RAB33B

Protein-coding gene in the species Homo sapiens
RAB33B
Identifiers
AliasesRAB33B, SMC2, member RAS oncogene family
External IDsOMIM: 605950; MGI: 1330805; HomoloGene: 9642; GeneCards: RAB33B; OMA:RAB33B - orthologs
Gene location (Human)
Chromosome 4 (human)
Chr.Chromosome 4 (human)[1]
Chromosome 4 (human)
Genomic location for RAB33B
Genomic location for RAB33B
Band4q31.1Start139,453,232 bp[1]
End139,476,609 bp[1]
Gene location (Mouse)
Chromosome 3 (mouse)
Chr.Chromosome 3 (mouse)[2]
Chromosome 3 (mouse)
Genomic location for RAB33B
Genomic location for RAB33B
Band3|3 CStart51,391,341 bp[2]
End51,403,653 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • Achilles tendon

  • saphenous vein

  • urethra

  • Region I of hippocampus proper

  • subthalamic nucleus

  • synovial joint

  • lateral nuclear group of thalamus

  • dorsal motor nucleus of vagus nerve

  • inferior olivary nucleus

  • superficial temporal artery
Top expressed in
  • transitional epithelium of urinary bladder

  • sciatic nerve

  • Ileal epithelium

  • iris

  • trigeminal ganglion

  • median eminence

  • ureter

  • vas deferens

  • medullary collecting duct

  • condyle
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
SpeciesHumanMouse
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 MbChr 3: 51.39 – 51.4 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000172007 – Ensembl, May 2017
  2. ^ a b c 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.
  • v
  • t
  • e
  • 1z06: GppNHp-Bound Rab33 GTPase
    1z06: GppNHp-Bound Rab33 GTPase
  • 2g77: Crystal Structure of Gyp1 TBC domain in complex with Rab33 GTPase bound to GDP and AlF3
    2g77: Crystal Structure of Gyp1 TBC domain in complex with Rab33 GTPase bound to GDP and AlF3


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