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Depdc5 Gene Detail
Summary
  • Symbol
    Depdc5
  • Name
    DEP domain containing 5
  • Feature Type
    protein coding gene
  • IDs
    MGI:2141101
    NCBI Gene: 277854
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:33021045-33151580 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 17.35 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    3525 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2141101
 protein coding gene Chr5:33020996-33151581 (+)
129S1/SvImJ MGP_129S1SvImJ_G0029439
 protein coding gene Chr5:31003661-31144819 (+)
A/J MGP_AJ_G0029406
 protein coding gene Chr5:30005507-30137530 (+)
AKR/J MGP_AKRJ_G0029355
 protein coding gene Chr5:31162966-31298149 (+)
BALB/cJ MGP_BALBcJ_G0029416
 protein coding gene Chr5:30534513-30665815 (+)
C3H/HeJ MGP_C3HHeJ_G0029138
 protein coding gene Chr5:31205821-31342570 (+)
C57BL/6NJ MGP_C57BL6NJ_G0029870
 protein coding gene Chr5:32866028-33009901 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0027107
 protein coding gene Chr5:27813276-27943978 (+)
CAST/EiJ MGP_CASTEiJ_G0028547
 protein coding gene Chr5:30279058-30417972 (+)
CBA/J MGP_CBAJ_G0029106
 protein coding gene Chr5:33550021-33697107 (+)
DBA/2J MGP_DBA2J_G0029254
 protein coding gene Chr5:30193301-30324554 (+)
FVB/NJ MGP_FVBNJ_G0029213
 protein coding gene Chr5:29589112-29732996 (+)
LP/J MGP_LPJ_G0029339
 protein coding gene Chr5:31422540-31563367 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0029243
 protein coding gene Chr5:34416990-34559830 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0029904
 protein coding gene Chr5:30684476-30817829 (+)
PWK/PhJ MGP_PWKPhJ_G0028272
 protein coding gene Chr5:29308880-29442408 (+)
SPRET/EiJ MGP_SPRETEiJ_G0028103
 protein coding gene Chr5:30110057-30256199 (+)
WSB/EiJ MGP_WSBEiJ_G0028628
 protein coding gene Chr5:30736661-30874831 (+)



Homology
more
  • Human Ortholog
    DEPDC5, DEP domain containing 5, GATOR1 subcomplex subunit
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    DEPDC5, DEP domain containing 5, GATOR1 subcomplex subunit
  • Synonyms
    DEE111, DEP.5, FFEVF, FFEVF1, FPEVF
  • Links
    NCBI Gene ID: 9681
    neXtProt AC: NX_O75140
    UniProt: O75140

  • Chr Location
    22q12.2-q12.3; chr22:31753867-31908033 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with human DEPDC5 associations

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    19 phenotypes from 2 alleles in 2 genetic backgrounds
    52 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit preweaning lethality. Mice homozygous for a conditional allele activated in neurons exhibit reduced body weight, limb grasping, premature death, spontaneous seizure, increased brain size due to neuron hypertrophy and increased PTZ seizure susceptibility.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    24
  • GO References
    7
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    716
  • Tissues
    10
  • cDNA Data
    19
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000037426 Ensembl Gene Model | MGI Sequence Detail 130536 C57BL/6J ±  kb
    transcript ENSMUST00000119705 Ensembl | MGI Sequence Detail 7929 Not Applicable  
    polypeptide ENSMUSP00000113862 Ensembl | MGI Sequence Detail 1591 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      17 Sequences
    • Protein Ontology
      PR:000030960 GATOR1 complex protein DEPDC5
      (term hierarchy)
    • InterPro Domains
      IPR045838 DEPDC5, C-terminal
      IPR000591 DEP domain
      IPR027244 Vacuolar membrane-associated protein Iml1
      IPR048255 Vacuolar membrane-associated protein Iml1, N-terminal domain
      IPR036390 Winged helix DNA-binding domain superfamily
      IPR036388 Winged helix-like DNA-binding domain superfamily
    • GlyGen
      P61460 2 sites, 1 O-linked glycan (2 sites)
    Molecular
    Reagents
    less
    • All nucleic 19
      cDNA 19

      Microarray probesets 6
    References
    more
    • Summaries
      All 80
      Developmental Gene Expression 7
      Diseases 1
      Gene Ontology 7
      Phenotypes 52
    • Earliest
      J:5021 Batchelor AL, et al., A comparison of the mutagenic effectiveness of chronic neutron- and gamma-irradiation of mouse spermatogonia. Mutat Res. 1966 Jun;3(3):218-29
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    10/22/2024
    MGI 6.24     		The Jackson Laboratory