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DEPDC5 Gene

protein-coding   GIFtS: 53
GCID: GC22P032149

DEP Domain Containing 5

Pneumococci & Pneumococcal Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
DEP Domain Containing 51 2
FFEVF2 5
KIAA06453 5
DEP.52
DEP Domain-Containing Protein 52

External Ids:    HGNC: 184231   Entrez Gene: 96812   Ensembl: ENSG000001001507   OMIM: 6141915   UniProtKB: O751403   

Export aliases for DEPDC5 gene to outside databases

Previous GC identifers: GC22P030476 GC22P030477 GC22P015105


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DEPDC5 Gene:
This gene encodes a member of the IML1 family of proteins involved in G-protein signaling pathways. The
mechanistic target of rapamycin complex 1 (mTORC1) pathway regulates cell growth by sensing the availability of
nutrients. The protein encoded by this gene is a component of the GATOR1 (GAP activity toward Rags) complex which
inhibits the amino acid-sensing branch of the mTORC1 pathway. Mutations in this gene are associated with
autosomal dominant familial focal epilepsy with variable foci. A single nucleotide polymorphism in an intron of
this gene has been associated with an increased risk of hepatocellular carcinoma in individuals with chronic
hepatitis C virus infection. Alternative splicing results in multiple transcript variants. (provided by RefSeq,
Mar 2014)

GeneCards Summary for DEPDC5 Gene:
DEPDC5 (DEP domain containing 5) is a protein-coding gene. Diseases associated with DEPDC5 include epilepsy, familial focal, with variable foci, and epilepsy, familial temporal lobe, 1. GO annotations related to this gene include GTPase activator activity.

UniProtKB/Swiss-Prot: DEPD5_HUMAN, O75140
Function: As a component of the GATOR1 complex, inhibitor of the amino acid-sensing branch of the TORC1 pathway.
The GATOR1 complex strongly increases GTP hydrolysis by RRAGA and RRAGB within RRAGC-containing heterodimers,
thereby deactivating RRAGs, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000022.11  NT_011520.13  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DEPDC5 gene promoter:
         NF-1   NF-1/L   PPAR-gamma1   Egr-1   PPAR-gamma2   AP-2alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDEPDC5 promoter sequence
   Search Chromatin IP Primers for DEPDC5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DEPDC5


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q12.3   Ensembl cytogenetic band:  22q12.2   HGNC cytogenetic band: 22q12.3

DEPDC5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DEPDC5 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P032149:  view genomic region     (about GC identifiers)

Start:
32,149,937 bp from pter      End:
32,303,020 bp from pter
Size:
153,084 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: DEPD5_HUMAN, O75140 (See protein sequence)
Recommended Name: DEP domain-containing protein 5  
Size: 1603 amino acids; 181264 Da
Subunit: Within the GATOR complex, component of the GATOR1 subcomplex, made of DEPDC5, NPRL2 and NPRL3. GATOR1
mediates the strong interaction of the GATOR complex with RRAGA/RRAGC and RRAGB/RRAGC heterodimers
Sequence caution: Sequence=BAA31620.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=CAH18159.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAI17976.1;
Type=Erroneous initiation; Sequence=CAI18778.1; Type=Erroneous initiation; Sequence=CAI19699.1; Type=Erroneous
initiation;
Secondary accessions: A6H8V6 A8MPX9 B4DH93 B9EGN9 Q5K3V5 Q5THY9 Q5THZ0 Q5THZ1 Q5THZ3 Q68DR1
Q6MZX3 Q6PEZ1 Q9UGV8 Q9UH13
Alternative splicing: 10 isoforms:  O75140-10   O75140-2   O75140-3   O75140-4   O75140-5   O75140-6   O75140-7   O75140-8   
O75140-9   O75140-1   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DEPDC5: NX_O75140

Explore proteomics data for DEPDC5 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys1543
  • Modification sites at PhosphoSitePlus

  • See DEPDC5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001007189.1  NP_001129501.1  NP_001229825.1  NP_001229826.1  NP_055477.1  

    ENSEMBL proteins: 
     ENSP00000416314   ENSP00000405351   ENSP00000383101   ENSP00000371546   ENSP00000371545  
     ENSP00000383107   ENSP00000412057   ENSP00000402173   ENSP00000410544   ENSP00000440210  
     ENSP00000266091   ENSP00000383108   ENSP00000383105   ENSP00000371539   ENSP00000441358  
     ENSP00000446286  

