MLLT10
MLLT10 histone lysine methyltransferase DOT1L cofactor
Gene Information Card
| Symbol | MLLT10 |
|---|---|
| Full Name | MLLT10, histone lysine methyltransferase DOT1L cofactor |
| Gene Type | protein-coding |
| Chromosomal Location | 10p12.31 |
| NCBI Gene ID | 8028 ncbi.nlm.nih.gov/gene/8028 |
| Ensembl ID | ENSG00000165630 |
| UniProt ID | P55197 |
| OMIM ID | 602409 |
| HGNC ID | 16063 |
| Aliases | AF10, MLLT10, FLJ10233 |
Description
MLLT10 (also known as AF10) encodes a protein that functions as a cofactor for DOT1L, a histone methyltransferase that methylates histone H3 lysine 79. The protein contains a PHD finger and a leucine zipper domain, and is involved in transcriptional regulation, chromatin remodeling, and hematopoietic development. Chromosomal rearrangements involving MLLT10 are recurrent in acute leukemias, leading to fusion proteins that aberrantly recruit DOT1L and drive leukemogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia (AML) | MLLT10 fusions (e.g., MLLT10-KMT2A, PICALM-MLLT10) recruit DOT1L, causing H3K79 hypermethylation and aberrant gene expression. | Recurrent in t(10;11)(p12;q23) and t(10;11)(p13;q14) AML; COSMIC, ClinVar |
| Acute lymphoblastic leukemia (ALL) | MLLT10 rearrangements (e.g., MLLT10-KMT2A) drive leukemogenesis via DOT1L recruitment. | Observed in infant and adult ALL; OMIM, PubMed |
| Mixed phenotype acute leukemia (MPAL) | MLLT10 fusions contribute to lineage ambiguity through DOT1L-mediated epigenetic changes. | Case reports; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 10.2 | Medium |
| Lymph node | 8.5 | Medium |
| Spleen | 7.1 | Medium |
| Thymus | 6.8 | Low |
| Testis | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 12.4 | High expression |
| HEK293 (embryonic kidney) | 9.1 | Moderate expression |
| HeLa (cervical cancer) | 7.8 | Moderate expression |
| Jurkat (T-cell leukemia) | 11.0 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| MLLT10-KMT2A fusion | Chromosomal translocation | Recurrent in AML/ALL | Creates oncogenic fusion protein that recruits DOT1L |
| PICALM-MLLT10 fusion | Chromosomal translocation | Recurrent in AML | DOT1L recruitment and H3K79 hypermethylation |
| Missense variants (e.g., p.Arg123Trp) | Point mutation | Rare | Unknown functional impact; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; loss of MLLT10 may impair DOT1L recruitment and hematopoiesis.
Gain of Function (GOF)
Fusion proteins (e.g., MLLT10-KMT2A) gain ability to recruit DOT1L, leading to aberrant H3K79 methylation and oncogene activation.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • transcription coactivator activity | • chromatin binding |
| • protein homodimerization activity | • nucleus |
| • regulation of transcription by RNA polymerase II |
Pathways
• DOT1L-mediated H3K79 methylation
• Transcriptional regulation by MLL fusion proteins
• Leukemogenesis
Protein Summary
The MLLT10 protein (AF10) is a 1027-amino acid nuclear protein containing an N-terminal PHD finger, a leucine zipper domain, and a C-terminal region that interacts with DOT1L. It acts as a cofactor for DOT1L-mediated H3K79 methylation, a histone mark associated with active transcription. MLLT10 is widely expressed in hematopoietic tissues and is frequently rearranged in acute leukemias, where fusion proteins aberrantly recruit DOT1L to drive oncogenic gene expression programs.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| 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 |
