RAPTOR Gene

RAPTOR Gene

Gene Overview

<div class="infobox infobox-gene"> [@mtorc2020]
<table> [@raptor2019]
<tr><th colspan="2" style="background:#e8f4ea;"><b>RAPTOR</b></th></tr> [@mtorc2018]
<tr><td><b>Full Name</b></td><td>Regulatory Associated Protein of mTORC1</td></tr> [@raptor2019a]
<tr><td><b>Chromosomal Location</b></td><td>17q1.32</td></tr> [@autophagy2017]
<tr><td><b>NCBI Gene ID</b></td><td>[2004](https://www.ncbi.nlm.nih.gov/gene/2004)</td></tr> [@mtorc2018a]
<tr><td><b>OMIM</b></td><td>[607333](https://www.omim.org/entry/607333)</td></tr> [@therapeutic2021]
<tr><td><b>Ensembl ID</b></td><td>ENSG00000141551</td></tr> [@raptor2016]
<tr><td><b>UniProt</b></td><td>[Q8N122](https://www.uniprot.org/uniprot/Q8N122)</td></tr> [@nutrient2020]
<tr><td><b>Associated Diseases</b></td><td>Huntington's Disease, Alzheimer's Disease, Parkinson's Disease, Amyotrophic Lateral Sclerosis</td></tr> [@mtor2019]
</table>
</div>

Overview

RAPTOR Gene

Gene Overview

<div class="infobox infobox-gene"> [@mtorc2020]
<table> [@raptor2019]
<tr><th colspan="2" style="background:#e8f4ea;"><b>RAPTOR</b></th></tr> [@mtorc2018]
<tr><td><b>Full Name</b></td><td>Regulatory Associated Protein of mTORC1</td></tr> [@raptor2019a]
<tr><td><b>Chromosomal Location</b></td><td>17q1.32</td></tr> [@autophagy2017]
<tr><td><b>NCBI Gene ID</b></td><td>[2004](https://www.ncbi.nlm.nih.gov/gene/2004)</td></tr> [@mtorc2018a]
<tr><td><b>OMIM</b></td><td>[607333](https://www.omim.org/entry/607333)</td></tr> [@therapeutic2021]
<tr><td><b>Ensembl ID</b></td><td>ENSG00000141551</td></tr> [@raptor2016]
<tr><td><b>UniProt</b></td><td>[Q8N122](https://www.uniprot.org/uniprot/Q8N122)</td></tr> [@nutrient2020]
<tr><td><b>Associated Diseases</b></td><td>Huntington's Disease, Alzheimer's Disease, Parkinson's Disease, Amyotrophic Lateral Sclerosis</td></tr> [@mtor2019]
</table>
</div>

Overview

RICTOR is a human gene whose product rAPTOR (Regulatory-Associated Protein of mTOR) is an essential component of [mTOR](/mechanisms/mtor-signaling-pathway) Complex 1 (mTORC1), serving as a scaffolding protein that recruits substrates to the mTOR kinase. RAPTOR directly binds to mTOR through its HEAT repeat domain and interacts with 4E-BP1 and S6K1 to facilitate their phosphorylation. Variants in RICTOR have been implicated in Neurodegenerative Diseases, Other Conditions. This page covers the gene's normal function, disease associations, expression patterns, and key research findings relevant to neurodegeneration.

Function

RAPTOR (Regulatory-Associated Protein of mTOR) is an essential component of mTOR Complex 1 (mTORC1), serving as a scaffolding protein that recruits substrates to the mTOR kinase. RAPTOR directly binds to mTOR through its HEAT repeat domain and interacts with 4E-BP1 and S6K1 to facilitate their phosphorylation.

Key functions include:

• Substrate recognition and recruitment for mTORC1
• Integration of nutrient, energy, and growth factor signals
• Regulation of [autophagy](/entities/autophagy) through ULK1 complex
• Control of protein synthesis via S6K1 and 4E-BP1
• Regulation of lysosomal biogenesis and function

Disease Associations

Neurodegenerative Diseases

Huntington's Disease:

• mTORC1 signaling is dysregulated in HD
• RAPTOR-mediated autophagy is impaired in HD
• Genetic variants may modify HD progression

• mTOR hyperactivation contributes to [Aβ](/proteins/amyloid-beta) and [tau](/proteins/tau) pathology
• RAPTOR regulates tau phosphorylation and aggregation
• Impaired autophagy contributes to AD pathogenesis

• mTORC1 regulates [α-synuclein](/proteins/alpha-synuclein) clearance
• RAPTOR-mediated mitophagy is relevant to PD
• Autophagy-lysosomal pathway dysfunction in PD

• mTORC1 signaling altered in ALS motor [neurons](/entities/neurons)
• RAPTOR variants may influence ALS risk
• Autophagy impairment in ALS pathogenesis

Other Conditions

• Ribosomopathy syndrome (mTORC1 dysregulation)
• Cancer (proliferation signaling)

Expression

RAPTOR is widely expressed in the nervous system:

• High expression: Cerebral [cortex](/brain-regions/cortex), [hippocampus](/brain-regions/hippocampus), basal forebrain
• Moderate expression: Cerebellum, brainstem, spinal cord
• Cellular localization: Cytoplasmic, associated with lysosomal membranes

Therapeutic Implications

• mTORC1 inhibitors (rapamycin, everolimus) may reduce neurodegeneration
• RAPTOR-specific modulators in development
• Combination approaches targeting autophagy induction
• Caution needed due to complex mTOR biology

See Also

• MTOR Gene
• [mTOR Signaling Pathway](/mechanisms/mtor-signaling-pathway)
• [Autophagy Pathway](/mechanisms/autophagy-lysosome-neurodegeneration)
• [Huntington's Disease](/diseases/huntingtons-disease)
• [Alzheimer's Disease](/diseases/alzheimers-disease)
• [RICTOR](/genes/rictor)
• [ULK1](/proteins/ulk1)
• 4E-BP1

External Links

• [NCBI Gene: RAPTOR](https://www.ncbi.nlm.nih.gov/gene/2004)
• [UniProt: Q8N122](https://www.uniprot.org/uniprot/Q8N122)
• [Ensembl: ENSG00000141551](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000141551)
• [GeneCards: RAPTOR](https://www.genecards.org/cgi-bin/carddisp.pl?gene=RAPTOR)

References

Pathway Diagram

The following diagram shows the key molecular relationships involving RAPTOR Gene discovered through SciDEX knowledge graph analysis: