RAB33A

Chr X

RAB33A, member RAS oncogene family

ENSG00000134594UniProt: Q14088

The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes (By similarity). Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (By similarity). Modulates autophagosome formation through interaction with ATG16L1 (By similarity)

0
ClinVar variants
0
Pathogenic / LP
0.82
pLI score
0
Active trials
Clinical Summary— RAB33A
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.82) — some intolerance to loss-of-function variants.
Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.53LOEUF
pLI 0.822
Z-score 2.21
OE 0.00 (0.00–0.53)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.93Z-score
OE missense 0.46 (0.36–0.59)
46 obs / 100.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.00 (0.00–0.53)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.46 (0.36–0.59)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.89
0≤1.21.6
LoF obs/exp: 0 / 5.7Missense obs/exp: 46 / 100.4Syn Z: 0.58

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RAB33A · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
RAB33A promotes metastasis via RhoC accumulation through non-canonical autophagy in cervical cancer.
Huo L et al.·Cell Death Dis
2025
Myoepithelial Tumors of Bone.
Song W et al.·Surg Pathol Clin
2017Review
Rab33A: characterization, expression, and suppression by epigenetic modification.
Cheng E et al.·J Invest Dermatol
2006
Ras-associated small GTPase 33A, a novel T cell factor, is down-regulated in patients with tuberculosis.
Jacobsen M et al.·J Infect Dis
2005Cohort
Effect of non-tuberculous Mycobacteria on host biomarkers potentially relevant for tuberculosis management.
Dhanasekaran S et al.·PLoS Negl Trop Dis
2014
A Web-based data warehouse on gene expression in human malignant melanoma.
Györffy B et al.·J Invest Dermatol
2007
A novel Rab GTPase, Rab33B, is ubiquitously expressed and localized to the medial Golgi cisternae.
Zheng JY et al.·J Cell Sci
1998
Identification of biomarkers for Mycobacterium tuberculosis infection and disease in BCG-vaccinated young children in Southern India.
Dhanasekaran S et al.·Genes Immun
2013
DDT exposure induces tremor-like behavior and neurotoxicity in developmental stages of embryonic zebrafish.
Lou Y et al.·Ecotoxicol Environ Saf
2024Functional
Atg16L1, an essential factor for canonical autophagy, participates in hormone secretion from PC12 cells independently of autophagic activity.
Ishibashi K et al.·Mol Biol Cell
2012
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools