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Aliases for DEPDC5 Gene

Aliases for DEPDC5 Gene

  • DEP Domain Containing 5 2 3
  • KIAA0645 4 6
  • FFEVF 3 6
  • DEP Domain-Containing Protein 5 3
  • DEP.5 3

External Ids for DEPDC5 Gene

Previous GeneCards Identifiers for DEPDC5 Gene

  • GC22P030476
  • GC22P030477
  • GC22P032149
  • GC22P015105

Summaries for DEPDC5 Gene

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 benign epilepsy with centrotemporal spikes. GO annotations related to this gene include GTPase activator activity.

UniProtKB/Swiss-Prot for DEPDC5 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEPDC5 Gene

Genomics for DEPDC5 Gene

Regulatory Elements for DEPDC5 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for DEPDC5 Gene

Start:
31,753,951 bp from pter
End:
31,907,034 bp from pter
Size:
153,084 bases
Orientation:
Plus strand

Genomic View for DEPDC5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DEPDC5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEPDC5 Gene

Proteins for DEPDC5 Gene

  • Protein details for DEPDC5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75140-DEPD5_HUMAN
    Recommended name:
    DEP domain-containing protein 5
    Protein Accession:
    O75140
    Secondary Accessions:
    • A6H8V6
    • A8MPX9
    • B4DH93
    • B9EGN9
    • Q5K3V5
    • Q5THY9
    • Q5THZ0
    • Q5THZ1
    • Q5THZ3
    • Q68DR1
    • Q6MZX3
    • Q6PEZ1
    • Q9UGV8
    • Q9UH13

    Protein attributes for DEPDC5 Gene

    Size:
    1603 amino acids
    Molecular mass:
    181264 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=BAA31620.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAH18159.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAI17976.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI18778.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI19699.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for DEPDC5 Gene

neXtProt entry for DEPDC5 Gene

Proteomics data for DEPDC5 Gene at MOPED

Post-translational modifications for DEPDC5 Gene

  • Ubiquitination at Lys1543
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DEPDC5 Gene

Domains for DEPDC5 Gene

Protein Domains for DEPDC5 Gene

Graphical View of Domain Structure for InterPro Entry

O75140

UniProtKB/Swiss-Prot:

DEPD5_HUMAN :
  • O75140
Domain:
  • Contains 1 DEP domain.
Family:
  • Belongs to the IML1 family.
genes like me logo Genes that share domains with DEPDC5: view

No data available for Gene Families for DEPDC5 Gene

Function for DEPDC5 Gene

Molecular function for DEPDC5 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for DEPDC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA --
genes like me logo Genes that share ontologies with DEPDC5: view
genes like me logo Genes that share phenotypes with DEPDC5: view

Animal Model Products

CRISPR Products

miRNA for DEPDC5 Gene

miRTarBase miRNAs that target DEPDC5

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for DEPDC5 Gene

Localization for DEPDC5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEPDC5 Gene

Cytoplasm, cytosol. Cytoplasm, perinuclear region.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DEPDC5 Gene COMPARTMENTS Subcellular localization image for DEPDC5 gene
Compartment Confidence
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for DEPDC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane IDA 17897319
GO:0005829 cytosol ISS --
GO:0048471 perinuclear region of cytoplasm ISS --
genes like me logo Genes that share ontologies with DEPDC5: view

Pathways for DEPDC5 Gene

SuperPathways for DEPDC5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DEPDC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035556 intracellular signal transduction IEA --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with DEPDC5: view

No data available for Pathways by source for DEPDC5 Gene

Transcripts for DEPDC5 Gene

Unigene Clusters for DEPDC5 Gene

DEP domain containing 5:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DEPDC5

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for DEPDC5

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DEPDC5 Gene

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: -
SP6: - -
SP7:
SP8:
SP9: -
SP10:
SP11:

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: - - - - - -
SP6: - - -
SP7: - -
SP8:
SP9: - - - - -
SP10:
SP11: -

ExUns: 44a · 44b ^ 45
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: - -

Relevant External Links for DEPDC5 Gene

GeneLoc Exon Structure for
DEPDC5
ECgene alternative splicing isoforms for
DEPDC5

Expression for DEPDC5 Gene

mRNA expression in normal human tissues for DEPDC5 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for DEPDC5 Gene

SOURCE GeneReport for Unigene cluster for DEPDC5 Gene Hs.435022

mRNA Expression by UniProt/SwissProt for DEPDC5 Gene

O75140-DEPD5_HUMAN
Tissue specificity: Expressed in developing and adult brain.
genes like me logo Genes that share expressions with DEPDC5: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for DEPDC5 Gene

