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Rabgef1
Gene Detail
 Symbol
Name
ID
Rabgef1
RAB guanine nucleotide exchange factor (GEF) 1
MGI:1929459
Synonyms Ras negative regulator Rabex-5
Feature Type protein coding gene
Genetic Map
Chromosome 5
68.78 cM, cytoband F
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr5:130171798-130214342 bp, + strand
From VEGA annotation of GRCm38

  42545 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:8720  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 zebrafish

Protein SuperFamily: Rab5 guanine nucleotide exchange factor
Gene Tree: Rabgef1

Human
homologs
Human Homolog RABGEF1, RAB guanine nucleotide exchange factor (GEF) 1
NCBI Gene ID 27342
neXtProt AC  NX_Q9UJ41
Human Synonyms  rabex-5, RABEX5, RAP1
Human Chr (Location)  7q11.21; chr7:66682091-66811464 (+)  GRCh38
Mutations,
alleles, and
phenotypes
All mutations/alleles(71) : Gene trapped(69) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Interactions
Rabgef1 interacts with 170 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (27 annotations)
Process endocytosis, negative regulation of inflammatory response, ...
Component cytoplasm, endosome, ...
Function DNA binding, metal ion binding, ...
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (31)    Tissues (18)    Images (9)
Theiler Stages: 23, 28
Assay TypeResults
RNA in situ 31
cDNA source data(41)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(42) cDNA(42)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000027862 (Evidence)
Ensembl Gene ModelENSMUSG00000025340 (Evidence)
Entrez Gene56715 (Evidence)
UniGene288639
DFCITC1578024
DoTSDT.101360905, DT.522488
NIA Mouse Gene IndexU006245
Consensus CDS ProjectCCDS19708.1
International Mouse Knockout Project StatusRabgef1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000027862 VEGA Gene Model | MGI Sequence Detail 42545 C57BL/6J ±  kb
transcript OTTMUST00000068977 VEGA | MGI Sequence Detail 2690 Not Applicable 
polypeptide OTTMUSP00000034984 VEGA | MGI Sequence Detail 491 Not Applicable 

For the selected sequences
All sequences(55) RefSeq(12) UniProt(4)
Polymorphisms SNPs within 2kb(156 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR003123 Vacuolar sorting protein 9
InterPro IPR013995 Vacuolar sorting protein 9, subgroup
InterPro IPR002653 Zinc finger, A20-type
Protein Ontology PR:000013652 rab5 GDP/GTP exchange factor
References (Earliest) J:172908 Traver S, et al., RGS14 is a novel Rap effector that preferentially regulates the GTPase activity of galphao. Biochem J. 2000 Aug 15;350 Pt 1:19-29
(Latest) J:166267 Tsai M, et al., Thymic stromal lymphopoietin contributes to myeloid hyperplasia and increased immunoglobulins, but not epidermal hyperplasia, in RabGEF1-deficient mice. Am J Pathol. 2010 Nov;177(5):2411-20
All references(38)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/23/2014
MGI 5.19
The Jackson Laboratory