AFF1 gene

AF4/FMR2 family member 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of the AF4/ lymphoid nuclear protein related to AF4/Fragile X E mental retardation syndrome family of proteins, which have been implicated in childhood lymphoblastic leukemia, Fragile X E site mental retardation, and ataxia. It is the prevalent mixed-lineage leukemia fusion gene associated with spontaneous acute lymphoblastic leukemia. Members of this family have three conserved domains: an N-terminal homology domain, an AF4/ lymphoid nuclear protein related to AF4/Fragile X E mental retardation syndrome domain, and a C-terminal homology domain. The protein functions as a regulator of RNA polymerase II-mediated transcription through elongation and chromatin remodeling functions. Through RNA interference screens, this gene has been shown to promote the expression of CD133, a plasma membrane glycoprotein required for leukemia cell survival. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]

From UniProt:

A chromosomal aberration involving AFF1 is associated with acute leukemias. Translocation t(4;11)(q21;q23) with KMT2A/MLL1. The result is a rogue activator protein.

Cytogenetic Location: 4q21.3-q22.1, which is the long (q) arm of chromosome 4 between positions 21.3 and 22.1

Molecular Location: base pairs 86,935,002 to 87,141,054 on chromosome 4 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 4q21.3-q22.1, which is the long (q) arm of chromosome 4 between positions 21.3 and 22.1
  • AF4
  • MLLT2
  • PBM1