Protein ENL - CISMeF

Preferred Label : Protein ENL;

NCIt synonyms : YEATS Domain-Containing Protein 1; MLLT1; Trithorax Homolog 1; ENL Protein; ENL;

NCIt definition : Protein ENL (559 aa, 62 kDa) is encoded by the human MLLT1 gene. This protein is involved in transcription.;

NCIt note : ENL Protein is similar to MLLT3/AF9 (Human), TFG3/ANC1 (Yeast), and trithorax (Drosophila), contains nuclear targeting sequences, serine- and proline-rich regions, and stretches abundant in basic amino acids, and appears capable of transcriptional transactivation in lymphoid and myeloid cells. The C-terminal 90-aa of MLLT1 are required for activation of transcription. A common acute leukemia chromosomal translocation t(11;19)(q23;p13.3) involves MLL/HRX and MLLT1 that results in a rogue chimeric activator protein containing the MLL N-terminal AT-hook motifs.;

Details

Origin ID

C33943;

UMLS CUI

C1333335;

OMIM relation
- Mllt1 super elongation complex subunit [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- MLLT1 Gene [NCIt concept]
- Regulatory Gene [NCIt concept]
- Transcription Regulation Gene [NCIt concept]
gene_product_has_biochemical_function
- Chromatin Remodeling Factor [NCIt concept]
gene_product_has_structural_domain_or_motif
- YEATS Domain [NCIt concept]
gene_product_malfunction_associated_with_disease
- Acute Myeloid Leukemia with a Variant KMT2A Rearrangement [NCIt concept]
gene_product_plays_role_in_biological_process
- Chromatin Remodeling [NCIt concept]
- Transcriptional Regulation [NCIt concept]

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