AFF1
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. 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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:159557 Ensembl IDEnsembl:ENSG00000172493 HGNC IDHGNC:HGNC:7135 PHARMGKB IDPA30851 Map Location4q21.3-q22.1 | |||||
GO terms in AFF1
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IBA | GO:0005634 | nucleus |
| CC | IBA | GO:0008023 | transcription elongation factor complex |
| CC | IDA | GO:0008023 | transcription elongation factor complex |
| CC | IBA | GO:0032783 | ELL-EAF complex |
| BP | IEA | GO:0006355 | regulation of transcription, DNA-templated |
| MF | IBA | GO:0003690 | double-stranded DNA binding |
Gene expression in normal tissue: AFF1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in AFF1
Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa05202 | Transcriptional misregulation in cancer - Homo sapiens (human) |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in AFF1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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