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Aliases for RABGEF1 Gene

Aliases for RABGEF1 Gene

  • RAB Guanine Nucleotide Exchange Factor 1 2 3 5
  • Rabaptin-5-Associated Exchange Factor For Rab5 3 4
  • RAB Guanine Nucleotide Exchange Factor (GEF) 1 2 3
  • Rabex-5 3 4
  • RABEX5 3 4
  • RAP1 3 4
  • Rab5 GDP/GTP Exchange Factor 3

External Ids for RABGEF1 Gene

Previous GeneCards Identifiers for RABGEF1 Gene

  • GC07P065544
  • GC07P065617
  • GC07P065649
  • GC07P065732
  • GC07P065843
  • GC07P066094
  • GC07P066205
  • GC07P062390
  • GC07P066148

Summaries for RABGEF1 Gene

Entrez Gene Summary for RABGEF1 Gene

  • RABGEF1 forms a complex with rabaptin-5 (RABPT5; MIM 603616) that is required for endocytic membrane fusion, and it serves as a specific guanine nucleotide exchange factor (GEF) for RAB5 (RAB5A; MIM 179512) (Horiuchi et al., 1997 [PubMed 9323142]).[supplied by OMIM, Mar 2010]

GeneCards Summary for RABGEF1 Gene

RABGEF1 (RAB Guanine Nucleotide Exchange Factor 1) is a Protein Coding gene. Among its related pathways are RAB GEFs exchange GTP for GDP on RABs and Delta508-CFTR traffic / Sorting endosome formation in CF. Gene Ontology (GO) annotations related to this gene include ubiquitin-protein transferase activity and Rab guanyl-nucleotide exchange factor activity. An important paralog of this gene is GAPVD1.

UniProtKB/Swiss-Prot for RABGEF1 Gene

  • Rab effector protein acting as linker between gamma-adaptin, RAB4A or RAB5A. Involved in endocytic membrane fusion and membrane trafficking of recycling endosomes. Stimulates nucleotide exchange on RAB5A. Can act as a ubiquitin ligase (By similarity).

Gene Wiki entry for RABGEF1 Gene

Additional gene information for RABGEF1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RABGEF1 Gene

Genomics for RABGEF1 Gene

GeneHancer (GH) Regulatory Elements for RABGEF1 Gene

Promoters and enhancers for RABGEF1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J066653 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 678.7 -27.1 -27136 3.8 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B LOC100996437 RABGEF1 VKORC1L1 GS1-124K5.4 CRCP ENSG00000229180 KCTD7 TYW1 ENSG00000244657 LOC100420547
GH07J066739 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 682 +59.3 59261 4.2 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 RABGEF1 ENSG00000272831 GC07P066740 LOC100996437 LOC100420547 ENSG00000229180 ENSG00000244657 CCT6P1 GUSB ENSG00000230189
GH07J066680 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 665.2 +0.7 697 3.7 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 POLR2B RABGEF1 GC07M066672 LOC100996437 ENSG00000229180 VKORC1L1 LOC100420547 ENSG00000244657 SPDYE21P CCT6P1 GUSB
GH07J066799 Promoter 0.5 EPDnew 650.1 +117.3 117306 0.1 RABGEF1 LOC100420954 GC07P066812 PIR56819 ENSG00000284461
GH07J066805 Promoter 0.5 EPDnew 650.1 +123.3 123288 0.1 RABGEF1 GC07P066812 PIR56819 LOC100420954 ENSG00000284461
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RABGEF1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RABGEF1 gene promoter:
  • MyoD
  • TGIF
  • HEN1
  • HSF1short
  • HSF1 (long)
  • C/EBPalpha
  • MIF-1
  • CUTL1
  • ER-alpha
  • HFH-1

Genomic Locations for RABGEF1 Gene

Genomic Locations for RABGEF1 Gene
129,374 bases
Plus strand
129,301 bases
Plus strand

Genomic View for RABGEF1 Gene

Genes around RABGEF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RABGEF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RABGEF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RABGEF1 Gene

Proteins for RABGEF1 Gene

  • Protein details for RABGEF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Rab5 GDP/GTP exchange factor
    Protein Accession:
    Secondary Accessions:
    • B4DZM7
    • Q3HKR2
    • Q3HKR3
    • Q53FG0

    Protein attributes for RABGEF1 Gene

    708 amino acids
    Molecular mass:
    79371 Da
    Quaternary structure:
    • Interacts with RGS14; the interaction is GTP-dependent (By similarity). Heterodimer with RABEP1. The heterodimer binds RAB4A and RAB5A that have been activated by GTP-binding. Interacts with RAB21, and with 100-fold lower affinity also with RAB22. Binds TSC2, GGA1, GGA2, GGA3, AP1G1 and AP1G2. Interacts with ubiquitinated EGFR.

