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Rabgef1 Gene Detail
Summary
  • Symbol
    Rabgef1
  • Name
    RAB guanine nucleotide exchange factor (GEF) 1
  • Synonyms
    Ras negative regulator Rabex-5
  • Feature Type
    protein coding gene
  • IDs
    MGI:1929459
    NCBI Gene: 56715
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:130200644-130243178 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 68.78 cM, cytoband F
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1172 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1929459
 protein coding gene Chr5:130200639-130243183 (+)
129S1/SvImJ MGP_129S1SvImJ_G0030142
 protein coding gene Chr5:134288215-134334491 (+)
A/J MGP_AJ_G0030110
 protein coding gene Chr5:128626842-128671171 (+)
AKR/J MGP_AKRJ_G0030043
 protein coding gene Chr5:132800751-132844926 (+)
BALB/cJ MGP_BALBcJ_G0030120
 protein coding gene Chr5:129979921-130028758 (+)
C3H/HeJ MGP_C3HHeJ_G0029836
 protein coding gene Chr5:133368609-133414579 (+)
C57BL/6NJ MGP_C57BL6NJ_G0030573
 protein coding gene Chr5:139432846-139482611 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0027798
 protein coding gene Chr5:123009124-123051055 (+)
CAST/EiJ MGP_CASTEiJ_G0029246
 protein coding gene Chr5:132687165-132734820 (+)
CBA/J MGP_CBAJ_G0029806
 protein coding gene Chr5:144864605-144915395 (+)
DBA/2J MGP_DBA2J_G0029957
 protein coding gene Chr5:128592355-128636400 (+)
FVB/NJ MGP_FVBNJ_G0029912
 protein coding gene Chr5:127684769-127728312 (+)
LP/J MGP_LPJ_G0030045
 protein coding gene Chr5:134797869-134852432 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0029944
 protein coding gene Chr5:148198716-148251890 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0030613
 protein coding gene Chr5:132498506-132546512 (+)
PWK/PhJ MGP_PWKPhJ_G0028960
 protein coding gene Chr5:127532622-127576592 (+)
SPRET/EiJ MGP_SPRETEiJ_G0028796
 protein coding gene Chr5:130076669-130122469 (+)
WSB/EiJ MGP_WSBEiJ_G0029319
 protein coding gene Chr5:133208669-133256667 (+)



Homology
more
  • Human Ortholog
    RABGEF1, RAB guanine nucleotide exchange factor 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    RABGEF1, RAB guanine nucleotide exchange factor 1
  • Synonyms
    rabex-5, RABEX5, RAP1
  • Links
    NCBI Gene ID: 27342
    neXtProt AC: NX_Q9UJ41
    UniProt: Q9UJ41

  • Chr Location
    7q11.21; chr7:66654567-66811464 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    14 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Nullizygous mutations can cause neonatal or postnatal lethality associated with severe skin inflammation, high mast cell numbers and serum levels of IgE and histamine, and enhanced mast cell degranulation and release of mediators and cytokines in response to high affinity IgE receptor aggregation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    51
  • GO References
    12
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless 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
    737
  • Tissues
    19
  • cDNA Data
    42
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 56715 NCBI Gene Model | MGI Sequence Detail 42535 C57BL/6J ±  kb
    transcript NM_001403282 RefSeq | MGI Sequence Detail 3099 C57BL/6  
    polypeptide Q9JM13 UniProt | EBI | MGI Sequence Detail 491 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 43
      cDNA 43

      Microarray probesets 4
    References
    more
    • Summaries
      All 54
      Developmental Gene Expression 4
      Gene Ontology 12
      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:326541 Cyagen Biosciences Inc., Cyagen Biosciences Website. 2022;
    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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    Send questions and comments to User Support.     		last database update
    12/17/2024
    MGI 6.24     		The Jackson Laboratory