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) [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 51,391,341 bp [2] End 51,403,653 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 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: 51.39 – 51.4 Mb PubMed search [3] [4]
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. 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. 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.