL-1), myeloid/lymphoid or mixed-lineage leukemia 1 (MLL1), or zinc finger protein HRX (HRX), is an enzyme that in humans is encoded by the KMT2A''''' gene.
Gene data
KMT2A- Name
- lysine methyltransferase 2A
- Type
- protein-coding
- Position
- 118,436,456–118,526,832 (+)
- Aliases
- ALL-1, ALL1, CXXC7, GAS7, HRX, HTRX, HTRX1, MLL, MLL1, MLL1A
- Ensembl
- ENSG00000118058
- RefSeq RNA
- NM_001197104.2, NM_001412597.1, NM_005933.4, NM_024891.2, XM_006718839.4
- RefSeq protein
- NP_001184033.1, NP_001399526.1, NP_005924.2, XP_006718902.2, XP_011541131.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
lysine methyltransferase 2A
- Symbol
- KMT2A
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 11:118,436,456-118,526,832
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Image
- Protein MLL PDB 2j2s.png
Show 5 more facts
- HomoloGene ID
- 4338
- exact match
- identifiers.org/ncbigene/4297
- genomic start
- 118436456
- genomic end
- 118397539
- cytogenetic location
- 11q23.3
via Wikidata · CC0
~5 min read
Article
12 sectionsContents
- Function
- Transcriptional regulation
- Cognition and emotion
- Stem cells
- Structure
- Gene
- Protein
- Clinical significance
- Interactions
- References
- Further reading
- External links
'Histone-lysine N-methyltransferase 2A, also known as acute lymphoblastic leukemia 1 (ALL-1), myeloid/lymphoid or mixed-lineage leukemia 1 (MLL1), or zinc finger protein HRX (HRX), is an enzyme that in humans is encoded by the KMT2A''' gene.
MLL1 is a histone methyltransferase deemed a positive global regulator of gene transcription. This protein belongs to the group of histone-modifying enzymes comprising transactivation domain 9aaTAD and is involved in the epigenetic maintenance of transcriptional memory. Its role as an epigenetic regulator of neuronal function is an ongoing area of research.