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 mTOR... See more...

Aliases for DEPDC5 Gene

Aliases for DEPDC5 Gene

  • DEP Domain Containing 5, GATOR1 Subcomplex Subunit 2 3
  • DEP Domain Containing 5 2 3 5
  • DEP Domain-Containing Protein 5 3 4
  • GATOR Complex Protein DEPDC5 3 4
  • KIAA0645 4
  • FFEVF1 3
  • 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, GATOR1 Subcomplex Subunit) is a Protein Coding gene. Diseases associated with DEPDC5 include Epilepsy, Familial Focal, With Variable Foci 1 and Benign Epilepsy With Centrotemporal Spikes. Among its related pathways are mTOR signaling pathway (KEGG). Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is ENSG00000285404.

UniProtKB/Swiss-Prot Summary for DEPDC5 Gene

  • As a component of the GATOR1 complex functions as an 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. The GATOR1 complex is negatively regulated by GATOR2 the other GATOR subcomplex in this amino acid-sensing branch of the TORC1 pathway.

Additional gene information for DEPDC5 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DEPDC5 Gene

Genomics for DEPDC5 Gene

GeneHancer (GH) Regulatory Elements for DEPDC5 Gene

Promoters and enhancers for DEPDC5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J031747 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 -2.4 -2426 8.3 EP300 HNRNPK ZBTB40 ZNF217 TCF12 SIN3A MYC NRF1 POLR2G SP1 DEPDC5 PRR14L TUG1 MORC2 EIF4ENIF1 RNU6-201P SFI1 PISD PIK3IP1 ENSG00000285404
GH22J031870 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 500.1 +118.1 118125 3.6 CTCF FOS REST MYC CTBP1 SMC3 RAD21 MAX FOSL2 ZNF592 DEPDC5 SFI1 YWHAH piR-57133-394 RF00026-678 RNU6-201P ENSG00000285404
GH22J031792 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 500.3 +38.8 38763 0.9 BATF IKZF1 HSF1 NFIC BHLHE40 EGR2 MTA2 IKZF2 PRDM1 RELB DEPDC5 ENSG00000236132 lnc-PRR14L-2 ENSG00000285404 lnc-SFI1-5 RF00017-3815 RN7SL20P
GH22J031906 Promoter 0.4 EPDnew 511.1 +152.8 152817 0.1 EGR2 DEPDC5 piR-50437-435 C22orf24 YWHAH RNU6-201P piR-50437-436 ENSG00000285404
GH22J031802 Promoter 0.4 EPDnew 500.3 +49.0 49017 0.1 GATA1 DEPDC5 ENSG00000236132 lnc-PRR14L-2 ENSG00000285404 RF00017-3815 RN7SL20P lnc-SFI1-5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DEPDC5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DEPDC5

Top Transcription factor binding sites by QIAGEN in the DEPDC5 gene promoter:
  • AP-2alpha
  • Egr-1
  • NF-1
  • NF-1/L
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for DEPDC5 Gene

Genomic Locations for DEPDC5 Gene
chr22:31,753,867-31,908,033
(GRCh38/hg38)
Size:
154,167 bases
Orientation:
Plus strand
chr22:32,149,937-32,303,020
(GRCh37/hg19)
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:
    GATOR complex protein DEPDC5
    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. Interacts (via DEP domain) with KLHL22; the interaction depends on amino acid availability (PubMed:29769719).
    Miscellaneous:
    • [Isoform 6]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    SequenceCaution:
    • Sequence=BAA31620.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=CAG27890.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305}; Sequence=CAH18159.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DEPDC5 Gene

    Alternative splice isoforms for DEPDC5 Gene

neXtProt entry for DEPDC5 Gene

Post-translational modifications for DEPDC5 Gene

  • Ubiquitinated. Amino acid-induced 'Lys-48'-linked polyubiquitination of DEPDC5 by the BCR(KLHL22) ubiquitin ligase complex leads to DEPDC5 proteasomal degradation and inhibition of the GATOR1 complex (PubMed:29769719). Ubiquitination may occur at multiple lysines (PubMed:29769719).
  • Ubiquitination at Lys1574
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DEPDC5 Gene

Domains & Families for DEPDC5 Gene

Gene Families for DEPDC5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for DEPDC5 Gene

Blocks:
  • Pleckstrin putative G-protein interacting domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DEPDC5 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ79263, highly similar to DEP domain-containing protein 5 (B4DGG3_HUMAN)
  • cDNA FLJ61252, highly similar to DEP domain-containing protein 5 (B4DH93_HUMAN)
  • DEPDC5 protein (B9EGN9_HUMAN)
  • DEP domain-containing protein 5 (DEPD5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75140

UniProtKB/Swiss-Prot:

DEPD5_HUMAN :
  • The DEP domain mediates the interaction with KLHL22.
  • Belongs to the IML1 family.
Domain:
  • The DEP domain mediates the interaction with KLHL22.
Family:
  • Belongs to the IML1 family.
genes like me logo Genes that share domains with DEPDC5: view

Function for DEPDC5 Gene

Molecular function for DEPDC5 Gene

UniProtKB/Swiss-Prot Function:
As a component of the GATOR1 complex functions as an 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. The GATOR1 complex is negatively regulated by GATOR2 the other GATOR subcomplex in this amino acid-sensing branch of the TORC1 pathway.

Phenotypes From GWAS Catalog for DEPDC5 Gene

Gene Ontology (GO) - Molecular Function for DEPDC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 contributes_to GTPase activator activity IDA 23723238
GO:0044877 protein-containing complex binding IDA 23723238
genes like me logo Genes that share ontologies with DEPDC5: view
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:
  • Depdc5 Depdc5<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

miRNA for DEPDC5 Gene

miRTarBase miRNAs that target DEPDC5

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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. Lysosome membrane. Note=Localization to lysosomes is amino acid-independent. {ECO:0000269 PubMed:28199306}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DEPDC5 gene
Compartment Confidence
cytosol 5
lysosome 5
nucleus 3
endosome 2
golgi apparatus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for DEPDC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005764 lysosome IDA,IEA 23723238
GO:0005765 lysosomal membrane IBA,IDA 28199306
GO:0005829 cytosol ISS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with DEPDC5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DEPDC5 Gene

Pathways & Interactions for DEPDC5 Gene

PathCards logo

SuperPathways for DEPDC5 Gene

SuperPathway Contained pathways
1 mTOR signaling pathway (KEGG)
genes like me logo Genes that share pathways with DEPDC5: view

Pathways by source for DEPDC5 Gene

1 KEGG pathway for DEPDC5 Gene

Gene Ontology (GO) - Biological Process for DEPDC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032007 negative regulation of TOR signaling IMP 23723238
GO:0034198 cellular response to amino acid starvation IMP 23723238
GO:0035556 intracellular signal transduction IEA --
GO:0043547 positive regulation of GTPase activity IEA --
GO:1904262 negative regulation of TORC1 signaling IMP 25457612
genes like me logo Genes that share ontologies with DEPDC5: view

No data available for SIGNOR curated interactions for DEPDC5 Gene

Drugs & Compounds for DEPDC5 Gene

No Compound Related Data Available

Transcripts for DEPDC5 Gene

mRNA/cDNA for DEPDC5 Gene

13 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
64 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

Expression for DEPDC5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for DEPDC5 Gene



Protein tissue co-expression partners for DEPDC5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DEPDC5

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.

