RAB33B

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)
End	139,476,609 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	51,403,653 bp
RNA expression pattern
	Top expressed in
	Achilles tendon; ; saphenous vein; ; urethra; ; Region I of hippocampus proper; ; subthalamic nucleus; ; synovial joint; ; inferior olivary nucleus; ; superficial temporal artery; ; vena cava; ; pons;
	Top expressed in
	sciatic nerve; ; iris; ; trigeminal ganglion; ; median eminence; ; ureter; ; vas deferens; ; medullary collecting duct; ; condyle; ; seminal vesicula; ; ciliary body;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	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; endoplasmic reticulum to Golgi vesicle-mediated transport; Rab protein signal transduction;
	Sources:Amigo / QuickGO
Orthologs
	83452
	19338
	ENSG00000172007
	ENSMUSG00000027739
	Q9H082
	O35963
	NM_031296
	NM_016858
	NP_112586
	NP_058554
	Wikidata
View/Edit Human	View/Edit Mouse

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

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

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000172007 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000027739 - 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.
↑ "RAB33B, member RAS oncogene family".
↑ 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.

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. Bibcode:2005Natur.434..724H. 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. Bibcode:2005Sci...307.1621B. 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. Bibcode:2002PNAS...9916899M. 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. doi:10.1242/jcs.111.8.1061. PMID 9512502.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000172007 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[entrez-5] "RAB33B, member RAS oncogene family".

[pmid22652534-6] 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.

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References

Further reading