RABGEF1

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)
End	66,811,464 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	130,243,183 bp
RNA expression pattern
	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
	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
	27342
	56715
	ENSG00000154710
	ENSMUSG00000025340
	Q9UJ41 ; Q3HKR1
	Q9JM13
	NM_001287060 ; NM_001287061 ; NM_001287062 ; NM_014504
	NM_001199059 ; NM_019983 ; NM_001359233 ; NM_001378873
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
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated April 11, 2024

Rab5 GDP/GTP exchange factor is a protein that in humans is encoded by the RABGEF1 gene.^[5]^[6]^[7]

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].^[7]

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References

1 2 3 GRCh38: Ensembl release 89: ENSG00000154710 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000025340 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Mattera R, Arighi CN, Lodge R, Zerial M, Bonifacino JS (Dec 2002). "Divalent interaction of the GGAs with the Rabaptin-5-Rabex-5 complex". EMBO J. 22 (1): 78–88. doi:10.1093/emboj/cdg015. PMC 140067 . PMID 12505986.
↑ Nimmrich I, Erdmann S, Melchers U, Finke U, Hentsch S, Moyer MP, Hoffmann I, Muller O (Dec 2000). "Seven genes that are differentially transcribed in colorectal tumor cell lines". Cancer Lett. 160 (1): 37–43. doi:10.1016/S0304-3835(00)00553-X. PMID 11098082.
1 2 "Entrez Gene: RABGEF1 RAB guanine nucleotide exchange factor (GEF) 1".

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.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000154710 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000025340 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid12505986-5] Mattera R, Arighi CN, Lodge R, Zerial M, Bonifacino JS (Dec 2002). "Divalent interaction of the GGAs with the Rabaptin-5-Rabex-5 complex". EMBO J. 22 (1): 78–88. doi:10.1093/emboj/cdg015. PMC 140067 . PMID 12505986.

[pmid11098082-6] Nimmrich I, Erdmann S, Melchers U, Finke U, Hentsch S, Moyer MP, Hoffmann I, Muller O (Dec 2000). "Seven genes that are differentially transcribed in colorectal tumor cell lines". Cancer Lett. 160 (1): 37–43. doi:10.1016/S0304-3835(00)00553-X. PMID 11098082.

[entrez-7] 1 2 "Entrez Gene: RABGEF1 RAB guanine nucleotide exchange factor (GEF) 1".

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RABGEF1

Related Research Articles

References

Further reading