Evidence on tissue expression from TISSUES for DEPDC5 Gene

  • Nervous system(4.4)
  • Liver(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DEPDC5 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with DEPDC5: view

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 31 30
  • 99.43 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DEPDC5 31
  • 94 (a)
OneToOne
LOC521542 30
  • 88.89 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DEPDC5 31
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DEPDC5 31 30
  • 92.38 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Depdc5 17 31 30
  • 90.05 (n)
rat
(Rattus norvegicus)
Mammalia Depdc5 30
  • 89.33 (n)
oppossum
(Monodelphis domestica)
Mammalia DEPDC5 31
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves DEPDC5 31 30
  • 81.25 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DEPDC5 31
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498286 30
  • 73.13 (n)
zebrafish
(Danio rerio)
Actinopterygii depdc5 31 30
  • 70.69 (n)
OneToOne
Dr.3234 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007010 30
  • 51.56 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG12090 31 30
  • 49.98 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea T08A11.1 31
  • 21 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IML1 33 31
  • 18 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.526 31
  • 18 (a)
OneToOne
Species where no ortholog for DEPDC5 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for DEPDC5: view image

Paralogs for DEPDC5 Gene

Paralogs for DEPDC5 Gene

genes like me logo Genes that share paralogs with DEPDC5: view

Variants for DEPDC5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DEPDC5 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
565512 Uncertain Significance: Epilepsy, familial focal, with variable foci 1 31,815,072(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
565527 Uncertain Significance: Epilepsy, familial focal, with variable foci 1 31,897,585(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
565734 Uncertain Significance: Epilepsy, familial focal, with variable foci 1 31,893,731(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
566053 Uncertain Significance: Epilepsy, familial focal, with variable foci 1 31,822,696(+) C/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
566442 Uncertain Significance: Epilepsy, familial focal, with variable foci 1 31,806,165(+) C/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for DEPDC5 Gene

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

Variant ID Type Subtype PubMed ID
esv2513825 CNV deletion 19546169
esv2575942 CNV insertion 19546169
esv2670901 CNV deletion 23128226
esv2724143 CNV deletion 23290073
esv3310448 CNV novel sequence insertion 20981092
esv3328483 CNV duplication 20981092
esv3558070 CNV deletion 23714750
esv3647596 CNV loss 21293372
nsv1060929 CNV loss 25217958
nsv1110864 OTHER inversion 24896259
nsv1139058 CNV deletion 24896259
nsv3595 CNV insertion 18451855
nsv508731 CNV insertion 20534489

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)

Additional Variant Information for DEPDC5 Gene

Human Gene Mutation Database (HGMD)
DEPDC5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEPDC5

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

Disorders for DEPDC5 Gene

MalaCards: The human disease database

(26) MalaCards diseases for DEPDC5 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epilepsy, familial focal, with variable foci 1
  • ffevf1
benign epilepsy with centrotemporal spikes
  • centrotemporal epilepsy
autosomal dominant epilepsy with auditory features
  • epilepsy, lateral temporal lobe, autosomal dominant
autosomal dominant nocturnal frontal lobe epilepsy
  • epilepsy, nocturnal frontal lobe, 1
visual epilepsy
  • epilepsy, visual
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DEPD5_HUMAN
  • Epilepsy, familial focal, with variable foci 1 (FFEVF1) [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, ECO:0000269 PubMed:26505888, ECO:0000269 PubMed:27173016}. 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}.

Additional Disease Information for DEPDC5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 in DEPDC5 cause familial focal epilepsy with variable foci. (PMID: 23542697) Dibbens LM … Scheffer IE (Nature genetics 2013) 2 3 4 54
  2. Mutations of DEPDC5 cause autosomal dominant focal epilepsies. (PMID: 23542701) Ishida S … Baulac S (Nature genetics 2013) 2 3 4 54
  3. KLHL22 activates amino-acid-dependent mTORC1 signalling to promote tumorigenesis and ageing. (PMID: 29769719) Chen J … Liu Y (Nature 2018) 3 4 54
  4. KICSTOR recruits GATOR1 to the lysosome and is necessary for nutrients to regulate mTORC1. (PMID: 28199306) Wolfson RL … Sabatini DM (Nature 2017) 3 4 54
  5. Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia. (PMID: 27173016) Weckhuysen S … Baulac S (Epilepsia 2016) 3 4 54

Products for DEPDC5 Gene

Sources for DEPDC5 Gene