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

    Gene ID: 64798, updated on 5-Mar-2024

    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
    Involved in several processes, including negative regulation of TOR signaling; negative regulation of cell size; and negative regulation of protein kinase activity. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in thyroid (RPKM 29.3), adrenal (RPKM 13.7) and 17 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DEPTOR in Genome Data Viewer
    Location:
    8q24.12
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (119873722..120050918)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (121002533..121179716)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (120885962..121063157)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375728 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27844 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19483 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:120879869-120880370 Neighboring gene Sharpr-MPRA regulatory region 238 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:120886325-120886825 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 ATAC-STARR-seq lymphoblastoid silent region 19484 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27848 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:120983071-120983251 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:121059845-121060704 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:121060705-121061564 Neighboring gene uncharacterized LOC105375730 Neighboring gene MPRA-validated peak7153 silencer Neighboring gene collagen type XIV alpha 1 chain Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:121250945-121251444 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:121278472-121279056

    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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    Component Evidence Code Pubs
    is_active_in lysosomal membrane IDA
    Inferred from Direct Assay
    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)

    NEW Try the new Transcript table

    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_001283012.2NP_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: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
      B2RCL9, B4DN97, E7EV87, Q8TB45, Q96EQ1, Q9H0R7, Q9H894, Q9HA07
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      119873722..120050918
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      121002533..121179716
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)