DEPTOR DEP domain containing MTOR interacting protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: DEPTORprovided by HGNC
Official Full Name: DEP domain containing MTOR interacting proteinprovided by HGNC
Primary source: HGNC:HGNC:22953
See related: Ensembl:ENSG00000155792 MIM:612974; AllianceGenome:HGNC:22953
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DEP.6; DEPDC6; hDEPTOR
Summary: Enables phosphatidic acid binding activity and protein serine/threonine kinase inhibitor activity. Involved in several processes, including negative regulation of TOR signaling; negative regulation of cell size; and negative regulation of protein kinase activity. Is active in lysosomal membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in thyroid (RPKM 29.3), adrenal (RPKM 13.7) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q24.12

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (119873722..120050918)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (121002533..121179716)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (120885962..121063157)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PUM1 Promotes Tumor Progression by Activating DEPTOR-Meditated Glycolysis in Gastric Cancer.
Title: PUM1 Promotes Tumor Progression by Activating DEPTOR-Meditated Glycolysis in Gastric Cancer.
DEPTOR as a novel prognostic marker inhibits the proliferation via deactivating mTOR signaling pathway in gastric cancer cells.
Title: DEPTOR as a novel prognostic marker inhibits the proliferation via deactivating mTOR signaling pathway in gastric cancer cells.
The UBE2C/CDH1/DEPTOR axis is an oncogene and tumor suppressor cascade in lung cancer cells.
Title: The UBE2C/CDH1/DEPTOR axis is an oncogene and tumor suppressor cascade in lung cancer cells.
DFNA5 inhibits colorectal cancer proliferation by suppressing the mTORC1/2 signaling pathways via upregulation of DEPTOR.
Title: DFNA5 inhibits colorectal cancer proliferation by suppressing the mTORC1/2 signaling pathways via upregulation of DEPTOR.
Turnover of the mTOR inhibitor, DEPTOR, and downstream AKT phosphorylation in multiple myeloma cells, is dependent on ERK1-mediated phosphorylation.
Title: Turnover of the mTOR inhibitor, DEPTOR, and downstream AKT phosphorylation in multiple myeloma cells, is dependent on ERK1-mediated phosphorylation.
Neddylation inhibition ameliorates steatosis in NAFLD by boosting hepatic fatty acid oxidation via the DEPTOR-mTOR axis.
Title: Neddylation inhibition ameliorates steatosis in NAFLD by boosting hepatic fatty acid oxidation via the DEPTOR-mTOR axis.
Deubiquitinase OTUD5 is a positive regulator of mTORC1 and mTORC2 signaling pathways.
Title: Deubiquitinase OTUD5 is a positive regulator of mTORC1 and mTORC2 signaling pathways.
DEPTOR inhibits lung tumorigenesis by inactivating the EGFR-mTOR signals.
Title: DEPTOR inhibits lung tumorigenesis by inactivating the EGFR-mTOR signals.
Tyrosine phosphorylation of DEPTOR functions as a molecular switch to activate mTOR signaling.
Title: Tyrosine phosphorylation of DEPTOR functions as a molecular switch to activate mTOR signaling.
Regulation of human mTOR complexes by DEPTOR.
Title: Regulation of human mTOR complexes by DEPTOR.

Submit: New GeneRIF Correction See all GeneRIFs (69)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-154090 (e-PCR)
- UniSTS:177977

D8S323 (e-PCR)
- UniSTS:24471

RH45620 (e-PCR)
- UniSTS:70825

RH48017 (e-PCR)
- UniSTS:51426

RH91937 (e-PCR)
- UniSTS:91627

Clone Names

FLJ12341, FLJ12428, FLJ13854, DKFZp564B1778

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables phosphatidic acid binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein serine/threonine kinase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in intracellular signal transduction	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of TOR signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of TORC1 signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of TORC1 signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of TORC1 signaling	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of TORC2 signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of TORC2 signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of TORC2 signaling	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of cell size	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of autophagy	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of extrinsic apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: DEP domain-containing mTOR-interacting protein

Names: DEP domain containing 6; DEP domain-containing protein 6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001283012.2 → NP_001269941.1 DEP domain-containing mTOR-interacting protein isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks two in-frame exons in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC091563, AK297822

Consensus CDS

CCDS64960.1

UniProtKB/Swiss-Prot

Q8TB45

Related

ENSP00000430457.1, ENST00000523492.5

Conserved Domains (2) summary

cd00992
Location:238 → 302

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cl02442
Location:41 → 116

DEP; DEP domain, named after Dishevelled, Egl-10, and Pleckstrin, where this domain was first discovered. The function of this domain is still not clear, but it is believed to be important for the membrane association of the signaling proteins in which it is ...
NM_022783.4 → NP_073620.2 DEP domain-containing mTOR-interacting protein isoform 1

See identical proteins and their annotated locations for NP_073620.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1)

Source sequence(s)

AC091563, AK023916, AP005717

Consensus CDS

CCDS6331.1

UniProtKB/Swiss-Prot

B2RCL9, B4DN97, E7EV87, Q8TB45, Q96EQ1, Q9H0R7, Q9H894, Q9HA07

Related

ENSP00000286234.5, ENST00000286234.6

Conserved Domains (3) summary

cd00992
Location:339 → 403

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd04441
Location:133 → 217

DEP_2_DEP6; DEP (Dishevelled, Egl-10, and Pleckstrin) domain 2 found in DEP6-like proteins. DEP6 proteins contain two DEP and a PDZ domain. Their function is unknown.

cd04442
Location:36 → 117

DEP_1_DEP6; DEP (Dishevelled, Egl-10, and Pleckstrin) domain 1 found in DEP6-like proteins. DEP6 proteins contain two DEP and a PDZ domain. Their function is unknown.