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Aliases for DEPDC5 Gene

Aliases for DEPDC5 Gene

  • DEP Domain Containing 5 2 3 5
  • KIAA0645 4
  • DEP.5 3
  • FFEVF 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 focal epilepsy. 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

Promoters for DEPDC5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DEPDC5 on UCSC Golden Path with GeneCards custom track

Genomic Location for DEPDC5 Gene

Chromosome:
22
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

Genes around DEPDC5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEPDC5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 1543
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DEPDC5 Gene

Domains & Families for DEPDC5 Gene

Protein Domains for DEPDC5 Gene

Graphical View of Domain Structure for InterPro Entry

O75140

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for DEPDC5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DEPDC5 Gene

MGI Knock Outs for DEPDC5:

Animal Model Products

miRNA for DEPDC5 Gene

miRTarBase miRNAs that target DEPDC5

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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
cytosol 5
lysosome 5
vacuole 5
nucleus 3
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for DEPDC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005765 lysosomal membrane IDA 17897319
GO:1990130 Iml1 complex IDA 23723238
genes like me logo Genes that share ontologies with DEPDC5: view

Pathways & Interactions for DEPDC5 Gene

SuperPathways for DEPDC5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DEPDC5 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for DEPDC5 Gene

Drugs & Compounds for DEPDC5 Gene

No Compound Related Data Available

Transcripts for DEPDC5 Gene

Unigene Clusters for DEPDC5 Gene

DEP domain containing 5:
Representative Sequences:

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

Protein differential expression in normal tissues from HIPED for DEPDC5 Gene

This gene is overexpressed in Bone (20.0), Peripheral blood mononuclear cells (13.6), and Heart (11.2).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with DEPDC5: view

Protein tissue co-expression partners for DEPDC5 Gene

- Elite partner

Primer Products

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
cow
(Bos Taurus)
Mammalia LOC521542 35
  • 88.89 (n)
  • 94.88 (a)
DEPDC5 36
  • 94 (a)
OneToOne
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
chimpanzee
(Pan troglodytes)
Mammalia DEPDC5 35
  • 99.43 (n)
  • 99.75 (a)
DEPDC5 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Depdc5 35
  • 89.33 (n)
  • 94.3 (a)
oppossum
(Monodelphis domestica)
Mammalia DEPDC5 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DEPDC5 36
  • 93 (a)
OneToOne
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)
Dr.3234 35
depdc5 36
  • 74 (a)
OneToOne
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
rs8138516 - 31,815,018(+) TCACA(C/G)TCGAA nc-transcript-variant, reference, missense
rs16989528 - 31,821,553(+) TATGG(C/T)GGAGC intron-variant, nc-transcript-variant, reference, missense
rs16989535 - 31,833,945(+) GGATT(C/T)TCTAG nc-transcript-variant, reference, missense
VAR_069263 Epilepsy, familial focal, with variable foci (FFEVF)
VAR_069264 Epilepsy, familial focal, with variable foci (FFEVF)

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

Variation tolerance for DEPDC5 Gene

Residual Variation Intolerance Score: 6.73% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.83; 73.89% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(8) MalaCards diseases for DEPDC5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epilepsy, familial focal, with variable foci
  • epilepsy, partial, with variable foci
focal epilepsy
  • localisation-related epilepsy
autosomal dominant epilepsy with auditory features
  • adeaf
frontal lobe epilepsy
  • epilepsy frontal lobe
autosomal dominant nocturnal frontal lobe epilepsy
  • epilepsy, nocturnal frontal lobe, 1
- elite association - COSMIC cancer census association via MalaCards

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DEPDC5
genes like me logo Genes that share disorders with DEPDC5: view

No data available for Genatlas for DEPDC5 Gene

Publications for DEPDC5 Gene

  1. Mutations of DEPDC5 cause autosomal dominant focal epilepsies. (PMID: 23542701) Ishida S. … Baulac S. (Nat. Genet. 2013) 2 3 4 67
  2. Mutations in DEPDC5 cause familial focal epilepsy with variable foci. (PMID: 23542697) Dibbens L.M. … Scheffer I.E. (Nat. Genet. 2013) 2 3
  3. Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment. (PMID: 24939585) Fransen E. … Friedman R.A. (Eur. J. Hum. Genet. 2015) 3
  4. Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. (PMID: 25599672) D'Gama A.M. … Poduri A. (Ann. Neurol. 2015) 3
  5. Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations. (PMID: 25623524) Baulac S. … Picard F. (Ann. Neurol. 2015) 3

Products for DEPDC5 Gene

Sources for DEPDC5 Gene

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