Orthologs for DEPDC5 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DEPDC5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DEPDC5 35
  • 99.43 (n)
  • 99.75 (a)
DEPDC5 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DEPDC5 36
  • 94 (a)
OneToOne
LOC521542 35
  • 88.89 (n)
  • 94.88 (a)
dog
(Canis familiaris)
Mammalia DEPDC5 35
  • 92.38 (n)
  • 96.5 (a)
DEPDC5 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Depdc5 35
  • 90.05 (n)
  • 94.91 (a)
Depdc5 16
Depdc5 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DEPDC5 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DEPDC5 36
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Depdc5 35
  • 89.33 (n)
  • 94.3 (a)
chicken
(Gallus gallus)
Aves DEPDC5 35
  • 81.25 (n)
  • 89.12 (a)
DEPDC5 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DEPDC5 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498286 35
  • 73.13 (n)
  • 81.62 (a)
zebrafish
(Danio rerio)
Actinopterygii depdc5 35
  • 70.69 (n)
  • 77.48 (a)
depdc5 36
  • 74 (a)
OneToOne
Dr.3234 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007010 35
  • 51.56 (n)
  • 43.96 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG12090 35
  • 49.98 (n)
  • 42.22 (a)
CG12090 36
  • 36 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea T08A11.1 36
  • 21 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IML1 36
  • 18 (a)
OneToOne
IML1 38
sea squirt
(Ciona savignyi)
Ascidiacea CSA.526 36
  • 18 (a)
OneToOne
Species with no ortholog for DEPDC5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DEPDC5 Gene

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

Paralogs for DEPDC5 Gene

No data available for Paralogs for DEPDC5 Gene

Variants for DEPDC5 Gene

Sequence variations from dbSNP and Humsavar for DEPDC5 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs136859 -- 31,839,518(+) CAAGA(-/C)CCCCC intron-variant
rs136860 -- 31,844,727(+) TTTTT(-/TT)GAGAC intron-variant
rs136861 -- 31,851,067(+) GTCTC(-/A)AAAAA intron-variant
rs136862 -- 31,855,832(+) aaaaa(-/A)TTTAA intron-variant
rs136863 -- 31,856,190(+) CACAC(-/AC/ACAC)TTCAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DEPDC5 Gene

Variant ID Type Subtype PubMed ID
nsv3595 CNV Insertion 18451855
esv2724143 CNV Deletion 23290073
esv2670901 CNV Deletion 23128226
esv2513825 CNV Deletion 19546169
nsv508731 CNV Insertion 20534489
esv2575942 CNV Insertion 19546169

Relevant External Links for DEPDC5 Gene

HapMap Linkage Disequilibrium report
DEPDC5
Human Gene Mutation Database (HGMD)
DEPDC5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEPDC5 Gene

Disorders for DEPDC5 Gene

(1) OMIM Diseases for DEPDC5 Gene (614191)

UniProtKB/Swiss-Prot

DEPD5_HUMAN
  • 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. {ECO:0000269 PubMed:23542697, ECO:0000269 PubMed:23542701, ECO:0000269 PubMed:24283814, ECO:0000269 PubMed:24591017, ECO:0000269 PubMed:25366275}. 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). {ECO:0000269 PubMed:23723238}.

Relevant External Links for DEPDC5

Genetic Association Database (GAD)
DEPDC5
Human Genome Epidemiology (HuGE) Navigator
DEPDC5
genes like me logo Genes that share disorders with DEPDC5: view

Publications for DEPDC5 Gene

  1. Mutations in DEPDC5 cause familial focal epilepsy with variable foci. (PMID: 23542697) Dibbens L.M. … Scheffer I.E. (Nat. Genet. 2013) 2 3 4
  2. Mutations of DEPDC5 cause autosomal dominant focal epilepsies. (PMID: 23542701) Ishida S. … Baulac S. (Nat. Genet. 2013) 2 3 4
  3. A Tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1. (PMID: 23723238) Bar-Peled L. … Sabatini D.M. (Science 2013) 3 4
  4. Variation in the DEPDC5 locus is associated with progression to hepatocellular carcinoma in chronic hepatitis C virus carriers. (PMID: 21725309) Miki D. … Chayama K. (Nat. Genet. 2011) 3 48
  5. Genome-wide association study of intelligence: additive effects of novel brain expressed genes. (PMID: 22449649) Loo S.K. … Nelson S.F. (J Am Acad Child Adolesc Psychiatry 2012) 3 48

Products for DEPDC5 Gene

Sources for DEPDC5 Gene

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