Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: Aff1 (AF4/FMR2 family, member 1) Mus musculus
Analyze
Symbol: Aff1
Name: AF4/FMR2 family, member 1
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. 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 9630032B01Rik; Af4; AF4/FMR2 family member 1; AW319193; homolog of human MLLT2 unidentified; Mllt2h; myeloid/lymphoid or mixed-lineage leukemia translocated to 2 homolog; protein AF-4; proto-oncogene AF4; Rob; robotic
Orthologs:
Homo sapiens (human) : AFF1 (AF4/FMR2 family member 1)  HGNC  Alliance
Rattus norvegicus (Norway rat) : Aff1 (AF4/FMR2 family, member 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Aff1 (AF4/FMR2 family member 1)
Pan paniscus (bonobo/pygmy chimpanzee) : AFF1 (AF4/FMR2 family member 1)
Canis lupus familiaris (dog) : AFF1 (AF4/FMR2 family member 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Aff1 (AF4/FMR2 family member 1)
Sus scrofa (pig) : AFF1 (AF4/FMR2 family member 1)
more info ...
Latest Assembly: GRCm38 - Mouse Genome Assembly GRCm38
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm385103,692,362 - 103,855,322 (+)NCBIGRCm38GRCm38mm10GRCm38
MGSCv375104,183,181 - 104,284,341 (+)NCBIGRCm37mm9NCBIm37
MGSCv365104,023,426 - 104,091,425 (+)NCBImm8
Celera5101,059,857 - 101,161,382 (+)NCBICelera
Cytogenetic Map5 E5NCBI
cM Map550.45NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated
RGD Disease Portals

Genomics

Comparative Map Data
Position Markers
QTLs in Region (GRCm38)
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters

Additional Information

External Database Links
 
More on Aff1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: mm9 mm10
MGI Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1620896
Created: 2007-05-01
Species: Mus musculus
Last Modified: 2019-09-12
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.