    Three dimensional structures from OCA and Proteopedia for RABGEF1 Gene

    Alternative splice isoforms for RABGEF1 Gene


neXtProt entry for RABGEF1 Gene

Post-translational modifications for RABGEF1 Gene

  • Monoubiquitinated.
  • Ubiquitination at Lys629, Lys520, posLast=423423, Lys348, posLast=329329, posLast=325325, posLast=318318, Lys299, Lys281, and Lys263
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RABGEF1 Gene

Domains & Families for RABGEF1 Gene

Gene Families for RABGEF1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RABGEF1 Gene


Suggested Antigen Peptide Sequences for RABGEF1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with RABGEF1: view

No data available for UniProtKB/Swiss-Prot for RABGEF1 Gene

Function for RABGEF1 Gene

Molecular function for RABGEF1 Gene

UniProtKB/Swiss-Prot Function:
Rab effector protein acting as linker between gamma-adaptin, RAB4A or RAB5A. Involved in endocytic membrane fusion and membrane trafficking of recycling endosomes. Stimulates nucleotide exchange on RAB5A. Can act as a ubiquitin ligase (By similarity).

Phenotypes From GWAS Catalog for RABGEF1 Gene

Gene Ontology (GO) - Molecular Function for RABGEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 15324660
GO:0008270 zinc ion binding IEA --
GO:0017112 Rab guanyl-nucleotide exchange factor activity TAS --
GO:0017137 Rab GTPase binding IPI 23382462
genes like me logo Genes that share ontologies with RABGEF1: view
genes like me logo Genes that share phenotypes with RABGEF1: view

Animal Models for RABGEF1 Gene

MGI Knock Outs for RABGEF1:

Animal Model Products

miRNA for RABGEF1 Gene

miRTarBase miRNAs that target RABGEF1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RABGEF1 Gene

Localization for RABGEF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RABGEF1 Gene

Cytoplasm. Early endosome. Recycling endosome.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RABGEF1 gene
Compartment Confidence
cytosol 5
endosome 5
nucleus 4
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RABGEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IEA --
GO:0005769 early endosome IMP 23382462
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with RABGEF1: view

Pathways & Interactions for RABGEF1 Gene

genes like me logo Genes that share pathways with RABGEF1: view

Pathways by source for RABGEF1 Gene

SIGNOR curated interactions for RABGEF1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for RABGEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006612 protein targeting to membrane IMP 23382462
GO:0006897 endocytosis IEA --
GO:0015031 protein transport IEA --
GO:0065009 regulation of molecular function IEA --
genes like me logo Genes that share ontologies with RABGEF1: view

Drugs & Compounds for RABGEF1 Gene

(1) Drugs for RABGEF1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0

(2) Additional Compounds for RABGEF1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RABGEF1: view

Transcripts for RABGEF1 Gene

mRNA/cDNA for RABGEF1 Gene

Unigene Clusters for RABGEF1 Gene

RAB guanine nucleotide exchange factor (GEF) 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RABGEF1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d · 6e ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b · 10c ^ 11 ^ 12a ·
SP1: - - - - - -
SP2: - - - - - - - - -
SP4: - - - - - - - - -
SP5: - - - - - - -
SP6: - - - - - -
SP7: - - -
SP8: - - -
SP9: - - - - -
SP10: - - -
SP11: - - - - -
SP13: -

ExUns: 12b ^ 13 ^ 14 ^ 15a · 15b · 15c
SP1: -
SP2: -
SP3: -
SP5: -

Relevant External Links for RABGEF1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for RABGEF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RABGEF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RABGEF1 Gene

This gene is overexpressed in Whole Blood (x4.7).

