ENSG00000100150


Homo sapiens

Features
Gene ID: ENSG00000100150
  
Biological name :DEPDC5
  
Synonyms : DEPDC5 / DEP domain containing 5 / O75140
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 22
Strand: 1
Band: q12.2
Gene start: 31753867
Gene end: 31908033
  
Corresponding Affymetrix probe sets: 205223_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000494406
Ensembl peptide - ENSP00000383105
Ensembl peptide - ENSP00000383107
Ensembl peptide - ENSP00000383108
Ensembl peptide - ENSP00000402173
Ensembl peptide - ENSP00000405351
Ensembl peptide - ENSP00000410544
Ensembl peptide - ENSP00000412057
Ensembl peptide - ENSP00000416314
Ensembl peptide - ENSP00000440210
Ensembl peptide - ENSP00000493489
Ensembl peptide - ENSP00000494299
Ensembl peptide - ENSP00000494372
Ensembl peptide - ENSP00000494484
Ensembl peptide - ENSP00000494554
Ensembl peptide - ENSP00000494662
Ensembl peptide - ENSP00000494700
Ensembl peptide - ENSP00000494714
Ensembl peptide - ENSP00000494860
Ensembl peptide - ENSP00000494879
Ensembl peptide - ENSP00000495187
Ensembl peptide - ENSP00000495338
Ensembl peptide - ENSP00000495371
Ensembl peptide - ENSP00000495496
Ensembl peptide - ENSP00000495544
Ensembl peptide - ENSP00000495655
Ensembl peptide - ENSP00000495873
Ensembl peptide - ENSP00000495917
Ensembl peptide - ENSP00000496023
Ensembl peptide - ENSP00000496252
Ensembl peptide - ENSP00000496278
Ensembl peptide - ENSP00000496281
Ensembl peptide - ENSP00000496395
Ensembl peptide - ENSP00000496532
Ensembl peptide - ENSP00000496596
Ensembl peptide - ENSP00000496630
Ensembl peptide - ENSP00000496724
Ensembl peptide - ENSP00000371545
Ensembl peptide - ENSP00000371546
Ensembl peptide - ENSP00000383101
NCBI entrez gene - 9681     See in Manteia.
OMIM - 614191
RefSeq - XM_017029111
RefSeq - XM_017029112
RefSeq - XM_017029113
RefSeq - XM_017029114
RefSeq - XM_017029115
RefSeq - XM_017029109
RefSeq - XM_017029110
RefSeq - XM_005261862
RefSeq - XM_011530557
RefSeq - XM_011530558
RefSeq - XM_011530559
RefSeq - XM_011530560
RefSeq - XM_011530561
RefSeq - XM_011530562
RefSeq - XM_011530563
RefSeq - XM_011530565
RefSeq - XM_011530568
RefSeq - XM_011530569
RefSeq - NM_001007188
RefSeq - NM_001136029
RefSeq - NM_001242896
RefSeq - NM_001242897
RefSeq - NM_014662
RefSeq Peptide - NP_001129501
RefSeq Peptide - NP_001229825
RefSeq Peptide - NP_001229826
RefSeq Peptide - NP_055477
RefSeq Peptide - NP_001007189
swissprot - H0Y770
swissprot - O75140
swissprot - H7C1T0
swissprot - H7C3I3
swissprot - C9JGS4
swissprot - F8WAX3
Ensembl - ENSG00000100150
  
Related genetic diseases (OMIM): 604364 - Epilepsy, familial focal, with variable foci 1, 604364
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 depdc5ENSDARG00000078105Danio rerio
 ENSGALG00000006766Gallus gallus
 Depdc5ENSMUSG00000037426Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Z82190.2ENSG0000028540437


Protein motifs (from Interpro)
Interpro ID Name
 IPR000591  DEP domain
 IPR027244  Vacuolar membrane-associated protein Iml1
 IPR036388  Winged helix-like DNA-binding domain superfamily
 IPR036390  Winged helix DNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0010506 regulation of autophagy IBA
 biological_processGO:0032007 negative regulation of TOR signaling IMP
 biological_processGO:0034198 cellular response to amino acid starvation IMP
 biological_processGO:0035556 intracellular signal transduction IEA
 biological_processGO:0043547 positive regulation of GTPase activity IEA
 biological_processGO:1904262 negative regulation of TORC1 signaling IMP
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005765 lysosomal membrane IEA
 cellular_componentGO:0005829 cytosol ISS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm ISS
 cellular_componentGO:1990130 GATOR1 complex IDA
 molecular_functionGO:0005096 GTPase activator activity IDA
 molecular_functionGO:0044877 protein-containing complex binding IDA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000729 Pervasive developmental disorder 
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 HP:0001249 Mental retardation 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0003829 Incomplete penetrance 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr