KMT2A - lysine methyltransferase 2A Gene
Also Known as HRX; MLL; ALL1; GAS7; HTRX; MLL1; TRX1; ALL-1; CXXC7; HTRX1; MLL1A; WDSTS
生物種: Homo sapiens
About KMT2A
This gene has 33 transcripts (splice variants), 202 orthologues, 19 paralogues and is associated with 168 phenotypes. Ubiquitous expression in ovary (RPKM 12.8), lymph node (RPKM 6.8) and 25 other tissues.
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]
KMT2A Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001197104.2 | NP_001184033.1 | histone-lysine N-methyltransferase 2A isoform 1 |
| NM_001412597.1 | NP_001399526.1 | histone-lysine N-methyltransferase 2A isoform 3 |
| NM_005933.4 | NP_005924.2 | histone-lysine N-methyltransferase 2A isoform 2 precursor |
| Biological Process GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| involved in T-helper 2 cell differentiation |
IDA
IDA: Inferred from direct assay
|
20484083 | GOA |
| involved in negative regulation of DNA methylation-dependent heterochromatin formation |
IMP
IMP: Inferred from mutant phenotype
|
20010842 | GOA |
| involved in positive regulation of DNA-templated transcription |
IMP
IMP: Inferred from mutant phenotype
|
15960975 | GOA |
| involved in positive regulation of transcription by RNA polymerase II |
IDA
IDA: Inferred from direct assay
|
20861184 | GOA |
| involved in protein-containing complex assembly |
IDA
IDA: Inferred from direct assay
|
15199122 | GOA |
| involved in transcription initiation-coupled chromatin remodeling |
IDA
IDA: Inferred from direct assay
|
19556245 | GOA |
| involved in transcription initiation-coupled chromatin remodeling |
IMP
IMP: Inferred from mutant phenotype
|
15960975 | GOA |
| Cellular Component GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| part of MLL1 complex |
IDA
IDA: Inferred from direct assay
|
15960975 | GOA |
| part of MLL1 complex |
IPI
IPI: Inferred from physical interaction
|
23508102 | GOA |
| part of histone methyltransferase complex |
IDA
IDA: Inferred from direct assay
|
19556245 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
11313484 | GOA |
KMT2A Protein Structure
zf-CXXC: CXXC zinc finger domain (1148 - 1194)
PHD: PHD-finger (1481 - 1532)
PHD: PHD-finger (1568 - 1629)
zf-HC5HC2H: PHD-like zinc-binding domain (1903 - 1981)
FYRN: F/Y-rich N-terminus (2026 - 2075)
FYRC: F/Y rich C-terminus (3670 - 3752)
SET: SET domain (3843 - 3947)
- 0
- 700
- 1400
- 2100
- 2800
- 3500
- 3972 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
histone-lysine N-methyltransferase 2A |
|
KMT2A Protein-protein interaction Information
|
Type
|
タンパク質名 | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | 参考文献 |
|---|---|---|---|---|---|---|---|
|
Intra
|
KMT2A | Q03164 | CTR9 | Homo sapiens | Q6PD62 | 20541477 | |
|
Intra
|
KMT2A | Q03164 | CTR9 | Homo sapiens | Q6PD62 | 20541477 | |
|
