RAB33B
Ras-related protein Rab-33B
Also known as: DKFZP434G099, RB33B_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9H082
- Gene
- RAB33B
- Ensembl
- ENSG00000172007
- Chromosome
- 4
- Canonical length
- 229 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Quaternary structure
- Homodimer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
229 residues, UniProt reviewed canonical sequence.
>Q9H082|RAB33B
1 MAEEMESSLE ASFSSSGAVS GASGFLPPAR SRIFKIIVIG DSNVGKTCLT YRFCAGRFPD
61 RTEATIGVDF RERAVEIDGE RIKIQLWDTA GQERFRKSMV QHYYRNVHAV VFVYDMTNMA
121 SFHSLPSWIE ECKQHLLAND IPRILVGNKC DLRSAIQVPT DLAQKFADTH SMPLFETSAK
181 NPNDNDHVEA IFMTLAHKLK SHKPLMLSQP PDNGIILKPE PKPAMTCWCLocalizationUniProt · AlphaFold · HPA
Whether an antibody against RAB33B can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.37
- Highest tissue expression
- 16 nTPM
Expression across tissuesHPA
Tissue
- liver: 16 nTPM
- bone marrow: 12 nTPM
- pancreas: 9.5 nTPM
- endometrium: 8.8 nTPM
- placenta: 8.5 nTPM
- ovary: 8.4 nTPM
Single-cell type
- neutrophils: 107 nCPM
- late spermatids: 94 nCPM
- cardiomyocytes: 89 nCPM
- epicardial cells: 68 nCPM
- neutrophil progenitors: 65 nCPM
- early spermatids: 42 nCPM
Immune cell
- neutrophil: 23 nTPM
- eosinophil: 8.8 nTPM
- MAIT T-cell: 5.8 nTPM
- naive CD4 T-cell: 5.6 nTPM
- T-reg: 5.2 nTPM
- naive CD8 T-cell: 5.1 nTPM
Brain region
- white matter: 17 nTPM
- cerebellum: 17 nTPM
- medulla oblongata: 15 nTPM
- pons: 13 nTPM
- thalamus: 13 nTPM
- spinal cord: 12 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about RAB33B.
Disease | AllUniProt
Conditions RAB33B is implicated in, by any mechanism.
- Smith-McCort dysplasia 2 (SMC2) MIM:615222
Disease | GeneticClinVar
11 pathogenic / likely-pathogenic of 139 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Smith-McCort dysplasia 2
- See cases
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.6
- gnomAD pLI
- 0.68
- gnomAD missense Z
- 0.63
- DepMap mean gene effect
- 0.08
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- autophagosome assembly
- intra-Golgi vesicle-mediated transport
- protein localization to Golgi apparatus
- protein localization to phagophore assembly site
- protein transport
- Rab protein signal transduction
- regulation of exocytosis
- regulation of Golgi organization
- regulation of retrograde vesicle-mediated transport, Golgi to ER
- skeletal system morphogenesis
- negative regulation of constitutive secretory pathway
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of RAB33B in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads RAB33B as an antibody target. Whether an autoantibody or antibody against RAB33B could matter depends on whether native RAB33B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
RAB33B is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label RAB33B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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