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 cattle; 1 dog; 1 chicken; 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
Human Chr (Location)		7q11.21; chr7:66205643-66276451 (+)  GRCh37.p10

Alleles and phenotypes

All alleles(71) : Targeted(2) Gene trapped(69)
 

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

All GO classifications: (25 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 Type	Results
RNA in situ	31

cDNA source data(41)
External Resources: Allen Institute   GEO   ArrayExpress

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.101360905, DT.522488
NIA Mouse Gene Index	U006245
Consensus CDS Project	CCDS19708.1
International Mouse Knockout Project Status	Rabgef1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000027862	VEGA Gene Model | MGI Sequence Detail	42545	C57BL/6J
transcript	OTTMUST00000068977	VEGA | MGI Sequence Detail	2690	Not Applicable
polypeptide	OTTMUSP00000034984	VEGA | MGI Sequence Detail	491	Not Applicable

All sequences(47) RefSeq(4) UniProt(4)

Polymorphisms

SNPs(130 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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)