Description: Homo sapiens RAB33B, member RAS oncogene family (RAB33B), mRNA. RefSeq Summary (NM_031296): This gene encodes a small GTP-binding protein of the Rab GTPase family, whose members function in vesicle transport during protein secretion and endocytosis. Rab GTPases are active, membrane-associated proteins that recruit effector proteins in the GTP-bound state and inactive cytosolic proteins when in a GDP-bound state. The protein encoded by this gene is ubiquitously expressed and has been implicated in Golgi to endoplasmic reticulum cycling of Golgi enzymes. In addition, this protein regulates Golgi homeostasis and coordinates intra-Golgi retrograde trafficking. Allelic variants in this gene have been associated with Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia 2, which are autosomal recessive spondyloepimetaphyseal dysplasias characterized by skeletal abnormalities. [provided by RefSeq, Sep 2016]. Transcript (Including UTRs) Position: hg19 chr4:140,374,961-140,397,069 Size: 22,109 Total Exon Count: 2 Strand: + Coding Region Position: hg19 chr4:140,375,350-140,394,280 Size: 18,931 Coding Exon Count: 2
ID:RB33B_HUMAN DESCRIPTION: RecName: Full=Ras-related protein Rab-33B; FUNCTION: Protein transport. Acts, in coordination with RAB6A, to regulate intra-Golgi retrograde trafficking. It is involved in autophagy, acting as a modulator of autophagosome formation. SUBUNIT: Interacts with ATG16L; the interaction is important for autophagosome formation (By similarity). SUBCELLULAR LOCATION: Golgi apparatus membrane; Lipid-anchor (By similarity). Golgi apparatus, cis-Golgi network. DISEASE: Defects in RAB33B are a cause of Smith-McCort dysplasia (SMC) [MIM:607326]. A rare autosomal recessive osteochondrodysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen syndrome, but with normal intelligence and no microcephaly. SMC is characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest. SIMILARITY: Belongs to the small GTPase superfamily. Rab family.
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): RAB33B CDC HuGE Published Literature: RAB33B Positive Disease Associations: Smoking Related Studies:
Smoking Neil Caporaso et al. PloS one 2009, Genome-wide and candidate gene association study of cigarette smoking behaviors., PloS one.
[PubMed 19247474]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00025 - ADP-ribosylation factor family PF00071 - Ras family PF01926 - 50S ribosome-binding GTPase PF04670 - Gtr1/RagA G protein conserved region PF08477 - Ras of Complex, Roc, domain of DAPkinase PF09439 - Signal recognition particle receptor beta subunit
ModBase Predicted Comparative 3D Structure on Q9H082
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000045 autophagosome assembly GO:0006891 intra-Golgi vesicle-mediated transport GO:0006914 autophagy GO:0015031 protein transport GO:0034067 protein localization to Golgi apparatus GO:0048705 skeletal system morphogenesis GO:1903358 regulation of Golgi organization GO:1903434 negative regulation of constitutive secretory pathway GO:2000156 regulation of retrograde vesicle-mediated transport, Golgi to ER GO:2000785 regulation of autophagosome assembly GO:0001558 regulation of cell growth GO:0050678 regulation of epithelial cell proliferation
US Server
