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Aff1 Gene Detail
Summary
  • Symbol
    Aff1
  • Name
    AF4/FMR2 family, member 1
  • Synonyms
    9630032B01Rik, Af4, Mllt2h, Rob
  • Feature Type
    protein coding gene
  • IDs
    MGI:1100819
    NCBI Gene: 17355
  • Alliance
    gene page
  • Transcription Start Sites
    47 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:103840256-104003188 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 50.45 cM, cytoband E
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1065 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1100819
 protein coding gene Chr5:103840240-104003188 (+)
129S1/SvImJ MGP_129S1SvImJ_G0029803
 protein coding gene Chr5:105333561-105511467 (+)
A/J MGP_AJ_G0029767
 protein coding gene Chr5:101377051-101543472 (+)
AKR/J MGP_AKRJ_G0029715
 protein coding gene Chr5:104644447-104815030 (+)
BALB/cJ MGP_BALBcJ_G0029779
 protein coding gene Chr5:102438390-102608359 (+)
C3H/HeJ MGP_C3HHeJ_G0029502
 protein coding gene Chr5:105054483-105232192 (+)
C57BL/6NJ MGP_C57BL6NJ_G0030234
 protein coding gene Chr5:109628672-109812775 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0027469
 protein coding gene Chr5:96523019-96685957 (+)
CAST/EiJ MGP_CASTEiJ_G0028913
 protein coding gene Chr5:103756944-103936672 (+)
CBA/J MGP_CBAJ_G0029472
 protein coding gene Chr5:113454025-113644714 (+)
DBA/2J MGP_DBA2J_G0029616
 protein coding gene Chr5:101570316-101736553 (+)
FVB/NJ MGP_FVBNJ_G0029575
 protein coding gene Chr5:100369357-100537150 (+)
LP/J MGP_LPJ_G0029704
 protein coding gene Chr5:105905495-106080729 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0029604
 protein coding gene Chr5:118398501-118589824 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0030267
 protein coding gene Chr5:104182707-104357793 (+)
PWK/PhJ MGP_PWKPhJ_G0028631
 protein coding gene Chr5:100022266-100192394 (+)
SPRET/EiJ MGP_SPRETEiJ_G0028466
 protein coding gene Chr5:101835452-102020294 (+)
WSB/EiJ MGP_WSBEiJ_G0028991
 protein coding gene Chr5:104553792-104729331 (+)



Homology
more
  • Human Ortholog
    AFF1, ALF transcription elongation factor 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AFF1, ALF transcription elongation factor 1
  • Synonyms
    AF4, FEL, MLLT2, PBM1
  • Links
    NCBI Gene ID: 4299
    neXtProt AC: NX_P51825
    UniProt: P51825

  • Chr Location
    4q21.3-q22.1; chr4:86935002-87141054 (+)  GRCh38.p7
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    25 phenotypes from 2 alleles in 2 genetic backgrounds
    19 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygotes for a targeted null mutation exhibit impaired B and T cell development. Heterozygotes for an ENU-induced mutation exhibit small size, ataxia, adult-onset Purkinje cell loss, cataracts, reduced survival, and low fertility.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    7
  • GO References
    4
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    961
  • Tissues
    222
  • cDNA Data
    30
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 17355 NCBI Gene Model | MGI Sequence Detail 162933 C57BL/6J ±  kb
    transcript NM_001080798 RefSeq | MGI Sequence Detail 8412 C57BL/6  
    polypeptide O88573 UniProt | EBI | MGI Sequence Detail 1216 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 32
      cDNA 31
      Primer pair 1

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGI:1861996, MGI:2141185, MGI:2442389
    References
    more
    • Summaries
      All 55
      Developmental Gene Expression 5
      Gene Ontology 4
      Phenotypes 19
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:243270 Tamai H, et al., Amlexanox Downregulates S100A6 to Sensitize KMT2A/AFF1-Positive Acute Lymphoblastic Leukemia to TNFalpha Treatment. Cancer Res. 2017 Aug 15;77(16):4426-4433
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    01/17/2023
    MGI 6.22     		The Jackson Laboratory