RAB23

Chr 6p12.1-p11.2

RAB23, member RAS oncogene family

MANE:: ENST00000468148.6

OMIM: 606144 ↗NCBI: 51715 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

RAB23 · Q9ULC3

v62025-08-01

Predicted Aligned Error matrix for RAB23 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

79.6/ 100

Confident

237 residues

Confidence breakdown

Very high(≥ 90)59%
Confident(70–90)12%
Low(50–70)7%
Very low(< 50)22%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Limb disorders
BIALLELIC, autosomal or pseudoautosomal
Rare syndromic craniosynostosis or isolated multisuture synostosis
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

RAB23-related Carpenter syndrome
0.78
Carpenter syndrome
0.77
coronary artery disorder
0.42
hereditary disease
0.41
coronary atherosclerosis
0.39
acrocephalopolysyndactyly
0.37
polydactyly
0.37
heart disorder
0.36
angina pectoris
0.34
myocardial infarction
0.34

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

Protein function (UniProt)

Ras-related protein Rab-23

The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. In conjunction with IFT57 and KIF17, it drives the localization of specific G protein-coupled receptors, such as the dopamime receptor DRD1, to primary cilia (PubMed:26182404). Has a critical role in the formation and elongation of neuronal primary cilia, thereby impacting the activation of sonic hedgehog (Shh) signaling (PubMed:40825043). Additionally, it is involved in the down-regulation of Shh signaling by cooperating with SUFU to prevent the nuclear import of GLI1 transcription factor, thus suppressing its transcriptional activity (PubMed:22365972) (PubMed:39615683). Regulates GLI1 in differentiating chondrocytes. Likewise, regulates GLI3 proteolytic processing and modulates GLI2 and GLI3 transcription factor activity. Plays a role in autophagic vacuole assembly, and mediates defense against pathogens, such as S.aureus, by promoting their capture by autophagosomes that then merge with lysosomes (PubMed:22452336)