Protein differential expression in normal tissues from HIPED for RABGEF1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (18.2) and Fetal Brain (13.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RABGEF1 Gene

Protein tissue co-expression partners for RABGEF1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RABGEF1 Gene:


SOURCE GeneReport for Unigene cluster for RABGEF1 Gene:


Evidence on tissue expression from TISSUES for RABGEF1 Gene

  • Nervous system(4.1)
  • Blood(4)
  • Liver(4)
genes like me logo Genes that share expression patterns with RABGEF1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RABGEF1 Gene

Orthologs for RABGEF1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RABGEF1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia RABGEF1 34 33
  • 99.47 (n)
(Bos Taurus)
Mammalia RABGEF1 34 33
  • 92.74 (n)
(Canis familiaris)
Mammalia RABGEF1 33
  • 92.58 (n)
-- 34
  • 63 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 92 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 89 (a)
(Mus musculus)
Mammalia Rabgef1 16 34 33
  • 88.53 (n)
(Rattus norvegicus)
Mammalia Rabgef1 33
  • 87.37 (n)
(Gallus gallus)
Aves -- 34
  • 89 (a)
(Danio rerio)
Actinopterygii rabgef1 34 33
  • 70.97 (n)
rabgef1l 34
  • 53 (a)
zgc65944 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005551 33
  • 48.7 (n)
fruit fly
(Drosophila melanogaster)
Insecta Rabex-5 34 33
  • 48.37 (n)
(Caenorhabditis elegans)
Secernentea rabx-5 34 33
  • 48.83 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS9 36 34
  • 19 (a)
(Oryza sativa)
Liliopsida Os03g0842700 33
  • 50.21 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1840 34
  • 34 (a)
Species where no ortholog for RABGEF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for RABGEF1 Gene

Gene Tree for RABGEF1 (if available)
Gene Tree for RABGEF1 (if available)
Evolutionary constrained regions (ECRs) for RABGEF1: view image

Paralogs for RABGEF1 Gene

Paralogs for RABGEF1 Gene

(7) SIMAP similar genes for RABGEF1 Gene using alignment to 5 proteins:

  • V9GYI8_HUMAN Pseudogenes for RABGEF1 Gene

genes like me logo Genes that share paralogs with RABGEF1: view

Variants for RABGEF1 Gene

Sequence variations from dbSNP and Humsavar for RABGEF1 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000009842 -- 66,683,246(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000023059 -- 66,757,688(+) T/C genic_downstream_transcript_variant, intron_variant
rs1000026947 -- 66,797,719(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000053777 -- 66,766,278(+) T/C genic_downstream_transcript_variant, intron_variant
rs1000059652 -- 66,798,110(+) C/G genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RABGEF1 Gene

Variant ID Type Subtype PubMed ID
esv2668786 CNV deletion 23128226
esv2671700 CNV deletion 23128226
esv3541805 CNV deletion 23714750
esv3541806 CNV deletion 23714750
esv3571891 CNV loss 25503493
esv3613520 CNV gain 21293372
esv3613521 CNV gain 21293372
esv3891135 CNV gain 25118596
esv3891136 CNV gain 25118596
nsv1117731 CNV deletion 24896259
nsv507396 OTHER sequence alteration 20534489
nsv5773 CNV insertion 18451855
nsv958410 CNV deletion 24416366
nsv966835 CNV duplication 23825009
nsv970870 CNV duplication 23825009
nsv970871 CNV duplication 23825009
nsv981512 CNV duplication 23825009

Variation tolerance for RABGEF1 Gene

Residual Variation Intolerance Score: 21.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.01; 0.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RABGEF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RABGEF1 Gene

Disorders for RABGEF1 Gene

Additional Disease Information for RABGEF1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for RABGEF1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RABGEF1 Gene

Publications for RABGEF1 Gene

  1. Divalent interaction of the GGAs with the Rabaptin-5-Rabex-5 complex. (PMID: 12505986) Mattera R … Bonifacino JS (The EMBO journal 2003) 2 3 4 58
  2. Functional synergy between Rab5 effector Rabaptin-5 and exchange factor Rabex-5 when physically associated in a complex. (PMID: 11452015) Lippé R … Zerial M (Molecular biology of the cell 2001) 3 4 22 58
  3. Seven genes that are differentially transcribed in colorectal tumor cell lines. (PMID: 11098082) Nimmrich I … Müller O (Cancer letters 2000) 2 3 4 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Roles of RabGEF1/Rabex-5 domains in regulating Fc epsilon RI surface expression and Fc epsilon RI-dependent responses in mast cells. (PMID: 17341663) Kalesnikoff J … Galli SJ (Blood 2007) 3 22 58

Products for RABGEF1 Gene

Sources for RABGEF1 Gene

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