    DEPDC5 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR027244 IML1
     IPR011991 WHTH_DNA-bd_dom
     IPR000591 DEP_dom

    Graphical View of Domain Structure for InterPro Entry O75140

    ProtoNet protein and cluster: O75140

    1 Blocks protein domain: IPB000591 Pleckstrin putative G-protein interacting domain

    UniProtKB/Swiss-Prot: DEPD5_HUMAN, O75140
    Similarity: Belongs to the IML1 family
    Similarity: Contains 1 DEP domain


    DEPDC5 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DEPD5_HUMAN, O75140
    Function: As a component of the GATOR1 complex, inhibitor of the amino acid-sensing branch of the TORC1 pathway.
    The GATOR1 complex strongly increases GTP hydrolysis by RRAGA and RRAGB within RRAGC-containing heterodimers,
    thereby deactivating RRAGs, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005096GTPase activator activity IEA--
         
    DEPDC5 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for DEPDC5:
     Decreased BPV1 E2 protein expr  Decreased number of cells in m  Decreased p24 protein expressi  Increased HPV18 LCR reporter a 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DEPDC5
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    miRNA
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    miRTarBase miRNAs that target DEPDC5:
    hsa-mir-335-5p (MIRT017533), hsa-mir-331-3p (MIRT043372)

    Block miRNA regulation of human, mouse, rat DEPDC5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DEPDC5 (see all 9):
    hsa-miR-323-3p hsa-miR-513b hsa-miR-600 hsa-miR-2115 hsa-miR-532-3p hsa-miR-1224-3p hsa-miR-205* hsa-miR-552
    SwitchGear 3'UTR luciferase reporter plasmidDEPDC5 3' UTR sequence
    Inhib. RNA
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    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DEPDC5


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DEPD5_HUMAN, O75140: Cytoplasm, cytosol (By similarity). Cytoplasm, perinuclear region (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005765lysosomal membrane IDA17897319
    GO:0005829cytosol ISS--
    GO:0048471perinuclear region of cytoplasm ISS--

    DEPDC5 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DEPDC5
    Interactions:

        Search GeneGlobe Interaction Network for DEPDC5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for DEPDC5 (O751403 ENSP000003715464) via UniProtKB, MINT, STRING, and/or I2D (see all 96)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4HP628053, ENSP000002893524I2D: score=5 STRING: ENSP00000289352
    HIST1H4FP628053, ENSP000003669744I2D: score=5 STRING: ENSP00000366974
    HIST1H4AP628053I2D: score=5 
    HIST1H4BP628053I2D: score=5 
    HIST1H4CP628053I2D: score=5 
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0035556intracellular signal transduction IEA--

    DEPDC5 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DEPDC5 (DEPD5)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for DEPDC5 gene (5 alternative transcripts): 
    NM_001007188.2  NM_001136029.2  NM_001242896.1  NM_001242897.1  NM_014662.4  

    Unigene Cluster for DEPDC5:

    DEP domain containing 5
    Hs.435022  [show with all ESTs]
    Unigene Representative Sequence: NM_001242896
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 26):
    ENST00000437411 ENST00000469969 ENST00000456178 ENST00000400242(uc003alr.2)
    ENST00000382112(uc003alt.3 uc010gwk.3) ENST00000382111(uc011alw.1)
    ENST00000400248(uc003alw.3 uc011alx.2 uc011aly.2) ENST00000458532
    ENST00000469974 ENST00000473802 ENST00000448753 ENST00000433147 ENST00000462414
    ENST00000471914 ENST00000494065 ENST00000490731 ENST00000494060 ENST00000479261


    miRNA
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    Block miRNA regulation of human, mouse, rat DEPDC5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DEPDC5 (see all 9):
    hsa-miR-323-3p hsa-miR-513b hsa-miR-600 hsa-miR-2115 hsa-miR-532-3p hsa-miR-1224-3p hsa-miR-205* hsa-miR-552
    SwitchGear 3'UTR luciferase reporter plasmidDEPDC5 3' UTR sequence
    Inhib. RNA
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): DEPDC5 (NM_001007188)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DEPDC5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEPDC5
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DEPDC5
      QuantiTect SYBR Green Assays in human, mouse, rat DEPDC5
      QuantiFast Probe-based Assays in human, mouse, rat DEPDC5

    Additional mRNA sequence: 

