DEPTOR

DEP Domain Containing MTOR Interacting Protein

Gene Information Card

Symbol DEPTOR
Full Name DEP domain containing MTOR interacting protein
Gene Type protein-coding
Chromosomal Location 8q24.12
NCBI Gene ID 64798 ncbi.nlm.nih.gov/gene/64798
Ensembl ID ENSG00000146648
UniProt ID Q8TB45
OMIM ID 612974
HGNC ID 22953
Aliases DEP.6, DEPDC6

Description

DEPTOR (DEP domain containing MTOR interacting protein) encodes a protein that binds to mTORC1 and mTORC2 complexes, inhibiting their kinase activity. It plays a critical role in regulating cell growth, proliferation, and survival. DEPTOR expression is frequently dysregulated in various cancers and is involved in the PI3K/AKT/mTOR signaling pathway.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Multiple Myeloma DEPTOR overexpression activates mTOR signaling and promotes tumor growth PMID: 21516109
Prostate Cancer DEPTOR loss leads to mTOR pathway hyperactivation and resistance to therapy PMID: 25624456
Breast Cancer DEPTOR downregulation correlates with poor prognosis and increased AKT signaling PMID: 23558955
Lung Cancer DEPTOR expression is reduced in tumors, contributing to mTORC1 activation PMID: 24043774

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 12.3 Medium
Adipose tissue 8.5 Low
Brain 6.2 Low
Liver 4.1 Low
Kidney 3.8 Low
Cell Line Expression
Cell Line nTPM Notes
HEK293 15.2 High expression
HeLa 10.5 Moderate expression
MCF7 7.8 Low expression
A549 6.3 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G (p.Met1?) missense <0.01% Loss of start codon, likely loss of function
c.100C>T (p.Arg34Trp) missense <0.01% Unknown functional effect
c.200_201del (p.Glu67fs) frameshift <0.01% Predicted loss of function
Mutation functional classification

Loss of Function (LOF)

Frameshift and nonsense mutations that truncate the protein or disrupt the DEP domain are predicted to impair mTOR inhibition.

Gain of Function (GOF)

No confirmed gain-of-function mutations reported in DEPTOR.

Dominant Negative (DN)

No evidence of dominant-negative mutations in DEPTOR.

Pathways

• PI3K-Akt signaling pathway (KEGG: hsa04151)
• mTOR signaling pathway (KEGG: hsa04150)
• Regulation of autophagy (Reactome: R-HSA-163285)

Protein Summary

DEPTOR is a 409-amino acid protein containing an N-terminal DEP domain and a C-terminal PDZ domain. It directly binds to mTOR and inhibits both mTORC1 and mTORC2 complexes. DEPTOR is regulated by ubiquitin-mediated degradation and is involved in feedback loops with AKT. Its expression is tightly controlled and dysregulation contributes to cancer progression.

Related Products

Product name Cat.No. Species Gene ID
DEPTOR Knockout HEK293 Cell Line EDJ-KQ1169 Human 64798 Details Get a Quote
DEPTOR Knockout A-549 Cell Line EDJ-KQ20427 Human 64798 Details Get a Quote
DEPTOR Knockout HCT 116 Cell Line EDJ-KQ20428 Human 64798 Details Get a Quote
DEPTOR Knockout HeLa Cell Line EDJ-KQ20429 Human 64798 Details Get a Quote
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