RHOBTB3

Rho-related BTB domain containing 3
Identifiers
Symbols	RHOBTB3 ; KIAA0878
External IDs	OMIM: 607353 MGI: 1920546 HomoloGene: 8932 GeneCards: RHOBTB3 Gene
Gene ontology Molecular function • protein binding • ATP binding • ATPase activity • Rab GTPase binding Cellular component • Golgi apparatus • extracellular exosome Biological process • small GTPase mediated signal transduction • metabolic process • retrograde transport, endosome to Golgi Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	22836	73296
Ensembl	ENSG00000164292	ENSMUSG00000021589
UniProt	O94955	Q9CTN4
RefSeq (mRNA)	NM_014899	NM_028493
RefSeq (protein)	NP_055714	NP_082769
Location (UCSC)	Chr 5: 95.71 – 95.82 Mb	Chr 13: 75.87 – 75.94 Mb
PubMed search

Rho-related BTB domain-containing protein 3 is a protein that in humans is encoded by the RHOBTB3 gene.^[1][2][3]

Function

RHOBTB3 is a member of the evolutionarily conserved RhoBTB subfamily of Rho GTPases. For background information on RHOBTBs, see RHOBTB1 (MIM 607351).[supplied by OMIM]^[3]

Model organisms

Rhobtb3 knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Normal
Fertility	Normal
Body weight	Abnormal[4]
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Abnormal[5]
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Abnormal[6]
Radiography	Abnormal[7]
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Haematology	Normal
Peripheral blood lymphocytes	Normal
Micronucleus test	Normal
Heart weight	Normal
Skin Histopathology	Normal
Brain histopathology	Normal
Citrobacter infection	Normal[8]
All tests and analysis from[9][10]

Model organisms have been used in the study of RHOBTB3 function. A conditional knockout mouse line, called Rhobtb3^{tm1a(KOMP)Wtsi[11][12]} was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.^[13][14][15]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.^[9][16] Twenty three tests were carried out on mutant mice and four significant abnormalities were observed.^[9] Homozygote mutant males had a decreased body weight and abnormal tooth morphology; females had decreased forepaw grip strength and both sexes had a decreased body length.^[9]

References

1. Rivero F, Dislich H, Glöckner G, Noegel AA (Mar 2001). "The Dictyostelium discoideum family of Rho-related proteins". Nucleic Acids Research 29 (5): 1068–79. doi:10.1093/nar/29.5.1068. PMC 29714. PMID 11222756.
2. Boureux A, Vignal E, Faure S, Fort P (Jan 2007). "Evolution of the Rho family of ras-like GTPases in eukaryotes". Molecular Biology and Evolution 24 (1): 203–16. doi:10.1093/molbev/msl145. PMC 2665304. PMID 17035353.
3. "Entrez Gene: RHOBTB3 Rho-related BTB domain containing 3".
4. "Body weight data for Rhobtb3". Wellcome Trust Sanger Institute.
5. "Grip strength data for Rhobtb3". Wellcome Trust Sanger Institute.
6. "DEXA data for Rhobtb3". Wellcome Trust Sanger Institute.
7. "Radiography data for Rhobtb3". Wellcome Trust Sanger Institute.
8. "Citrobacter infection data for Rhobtb3". Wellcome Trust Sanger Institute.
9. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.
10. Mouse Resources Portal, Wellcome Trust Sanger Institute.
11. "International Knockout Mouse Consortium".
12. "Mouse Genome Informatics".
13. Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
14. Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
15. Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
16. van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.

Further reading

• Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA (Apr 1996). "A "double adaptor" method for improved shotgun library construction". Analytical Biochemistry 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
• Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA (Apr 1997). "Large-scale concatenation cDNA sequencing". Genome Research 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
• Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Dec 1998). "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research 5 (6): 355–64. doi:10.1093/dnares/5.6.355. PMID 10048485.
• Ramos S, Khademi F, Somesh BP, Rivero F (Oct 2002). "Genomic organization and expression profile of the small GTPases of the RhoBTB family in human and mouse". Gene 298 (2): 147–57. doi:10.1016/S0378-1119(02)00980-0. PMID 12426103.
• Brandenberger R, Wei H, Zhang S, Lei S, Murage J, Fisk GJ, Li Y, Xu C, Fang R, Guegler K, Rao MS, Mandalam R, Lebkowski J, Stanton LW (Jun 2004). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nature Biotechnology 22 (6): 707–16. doi:10.1038/nbt971. PMID 15146197.