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ETO Protein definition: Encoded by human CBFA2T1 Gene, conserved 604-aa 67.6-kD ETO Protein is a putative MYND zinc finger transcription factor expressed as multiple isoforms in brain, heart, lung, pituitary, skeletal muscle, pancreas, placenta, testis, and ovary. MTG8B and MTG8C variants have distinct N-termini. One frameshifted MTG8 variant lacks C-terminal zinc fingers, a P/S/T-rich domain, and a coiled-coil structure. In AML-M2, t(8;21)(q22;q22) in stem cells produces a fused chimeric RUNX1-CBFA2T1 protein. Associated with NCOR/HDAC, this protein may repress transcription and differentiation in hematopoietic precursors. p14(ARF) may be a target of AML1-ETO. (from LocusLink, Swiss-Prot, OMIM, and NCI)
ETO Protein definition: ETO is a putative transcription factor containing one MYND-type zinc finger and most abundantly expressed in the brain. Two isoforms, MTG8A and MTG8B, are produced by alternative splicing. (from Swiss-Prot Q06455 and NCI)
RNA-Binding Protein FUS definition: A multifunctional heterogeneous-nuclear ribonucleoprotein that may play a role in homologous DNA pairing and recombination. The N-terminal portion of protein is a potent transcriptional activator, while the C terminus is required for RNA binding. The name FUS refers to the fact that genetic recombination events result in fusion oncogene proteins (ONCOGENE PROTEINS, FUSION) that contain the N-terminal region of this protein. These fusion proteins have been found in myxoid liposarcoma (LIPOSARCOMA, MYXOID) and acute myeloid leukemia.
AF-17 Protein definition: Encoded by human MLLT6 Gene, 1093-aa 112-kDa AF-17 Protein has high similarity to AF10 and contains amino acid stretches associated with transcriptional repression or activation: a 3-prime leucine-zipper dimerization motif and a terminal cysteine-rich domain of 3 zinc fingers (2 PHD-type) similar to a domain in Br140 protein. A common acute leukemia chromosomal translocation t(11;17)(q23;q21) involves fusion of MLL/HRX and MLLT6 that produces a rogue activator protein.
GFI1B Gene definition: This gene plays a role in transcriptional regulation and erythroid cell growth. Translocations in the gene are associated with chronic myeloid leukemia.
Growth Factor Independence-1B definition: Growth Factor Independence-1B, encoded by the human GFI1B gene, is a zinc finger protein. This protein is a transcription factor with specific involvement in the regulation of erythroid cell growth in normal erythropoiesis through modulating erythroid-specific gene expression. The function of GFI1B to modulate transcription depends on promoter context. Human GFI1B expression by Northern blot analysis is highest in bone marrow and fetal liver as well as in the chronic myeloid leukemia cell line K562 with lower levels in other hematopoietic precursor cells. Expression of GFI1B is highly restricted to hematopoietic stem cells, erythroblasts, and megakaryocytes. Its expression does not promote erythroid commitment, but enhances proliferation of immature erythroblasts. The chromosomal region of this gene is translocated to chromosome 22q11 in chronic myeloid leukemia. (From OMIM, PubMed 12351384 and NCI)
MLLT1 Gene definition: This gene is involved in transcriptional regulation and translocations in the gene are associated with acute leukemia.
MLLT3 Gene definition: This gene plays a role in transcriptional regulation and translocations in the gene are associated with leukemia.
MLLT4 Gene definition: This gene is involved in cell adhesion and cytoskeletal modeling.
MLLT6 Gene definition: This gene is involved in transcriptional regulation and aberrations in the gene are associated with acute leukemias due to chromosomal translocations.
FOXO4 Gene definition: This gene plays a role in smooth muscle cell differentiation, cellular growth, cell cycle regulation and tumor suppression.
RUNX1T1 Gene definition: This gene plays a role in transcriptional regulation and hematopoiesis.
MLLT3 wt Allele definition: Human MLLT3 wild-type allele is located in the vicinity of 9p22 and is approximately 281 kb in length. This allele, which encodes protein AF-9, plays a role in modulation of transcription by RNA polymerase II (Gene Ontology/GO). Acute nonlymphocytic leukemia is associated with the translocation t(9;11)(p22;q23) of this gene and the MLL gene.
FOXO4 wt Allele definition: Human FOXO4 wild-type allele is located in the vicinity of Xq13.1 and is approximately 7 kb in length. This allele, which encodes forkhead box protein O4, plays a role in the modulation of transcription by RNA polymerase II. Acute nonlymphocytic leukemias and T-cell acute lymphocytic leukemias are associated with translocations t(X;11)(q13;q23) of the gene to the MLL gene.
MLLT6 wt Allele definition: Human MLLT6 wild-type allele is located in the vicinity of 17q21 and is approximately 22 kb in length. This allele, which encodes protein AF-17, is involved in the modulation of transcription by RNA polymerase II. Acute nonlymphocytic leukemia is associated with the translocation t(11;17)(q23;q21) of the gene and the MLL gene.
MLLT1 wt Allele definition: Human MLLT1 wild-type allele is located in the vicinity of 19p13.3 and is approximately 70 kb in length. This allele, which encodes protein ENL, plays a role in the activation of transcription by RNA polymerase II. Mixed-lineage leukemias are associated with the translocation t(11;19)(q23;p13.3) of the gene with the MLL gene.
RUNX1T1 wt Allele definition: Human RUNX1T1 wild-type allele is located in the vicinity of 8q22 and is approximately 136 kb in length. This allele, which encodes protein CBFA2T1, may be involved in the regulation of transcription. Acute myeloid leukemia of the M2 subtype is associated with a translocation t(8;21)(q22;q22), which fuses this gene to the RUNX1 gene.
AFF1 wt Allele definition: Human AFF1 wild-type allele is located in the vicinity of 4q21 and is approximately 206 kb in length. This allele, which encodes AF4/FMR2 family member 1 protein, is involved in the modulation of transcription by RNA polymerase II. Several acute leukemias are associated with the translocation t(4;11)(q21;q23) of the gene and the MLL gene.
MLLT4 wt Allele definition: Human MLLT4 wild-type allele is located in the vicinity of 6q27 and is approximately 145 kb in length. This allele, which encodes afadin protein, is involved in the mediation of cell to cell adhesion. The gene can be involved in a translocation with the MML gene, t(6;11)(q27;q23), which is associated with some acute leukemias.
GFI1B wt Allele definition: Human GFI1B wild-type allele is located in the vicinity of 9q34.13 and is approximately 46 kb in length. This allele, which encodes growth factor independent protein 1B, may play a role in the modulation of transcription by RNA polymerase II.
AFF1 Gene definition: This gene is involved in transcriptional regulation and translocations in the gene are associated with acute leukemia.
Nuclear Receptor Subfamily 4, Group A, Member 3 definition: An orphan nuclear receptor that is closely related to members of the thyroid-steroid receptor family. It was originally identified in NERVE CELLS, however it may play regulatory roles in a variety of other tissues.