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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RIC1
RIC1 partner of RAB6A GEF complex
Chromosome 9 · 9p24.1
NCBI Gene: 57589Ensembl: ENSG00000107036.13HGNC: HGNC:17686UniProt: Q4ADV7
26PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
guanyl-nucleotide exchange factor activityprotein bindingsmall GTPase bindingregulation of extracellular matrix constituent secretionCatifa syndromerespiratory system diseaseasthmabipolar disorder
✦AI Summary

RIC1 forms a heterodimeric complex with RGP1 that functions as a guanine nucleotide exchange factor (GEF) for RAB6A, activating this GTPase by catalyzing GDP-to-GTP exchange 1. The RIC1-RGP1 complex is essential for efficient retrograde transport from endosomes to the Golgi compartment and participates in recycling of mannose-6-phosphate receptors 1. Structurally, RIC1-RGP1 interacts with RAB6A's nucleotide-binding domain through an uncharacterized helical RabGEF domain and uses an arrestin fold to bind RAB6A's hypervariable domain 2. RIC1 also functions as an effector of the medial Golgi RAB33B GTPase, establishing a RAB cascade between medial and trans-Golgi compartments 1. Beyond membrane trafficking, RIC1 is crucial for procollagen transport and secretion, making it essential for proper cartilage morphogenesis and craniofacial skeleton development 3. Loss of RIC1 function is associated with CATIFA syndrome, characterized by cleft lip, cataracts, tooth abnormalities, intellectual disability, facial dysmorphism, and ADHD 3. RIC1 haploinsufficiency through chromosome 9 deletions contributes to craniofacial defects and has been identified as one of 24 critical genes responsible for the majority of 9p deletion syndrome phenotypes 45.

Sources cited
1
RIC1-RGP1 complex acts as GEF for RAB6A and participates in retrograde transport and mannose-6-phosphate receptor recycling
PMID: 23091056
2
Structural details of RIC1-RGP1-RAB6A complex showing helical RabGEF domain and arrestin fold interactions
PMID: 39632878
3
RIC1 role in procollagen transport, cartilage morphogenesis, craniofacial development, and CATIFA syndrome
PMID: 31932796
4
RIC1 as one of 24 critical genes in 9p deletion syndrome affecting 83% of individuals
PMID: 40196253
5
RIC1 identification as a clefting gene through copy-number variant analysis
PMID: 36493769
Disease Associationsⓘ21
Catifa syndromeOpen Targets
0.61Moderate
respiratory system diseaseOpen Targets
0.43Moderate
asthmaOpen Targets
0.34Weak
bipolar disorderOpen Targets
0.31Weak
placental retentionOpen Targets
0.27Weak
lower respiratory tract diseaseOpen Targets
0.26Weak
MenorrhagiaOpen Targets
0.25Weak
esophageal cancerOpen Targets
0.23Weak
metabolic syndrome XOpen Targets
0.23Weak
Nasal Cavity PolypOpen Targets
0.20Weak
cataractOpen Targets
0.19Weak
attention deficit hyperactivity disorderOpen Targets
0.19Weak
cleft lipOpen Targets
0.19Weak
Intellectual disabilityOpen Targets
0.19Weak
Abnormal facial shapeOpen Targets
0.18Weak
Abnormality of the dentitionOpen Targets
0.18Weak
SeizureOpen Targets
0.12Weak
hypothyroidismOpen Targets
0.08Suggestive
myxedemaOpen Targets
0.08Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.05Suggestive
CATIFA syndromeUniProt
Pathogenic Variants1
NM_020829.4(RIC1):c.2333C>T (p.Pro778Leu)Likely pathogenic
Catifa syndrome
★☆☆☆2022→ Residue 778
View on ClinVar ↗
Related Genes
BRD10Co-mentioned in literature100%ZNG1ACo-mentioned in literature100%LAMTOR4Protein interaction100%COG7Protein interaction100%COG8Protein interaction100%DOCK1Protein interaction90%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
94%
Ovary
78%
Liver
55%
Heart
49%
Brain
41%
Gene Interaction Network
Click a node to explore
RIC1BRD10ZNG1ALAMTOR4COG7COG8DOCK1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q4ADV7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.58Moderately Constrained
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.47 [0.38–0.58]
RankingsWhere RIC1 stands among ~20K protein-coding genes
  • #12,864of 20,598
    Most Researched26
  • #5,304of 5,498
    Most Pathogenic Variants1
  • #3,837of 17,882
    Most Constrained (LOEUF)0.58 · top quartile
Genes detectedRIC1
Sources retrieved10 papers
Response time—
📄 Sources
10â–¼
1
Structural basis for Rab6 activation by the Ric1-Rgp1 complex.
PMID: 39632878
Nat Commun · 2024
1.00
2
Whole-Genome Sequencing Reveals Individual and Cohort Level Insights into Chromosome 9p Syndromes.
PMID: 40196253
medRxiv · 2025
0.90
3
Classification and functional characterization of regulators of intracellular STING trafficking identified by genome-wide optical pooled screening.
PMID: 39657680
Cell Syst · 2024
0.80
4
Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies.
PMID: 31932796
Nat Med · 2020
0.70
5
Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes.
PMID: 36493769
Am J Hum Genet · 2023
0.60