Tbio AFF1 AF4/FMR2 family member 1

Protein Summary

Description

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. 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, Jul 2017]

Uniprot Accession IDs

• P51825
• B4DTU1
• E9PBM3

Gene Name

• AFF1

Ensembl ID

• ENST00000307808
• ENSP00000305689
• ENSG00000172493
• ENST00000395146
• ENSP00000378578

Symbol

• AF4
• FEL
• MLLT2
• PBM1
• AF4
• PBM1
• MLLT2

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
transcription factor binding site profile	0.96
transcription factor perturbation	0.8
microRNA	0.76
virus perturbation	0.72
drug perturbation	0.71

Protein Classes

PANTHER Classes

Protein / Transcription Factor / Af4/fmr2 Family Member 1

DTO Classes

Protein / Transcription Factor / Af4/fmr2 Family Member 1

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1491.7   (req: < 5)

Gene RIFs: 49   (req: <= 3)

Antibodies: 243   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1491.7   (req: >= 5)

Gene RIFs: 49   (req: > 3)

Antibodies: 243   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 2

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0