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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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RARRES1
retinoic acid receptor responder 1
Chromosome 3 · 3q25.32
NCBI Gene: 5918Ensembl: ENSG00000118849.11HGNC: HGNC:9867UniProt: P49788
49PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular exosomeprotein bindingmetalloendopeptidase inhibitor activityGO:0005615premature birthplacental retentionAbruptio Placentaepathological myopia
✦AI Summary

RARRES1 (retinoic acid receptor responder 1) is a podocyte-enriched transmembrane protein that functions as a regulator of cell death and mitochondrial homeostasis. Primary Function: RARRES1 acts as an inhibitor of the carboxypeptidase AGBL2 and regulates the alpha-tubulin tyrosination cycle 1. Additionally, RARRES1 controls mitochondrial biogenesis by facilitating TFAM degradation through interaction with LONP1 2. Mechanism: RARRES1 expression is upregulated by TNF-α and retinoic acid in podocytes 3. The protein undergoes proteolytic cleavage by matrix metalloproteinase 23 to generate soluble RARRES1 (sRARRES1), which is endocytosed and inhibits RIO kinase 1 (RIOK1), leading to p53 activation and podocyte apoptosis 45. Soluble RARRES1 also directly injures proximal tubular cells, causing vacuolation and lipid accumulation 5. Disease Relevance: RARRES1 expression positively correlates with renal function decline in focal segmental glomerulosclerosis and diabetic kidney disease 4. In renal cell carcinoma, membranous RARRES1 expression associates with favorable prognosis, while cytoplasmic/negative staining indicates elevated relapse risk 1. RARRES1 is downregulated in cutaneous squamous cell carcinoma and serves as a mitochondrial homeostasis regulator 2. RARRES1 is also expressed in sebaceous glands in inflammatory skin diseases 6. Clinical Significance: Podocyte-specific RARRES1 knockdown ameliorates experimentally-induced nephropathy, suggesting therapeutic potential 4. Targeting the RARRES1-LONP1/TFAM axis or MMP23-mediated cleavage may provide novel approaches for treating glomerular diseases and certain cancers.

Sources cited
1
Primary Function: RARRES1 acts as an inhibitor of the carboxypeptidase AGBL2 and regulates the alpha-tubulin tyrosination cycle .
PMID: 32307444
2
Additionally, RARRES1 controls mitochondrial biogenesis by facilitating TFAM degradation through interaction with LONP1 .
PMID: 40074070
3
Mechanism: RARRES1 expression is upregulated by TNF-α and retinoic acid in podocytes .
PMID: 33645319
4
The protein undergoes proteolytic cleavage by matrix metalloproteinase 23 to generate soluble RARRES1 (sRARRES1), which is endocytosed and inhibits RIO kinase 1 (RIOK1), leading to p53 activation and podocyte apoptosis , .
PMID: 38697478
5
The protein undergoes proteolytic cleavage by matrix metalloproteinase 23 to generate soluble RARRES1 (sRARRES1), which is endocytosed and inhibits RIO kinase 1 (RIOK1), leading to p53 activation and podocyte apoptosis , .
PMID: 32634130
6
RARRES1 is also expressed in sebaceous glands in inflammatory skin diseases .
PMID: 38433843
Disease Associationsⓘ20
premature birthOpen Targets
0.35Weak
placental retentionOpen Targets
0.29Weak
Abruptio PlacentaeOpen Targets
0.28Weak
pathological myopiaOpen Targets
0.28Weak
Oral ulcerOpen Targets
0.26Weak
cervical carcinomaOpen Targets
0.23Weak
neoplasmOpen Targets
0.10Suggestive
triple-negative breast cancerOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
infectionOpen Targets
0.07Suggestive
renal cell carcinomaOpen Targets
0.06Suggestive
Juvenile Myelomonocytic LeukemiaOpen Targets
0.06Suggestive
Ewing sarcomaOpen Targets
0.06Suggestive
Acute LeukemiaOpen Targets
0.06Suggestive
acute lymphoblastic leukemiaOpen Targets
0.05Suggestive
acute monocytic leukemiaOpen Targets
0.05Suggestive
acute myeloid leukemiaOpen Targets
0.05Suggestive
T-cell acute lymphoblastic leukemiaOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
POU1F1Shared pathway100%THAP12Shared pathway100%ZBTB7CShared pathway100%TESShared pathway100%CGREF1Shared pathway100%TP53I11Shared pathway100%
Tissue Expression6 tissues
Ovary
100%
Lung
80%
Heart
16%
Liver
11%
Bone Marrow
3%
Brain
2%
Gene Interaction Network
Click a node to explore
RARRES1POU1F1THAP12ZBTB7CTESCGREF1TP53I11
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P49788
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.47LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.09 [0.82–1.47]
RankingsWhere RARRES1 stands among ~20K protein-coding genes
  • #9,007of 20,598
    Most Researched49
  • #15,005of 17,882
    Most Constrained (LOEUF)1.47
Genes detectedRARRES1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Soluble RARRES1 induces podocyte apoptosis to promote glomerular disease progression.
PMID: 32634130
J Clin Invest · 2020
1.00
2
Podocyte-derived soluble RARRES1 drives kidney disease progression through direct podocyte and proximal tubular injury.
PMID: 38697478
Kidney Int · 2024
0.90
3
Spatial transcriptomics reveals altered lipid metabolism and inflammation-related gene expression of sebaceous glands in psoriasis and atopic dermatitis.
PMID: 38433843
Front Immunol · 2024
0.80
4
Autocrine and paracrine effects of a novel podocyte gene, RARRES1.
PMID: 34556297
Kidney Int · 2021
0.70
5
Establishment of an ovarian cancer omentum metastasis-related prognostic model by integrated analysis of scRNA-seq and bulk RNA-seq.
PMID: 36424614
J Ovarian Res · 2022
0.60