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GeneE
5 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RELCH
RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing
Chromosome 18 · 18q21.33
NCBI Gene: 57614Ensembl: ENSG00000134444.15HGNC: HGNC:29289UniProt: A0A2R8Y566
43PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
intracellular cholesterol transporttrans-Golgi networkrecycling endosomeGolgi apparatusperipheral vascular diseaseupper respiratory tract disorderinjuryendocrine system disease
✦AI Summary

RELCH (RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing) is a membrane tethering protein that regulates intracellular cholesterol distribution from recycling endosomes to the trans-Golgi network 1. The protein functions by binding to active RAB11-GTP on recycling endosomes and OSBP on Golgi-like membranes, thereby tethering these compartments together 1. RELCH promotes nonvesicular cholesterol transfer between these membrane systems through OSBP-mediated mechanisms 1. In vitro reconstitution studies demonstrated that RELCH depletion impairs cholesterol accumulation at the trans-Golgi network, with cholesterol accumulating instead in late endosomes/lysosomes 1. Beyond its canonical cholesterol transport function, RELCH has been implicated in congenital deafness based on conserved vertebrate brain protein interaction networks 2. The gene has also been identified in fusion events with RET in papillary thyroid carcinoma, where KIAA1468-RET (RELCH-RET) fusions produce aberrant proteins combining RELCH's LisH and coiled-coil domains with RET's tyrosine kinase domain 3. These findings establish RELCH as essential for lipid homeostasis and suggest additional roles in neural development and potential oncogenic contexts.

Sources cited
1
RELCH binds RAB11 and OSBP to mediate nonvesicular cholesterol transport from recycling endosomes to trans-Golgi network through membrane tethering
PMID: 29514919
2
RELCH is implicated in congenital deafness through conserved vertebrate brain protein interactions
PMID: 40501792
3
KIAA1468 (RELCH) forms fusion proteins with RET in papillary thyroid carcinoma, combining LisH and coiled-coil domains with RET tyrosine kinase domain
PMID: 30466862
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
peripheral vascular diseaseOpen Targets
0.26Weak
upper respiratory tract disorderOpen Targets
0.11Weak
injuryOpen Targets
0.11Weak
endocrine system diseaseOpen Targets
0.10Weak
cervical carcinomaOpen Targets
0.06Suggestive
placenta praeviaOpen Targets
0.05Suggestive
hemoglobin D diseaseOpen Targets
0.04Suggestive
hemoglobin E diseaseOpen Targets
0.03Suggestive
X-linked dominant intellectual disability - epilepsy syndromeOpen Targets
0.03Suggestive
attention deficit hyperactivity disorderOpen Targets
0.03Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.03Suggestive
Potocki-Lupski syndromeOpen Targets
0.03Suggestive
dominant beta-thalassemiaOpen Targets
0.03Suggestive
X-linked intellectual disability - psychosis - macroorchidismOpen Targets
0.03Suggestive
X-linked intellectual disability-psychosis-macroorchidism syndromeOpen Targets
0.03Suggestive
tooth diseaseOpen Targets
0.03Suggestive
multinodular goiterOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.02Suggestive
Loss of consciousnessOpen Targets
0.02Suggestive
chronic rhinosinusitis with nasal polypsOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TSPO2Shared pathway50%GRAMD1CShared pathway50%GRAMD1AShared pathway50%SERAC1Shared pathway50%STARD4Shared pathway33%GRAMD1BShared pathway25%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
40%
Brain
39%
Ovary
38%
Lung
38%
Liver
30%
Gene Interaction Network
Click a node to explore
RELCHTSPO2GRAMD1CGRAMD1ASERAC1STARD4GRAMD1B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96ES0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.37Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.23 [0.15–0.37]
RankingsWhere RELCH stands among ~20K protein-coding genes
  • #9,780of 20,598
    Most Researched43
  • #1,719of 17,882
    Most Constrained (LOEUF)0.37 · top 10%
Genes detectedRELCH
Sources retrieved5 papers
Response time—
📄 Sources
5
1
The Rab11-binding protein RELCH/KIAA1468 controls intracellular cholesterol distribution.
PMID: 29514919
J Cell Biol · 2018
1.00
2
VerteBrain reveals novel neural and non-neural protein assemblies conserved across vertebrate evolution.
PMID: 40501792
bioRxiv · 2025
0.80
3
A Novel Oncogenic RET Fusion Variant in NSCLC: RELCH-RET.
PMID: 34561049
J Thorac Oncol · 2021
0.60
4
A Novel Oncogenic RET Fusion Variant in Non-Small Cell Lung Cancer: RELCH-RET.
PMID: 32127187
J Thorac Oncol · 2020
0.40
5
Novel rearrangements involving the RET gene in papillary thyroid carcinoma.
PMID: 30466862
Cancer Genet · 2019
0.20