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Aliases for RABGEF1 Gene

Aliases for RABGEF1 Gene

  • RAB Guanine Nucleotide Exchange Factor (GEF) 1 2 3
  • RABEX5 3 4 6
  • Rabaptin-5-Associated Exchange Factor For Rab5 3 4
  • Rabex-5 3 4
  • RAP1 3 4
  • Rab5 GDP/GTP Exchange Factor 3

External Ids for RABGEF1 Gene

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 (GEF) 1) is a Protein Coding gene. Among its related pathways are Delta508-CFTR traffic / ER-to-Golgi in CF and Lymphocyte Signaling. GO annotations related to this gene include 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

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

Genomics for RABGEF1 Gene

Genomic Location for RABGEF1 Gene

Start:
66,682,091 bp from pter
End:
66,811,464 bp from pter
Size:
129,374 bases
Orientation:
Plus strand

Genomic View for RABGEF1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RABGEF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RABGEF1 Gene

Regulatory Elements for RABGEF1 Gene

Proteins for RABGEF1 Gene

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

    Protein Symbol:
    Q9UJ41-RABX5_HUMAN
    Recommended name:
    Rab5 GDP/GTP exchange factor
    Protein Accession:
    Q9UJ41
    Secondary Accessions:
    • B4DZM7
    • Q3HKR2
    • Q3HKR3
    • Q53FG0

    Protein attributes for RABGEF1 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for RABGEF1 Gene

Proteomics data for RABGEF1 Gene at MOPED

Post-translational modifications for RABGEF1 Gene

  • Monoubiquitinated
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys263, Lys281, Lys299, Lys318, Lys325, Lys329, Lys348, Lys423, Lys520, and Lys629

No data available for DME Specific Peptides for RABGEF1 Gene

Domains for RABGEF1 Gene

Protein Domains for RABGEF1 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

RABX5_HUMAN
Domain:
  • Contains 1 VPS9 domain.:
    • Q9UJ41
Similarity:
  • Contains 1 A20-type zinc finger.:
    • Q9UJ41
genes like me logo Genes that share domains with RABGEF1: view

No data available for Gene Families 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).

Gene Ontology (GO) - Molecular Function for RABGEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0004842 ubiquitin-protein transferase activity IEA --
GO:0005515 protein binding IPI 16189514
GO:0008270 zinc ion binding IEA --
GO:0017112 Rab guanyl-nucleotide exchange factor activity IMP 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:

miRNA for RABGEF1 Gene

miRTarBase miRNAs that target RABGEF1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for RABGEF1 Gene

Localization for RABGEF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RABGEF1 Gene

Cytoplasm. Early endosome. Recycling endosome.

Gene Ontology (GO) - Cellular Components for RABGEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005769 early endosome IMP 23382462
GO:0031982 vesicle IEA --
GO:0055037 recycling endosome IEA --
genes like me logo Genes that share ontologies with RABGEF1: view

Pathways for RABGEF1 Gene

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

Pathways by source for RABGEF1 Gene

1 Cell Signaling Technology pathway for RABGEF1 Gene

Gene Ontology (GO) - Biological Process for RABGEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001933 negative regulation of protein phosphorylation IEA --
GO:0002686 negative regulation of leukocyte migration IEA --
GO:0006612 protein targeting to membrane IMP 23382462
GO:0006897 endocytosis IEA --
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with RABGEF1: view

Compounds for RABGEF1 Gene

(1) HMDB Compounds for RABGEF1 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine triphosphate
  • 5'-GTP
86-01-1

(2) Novoseek inferred chemical compound relationships for RABGEF1 Gene

Compound -log(P) Hits PubMed IDs
gdp 69 2
gtp 48.8 2
genes like me logo Genes that share compounds with RABGEF1: view

Transcripts for RABGEF1 Gene

Unigene Clusters for RABGEF1 Gene

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

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: - - - - - - - - -
SP3:
SP4: - - - - - - - - -
SP5: - - - - - - -
SP6: - - - - - -
SP7: - - -
SP8: - - -
SP9: - - - - -
SP10: - - -
SP11: - - - - -
SP12:
SP13: -

ExUns: 12b ^ 13 ^ 14 ^ 15a · 15b · 15c
SP1: -
SP2: -
SP3: -
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for RABGEF1 Gene

