RAB33B

Chr 4q31.1

RAB33B, member RAS oncogene family

Aliases:: DKFZP434G099
MANE:: ENST00000305626.6

OMIM: 605950 ↗NCBI: 83452 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

RAB33B · Q9H082

v62025-08-01

Predicted Aligned Error matrix for RAB33B — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

80.6/ 100

Confident

229 residues

Confidence breakdown

Very high(≥ 90)59%
Confident(70–90)17%
Low(50–70)3%
Very low(< 50)21%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Smith-McCort dysplasia 2
0.67
Smith-McCort dysplasia
0.64
major salivary gland cancer
0.24
lagophthalmos
0.23
hereditary disease
0.19
Brugada syndrome
0.08
spinal cord injury
0.07
Familial progressive cardiac conduction defect
0.07
familial atrial fibrillation
0.07
Romano-Ward syndrome
0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Ras-related protein Rab-33B

The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes (PubMed:20163571, PubMed:21808068). 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 (PubMed:18448665, PubMed:20163571, PubMed:21808068). RAB33B acts, in coordination with RAB6A, to regulate intra-Golgi retrograde trafficking (PubMed:20163571). Participates in autophagosome formation by recruiting the ATG12-ATG5-ATG16L1 complex to phagophores, probably in a nucleotide-independent manner (PubMed:18448665, PubMed:32960676)