Intra
|
KMT2A | Q03164 | SKP2 | Homo sapiens | Q13309-1 | 20818375 | |
|
Intra
|
KMT2A | Q03164 | SKP2 | Homo sapiens | Q13309-1 | 20818375 | |
|
Intra
|
KMT2A | Q03164 | ASH2L | Homo sapiens | Q9UBL3-3 | 26886794 | |
|
Intra
|
KMT2A | Q03164 | ASH2L | Homo sapiens | Q9UBL3-3 | 26886794 | |
|
Intra
|
KMT2A | Q03164 | SIRT1 | Homo sapiens | Q96EB6 | 25751424 | |
|
Intra
|
KMT2A | Q03164 | SIRT1 | Homo sapiens | Q96EB6 | 25751424 | |
|
Intra
|
KMT2A | Q03164 | PAF1 | Homo sapiens | Q8N7H5 | 20541477 | |
|
Cross
|
KMT2A | Q03164 | Crebbp | Mus musculus | P45481 | 20969867 | |
|
Intra
|
KMT2A | Q03164 | WDR5 | Homo sapiens | P61964 | 23870121 | |
|
Intra
|
KMT2A | Q03164 | WDR5 | Homo sapiens | P61964 | 19556245 | |
|
Intra
|
KMT2A | Q03164 | WDR5 | Homo sapiens | P61964 | 18840606 | |
|
Intra
|
KMT2A | Q03164 | WDR5 | Homo sapiens | P61964 | 19556245 | |
|
Intra
|
KMT2A | Q03164 | WDR5 | Homo sapiens | P61964 | 18840606 | |
|
Intra
|
KMT2A | Q03164 | WDR5 | Homo sapiens | P61964 | 21220120 | |
|
Intra
|
KMT2A | Q03164 | WDR5 | Homo sapiens | P61964 | 20818375 | |
|
Intra
|
KMT2A | Q03164 | RBBP5 | Homo sapiens | Q15291 | 15199122 | |
|
Intra
|
KMT2A | Q03164 | RBBP5 | Homo sapiens | Q15291 | 19556245 | |
|
Intra
|
KMT2A | Q03164 | RBBP5 | Homo sapiens | Q15291 | 19556245 | |
|
Intra
|
KMT2A | Q03164 | RBBP5 | Homo sapiens | Q15291 | 23870121 | |
|
Intra
|
KMT2A | Q03164 | RBBP5 | Homo sapiens | Q15291 | 26886794 | |
|
Intra
|
KMT2A | Q03164 | RBBP5 | Homo sapiens | Q15291 | 21220120 | |
|
Intra
|
KMT2A | Q03164 | RBBP5 | Homo sapiens | Q15291 | 26886794 | |
|
Intra
|
KMT2A | Q03164 | PPIE | Homo sapiens | Q9UNP9 | 20541251 | |
|
Intra
|
KMT2A | Q03164 | PPIE | Homo sapiens | Q9UNP9 | 11313484 | |
|
Intra
|
KMT2A | Q03164 | PPIE | Homo sapiens | Q9UNP9 | 11313484 | |
|
Cross
|
KMT2A | Q03164 | Bmal1 | Mus musculus | Q9WTL8 | 21113167 | |
|
Intra
|
KMT2A | Q03164 | H3C1 | Homo sapiens | P68431 | 20541251 | |
|
Intra
|
KMT2A | Q03164 | H3C1 | Homo sapiens | P68431 | 20541251 | |
|
Cross
|
KMT2A | Q03164 | Clock | Mus musculus | O08785 | 21113167 | |
|
Intra
|
KMT2A | Q03164 | KAT8 | Homo sapiens | Q9H7Z6 | 15960975 | |
|
Intra
|
KMT2A | Q03164 | CDC73 | Homo sapiens | Q6P1J9 | 20541477 | |
|
Intra
|
KMT2A | Q03164 | CDC73 | Homo sapiens | Q6P1J9 | 20541477 | |
|
Intra
|
KMT2A | Q03164 | MEN1 | Homo sapiens | O00255-2 | 22327296 | |
|
Intra
|
KMT2A | Q03164 | MEN1 | Homo sapiens | O00255-2 | 22327296 |
KMT2A 抗体
| 製品番号 | 製品名 | アプリケーション | 反応性 |
|---|---|---|---|
| HY-P84475 | KMT2A Antibody (YA4172) | IHC-P, ICC/IF, FC, ELISA | Human |
| HY-P84475A | KMT2A Antibody (YA4172)(PBS only) | IHC-P, ICC/IF, FC, ELISA | Human |
| HY-P85279 | KMT2A Antibody (YA4971) | IHC-P, ELISA | Human |
| HY-P85279A | KMT2A Antibody (YA4971)(PBS only) | IHC-P, ELISA | Human |
関連疾患
| Diseases | Alias | |
|---|---|---|
| Wiedemann-Steiner Syndrome |
|
|
| Acute Myeloid Leukemia With T(9;11)(P22;Q23) |
|
|
| Acute Megakaryocytic Leukemia |
|
|
| Mixed Phenotype Acute Leukemia With T |
|
|
| Mixed Phenotype Acute Leukemia With T(9;22)(Q34.1;Q11.2) |
|
|
| Rare Genetic Intellectual Disability |
|
|
| Kabuki Syndrome 1 |
|
|
| Acute Megakaryoblastic Leukemia Without Down Syndrome |
|
|
| Acute Biphenotypic Leukemia |
|
|
| Cornelia De Lange Syndrome 1 |
|
|
| Cornelia De Lange Syndrome |
|
|
| Microcephaly |
|
|
| Autism |
|
|
| B-Lymphoblastic Leukemia/Lymphoma With Recurrent Genetic Abnormality |
|
|
| Acute Leukemia |
|
|
| Acute Myeloid Leukemia With Mll Rearrangement |
|
|
| Chronic Neutrophilic Leukemia |
|
|
| Rubinstein Taybi Like Syndrome |
|
|
| Hairy Elbows |
|
|
| B-Lymphoblastic Leukemia/Lymphoma |
|
|
| Leukemia, Acute Monocytic |
|
|
| Hypertrichosis |
|
|
| Leukemia |
|
|
| Acute Myelomonocytic Leukemia |
|
|
| Chronic Fungal Otitis Externa |
|
|
| Chromosomal Triplication |
|
|
| Childhood Acute Lymphocytic Leukemia |
|
|
| Myeloid Sarcoma |
|
|
| Hematologic Cancer |
|
|
| Myeloid Leukemia |
|
|
| Myelodysplastic Syndrome |
|
|
| Childhood Leukemia |
|
|
| Neonatal Leukemia |
|
|
| Leukemia, Acute Lymphoblastic |
|
|
| Testicular Leukemia |
|
|
| Monocytic Leukemia |
|
|
| Childhood Acute Myeloid Leukemia |
|
|
| Lymphoblastic Lymphoma |
|
|
| Familial Isolated Trichomegaly |
|
|
| Central Nervous System Leukemia |
|
|
| B-Lymphoblastic Leukemia/Lymphoma With Bcr-Abl1 |
|
|
| Intellectual Developmental Disorder, Autosomal Dominant 10 |
|
|
| Leukemia, Acute Myeloid |
|
|
| Mixed Phenotype Acute Leukemia, T/Myeloid |
|
|
| Bladder Urothelial Carcinoma |
|
|
| Pancytopenia |
|
|
| Childhood Acute Megakaryoblastic Leukemia |
|
|
| Precursor T-Cell Acute Lymphoblastic Leukemia |
|
|
| Syndromic X-Linked Intellectual Disability Nascimento Type |
|
|
| Mixed Phenotype Acute Leukemia, B/Myeloid |
|
|
| Non-Syndromic X-Linked Intellectual Disability 93 |
|
|
| Kbg Syndrome |
|
|
| Down Syndrome |
|
|
| Adult Acute Lymphocytic Leukemia |
|
|
| Myeloproliferative Neoplasm |
|
|
| Kleefstra Syndrome |
|
|
| Acute Promyelocytic Leukemia |
|
|
| Myeloproliferative Syndrome, Transient |
|
|
| Leukemia, Chronic Myeloid |
|
|
| Lymphoma, Non-Hodgkin, Familial |
|
|
| Chromosome 16p13.3 Deletion Syndrome, Proximal |
|
|
| Colon Leiomyoma |
|
|
| Juvenile Myelomonocytic Leukemia |
|
|
| Leukemia, Chronic Lymphocytic |
|
|
| Syndromic Intellectual Disability |
|
Orthologs Information
| 生物種 | Symbol | 由来 | ID |
|---|---|---|---|
| Bos taurus | KMT2A | VGNC | VGNC:30690 |
| Macaca mulatta | KMT2A | VGNC | VGNC:101297 |
| Canis familiaris | KMT2A | VGNC | VGNC:42489 |
| Rattus norvegicus | KMT2A | RGD | RGD:1586165 |
| Mus musculus | KMT2A | MGD | MGI:96995 |
| Others | KMT2A | NCBI |