Aff1 - AF4/FMR2 family, member 1 Gene

Also Known as Af4; Rob; Mllt2h; 9630032B01Rik

Species: Mus musculus

Gene Type: protein coding
Gene ID: 17355

Summary

This gene encodes a member of the AF4/ lymphoid nuclear protein related to the Fragile X E syndrome (FRAXE) family of proteins, which have been implicated in human childhood lymphoblastic leukemia, fragile chromosome X intellectual disability, 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 domain, and a C-terminal homology domain. Knockout of the mouse gene by homologous recombination severely affects early events in lymphopoiesis, including precursor proliferation or recruitment, but is dispensable for terminal differentiation. In addition, an autosomal dominant missense mutation results in several phenotypes including ataxia and adult-onset Purkinje cell loss in the cerebellum, indicating a role in Purkinje cell maintenance and function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]

Aff1 Products (3)

mRNA Protein Name
NM_001080798.3 NP_001074267.1 AF4/FMR2 family member 1 isoform 1
NM_001408251.1 NP_001395180.1 AF4/FMR2 family member 1 isoform 3
NM_133919.5 NP_598680.3 AF4/FMR2 family member 1 isoform 2

Gene Ontology

  • Biological Process
  • Cellular Component
Biological Process GO Annotation Evidence References Source
acts upstream of or within positive regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
9365243 MGI
Cellular Component GO Annotation Evidence References Source
located in nucleus IDA
IDA: Inferred from direct assay
9365243 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

AF4/FMR2 family member 1

  • homolog of human MLLT2 unidentified

  • myeloid/lymphoid or mixed-lineage leukemia translocated to 2 homolog

  • protein AF-4

  • proto-oncogene AF4

  • robotic

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS00428 AFF1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Aff1 NCBI NCBI:4299