RIC1

Chr 9p24.1

RIC1 partner of RAB6A GEF complex

Aliases:: bA207C16.1
MANE:: ENST00000414202.7

OMIM: 610354 ↗NCBI: 57589 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

RIC1 · Q4ADV7

v62025-08-01

Predicted Aligned Error matrix for RIC1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

72.9/ 100

Confident

1,423 residues

Confidence breakdown

Very high(≥ 90)37%
Confident(70–90)30%
Low(50–70)9%
Very low(< 50)24%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Bilateral congenital or childhood onset cataracts
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Catifa syndrome
0.61
respiratory system disorder
0.40
asthma
0.33
bipolar disorder
0.28
placental retention
0.25
lower respiratory tract disorder
0.25
Menorrhagia
0.24
esophageal cancer
0.24
metabolic syndrome X
0.22
cataract
0.19

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

Protein function (UniProt)

Guanine nucleotide exchange factor subunit RIC1

The RIC1-RGP1 complex acts as a guanine nucleotide exchange factor (GEF), which activates RAB6A by exchanging bound GDP for free GTP, and may thereby be required for efficient fusion of endosome-derived vesicles with the Golgi compartment (PubMed:23091056). The RIC1-RGP1 complex participates in the recycling of mannose-6-phosphate receptors (PubMed:23091056). Required for phosphorylation and localization of GJA1 (PubMed:16112082). Is a regulator of procollagen transport and secretion, and is required for correct cartilage morphogenesis and development of the craniofacial skeleton (PubMed:31932796)