RAB33B

Ras-related protein Rab-33B is a protein that in humans is encoded by the RAB33B gene.[5]

RAB33B
Identifiers
Aliases	RAB33B, SMC2, member RAS oncogene family
External IDs	OMIM: 605950 MGI: 1330805 HomoloGene: 9642 GeneCards: RAB33B
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4q31.1 Start 139,453,232 bp[1] End 139,476,609 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3|3 C Start 51,483,920 bp[2] End 51,496,232 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • GO:0001948 protein binding • nucleotide binding • GTP binding • GTPase activity Cellular component • membrane • Golgi lumen • Golgi apparatus • Golgi membrane • presynapse • endoplasmic reticulum membrane Biological process • negative regulation of constitutive secretory pathway • regulation of Golgi organization • intra-Golgi vesicle-mediated transport • regulation of epithelial cell proliferation • regulation of retrograde vesicle-mediated transport, Golgi to ER • protein transport • skeletal system morphogenesis • autophagy • regulation of cell growth • autophagosome assembly • regulation of autophagosome assembly • protein localization to Golgi apparatus • intracellular protein transport • ER to Golgi vesicle-mediated transport • Rab protein signal transduction Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	83452	19338
Ensembl	ENSG00000172007	ENSMUSG00000027739
UniProt	Q9H082	O35963
RefSeq (mRNA)	NM_031296	NM_016858
RefSeq (protein)	NP_112586	NP_058554
Location (UCSC)	Chr 4: 139.45 – 139.48 Mb	Chr 3: 51.48 – 51.5 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Mutations in this gene have been associated to cases of Dyggve-Melchior-Clausen syndrome.[6]

References

1. GRCh38: Ensembl release 89: ENSG00000172007 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000027739 - 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.
5. "RAB33B, member RAS oncogene family".
6. Alshammari MJ, Al-Otaibi L, Alkuraya FS (May 2012). "Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve-Melchior-Clausen locus". J Med Genet. 49 (7): 455–61. doi:10.1136/jmedgenet-2011-100666. PMID 22652534. S2CID 206997124.

Further reading

• Hillier LW, Graves TA, Fulton RS, et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature. 434 (7034): 724–31. doi:10.1038/nature03466. PMID 15815621.
• Barrios-Rodiles M, Brown KR, Ozdamar B, et al. (2005). "High-throughput mapping of a dynamic signaling network in mammalian cells". Science. 307 (5715): 1621–5. doi:10.1126/science.1105776. PMID 15761153. S2CID 39457788.
• 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.
• 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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Valsdottir R, Hashimoto H, Ashman K, et al. (2001). "Identification of rabaptin-5, rabex-5, and GM130 as putative effectors of rab33b, a regulator of retrograde traffic between the Golgi apparatus and ER". FEBS Lett. 508 (2): 201–9. doi:10.1016/S0014-5793(01)02993-3. PMID 11718716. S2CID 21545088.
• Simpson JC, Wellenreuther R, Poustka A, et al. (2001). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.
• Wiemann S, Weil B, Wellenreuther R, et al. (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
• Zheng JY, Koda T, Fujiwara T, et al. (1998). "A novel Rab GTPase, Rab33B, is ubiquitously expressed and localized to the medial Golgi cisternae". J. Cell Sci. 111 (8): 1061–9. PMID 9512502.