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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]
AFF1 (AF4/FMR2 Family Member 1) is a Protein Coding gene. Diseases associated with AFF1 include Leukemia, Acute Lymphoblastic 3 and Acute Leukemia. Among its related pathways are Transcriptional misregulation in cancer. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity. An important paralog of this gene is AFF4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 21729782 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0008023 | transcription elongation factor complex | IDA | 22195968 |
GO:0032783 | ELL-EAF complex | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Transcriptional misregulation in cancer |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0010468 | regulation of gene expression | IEA,IBA | 21873635 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | AFF1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | AFF1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | AFF1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Aff1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Aff1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | AFF1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | AFF1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | AFF1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | AFF1 31 |
|
OneToOne | |
African clawed frog (Xenopus laevis) |
Amphibia | Xl.32672 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | CABZ01072037.1 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.1795 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | lilli 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.4989 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs113026065 | Likely Benign: not provided | 87,114,712(+) |
A/T NM_001166693.2(AFF1):c.1879A>T (p.Ser627Cys) |
MISSENSE | |
rs113502077 | Benign: not provided | 87,090,058(+) |
T/C NM_001166693.2(AFF1):c.1179T>C (p.Pro393=) |
SYNONYMOUS | |
rs1344808989 | Likely Benign: not provided | 87,115,041(+) |
G/A NM_001166693.2(AFF1):c.2208G>A (p.Val736=) |
SYNONYMOUS | |
rs143673312 | Likely Benign: not provided | 87,047,102(+) |
C/T NM_001166693.2(AFF1):c.567C>T (p.Asp189=) |
SYNONYMOUS_VARIANT,INTRON | |
rs145877283 | Likely Benign: not provided | 87,094,964(+) |
G/A NM_001166693.2(AFF1):c.1278G>A (p.Thr426=) |
SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2845n106 | CNV | deletion | 24896259 |
dgv2846n106 | CNV | deletion | 24896259 |
dgv5335n100 | CNV | gain | 25217958 |
esv1008659 | CNV | deletion | 20482838 |
esv1030392 | CNV | deletion | 17803354 |
esv2663810 | CNV | deletion | 23128226 |
esv2727935 | CNV | deletion | 23290073 |
esv3328451 | CNV | insertion | 20981092 |
esv3564196 | CNV | deletion | 23714750 |
nsv1013308 | CNV | gain | 25217958 |
nsv1136885 | CNV | deletion | 24896259 |
nsv291773 | CNV | deletion | 16902084 |
nsv472716 | CNV | novel sequence insertion | 20440878 |
nsv477979 | CNV | novel sequence insertion | 20440878 |
nsv507181 | OTHER | sequence alteration | 20534489 |
nsv508297 | CNV | deletion | 20534489 |
nsv594787 | CNV | gain | 21841781 |
nsv956402 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
leukemia, acute lymphoblastic 3 |
|
|
acute leukemia |
|
|
leukemia |
|
|
central nervous system leukemia |
|
|
amyotrophic lateral sclerosis, juvenile, with dementia |
|
|