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 |
|---|---|---|---|---|---|
| AF4/FMR2 family member 1 | MIM:159557 | Ensembl:ENSG00000172493 | HGNC:HGNC:7135 | PA30851 | 4q21.3-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 |
| MF | IBA | GO:0003700 | DNA-binding transcription factor activity |
| MF | TAS | GO:0003700 | DNA-binding transcription factor activity |
| MF | IPI | GO:0005515 | protein 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
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD679 | Bistramide A | 4 |
| iGMDRD71 | Sparfosic acid | 3 |
| iGMDRD781 | Sirolimus | 4 |
| iGMDRD494 | Neopeltolide | 2 |
| iGMDRD483 | SCH-529074 | 2 |
| iGMDRD126 | Tipifarnib | 2 |
| iGMDRD451 | Serdemetan | 2 |
| iGMDRD562 | Navitoclax | 4 |
| iGMDRD870 | BRD63610 | 1 |
| iGMDRD187 | BRD9876 | 3 |
| iGMDRD885 | Compound 110 | 2 |
| iGMDRD318 | PAC-1 | 2 |
| iGMDRD171 | Pemetrexed | 2 |
| iGMDRD474 | Avrainvillamide | 3 |
| iGMDRD945 | ML214 | 2 |
| iGMDRD123 | Isoevodiamine | 2 |
| iGMDRD177 | Teniposide | 3 |
| iGMDRD314 | Tanespimycin | 3 |
| iGMDRD532 | Olaparib | 2 |
| iGMDRD248 | BRD4354 | 2 |
| iGMDRD512 | nutlin 3 | 3 |
| iGMDRD82 | Quiflapon | 1 |
| iGMDRD246 | NPC26 | 2 |
| iGMDRD886 | Compound 1541A | 2 |
| iGMDRD300 | Tozasertib | 5 |
| iGMDRD329 | Merck60 | 3 |
| iGMDRD872 | BRD7137 | 5 |
| iGMDRD286 | Nsc 632839 | 3 |
| iGMDRD77 | Itraconazole | 2 |
| iGMDRD481 | Dactolisib | 2 |
| iGMDRD105 | Triptolide | 2 |
| iGMDRD202 | Curcumin | 3 |
| iGMDRD158 | NSC141540 | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in AFF1
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