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

    Gene ID: 64798, updated on 21-Apr-2019

    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:
    10
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (119873655..120056202)
    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 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 FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

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

    Pathways from BioSystems

    • Autophagy - animal, organism-specific biosystem (from KEGG)
      Autophagy - animal, organism-specific biosystemAutophagy (or macroautophagy) is a cellular catabolic pathway involving in protein degradation, organelle turnover, and non-selective breakdown of cytoplasmic components, which is evolutionarily cons...
    • Autophagy - animal, conserved biosystem (from KEGG)
      Autophagy - animal, conserved biosystemAutophagy (or macroautophagy) is a cellular catabolic pathway involving in protein degradation, organelle turnover, and non-selective breakdown of cytoplasmic components, which is evolutionarily cons...
    • Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met), organism-specific biosystem (from Pathway Interaction Database)
      Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met), organism-specific biosystem
      Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)
    • mTOR signaling pathway, organism-specific biosystem (from KEGG)
      mTOR signaling pathway, organism-specific biosystemThe mammalian (mechanistic) target of rapamycin (mTOR) is a highly conserved serine/threonine protein kinase, which exists in two complexes termed mTOR complex 1 (mTORC1) and 2 (mTORC2). mTORC1 conta...
    • mTOR signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      mTOR signaling pathway, organism-specific biosystem
      mTOR signaling pathway
    • mTOR signaling pathway, conserved biosystem (from KEGG)
      mTOR signaling pathway, conserved biosystemThe mammalian (mechanistic) target of rapamycin (mTOR) is a highly conserved serine/threonine protein kinase, which exists in two complexes termed mTOR complex 1 (mTORC1) and 2 (mTORC2). mTORC1 conta...

    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 

    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 Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

      Range
      119873655..120056202
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017013735.1XP_016869224.1  DEP domain-containing mTOR-interacting protein isoform X1

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