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

Gene ID: 64798, updated on 24-May-2020

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
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
Expression
Broad expression in thyroid (RPKM 29.3), adrenal (RPKM 13.7) and 17 other tissues See more
Orthologs

Genomic context

See DEPTOR in Genome Data Viewer
Location:
8q24.12
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (119873655..120050918)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (120885900..121063157)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375728 Neighboring gene Sharpr-MPRA regulatory region 238 Neighboring gene RNA, 7SL, cytoplasmic 396, pseudogene Neighboring gene DNA replication and sister chromatid cohesion 1 Neighboring gene HNF1 motif-containing MPRA enhancer 57 Neighboring gene RNA, 5S ribosomal pseudogene 277 Neighboring gene uncharacterized LOC105375730 Neighboring gene collagen type XIV alpha 1 chain

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12341, FLJ12428, FLJ13854, DKFZp564B1778

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
negative regulation of TOR signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell size IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of protein kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of extrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
intracellular IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
DEP domain-containing mTOR-interacting protein
Names
DEP domain containing 6
DEP domain-containing protein 6

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001283012.1NP_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, AP005717
    Consensus CDS
    CCDS64960.1
    UniProtKB/Swiss-Prot
    Q8TB45
    Related
    ENSP00000430457.1, ENST00000523492.5
    Conserved Domains (2) summary
    cd00992
    Location:238302
    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:41116
    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 ...
  2. NM_022783.4NP_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
    Q8TB45
    Related
    ENSP00000286234.5, ENST00000286234.6
    Conserved Domains (3) summary
    cd00992
    Location:339403
    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:133217
    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:36117
    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.

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    119873655..120050918
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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