Ras-related protein Rab-33B is a protein that in humans is encoded by the RAB33Bgene.[5]
Mutations in this gene have been associated to cases of Dyggve-Melchior-Clausen syndrome.[6]
References
^ a b cGRCh38: Ensembl release 89: ENSG00000172007 – Ensembl, May 2017
^ a b cGRCm38: 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.
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. PMC528928. 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. PMC139241. 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. PMC1083732. 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. PMC311072. 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.