About   Help   FAQ
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

HCOP human homology predictions: RABGEF1
Protein SuperFamily: Rab5 guanine nucleotide exchange factor
Gene Tree: Rabgef1

Human
homologs
RABGEF1, RAB guanine nucleotide exchange factor (GEF) 1
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 27342
neXtProt AC: NX_Q9UJ41

Human Synonyms: rabex-5, RABEX5, RAP1

Human Chr (Location): 7q11.21; chr7:66682091-66811464 (+)  GRCh38.p2

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: (30 annotations)
Process endocytosis, negative regulation of inflammatory response, ...
Component cytoplasm, early endosome, ...
Function DNA binding, metal ion binding, ...
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (31)    Tissues (19)    Images (9)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 31
cDNA source data(41)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase rabgef1 ; ZFIN rabgef1, rabgef1l    NEW 
Molecular
reagents
All nucleic(42) cDNA(42)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000027862 (Evidence)
Ensembl Gene Model ENSMUSG00000025340 (Evidence)
Entrez Gene 56715 (Evidence)
UniGene 288639
DFCI TC1578024
DoTS DT.522488, DT.101360905
NIA Mouse Gene Index U006245
Consensus CDS Project CCDS19708.1
International Mouse Phenotyping Consortium Status Rabgef1
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 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(36)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
05/20/2015
MGI 5.22
The Jackson Laboratory