RAB3GAP1

Chr 2q21.3

RAB3 GTPase activating protein catalytic subunit 1

Aliases:: RAB3GAP, KIAA0066, RAB3GAP130, WARBM1
MANE:: ENST00000264158.13

OMIM: 602536 ↗NCBI: 22930 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

RAB3GAP1 · Q15042

v62025-08-01

Predicted Aligned Error matrix for RAB3GAP1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

78.0/ 100

Confident

981 residues

Confidence breakdown

Very high(≥ 90)46%
Confident(70–90)28%
Low(50–70)6%
Very low(< 50)19%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Anophthalmia or microphthalmia
BIALLELIC, autosomal or pseudoautosomal
Bilateral congenital or childhood onset cataracts
BIALLELIC, autosomal or pseudoautosomal
Corneal abnormalities
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomal
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

Warburg micro syndrome 1
0.80
Micro syndrome
0.73
Warburg micro syndrome
0.61
Martsolf syndrome 2
0.60
hereditary disease
0.51
Cataract - intellectual disability - hypogonadism
0.37
neurodegenerative disease
0.37
Developmental cataract
0.33
cryptorchidism
0.33
hypertrichosis
0.33

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

Protein function (UniProt)

Rab3 GTPase-activating protein catalytic subunit

Catalytic subunit of the Rab3 GTPase-activating (Rab3GAP) complex composed of RAB3GAP1 and RAB3GAP2, which accelerates the otherwise slow GTP hydrolysis catalyzed by Rab proteins (PubMed:9030515, PubMed:10859313, PubMed:39779760). Has GTPase-activating protein (GAP) activity towards various Rab3 subfamily members (RAB3A, RAB3B, RAB3C and RAB3D), RAB5A and RAB43 (PubMed:10859313, PubMed:9030515, PubMed:39779760). Additionally, it has guanine nucleotide exchange factor (GEF) activity towards RAB18, promoting GDP release from RAB18 and the conversion of inactive RAB18-GDP to the active form RAB18-GTP (PubMed:24891604, PubMed:39779760). Recruits and stabilizes RAB18 at the cis-Golgi membrane in fibroblasts where RAB18 is most likely activated (PubMed:26063829). Also involved in RAB18 recruitment at the endoplasmic reticulum (ER) membrane where it maintains proper ER structure (PubMed:24891604). Required for normal eye and brain development (PubMed:15696165, PubMed:23420520). May participate in neurodevelopmental processes such as cell proliferation, migration and differentiation before synapse formation, and is involved in regulating non-synaptic vesicular release of neurotransmitters (PubMed:9030515, PubMed:9852129)