GeneLoc Exon Structure for
RABGEF1
ECgene alternative splicing isoforms for
RABGEF1

Expression for RABGEF1 Gene

mRNA expression in normal human tissues 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 (4.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RABGEF1 Gene

SOURCE GeneReport for Unigene cluster for RABGEF1 Gene Hs.530053

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

Orthologs for RABGEF1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RABGEF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RABGEF1 36
  • 99.47 (n)
  • 100 (a)
RABGEF1 37
  • 100 (a)
OneToMany
cow
(Bos Taurus)
Mammalia RABGEF1 36
  • 92.74 (n)
  • 97.35 (a)
RABGEF1 37
  • 97 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 37
  • 63 (a)
OneToMany
RABGEF1 36
  • 92.58 (n)
  • 96.96 (a)
mouse
(Mus musculus)
Mammalia Rabgef1 36
  • 88.53 (n)
  • 95.72 (a)
Rabgef1 16
Rabgef1 37
  • 96 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 92 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 89 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Rabgef1 36
  • 87.37 (n)
  • 94.79 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 89 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii rabgef1 36
  • 70.97 (n)
  • 73.16 (a)
rabgef1 37
  • 71 (a)
ManyToMany
rabgef1l 37
  • 53 (a)
ManyToMany
zgc65944 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005551 36
  • 48.7 (n)
  • 34.9 (a)
fruit fly
(Drosophila melanogaster)
Insecta Rabex-5 36
  • 48.37 (n)
  • 35.78 (a)
Rabex-5 37
  • 20 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rabx-5 36
  • 48.83 (n)
  • 37.54 (a)
rabx-5 37
  • 25 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS9 37
  • 19 (a)
OneToMany
VPS9 39
rice
(Oryza sativa)
Liliopsida Os03g0842700 36
  • 50.21 (n)
  • 38.27 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1840 37
  • 34 (a)
OneToMany
Species with no ortholog for RABGEF1:
  • 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

ENSEMBL:
Gene Tree for RABGEF1 (if available)
TreeFam:
Gene Tree for RABGEF1 (if available)

Paralogs for RABGEF1 Gene

Paralogs for RABGEF1 Gene

Selected SIMAP similar genes for RABGEF1 Gene using alignment to 5 proteins:

Pseudogenes.org 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 Sequence Context AA Info Type MAF
rs974239 -- 66,748,504(+) TTATC(A/G)TGGGG intron-variant
rs1016265 -- 66,749,580(+) ATTGC(C/T)GGAGG intron-variant
rs1027808 -- 66,749,527(+) gcgag(G/T)tgttg intron-variant
rs1060796 -- 66,689,142(+) GTCAC(C/G)TAACT intron-variant
rs1110414 -- 66,740,595(+) GATCC(A/G)CTCGC utr-variant-5-prime, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
esv2734600 CNV Deletion 23290073
nsv888328 CNV Gain 21882294
esv2671700 CNV Deletion 23128226
nsv888329 CNV Gain 21882294
nsv5773 CNV Insertion 18451855
nsv507396 CNV Insertion 20534489

Relevant External Links for RABGEF1 Gene

HapMap Linkage Disequilibrium report
RABGEF1

Disorders for RABGEF1 Gene

Relevant External Links for RABGEF1

Genetic Association Database (GAD)
RABGEF1
Human Genome Epidemiology (HuGE) Navigator
RABGEF1
genes like me logo Genes that share disorders with RABGEF1: view

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

Publications for RABGEF1 Gene

  1. Functional synergy between Rab5 effector Rabaptin-5 and exchange factor Rabex-5 when physically associated in a complex. (PMID: 11452015) Lippe R. … Zerial M. (Mol. Biol. Cell 2001) 3 4 23
  2. Seven genes that are differentially transcribed in colorectal tumor cell lines. (PMID: 11098082) Nimmrich I. … Mueller O. (Cancer Lett. 2000) 2 3 4
  3. Divalent interaction of the GGAs with the Rabaptin-5-Rabex-5 complex. (PMID: 12505986) Mattera R. … Bonifacino J.S. (EMBO J. 2003) 2 3 4
  4. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for RABGEF1 Gene

Sources for RABGEF1 Gene

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