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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RABGAP1L
RAB GTPase activating protein 1 like
Chromosome 1 · 1q25.1
NCBI Gene: 9910Ensembl: ENSG00000152061.24HGNC: HGNC:24663UniProt: A0A0U1RRM5
49PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
Golgi apparatusGTPase activator activityprotein bindingsmall GTPase bindingneurodegenerative diseaseglaucomaosteoarthritisAbnormality of the skeletal system
✦AI Summary

RABGAP1L (RAB GTPase activating protein 1-like) is a TBC-domain-containing GAP protein that regulates small GTPase signaling in endosomal trafficking and cell-autonomous immunity. As a GTPase-activating protein, RABGAP1L catalytically inactivates multiple Rab GTPases including RAB22A, RAB7A, and RAB10, converting them from their active GTP-bound to inactive GDP-bound states 1. The protein functions as part of an ANK2/RABGAP1L complex recruited to phosphatidylinositol 3-phosphate-positive early endosomes, where it promotes polarized recycling of α5β1-integrin to enable directional cell migration 2. During pathogenic infections, RABGAP1L modulates cell-autonomous immune responses by inactivating RAB7A and RAB10 to coordinate selective autophagy against Group A Streptococcus with bacterial expulsion via endocytic recycling pathways 3. The protein also potentiates interferon-mediated antiviral defense by disrupting endosomal function and restricting early-stage entry of influenza A virus and other endocytosis-dependent RNA viruses 4. Clinically, RABGAP1L deletions associate with systemic lupus erythematosus risk in a dose-dependent manner 5, and altered RABGAP1L expression correlates with colon cancer prognosis 6. These findings establish RABGAP1L as a critical regulator linking endosomal trafficking to both adaptive and innate immunity.

Sources cited
1
RABGAP1L functions as a GTP-hydrolysis activating protein for RAB22A, converting active RAB22A-GTP to inactive RAB22A-GDP
PMID: 16923123
2
Ankyrin-B recruits RABGAP1L to PI3P-positive early endosomes where it inactivates RAB22A and promotes polarized α5β1-integrin recycling to enable fibroblast migration
PMID: 27718357
3
RABGAP1L modulates RAB7A and RAB10 during Group A Streptococcus infection to coordinate selective autophagy with bacterial expulsion via endocytic recycling
PMID: 40244851
4
RABGAP1L potentiates interferon action against influenza A virus and other endocytosis-dependent RNA viruses by disrupting endosomal function during viral entry
PMID: 35320721
5
Deletion variants of RABGAP1L are associated with increased risk of systemic lupus erythematosus, with synergistic effects when combined with other deletions
PMID: 23335107
6
RABGAP1L expression levels correlate with colon cancer patient survival and prognosis
PMID: 36345155
Disease Associationsⓘ21
neurodegenerative diseaseOpen Targets
0.44Moderate
glaucomaOpen Targets
0.34Weak
osteoarthritisOpen Targets
0.34Weak
Abnormality of the skeletal systemOpen Targets
0.32Weak
smoking cessationOpen Targets
0.32Weak
tricuspid valve diseaseOpen Targets
0.30Weak
multinodular goiterOpen Targets
0.29Weak
diabetes mellitusOpen Targets
0.29Weak
Abruptio PlacentaeOpen Targets
0.29Weak
alcohol drinkingOpen Targets
0.29Weak
smoking initiationOpen Targets
0.28Weak
cartilage diseaseOpen Targets
0.28Weak
ArthropathyOpen Targets
0.28Weak
ApneaOpen Targets
0.27Weak
ovarian dysfunctionOpen Targets
0.27Weak
StrabismusOpen Targets
0.26Weak
cholesteatomaOpen Targets
0.26Weak
bronchial diseaseOpen Targets
0.25Weak
familial glucocorticoid deficiencyOpen Targets
0.25Weak
substance-related disorderOpen Targets
0.23Weak
Leukemia, acute myelogenousUniProt
Pathogenic Variants1
NM_001366446.1(RABGAP1L):c.-34+24490G>ALikely pathogenic
Cholesteatoma
☆☆☆☆
View on ClinVar ↗
Related Genes
TRIM67Shared pathway100%DZIP1LShared pathway50%MMDShared pathway33%BORAShared pathway33%MMD2Shared pathway25%RSL1D1Shared pathway25%
Tissue Expression6 tissues
Heart
100%
Brain
42%
Bone Marrow
39%
Ovary
16%
Lung
14%
Liver
9%
Gene Interaction Network
Click a node to explore
RABGAP1LTRIM67DZIP1LMMDBORAMMD2RSL1D1
PROTEIN STRUCTURE
Preparing viewer…
PDB3HZJ · 2.30 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.59Moderately Constrained
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.46 [0.36–0.59]
RankingsWhere RABGAP1L stands among ~20K protein-coding genes
  • #9,005of 20,598
    Most Researched49
  • #5,106of 5,498
    Most Pathogenic Variants1
  • #3,950of 17,882
    Most Constrained (LOEUF)0.59 · top quartile
Genes detectedRABGAP1L
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
RabGAP1L modulates Rab7A and Rab10 to orchestrate cell-autonomous immunity.
PMID: 40244851
Cell Rep · 2025
1.00
2
Machine learning with in silico analysis markedly improves survival prediction modeling in colon cancer patients.
PMID: 36345155
Cancer Med · 2023
0.90
3
Restriction factor screening identifies RABGAP1L-mediated disruption of endocytosis as a host antiviral defense.
PMID: 35320721
Cell Rep · 2022
0.80
4
The oncogene AAMDC links PI3K-AKT-mTOR signaling with metabolic reprograming in estrogen receptor-positive breast cancer.
PMID: 33772001
Nat Commun · 2021
0.70
5
Deletion variants of RABGAP1L, 10q21.3, and C4 are associated with the risk of systemic lupus erythematosus in Korean women.
PMID: 23335107
Arthritis Rheum · 2013
0.60