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Arfgef1 Gene Detail
Summary
  • Symbol
    Arfgef1
  • Name
    ADP-ribosylation factor guanine nucleotide-exchange factor 1(brefeldin A-inhibited)
  • Synonyms
    ARFGEP1, BIG1, D130059B05Rik, D730028O18Rik, P200
  • Feature Type
    protein coding gene
  • IDs
    MGI:2442988
    NCBI Gene: 211673
  • Gene Overview
    MyGene.info: ARFGEF1
  • Alliance
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:10137571-10232670 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 2.36 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    586 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2442988
protein coding gene Chr1:10137507-10232670 (-)
129S1/SvImJ MGP_129S1SvImJ_G0015834
protein coding gene Chr1:7412237-7512074 (-)
A/J MGP_AJ_G0015816
protein coding gene Chr1:7462367-7557544 (-)
AKR/J MGP_AKRJ_G0015775
protein coding gene Chr1:7348160-7443021 (-)
BALB/cJ MGP_BALBcJ_G0015772
protein coding gene Chr1:7202556-7298494 (-)
C3H/HeJ MGP_C3HHeJ_G0015606
protein coding gene Chr1:7278346-7376086 (-)
C57BL/6NJ MGP_C57BL6NJ_G0016226
protein coding gene Chr1:7746251-7855590 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0013947
protein coding gene Chr1:6308439-6404747 (-)
CAST/EiJ MGP_CASTEiJ_G0015186
protein coding gene Chr1:7467353-7566712 (-)
CBA/J MGP_CBAJ_G0015579
protein coding gene Chr1:7927193-8037909 (-)
DBA/2J MGP_DBA2J_G0015678
protein coding gene Chr1:7077192-7172508 (-)
FVB/NJ MGP_FVBNJ_G0015683
protein coding gene Chr1:6993057-7092995 (-)
LP/J MGP_LPJ_G0015750
protein coding gene Chr1:7620786-7716172 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0015702
protein coding gene Chr1:8587233-8689646 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0016272
protein coding gene Chr1:7274775-7370670 (-)
PWK/PhJ MGP_PWKPhJ_G0014970
protein coding gene Chr1:6952413-7047019 (-)
SPRET/EiJ MGP_SPRETEiJ_G0014750
protein coding gene Chr1:7431999-7530377 (-)
WSB/EiJ MGP_WSBEiJ_G0015250
protein coding gene Chr1:7290182-7390010 (-)



Homology
more
  • Human Ortholog
    ARFGEF1, ADP ribosylation factor guanine nucleotide exchange factor 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ARFGEF1, ADP ribosylation factor guanine nucleotide exchange factor 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ARFGEP1, BIG1, P200
  • Links
    NCBI Gene ID: 10565
    neXtProt AC: NX_Q9Y6D6
    UniProt: Q9Y6D6

  • Chr Location
    8q13.2; chr8:67174298-67343927 (-)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    16 phenotypes from 1 allele in 1 genetic background
    6 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.
Mice homozygous for a null allele exhibit neonatal lethality, absent gastric milk and decreased brain size with increased neuron apoptosis, abnormal axon guidance and hypersensitivity to glutamate.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
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 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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000067851 Ensembl Gene Model | MGI Sequence Detail 95100 C57BL/6J ±  kb
    transcript ENSMUST00000088615 Ensembl | MGI Sequence Detail 6978 Not Applicable  
    polypeptide ENSMUSP00000085986 Ensembl | MGI Sequence Detail 1846 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 181
      Genomic 1
      cDNA 177
      Primer pair 3

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:2441988
    References
    more
    • Summaries
      All 31
      Developmental Gene Expression 3
      Gene Ontology 6
      Phenotypes 6
    • Earliest
      J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
    • Latest
      J:264414 Miyamoto Y, et al., BIG1/Arfgef1 and Arf1 regulate the initiation of myelination by Schwann cells in mice. Sci Adv. 2018 Apr;4(4):eaar4471

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory