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    depdc5 DEP domain containing 5, GATOR1 subcomplex subunit [ Danio rerio (zebrafish) ]

    Gene ID: 562995, updated on 9-Dec-2024

    Summary

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    Official Symbol
    depdc5provided by ZNC
    Official Full Name
    DEP domain containing 5, GATOR1 subcomplex subunitprovided by ZNC
    Primary source
    ZFIN:ZDB-GENE-091204-356
    See related
    Ensembl:ENSDARG00000078105 AllianceGenome:ZFIN:ZDB-GENE-091204-356
    Gene type
    protein coding
    RefSeq status
    MODEL
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    si:dkey-106l3.5
    Summary
    Predicted to enable GTPase activator activity. Acts upstream of or within several processes, including neuronal action potential propagation; swimming behavior; and thigmotaxis. Predicted to be part of GATOR1 complex. Predicted to be active in lysosomal membrane. Is expressed in central nervous system and notochord. Used to study epilepsy and focal epilepsy. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy and familial focal epilepsy with variable foci 1. Orthologous to human DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    human mouse all
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    Genomic context

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    See depdc5 in Genome Data Viewer
    Location:
    chromosome: 10
    Exon count:
    43
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 10 NC_007121.7 (17171254..17222162, complement)
    105 previous assembly GRCz10 (GCF_000002035.5) 10 NC_007121.6 (17213290..17264174, complement)

    Chromosome 10 - NC_007121.7Genomic Context describing neighboring genes Neighboring gene solute carrier family 5 member 1 Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide Neighboring gene uncharacterized LOC110440068 Neighboring gene RAB36, member RAS oncogene family Neighboring gene guanine nucleotide binding protein (G protein), alpha z polypeptide

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. Behavioral And Physiological Analysis In A Zebrafish Model Of Epilepsy. de Calbiac H, et al. J Vis Exp, 2021 Oct 19. PMID 34747399
    2. Depdc5 knockdown causes mTOR-dependent motor hyperactivity in zebrafish. de Calbiac H, et al. Ann Clin Transl Neurol, 2018 May. PMID 29761115, Free PMC Article
    3. Non-canonical mTOR-Independent Role of DEPDC5 in Regulating GABAergic Network Development. Swaminathan A, et al. Curr Biol, 2018 Jun 18. PMID 29861134
    4. Zebrafish raptor mutation inhibits the activity of mTORC1, inducing craniofacial defects due to autophagy-induced neural crest cell death. Tucker SK, et al. Development, 2024 Mar 15. PMID 38512806,
    5. Hyperactivation of mTORC1 in a double hit mutant zebrafish model of tuberous sclerosis complex causes increased seizure susceptibility and neurodevelopmental abnormalities. De Meulemeester AS, et al. Front Cell Dev Biol, 2022. PMID 36238691, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within neuronal action potential propagation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of neuronal action potential IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within swimming behavior IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within thigmotaxis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    DEP domain-containing protein 5; GATOR1 complex protein DEPDC5

    NCBI Reference Sequences (RefSeq)

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    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007121.7 Reference GRCz11 Primary Assembly

      Range
      17171254..17222162 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_686358.9 → XP_691450.5  GATOR1 complex protein DEPDC5 isoform X3

      UniProtKB/TrEMBL
      A0A8N7UT47, E7EXM8
      Related
      ENSDARP00000098526.3, ENSDART00000111088.4
      Conserved Domains (2) summary
      cd04449
      Location:1173 → 1256
      DEP_DEPDC5-like; DEP (Dishevelled, Egl-10, and Pleckstrin) domain found in DEPDC5-like proteins. DEPDC5, in human also known as KIAA0645, is a DEP domain containing protein of unknown function.
      pfam12257
      Location:111 → 385
      DUF3608; Protein of unknown function (DUF3608)

    2. XM_021479301.2 → XP_021334976.1  GATOR1 complex protein DEPDC5 isoform X2

      UniProtKB/TrEMBL
      A0A8M9QGW7
      Conserved Domains (2) summary
      cd04449
      Location:1175 → 1258
      DEP_DEPDC5-like; DEP (Dishevelled, Egl-10, and Pleckstrin) domain found in DEPDC5-like proteins. DEPDC5, in human also known as KIAA0645, is a DEP domain containing protein of unknown function.
      pfam12257
      Location:111 → 385
      IML1; Vacuolar membrane-associated protein Iml1

    3. XM_021479304.2 → XP_021334979.1  GATOR1 complex protein DEPDC5 isoform X5

      UniProtKB/TrEMBL
      A0A8M9QCD7
      Related
      ENSDARP00000115238.1, ENSDART00000134059.3
      Conserved Domains (2) summary
      cd04449
      Location:1163 → 1246
      DEP_DEPDC5-like; DEP (Dishevelled, Egl-10, and Pleckstrin) domain found in DEPDC5-like proteins. DEPDC5, in human also known as KIAA0645, is a DEP domain containing protein of unknown function.
      pfam12257
      Location:111 → 385
      IML1; Vacuolar membrane-associated protein Iml1

    4. XM_021479302.2 → XP_021334977.1  GATOR1 complex protein DEPDC5 isoform X4

      UniProtKB/TrEMBL
      A0A8M9PTY0
      Conserved Domains (2) summary
      cd04449
      Location:1184 → 1267
      DEP_DEPDC5-like; DEP (Dishevelled, Egl-10, and Pleckstrin) domain found in DEPDC5-like proteins. DEPDC5, in human also known as KIAA0645, is a DEP domain containing protein of unknown function.
      pfam12257
      Location:111 → 385
      IML1; Vacuolar membrane-associated protein Iml1

    5. XM_021479300.2 → XP_021334975.1  GATOR1 complex protein DEPDC5 isoform X1

      UniProtKB/TrEMBL
      A0A8M9QKY4
      Conserved Domains (2) summary
      cd04449
      Location:1184 → 1267
      DEP_DEPDC5-like; DEP (Dishevelled, Egl-10, and Pleckstrin) domain found in DEPDC5-like proteins. DEPDC5, in human also known as KIAA0645, is a DEP domain containing protein of unknown function.
      pfam12257
      Location:111 → 385
      IML1; Vacuolar membrane-associated protein Iml1

    6. XM_068223938.1 → XP_068080039.1  GATOR1 complex protein DEPDC5 isoform X6

      UniProtKB/TrEMBL
      A0A8M9QKY7
    Nucleotide Protein
    Heading Accession and Version

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