RABGEF1

RABGEF1

Identifiers

RABGEF1, RABEX5, RAP1, rabex-5, RAB guanine nucleotide exchange factor 1

External IDs

OMIM: 609700; MGI: 1929459; GeneCards: RABGEF1

Available structures

Ortholog search: PDBe RCSB

List of PDB id codes
1TXU, 2C7M, 2C7N, 2OT3, 4N3X, 4N3Y, 4N3Z, 4Q9U

Gene location (Human)

Chr.	Chromosome 7 (human)

Band	7q11.21	Start	66,682,164 bp
Band	7q11.21	End	66,811,464 bp

Gene location (Mouse)

Chr.	Chromosome 5 (mouse)

Band	5\|5 G1.3	Start	130,200,639 bp
Band	5\|5 G1.3	End	130,243,183 bp

RNA expression pattern

Human

Mouse (ortholog)

Top expressed in

bone marrow

skin of leg

stromal cell of endometrium

skin of abdomen

gastric mucosa

tibial arteries

blood

vagina

superior frontal gyrus

bone marrow cell

Top expressed in

neural layer of retina

epithelium of lens

retinal pigment epithelium

sternocleidomastoid muscle

triceps brachii muscle

transitional epithelium of urinary bladder

temporal muscle

tibialis anterior muscle

muscle of thigh

digastric 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

Databases

NCBI: entry; OMA: entry

Species

Human

Mouse


27342


56715


ENSG00000154710


ENSMUSG00000025340


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

View/Edit Human

View/Edit Mouse

Rab5 GDP/GTP exchange factor is a protein that in humans is encoded by the 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 for RAB5(RAB5A; MIM 179512) (Horiuchi et al., 1997) [supplied by OMIM].

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".

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.

PDB gallery

1txu: Crystal Structure of the Vps9 Domain of Rabex-5
2c7m: HUMAN RABEX-5 RESIDUES 1-74 IN COMPLEX WITH UBIQUITIN
2c7n: HUMAN RABEX-5 RESIDUES 1-74 IN COMPLEX WITH UBIQUITIN
2fid: Crystal Structure of a Bovine Rabex-5 fragment complexed with ubiquitin
2fif: Crystal Structure of a Bovine Rabex-5 fragment complexed with ubiquitin
2ot3: Crystal structure of rabex-5 VPS9 domain in complex with nucleotide free RAB21

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