MLLT1 Super Elongation Complex Subunit
Transcriptional elongation regulator implicated in leukemia and developmental disorders
Gene Information Card
| Symbol | MLLT1 |
|---|---|
| Full Name | MLLT1, Super Elongation Complex Subunit |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 4298 ncbi.nlm.nih.gov/gene/4298 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | Q03111 |
| OMIM ID | 159555 |
| HGNC ID | 7132 |
| Aliases | ENL, LTG19, YEATS1 |
Description
MLLT1 (also known as ENL) encodes a nuclear protein that functions as a component of the super elongation complex (SEC), which facilitates transcriptional elongation by RNA polymerase II. The protein contains a YEATS domain that recognizes histone acetylation marks, and it is frequently fused to the MLL (KMT2A) gene in acute lymphoblastic and myeloid leukemias. MLLT1 plays a critical role in regulating gene expression programs involved in development and hematopoiesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute lymphoblastic leukemia (ALL) | MLLT1-MLL fusion drives aberrant transcriptional activation of HOX genes | PMID: 7592606 |
| Acute myeloid leukemia (AML) | MLLT1-MLL fusion disrupts normal hematopoietic differentiation | PMID: 7592606 |
| Wilms tumor | MLLT1 mutations identified in rare cases | PMID: 28553957 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Testis | 8.9 | Low |
| Brain | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 15.1 | High expression |
| HEK293 (embryonic kidney) | 9.8 | Moderate |
| HeLa (cervical) | 7.4 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | <0.1% | Potential loss of start codon |
| c.1234C>T (p.Arg412Trp) | Missense | <0.1% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; rare missense variants may reduce protein stability or YEATS domain function.
Gain of Function (GOF)
MLLT1-MLL fusions act as gain-of-function oncoproteins by constitutively recruiting SEC to MLL target genes.
Dominant Negative (DN)
Not reported for MLLT1.
View complete mutation data：
Gene Ontology (GO)
| • transcriptional elongation | • chromatin binding |
| • histone acetyllysine binding | • positive regulation of transcription by RNA polymerase II |
| • super elongation complex |
Pathways
• Super elongation complex (SEC)
• MLL fusion protein pathway in leukemia
• Transcriptional elongation by RNA polymerase II
Protein Summary
MLLT1 is a 559-amino acid nuclear protein containing an N-terminal YEATS domain that binds acetylated histones and a C-terminal domain that mediates interaction with the super elongation complex. It is ubiquitously expressed and essential for proper transcriptional elongation. Chromosomal translocations fusing MLLT1 to MLL (KMT2A) produce chimeric oncoproteins that drive leukemogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MLLT1 Knockout HEK293 Cell Line | EDJ-KQ2257 | Human | 4298 | Details Get a Quote |
| MLLT10 Knockout HEK293 Cell Line | EDJ-KQ5465 | Human | 8028 | Details Get a Quote |
| MLLT10 Knockout A-549 Cell Line | EDJ-KQ29976 | Human | 8028 | Details Get a Quote |
| MLLT10 Knockout HCT 116 Cell Line | EDJ-KQ29977 | Human | 8028 | Details Get a Quote |
| MLLT10 Knockout HeLa Cell Line | EDJ-KQ29978 | Human | 8028 | Details Get a Quote |
| MLLT1 Knockout HCT 116 Cell Line | EDJ-KQ21262 | Human | 4298 | Details Get a Quote |
| MLLT1 Knockout A-549 Cell Line | EDJ-KQ22577 | Human | 4298 | Details Get a Quote |
| MLLT1 Knockout HeLa Cell Line | EDJ-KQ22578 | Human | 4298 | Details Get a Quote |
| MLLT11 Knockout HEK293 Cell Line | EDJ-KQ51025 | Human | 10962 | Details Get a Quote |
| MLLT11 Knockout HeLa Cell Line | EDJ-KQ55535 | Human | 10962 | Details Get a Quote |
| MLLT11 Knockout A-549 Cell Line | EDJ-KQ64026 | Human | 10962 | Details Get a Quote |
| MLLT11 Knockout HCT 116 Cell Line | EDJ-KQ72476 | Human | 10962 | Details Get a Quote |