    AB014545.1 AJ698950.1 AJ698951.1 AJ704764.1 AK294583.1 AK294987.1 AK299886.1 AK300737.1 
    AK309008.1 AK316364.1 BC057797.1 BC136612.1 BC144291.1 BC146766.1 BX640828.1 CR749304.1 

    15 DOTS entries:

    DT.109298  DT.99927935  DT.120640154  DT.120640151  DT.100716040  DT.91748683  DT.91748685  DT.95110519 
    DT.440524  DT.120640182  DT.102832391  DT.120640152  DT.75179767  DT.87015482  DT.95150106 

    Selected AceView cDNA sequences (see all 83):

    BX640828 AI874200 AL706192 H55269 CB242102 BU675648 AB014545 CA424072 
    BQ879789 BC057797 AI689400 BX956616 AI358529 CD701301 CF137922 BE551932 
    AW027278 CA310381 AW841131 BE244198 BE819044 AW575510 AW603265 AW338163 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DEPDC5 (see all 11)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23a · 23b ^ 24a ·
    SP1:                                                                                                                                      -                     
    SP2:                                                                                                                                      -                     
    SP3:                                                                                                                                      -                 -   
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                        -   

    ExUns: 24b ^ 25 ^ 26a · 26b ^ 27a · 27b · 27c · 27d ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37a · 37b ^ 38 ^ 39a · 39b ^ 40 ^ 41 ^ 42 ^ 43 ^
    SP1:              -           -     -                                                                       -                                                   
    SP2:              -           -     -                                                     -                 -                                                   
    SP3:  -     -                 -     -                                                     -                 -                                                   
    SP4:                                                                                                                                                            
    SP5:  -     -     -           -                                                                             -           -                                       

    ExUns: 44a · 44b ^ 45
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for DEPDC5

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DEPDC5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATGTCCTCG
    DEPDC5 Expression
    About this image

    DEPDC5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DEPDC5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.435022

    UniProtKB/Swiss-Prot: DEPD5_HUMAN, O75140
    Tissue specificity: Expressed in developing and adult brain

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DEPDC5

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for DEPDC5 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Depdc51 , 5 DEP domain containing 51, 5 90.05(n)1
    94.91(a)1
      5 (17.35 cM)5
    2778541  NM_001170567.11  NP_001164038.11 
     328637015 
    chicken
    (Gallus gallus)
    Aves DEPDC51 DEP domain containing 5 81.25(n)
    89.12(a)
      416956  XM_415249.4  XP_415249.4 
    lizard
    (Anolis carolinensis)
    Reptilia DEPDC56
    DEP domain containing 5
    84(a)
    1 ↔ 1
    GL343947.1(1-6712)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ032366.12   -- 74.72(n)    BJ032366.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.32342 Transcribed sequence with moderate similarity to protein pirT00376 (H.sapiens) T00376 KIAA0645 protein - human less 78.53(n)    57052383 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG120901 CG12090 49.98(n)
    42.22(a)
      38176  NM_001274331.1  NP_001261260.1 
    worm
    (Caenorhabditis elegans)
    Secernentea T08A11.16
    Protein T08A11.1 (T08A11.1) mRNA, complete cds
    21(a)
    1 ↔ 1
    III(4248155-4263048) WBGene00011604
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes IML1(YJR138W)4 Subunit of the SEA (Seh1-associated) complex, a coatomer-related complex that associates dynamically with the vacuole; has an N-terminal CDC48-like domain and a C-terminal DEP domain; central region is readily accessible to proteases less   --   10(684567-689321) 853603  NP_012672.1 


    ENSEMBL Gene Tree for DEPDC5 (if available)
    TreeFam Gene Tree for DEPDC5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for DEPDC5 (see all 3281)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0692644
    Epilepsy, familial focal, with variable foci (FFEVF)4--see VAR_0692642 R Q mis40--------
    VAR_0692664
    Epilepsy, familial focal, with variable foci (FFEVF)4--see VAR_0692662 S L mis40--------
    VAR_0692634
    Epilepsy, familial focal, with variable foci (FFEVF)4--see VAR_0692632 A V mis40--------
    VAR_0692654
    Epilepsy, familial focal, with variable foci (FFEVF)4--see VAR_0692652 S R mis40--------
    rs1854743611,2
    --32148199(+) TGTTGC/GAATCC 4 -- us2k10--------
    rs1512711731,2
    --32148291(+) AGGCTC/GAGGCA 4 -- us2k10--------
    rs96213321,2
    C,F--32148300(+) cagaaG/Aaatca 4 -- us2k13Minor allele frequency- A:0.10NA WA 122
    rs1405218971,2
    --32148359(+) CACTGC/TAGCCT 4 -- us2k10--------
    rs602162171,2
    C--32148394(+) GGGGA-/AAAAAA 4 -- us2k10--------
    rs1903313081,2
    --32148450(+) GGAGGC/GCAAGG 4 -- us2k10--------

    HapMap Linkage Disequilibrium report for DEPDC5 (32149937 - 32303020 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for DEPDC5:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2513825CNV Deletion19546169
    esv2724143CNV Deletion23290073
    esv2670901CNV Deletion23128226
    nsv508731CNV Insertion20534489
    esv2575942CNV Insertion19546169
    nsv3595CNV Insertion18451855

    Human Gene Mutation Database (HGMD): DEPDC5
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DEPDC5
    DNA2.0 Custom Variant and Variant Library Synthesis for DEPDC5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 614191   
    OMIM disorders: 604364  
    UniProtKB/Swiss-Prot: DEPD5_HUMAN, O75140
  • Epilepsy, familial focal, with variable foci (FFEVF) [MIM:604364]: An autosomal dominant form of epilepsy
    characterized by focal seizures arising from different cortical regions in different family members. Many
    patients have an aura and show automatisms during the seizures, whereas others may have nocturnal seizures. There
    is often secondary generalization. Some patients show abnormal interictal EEG, and some patients may have
    intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second
    decades, although later onset has been reported, and there is phenotypic variability within families. Penetrance
    of the disorder is incomplete. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Note=Inactivating mutations and truncating deletions in the genes encoding GATOR1 proteins, including
    DEPDC5, are detected in glioblastoma and ovarian tumors and are associated with loss of heterozygosity events.
    Inactivation of GATOR1 proteins promotes constitutive localization of mTORC1 to the lysosomal membrane and blocks
    mTORC1 inactivation following amino acid withdrawal (PubMed:23723238)

  • 12 diseases for DEPDC5:    About MalaCards
    epilepsy, familial focal, with variable foci    epilepsy, familial temporal lobe, 1    epilepsy, nocturnal frontal lobe, 1    focal epilepsy
    hepatitis c virus    hepatitis c    hepatocellular carcinoma    hepatitis
    hiv-1    multiple myeloma    myeloma    malaria


    DEPDC5 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Genetic Association Database (GAD): DEPDC5
    Human Genome Epidemiology (HuGE) Navigator: DEPDC5 (1 document)

    Export disorders for DEPDC5 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for DEPDC5 gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with DEPDC5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations of DEPDC5 cause autosomal dominant focal epilepsies. (PubMed id 23542701)1, 2, 3 Ishida S.... Baulac S. (Nat. Genet. 2013)
    2. Mutations in DEPDC5 cause familial focal epilepsy with variable foci. (PubMed id 23542697)1, 2, 3 Dibbens L.M....Scheffer I.E. (Nat. Genet. 2013)
    3. A Tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1. (PubMed id 23723238)1, 2 Bar-Peled L....Sabatini D.M. (Science 2013)
    4. Genome-wide association study of intelligence: additive effects of novel brain expressed genes. (PubMed id 22449649)1, 4 Loo S.K....Nelson S.F. (J Am Acad Child Adolesc Psychiatry 2012)
    5. Variation in the DEPDC5 locus is associated with progression to hepatocellular carcinoma in chronic hepatitis C virus carriers. (PubMed id 21725309)1, 4 Miki D....Chayama K. (Nat. Genet. 2011)
    6. Complex chromosome 22 rearrangements in astrocytic tumors identified using microsatellite and chromosome 22 tile path array analysis. (PubMed id 15770670)1, 2 Seng T.J.... Collins V.P. (Genes Chromosomes Cancer 2005)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I.... Wright H. (Nature 1999)
    9. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9734811)1, 2 Ishikawa K.... Ohara O. (DNA Res. 1998)
    10. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 9681 HGNC: 18423 AceView: DEPDC5 Ensembl:ENSG00000100150 euGenes: HUgn9681
    ECgene: DEPDC5 H-InvDB: DEPDC5

    (According to HUGE)
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    HUGE: KIAA0645

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for DEPDC5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for DEPDC5 gene:
    Search GeneIP for patents involving DEPDC5

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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