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Rapgef1 Gene Detail
Summary
  • Symbol
    Rapgef1
  • Name
    Rap guanine nucleotide exchange factor (GEF) 1
  • Synonyms
    4932418O06Rik, C3G, Grf2
  • Feature Type
    protein coding gene
  • IDs
    MGI:104580
    NCBI Gene: 107746
  • Alliance
    gene page
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:29509732-29630376 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 20.32 cM, cytoband B
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2478 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104580
 protein coding gene Chr2:29509732-29630990 (+)
129S1/SvImJ MGP_129S1SvImJ_G0025540
 protein coding gene Chr2:27768249-27897250 (+)
A/J MGP_AJ_G0025517
 protein coding gene Chr2:26689036-26809893 (+)
AKR/J MGP_AKRJ_G0025487
 protein coding gene Chr2:27582101-27707983 (+)
BALB/cJ MGP_BALBcJ_G0025513
 protein coding gene Chr2:26820996-26941552 (+)
C3H/HeJ MGP_C3HHeJ_G0025274
 protein coding gene Chr2:27514897-27639970 (+)
C57BL/6NJ MGP_C57BL6NJ_G0025957
 protein coding gene Chr2:28660678-28799612 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0023367
 protein coding gene Chr2:25483148-25602703 (+)
CAST/EiJ MGP_CASTEiJ_G0024737
 protein coding gene Chr2:27410358-27532992 (+)
CBA/J MGP_CBAJ_G0025252
 protein coding gene Chr2:29655924-29787450 (+)
DBA/2J MGP_DBA2J_G0025385
 protein coding gene Chr2:26487492-26608721 (+)
FVB/NJ MGP_FVBNJ_G0025347
 protein coding gene Chr2:26286894-26411977 (+)
LP/J MGP_LPJ_G0025471
 protein coding gene Chr2:27694520-27826321 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0025378
 protein coding gene Chr2:29605441-29737334 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0026016
 protein coding gene Chr2:27498092-27631201 (+)
PWK/PhJ MGP_PWKPhJ_G0024484
 protein coding gene Chr2:26310512-26434295 (+)
SPRET/EiJ MGP_SPRETEiJ_G0024284
 protein coding gene Chr2:27595027-27715756 (+)
WSB/EiJ MGP_WSBEiJ_G0024806
 protein coding gene Chr2:27630017-27755230 (+)



Homology
more
  • Human Ortholog
    RAPGEF1, Rap guanine nucleotide exchange factor 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    RAPGEF1, Rap guanine nucleotide exchange factor 1
  • Synonyms
    C3G, GRF2
  • Links
    NCBI Gene ID: 2889
    neXtProt AC: NX_Q13905
    UniProt: Q13905

  • Chr Location
    9q34.13; chr9:131576770-131740076 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    13 phenotypes from 3 alleles in 4 genetic backgrounds
    18 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.
Mice homozygous for a null allele die before E7.5. Mice homozygous for a hypomorphic gene trap allele show embryonic lethality during organogenesis, altered neuroepithelium morphology, vascular maturation defects, hemorrhage, and reduced cell migration and adhesion.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    54
  • GO References
    13
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
    827
  • Tissues
    73
  • cDNA Data
    197
  • Literature Summary
    13
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 107746 NCBI Gene Model | MGI Sequence Detail 120645 C57BL/6J ±  kb
    transcript NM_001039086 RefSeq | MGI Sequence Detail 6233 ZRU/MplStud  
    polypeptide NP_001034176 RefSeq | MGI Sequence Detail 1224 C57BL/6  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      10 Sequences
    • Protein Ontology
      PR:000013726 Rap guanine nucleotide exchange factor 1
      (term hierarchy)
    • InterPro Domains
      IPR036964 Ras guanine-nucleotide exchange factor, catalytic domain superfamily
      IPR019804 Ras guanine-nucleotide exchange factor, conserved site
      IPR023578 Ras guanine nucleotide exchange factor domain superfamily
      IPR001895 Ras guanine-nucleotide exchange factors catalytic domain
      IPR008937 Ras-like guanine nucleotide exchange factor
      IPR000651 Ras-like guanine nucleotide exchange factor, N-terminal
    • GlyGen
      A0A5F8MPI9 4 sites, 4 N-linked glycans (4 sites)
    Molecular
    Reagents
    less
    • All nucleic 201
      cDNA 197
      Primer pair 3
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-26014, MGI:2444538
    References
    more
    • Summaries
      All 70
      Developmental Gene Expression 13
      Gene Ontology 13
      Phenotypes 18
    • Earliest
      J:26202 Schumacher C, et al., The SH3 domain of Crk binds specifically to a conserved proline-rich motif in Eps15 and Eps15R. J Biol Chem. 1995 Jun 23;270(25):15341-7
    • Latest
      J:354442 Verma A, et al., Development and tissue specific expression of RAPGEF1 (C3G) transcripts having exons encoding disordered segments with predicted regulatory function. Mol Biol Rep. 2024 Aug 14;51(1):907
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory