RABGEF1

Rab5 GDP/GTP exchange factor is a protein that in humans is encoded by the RABGEF1 gene.

RABGEF1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1TXU, 2C7M, 2C7N, 2OT3, 4N3X, 4N3Y, 4N3Z, 4Q9U
Identifiers
Aliases	RABGEF1, RABEX5, RAP1, rabex-5, RAB guanine nucleotide exchange factor 1
External IDs	OMIM: 609700 MGI: 1929459 HomoloGene: 8720 GeneCards: RABGEF1
Gene location (Human) Chr. Chromosome 7 (human) Band 7q11.21 Start 66,682,164 bp End 66,811,464 bp
Gene location (Mouse) Chr. Chromosome 5 (mouse) Band 5|5 G1.3 Start 130,200,639 bp End 130,243,183 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in bone marrow stromal cell of endometrium skin of abdomen gastric mucosa blood vagina superior frontal gyrus bone marrow cells right coronary artery urinary bladder Top expressed in retinal pigment epithelium sternocleidomastoid muscle triceps brachii muscle temporal muscle tibialis anterior muscle digastric muscle skeletal muscle tissue gastrocnemius muscle vastus lateralis muscle soleus muscle More reference expression data BioGPS n/a
Gene ontology Molecular function DNA binding zinc ion binding metal ion binding protein binding ubiquitin protein ligase activity Cellular component cytoplasm recycling endosome endosome early endosome nucleolus cytosol early endosome membrane vesicle Biological process endocytosis protein targeting to membrane protein transport negative regulation of protein phosphorylation negative regulation of leukocyte migration protein ubiquitination negative regulation of mast cell activation negative regulation of mast cell degranulation negative regulation of Ras protein signal transduction negative regulation of receptor-mediated endocytosis negative regulation of inflammatory response regulation of Fc receptor mediated stimulatory signaling pathway negative regulation of Kit signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 27342 56715 Ensembl ENSG00000154710 ENSMUSG00000025340 UniProt Q9UJ41 Q3HKR1 Q9JM13 RefSeq (mRNA) NM_001287060 NM_001287061 NM_001287062 NM_014504 NM_001199059 NM_019983 NM_001359233 NM_001378873 RefSeq (protein) NP_001273989 NP_001273990 NP_001273991 NP_055319 NP_001354651 NP_001354652 NP_001354653 NP_001354654 NP_001354655 NP_001354656 NP_001354657 NP_001354658 NP_001354659 NP_001354660 NP_001354661 NP_001354662 NP_001354663 NP_001354664 NP_001354665 NP_001354666 NP_001354667 NP_001354668 NP_001354669 NP_001354670 NP_001354671 NP_001354672 NP_001354673 NP_001354674 NP_001354675 NP_001354676 NP_001354677 NP_001354678 NP_001354679 NP_001354680 NP_001354681 NP_001354682 NP_001354683 NP_001354684 NP_001354685 NP_001185988 NP_064367 NP_001346162 NP_001365802 NP_001390209 NP_001390210 NP_001390211 NP_001390212 Location (UCSC) Chr 7: 66.68 – 66.81 Mb Chr 5: 130.2 – 130.24 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

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 for RAB5(RAB5A; MIM 179512) (Horiuchi et al., 1997) [supplied by OMIM].

Further reading

• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
• Horiuchi H, Lippé R, McBride HM, et al. (1997). "A novel Rab5 GDP/GTP exchange factor complexed to Rabaptin-5 links nucleotide exchange to effector recruitment and function". Cell. 90 (6): 1149–59. doi:10.1016/S0092-8674(00)80380-3. PMID 9323142. S2CID 13972726.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• Lippé R, Miaczynska M, Rybin V, et al. (2001). "Functional synergy between Rab5 effector Rabaptin-5 and exchange factor Rabex-5 when physically associated in a complex". Mol. Biol. Cell. 12 (7): 2219–28. doi:10.1091/mbc.12.7.2219. PMC 55678. PMID 11452015.
• de Renzis S, Sönnichsen B, Zerial M (2002). "Divalent Rab effectors regulate the sub-compartmental organization and sorting of early endosomes". Nat. Cell Biol. 4 (2): 124–33. doi:10.1038/ncb744. PMID 11788822. S2CID 6596498.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7". Nature. 424 (6945): 157–64. Bibcode:2003Natur.424..157H. doi:10.1038/nature01782. PMID 12853948.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Jin J, Smith FD, Stark C, et al. (2004). "Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization". Curr. Biol. 14 (16): 1436–50. Bibcode:2004CBio...14.1436J. doi:10.1016/j.cub.2004.07.051. PMID 15324660. S2CID 2371325.
• Delprato A, Merithew E, Lambright DG (2004). "Structure, exchange determinants, and family-wide rab specificity of the tandem helical bundle and Vps9 domains of Rabex-5". Cell. 118 (5): 607–17. doi:10.1016/j.cell.2004.08.009. PMID 15339665. S2CID 9638315.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
• Penengo L, Mapelli M, Murachelli AG, et al. (2006). "Crystal structure of the ubiquitin binding domains of rabex-5 reveals two modes of interaction with ubiquitin". Cell. 124 (6): 1183–95. doi:10.1016/j.cell.2006.02.020. PMID 16499958. S2CID 2639312.
• Kalesnikoff J, Rios EJ, Chen CC, et al. (2007). "Roles of RabGEF1/Rabex-5 domains in regulating Fc epsilon RI surface expression and Fc epsilon RI-dependent responses in mast cells". Blood. 109 (12): 5308–17. doi:10.1182/blood-2007-01-067363. PMC 1890836. PMID 17341663.
• Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
• Delprato A, Lambright DG (2007). "Structural basis for Rab GTPase activation by VPS9 domain exchange factors". Nat. Struct. Mol. Biol. 14 (5): 406–12. doi:10.1038/nsmb1232. PMC 2254184. PMID 17450153.