RNA polymerase II cis-regulatory region sequence-specific DNA binding
Cellular component
nucleoplasm
nucleus
histone methyltransferase complex
cytosol
MLL1 complex
Biological process
visual learning
response to potassium ion
regulation of transcription, DNA-templated
cognition
positive regulation of transporter activity
positive regulation of cellular response to drug
response to light stimulus
rhythmic process
regulation of short-term neuronal synaptic plasticity
histone H3-K4 trimethylation
membrane depolarization
regulation of histone H3-K4 methylation
regulation of histone H3-K9 acetylation
transcription by RNA polymerase II
post-embryonic development
peptidyl-lysine monomethylation
spleen development
circadian regulation of gene expression
regulation of histone H3-K14 acetylation
transcription, DNA-templated
regulation of histone H3-K27 acetylation
positive regulation of transcription, DNA-templated
DNA methylation
histone H3-K4 methylation
methylation
positive regulation of histone H3-K4 methylation
exploration behavior
embryonic hemopoiesis
histone H3-K4 dimethylation
regulation of gene expression
homeostasis of number of cells within a tissue
histone H4-K16 acetylation
definitive hemopoiesis
anterior/posterior pattern specification
negative regulation of cell population proliferation
apoptotic process
regulation of megakaryocyte differentiation
regulation of hematopoietic stem cell differentiation
chromatin organization
positive regulation of transcription by RNA polymerase II
protein-containing complex assembly
negative regulation of DNA methylation
Sources:Amigo / QuickGO
Orthologs
Species
Human
Mouse
Entrez
4297
214162
Ensembl
ENSG00000118058
ENSMUSG00000002028
UniProt
Q03164
P55200
RefSeq (mRNA)
NM_001197104 NM_005933 NM_024891
NM_001081049 NM_001357549
RefSeq (protein)
NP_001184033 NP_005924
NP_001344478
Location (UCSC)
Chr 11: 118.44 – 118.53 Mb
Chr 9: 44.71 – 44.79 Mb
PubMed search
[3]
[4]
Wikidata
View/Edit Human
View/Edit Mouse
Histone-lysine N-methyltransferase 2A, also known as acute lymphoblastic leukemia 1 (ALL-1), myeloid/lymphoid or mixed-lineage leukemia1 (MLL1), or zinc finger protein HRX (HRX), is an enzyme that in humans is encoded by the KMT2A gene.[5]
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[6] 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.
^ abcGRCh38: Ensembl release 89: ENSG00000118058 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000002028 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Ziemin-van der Poel S, McCabe NR, Gill HJ, Espinosa R, Patel Y, Harden A, et al. (December 1991). "Identification of a gene, MLL, that spans the breakpoint in 11q23 translocations associated with human leukemias". Proceedings of the National Academy of Sciences of the United States of America. 88 (23): 10735–9. doi:10.1073/pnas.88.23.10735. PMC 53005. PMID 1720549.
^Goto NK, Zor T, Martinez-Yamout M, Dyson HJ, Wright PE (November 2002). "Cooperativity in transcription factor binding to the coactivator CREB-binding protein (CBP). The mixed lineage leukemia protein (MLL) activation domain binds to an allosteric site on the KIX domain" (PDF). The Journal of Biological Chemistry. 277 (45): 43168–74. doi:10.1074/jbc.M207660200. PMID 12205094. S2CID 30354764.; Prasad R, Yano T, Sorio C, Nakamura T, Rallapalli R, Gu Y, et al. (December 1995). "Domains with transcriptional regulatory activity within the ALL1 and AF4 proteins involved in acute leukemia". Proceedings of the National Academy of Sciences of the United States of America. 92 (26): 12160–4. Bibcode:1995PNAS...9212160P. doi:10.1073/pnas.92.26.12160. PMC 40316. PMID 8618864.; Ernst P, Wang J, Huang M, Goodman RH, Korsmeyer SJ (April 2001). "MLL and CREB bind cooperatively to the nuclear coactivator CREB-binding protein". Molecular and Cellular Biology. 21 (7): 2249–58. doi:10.1128/MCB.21.7.2249-2258.2001. PMC 86859. PMID 11259575.
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...
Acute promyelocytic leukaemia with PML-RARA AML with t(9;11)(p21.3;q23.3); KMT2A-MLLT3 AML with t(6;9)(p23;q34.1); DEK-NUP214 AML with inv(3)(q21.3q26.2)...
Lightfoot, mayor of Chicago Morel-Lavallée lesion An enzyme encoded by the KMT2A gene This disambiguation page lists articles associated with the title MLL...
Infant ALL is a rare variant that occurs in babies less than one year old. KMT2A (formerly MLL) gene rearrangements are most common and occur in the embryo...
with translocations between chromosome 9 and 11 – [t(9;11)(p21.3;q23.3);] KMT2A-MLLT3; AML with translocations between chromosome 6 and 9 – [t(6;9)(p23;q34...
Known motif – from protein with 100% identical DBD – in vitro [474] TAACGG KMT2A ENSG00000118058 CxxC; AT hook Known motif – High-throughput in vitro [475]...
gene). The KMT2A and KMT2D gene product proteins regulate gene transcription and may contribute to the development of various cancers (see KMT2A and KMT2D)...
"MLL site", named after the proto-oncogene MLL (Mixed Lineage Leukemia, KMT2A). The paralogous coactivators CBP (CREBBP) and P300 (EP300) are recruited...
as a complex with MLL (myeloid/lymphoid or mixed-lineage leukaemia 1) (KMT2A), a positive global regulator of gene transcription that is named after...
repression. Mice deficient in a particular histone-methyltransferase gene, KMT2A (also known as MLL1), in adult excitatory neurons show impairments in...
of a family of six Set1-like H3K4 methyltransferases that also contains KMT2A (or MLL1), KMT2B (or MLL2), KMT2C (or MLL3), KMT2F (or SET1A), and KMT2G...
translocations associated with leukemia can fuse this gene with others like KMT2A, producing an uncontrolled activator protein. GRCh38: Ensembl release 89:...
chromosome 13, or NRC1 locus on the long arm of chromosome 5; 3) fusions of KMT2A on the long arm of chromosome 11 with MLLT1 on the short arm of chromosome...
involved with chromatin remodeling (i.e. modifying chromatin architecture), KMT2A and CREBBP, have also been identified in the tumor cells of some EPS cases...
cell death) and the product protein of KMT2a viz., MLL regulates cell maturation. Abnormalities in BCL2 and KMT2A are associated with other types of B-cell...