| AFF3 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | AFF3 , LAF4, MLLT2-like, AF4/FMR2 family member 3, KINS | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 601464; MGI: 106927; HomoloGene: 1718; GeneCards: AFF3; OMA:AFF3 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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AF4/FMR2 family member 3 is a protein that in humans is encoded by the AFF3 gene. [5] [6] [7]
This gene encodes a tissue-restricted nuclear transcriptional activator that is preferentially expressed in lymphoid tissue. Isolation of this protein initially defined a highly conserved AF4/FMR2 family of nuclear transcription factors that may function in lymphoid development and oncogenesis. In some ALL patients, this gene has been found fused to the gene for MLL. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [7]
CCAAT/enhancer-binding protein alpha is a protein encoded by the CEBPA gene in humans. CCAAT/enhancer-binding protein alpha is a transcription factor involved in the differentiation of certain blood cells. For details on the CCAAT structural motif in gene enhancers and on CCAAT/Enhancer Binding Proteins see the specific page.
Histone-lysine N-methyltransferase 2A, also known as acute lymphoblastic leukemia 1 (ALL-1), myeloid/lymphoid or mixed-lineage leukemia1 (MLL1), or zinc finger protein HRX (HRX), is an enzyme that in humans is encoded by the KMT2A gene.
SCL-interrupting locus protein is a protein that in humans is encoded by the STIL gene. STIL is present in many different cell types and is essential for centriole biogenesis. This gene encodes a cytoplasmic protein implicated in regulation of the mitotic spindle checkpoint, a regulatory pathway that monitors chromosome segregation during cell division to ensure the proper distribution of chromosomes to daughter cells. The protein is phosphorylated in mitosis and in response to activation of the spindle checkpoint, and disappears when cells transition to G1 phase. It interacts with a mitotic regulator, and its expression is required to efficiently activate the spindle checkpoint.
AF4/FMR2 family member 1 is a protein that in humans is encoded by the AFF1 gene. At its same location was a record for a separate PBM1 gene, which has since been withdrawn and considered an alias. It was previously known as AF4.
Hepatic leukemia factor is a protein that in humans is encoded by the HLF gene.
Lipoma-preferred partner is a protein that in humans is encoded by the LPP gene.
Homeobox protein Hox-B3 is a protein that in humans is encoded by the HOXB3 gene.
Rhombotin-1 is a protein that in humans is encoded by the LMO1 gene.
Lysine N-methyltransferase 2C (KMT2C) also known as myeloid/lymphoid or mixed-lineage leukemia protein 3 (MLL3) is an enzyme that in humans is encoded by the KMT2C gene.
AF4/FMR2 family member 2 is a protein that in humans is encoded by the AFF2 gene. Mutations in AFF2 are implicated in cases of breast cancer.
T-cell leukemia homeobox protein 3 is a protein that in humans is encoded by the TLX3 gene.
Phosphatidylinositol binding clathrin assembly protein, also known as PICALM, is a protein which in humans is encoded by the PICALM gene.
Protein AF-9 is a protein that in humans is encoded by the MLLT3 gene.
Protein ENL is a protein that in humans is encoded by the MLLT1 gene.
Myeloid/lymphoid or mixed-lineage leukemia 4, also known as MLL4, is a human gene.
Protein BEX1 also known as brain-expressed X-linked protein 1 is a protein that in humans is encoded by the BEX1 gene.
T-cell acute lymphocytic leukemia 2, also known as TAL2, is a protein which in humans is encoded by the TAL2 gene.
X-linked intellectual disability refers to medical disorders associated with X-linked recessive inheritance that result in intellectual disability.
Tyrosine-protein kinase transmembrane receptor ROR1, also known as neurotrophic tyrosine kinase, receptor-related 1 (NTRKR1), is an enzyme that in humans is encoded by the ROR1 gene. ROR1 is a member of the receptor tyrosine kinase-like orphan receptor (ROR) family.
AF4/FMR2 (AFF) is a family of nuclear transcriptional activators that encourage RNA elongation. There are four genes in this family, all of which reside in the nucleus of the cells. The gene family includes AFF1/AF4, AFF2/FMR2, AFF3/LAF4 and AFF4/AF5q31. Within the family, the AFF2/FMR2 is silenced in FRAXE intellectual disability; while the other three gene families will form fusion genes as a consequence of chromosome translocations with the myeloid/lymphoid or mixed lineage leukemia gene in acute lymphoblastic leukemias. While different members of the AF4/FMR2 family are known for playing various roles in cells, they all commonly participate in the regulation of splicing and transcription.
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