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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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REPS1
RALBP1 associated Eps domain containing 1
Chromosome 6 · 6q24.1
NCBI Gene: 85021Ensembl: ENSG00000135597.20HGNC: HGNC:15578UniProt: B2R7D3
70PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
clathrin-coated pitSH3 domain bindingprotein bindingplasma membraneneurodegeneration with brain iron accumulationneurodegeneration with brain iron accumulation 7neurodegenerative diseaseresponse to radiation
✦AI Summary

REPS1 is a vesicle-associated adaptor protein that functions as a convergence point for insulin and exercise signaling pathways, regulating glucose homeostasis and exocytic cargo delivery. Mechanistically, REPS1 coordinates cellular signaling through multiple pathways: it is phosphorylated at Ser709 by RSK kinase downstream of insulin and exercise stimulation 1, and this phosphorylation is essential for insulin-stimulated muscle glucose uptake 1. Additionally, REPS1 functions within a Reps1-Ralbp1-RalA module that regulates cargo exocytosis by recognizing RalA-GTP at vesicles, promoting surface protein delivery through interactions with the exocyst complex 2. REPS1 forms complexes with endocytic adaptor proteins including ITSN1 and SGIP1 in clathrin-coated pits, implicating it in clathrin-mediated endocytosis and transferrin receptor recycling 34. Disease relevance: REPS1 mutations are associated with neurodegeneration with brain iron accumulation (NBIA), a rare inherited neurological disorder affecting iron and lipid metabolism 5. Clinically, REPS1 phosphorylation at Ser709 is closely linked to whole-body insulin sensitivity and is impaired in insulin-resistant individuals, positioning REPS1 as a potential therapeutic target for metabolic disorders 1.

Sources cited
1
REPS1 Ser709 phosphorylation by RSK is involved in insulin-stimulated glucose uptake and serves as a convergence point for insulin and exercise signaling
PMID: 40482643
2
REPS1 functions within a Reps1-Ralbp1-RalA module regulating exocytosis and surface protein levels through RalA-GTP recognition
PMID: 36812304
3
REPS1 forms complexes with ITSN1 and SGIP1 in clathrin-coated pits and participates in endocytic machinery
PMID: 20946875
4
REPS1 Ser709 phosphorylation by RSK regulates transferrin receptor recycling in the endocytic system
PMID: 33407999
5
REPS1 mutations are associated with neurodegeneration with brain iron accumulation (NBIA)
PMID: 39419454
Disease Associationsⓘ21
neurodegeneration with brain iron accumulationOpen Targets
0.59Moderate
neurodegeneration with brain iron accumulation 7Open Targets
0.42Moderate
neurodegenerative diseaseOpen Targets
0.41Moderate
response to radiationOpen Targets
0.33Weak
cardiovascular diseaseOpen Targets
0.08Suggestive
ovarian dysfunctionOpen Targets
0.06Suggestive
Alzheimer diseaseOpen Targets
0.04Suggestive
placental retentionOpen Targets
0.03Suggestive
male reproductive organ cancerOpen Targets
0.03Suggestive
type 2 diabetes mellitusOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
VertigoOpen Targets
0.02Suggestive
Insulin resistanceOpen Targets
0.02Suggestive
diabetes mellitusOpen Targets
0.02Suggestive
vascular dementiaOpen Targets
0.01Suggestive
metabolic diseaseOpen Targets
0.01Suggestive
sexually transmitted diseaseOpen Targets
0.01Suggestive
colorectal carcinomaOpen Targets
0.01Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
colon carcinomaOpen Targets
0.01Suggestive
Neurodegeneration with brain iron accumulation 7UniProt
Pathogenic Variants1
NM_001286611.2(REPS1):c.232G>C (p.Val78Leu)Pathogenic
Neurodegeneration with brain iron accumulation 7
☆☆☆☆2018→ Residue 78
View on ClinVar ↗
Related Genes
BMP2KProtein interaction88%RAB11FIP2Protein interaction82%ADPGKProtein interaction77%AP2B1Protein interaction76%DAB2Protein interaction76%ITSN1Protein interaction76%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
92%
Heart
75%
Liver
67%
Ovary
59%
Lung
38%
Gene Interaction Network
Click a node to explore
REPS1BMP2KRAB11FIP2ADPGKAP2B1DAB2ITSN1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96D71
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.59Moderately Constrained
pLIⓘ
0.17Tolerant
Observed/Expected LoF0.42 [0.30–0.59]
RankingsWhere REPS1 stands among ~20K protein-coding genes
  • #6,752of 20,598
    Most Researched70
  • #4,999of 5,498
    Most Pathogenic Variants1
  • #3,948of 17,882
    Most Constrained (LOEUF)0.59 · top quartile
Genes detectedREPS1
Sources retrieved10 papers
Response time—
📄 Sources
10â–¼
1
Insulin- and exercise-induced phosphoproteomics of human skeletal muscle identify REPS1 as a regulator of muscle glucose uptake.
PMID: 40482643
Cell Rep Med · 2025
1.00
2
Cloning, expression and characterization of a novel human REPS1 gene.
PMID: 11750063
Biochim Biophys Acta · 2001
0.90
3
Regulation of cargo exocytosis by a Reps1-Ralbp1-RalA module.
PMID: 36812304
Sci Adv · 2023
0.80
4
Adenoviral-vectored neoantigen vaccine augments hyperexpanded CD8
PMID: 39694702
J Immunother Cancer · 2024
0.70
5
Identification and characterization of human GUKH2 gene in silico.
PMID: 15010845
Int J Oncol · 2004
0.60