| Gene Symbol |
KMT2A
|
| Entrez Gene |
4297
|
| Alt Symbol |
ALL-1, CXXC7, HRX, HTRX1, MLL, MLL/GAS7, MLL1, MLL1A, TET1-MLL, TRX1, WDSTS
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
lysine (K)-specific methyltransferase 2A
|
| Other Description |
CDK6/MLL fusion protein|CXXC-type zinc finger protein 7|MLL-AF4 der(11) fusion protein|MLL/GAS7 fusion protein|MLL/GMPS fusion protein|histone-lysine N-methyltransferase 2A|lysine N-methyltransferase 2A|mixed lineage leukemia 1|myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)|trithorax-like protein|zinc finger protein HRX
|
| Swissprots |
E9PQG7 Q03164 Q13744 Q16364 Q13743 Q14845 Q6UBD1 Q9UD94 Q59FF2 Q9UMA3 Q9HBJ3
|
| Accessions |
AAA18644 AAC95283 AAC95284 AAQ63624 AAQ91347 CAA58584 CAA93625 CAB56460 CCO13771 EAW67380 EAW67381 EAW67382 EAW67383 EAW67384 Q03164 AB209508 BAD92745 AF024540 AAC51814 AF232000 AAG26334 AF232001 AAG26335 AF272370 AAG31978 AF272371 AAG31979 AF272372 AF272378 AAG31983 AF272379 AF272380 AAG31984 AF272381 AAG31985 AF272382 AAG31986 AF487906 AAM14566 AF512944 AAM82546 AK021845 AK295635 BAG58509 AK303179 BAG64274 AY187942 AAO38742 AY187943 AAO38743 AY187944 AAO38744 AY187945 AAO38745 BC015388 BC039603 BC065385 BC090876 D14540 BAA03407 DQ224341 ABB29493 FM165198 CAQ60122 JF938536 L01986 AAA92511 L04284 AAA58669 L04731 S66432 AAB28545 S78570 AAB34770 S78571 AAB34771 S82034 XM_006718839 XP_006718902 XM_011542829 XP_011541131 XM_011542830 XP_011541132 XM_011542831 XP_011541133 XM_011542832 XP_011541134 XM_011542833 XP_011541135 NM_001197104 NP_001184033 NM_005933 NP_005924 NM_024891
|
| Function |
Histone methyltransferase that plays an essential role in early development and hematopoiesis. Catalytic subunit of the MLL1/MLL complex, a multiprotein complex that mediates both methylation of 'Lys-4' of histone H3 (H3K4me) complex and acetylation of 'Lys-16' of histone H4 (H4K16ac). In the MLL1/MLL complex, it specifically mediates H3K4me, a specific tag for epigenetic transcriptional activation. Has weak methyltransferase activity by itself, and requires other component of the MLL1/MLL complex to obtain full methyltransferase activity. Has no activity toward histone H3 phosphorylated on 'Thr-3', less activity toward H3 dimethylated on 'Arg-8' or 'Lys-9', while it has higher activity toward H3 acetylated on 'Lys-9'. Required for transcriptional activation of HOXA9. Promotes PPP1R15A-induced apoptosis. Plays a critical role in the control of circadian gene expression and is essential for the transcriptional activation mediated by the CLOCK-ARNTL/BMAL1 heterodimer. Establishes a permi
|
| Subcellular Location |
MLL cleavage product C180: Nucleus. Note=Localizes to a diffuse nuclear pattern when not associated with MLL cleavage product N320.
|
| Tissue Specificity |
Heart, lung, brain and T- and B-lymphocytes.
|
| Top Pathways |
Lysine degradation, Transcriptional misregulation in cancer
|
