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Depdc5 DEP domain containing 5 [ Mus musculus (house mouse) ]

Gene ID: 277854, updated on 28-Oct-2024

Summary

Official Symbol
Depdc5provided by MGI
Official Full Name
DEP domain containing 5provided by MGI
Primary source
MGI:MGI:2141101
See related
Ensembl:ENSMUSG00000037426 AllianceGenome:MGI:2141101
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary
Predicted to enable small GTPase binding activity. Predicted to be involved in cellular response to amino acid starvation; negative regulation of TORC1 signaling; and positive regulation of autophagy. Located in cytosol and perinuclear region of cytoplasm. Is expressed in branchial arch; genitourinary system; limb; and peripheral nervous system. 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, Oct 2024]
Expression
Ubiquitous expression in cerebellum adult (RPKM 5.6), whole brain E14.5 (RPKM 5.6) and 28 other tissues See more
Orthologs
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Genomic context

See Depdc5 in Genome Data Viewer
Location:
5 B1; 5 17.35 cM
Exon count:
46
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (33020996..33151581)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (32863646..32994233)

Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene predicted gene 2420 Neighboring gene STARR-seq mESC enhancer starr_12804 Neighboring gene phosphatidylserine decarboxylase Neighboring gene STARR-positive B cell enhancer ABC_E4751 Neighboring gene proline rich 14-like Neighboring gene STARR-positive B cell enhancer ABC_E10312 Neighboring gene ribosomal protein L37 pseudogene Neighboring gene predicted gene, 24003 Neighboring gene STARR-seq mESC enhancer starr_12808 Neighboring gene STARR-seq mESC enhancer starr_12809 Neighboring gene STARR-seq mESC enhancer starr_12810 Neighboring gene STARR-seq mESC enhancer starr_12813 Neighboring gene predicted gene, 57845 Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide Neighboring gene predicted gene, 29892

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Chemically induced (ENU) (2) 
  • Endonuclease-mediated (5)  1 citation
  • Targeted (3) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • KIAA0645

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables GTPase activator activity IEA
Inferred from Electronic Annotation
more info
 
enables protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
enables protein-containing complex binding ISO
Inferred from Sequence Orthology
more info
 
enables small GTPase binding ISO
Inferred from Sequence Orthology
more info
 
enables small GTPase binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in cellular response to amino acid starvation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cellular response to amino acid starvation ISO
Inferred from Sequence Orthology
more info
 
involved_in cellular response to amino acid starvation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of TORC1 signaling IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in negative regulation of TORC1 signaling ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of TORC1 signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of autophagy IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
part_of Cul3-RING ubiquitin ligase complex ISO
Inferred from Sequence Orthology
more info
 
part_of Cul3-RING ubiquitin ligase complex ISS
Inferred from Sequence or Structural Similarity
more info
 
part_of GATOR1 complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of GATOR1 complex ISO
Inferred from Sequence Orthology
more info
 
part_of GATOR1 complex ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in lysosomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in lysosomal membrane ISO
Inferred from Sequence Orthology
more info
 
is_active_in lysosomal membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in lysosome ISO
Inferred from Sequence Orthology
more info
 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001025426.3NP_001020597.1  GATOR1 complex protein DEPDC5 isoform 1

    See identical proteins and their annotated locations for NP_001020597.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.
    Source sequence(s)
    AC108773, AC122203
    Consensus CDS
    CCDS19196.1
    UniProtKB/TrEMBL
    Q6GQV2
    Related
    ENSMUSP00000085207.5, ENSMUST00000087897.11
    Conserved Domains (2) summary
    cd04449
    Location:11761257
    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:101381
    IML1; Vacuolar membrane-associated protein Iml1
  2. NM_001170567.2NP_001164038.1  GATOR1 complex protein DEPDC5 isoform 3

    See identical proteins and their annotated locations for NP_001164038.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, uses an alternate in-frame splice site and includes an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is longer than isoform 1.
    Source sequence(s)
    AC108773, AC122203
    Consensus CDS
    CCDS51463.1
    UniProtKB/Swiss-Prot
    E9Q5J2, E9Q5Y0, P61460
    Related
    ENSMUSP00000113862.2, ENSMUST00000119705.8
    Conserved Domains (2) summary
    cd04449
    Location:11671248
    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:101381
    IML1; Vacuolar membrane-associated protein Iml1
  3. NM_001360014.2NP_001346943.1  GATOR1 complex protein DEPDC5 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' and 3' UTRs and lacks three alternate exons compared to variant 1. The resulting isoform (4) is shorter at the N-terminus, has a shorter and distinct C-terminus, and lacks an alternate internal segment compared to isoform 1.
    Source sequence(s)
    AC108773, AC122203
    Conserved Domains (2) summary
    cd04449
    Location:9761057
    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:1212
    IML1; Vacuolar membrane-associated protein Iml1
  4. NM_001404313.1NP_001391242.1  GATOR1 complex protein DEPDC5 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC108773, AC122203
    UniProtKB/Swiss-Prot
    E9Q5J2, E9Q5Y0, P61460
  5. NM_001404314.1NP_001391243.1  GATOR1 complex protein DEPDC5 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC108773, AC122203
    UniProtKB/TrEMBL
    Q6GQV2
  6. NM_001404315.1NP_001391244.1  GATOR1 complex protein DEPDC5 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC108773, AC122203
  7. NM_001404316.1NP_001391245.1  GATOR1 complex protein DEPDC5 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC108773, AC122203
  8. NM_001404317.1NP_001391246.1  GATOR1 complex protein DEPDC5 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC108773, AC122203
  9. NM_001404318.1NP_001391247.1  GATOR1 complex protein DEPDC5 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC108773, AC122203
  10. NM_001404319.1NP_001391248.1  GATOR1 complex protein DEPDC5 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC108773, AC122203
  11. NM_001404320.1NP_001391249.1  GATOR1 complex protein DEPDC5 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC108773, AC122203
    Related
    ENSMUSP00000113980.2, ENSMUST00000120902.8
  12. NM_001404332.1NP_001391261.1  GATOR1 complex protein DEPDC5 isoform 9

    Status: VALIDATED

    Source sequence(s)
    AC108773, AC122203
  13. NM_001404333.1NP_001391262.1  GATOR1 complex protein DEPDC5 isoform 9

    Status: VALIDATED

    Source sequence(s)
    AC108773, AC122203
  14. NM_001404334.1NP_001391263.1  GATOR1 complex protein DEPDC5 isoform 10

    Status: VALIDATED

    Source sequence(s)
    AC108773, AC122203
  15. NM_001404335.1NP_001391264.1  GATOR1 complex protein DEPDC5 isoform 11

    Status: VALIDATED

    Source sequence(s)
    AC108773, AC122203
  16. NM_001404336.1NP_001391265.1  GATOR1 complex protein DEPDC5 isoform 11

    Status: VALIDATED

    Source sequence(s)
    AC108773, AC122203
  17. NM_177786.5NP_808454.2  GATOR1 complex protein DEPDC5 isoform 2

    See identical proteins and their annotated locations for NP_808454.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, 3' UTR, and coding region, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC108773, AC122203
    Consensus CDS
    CCDS19197.1
    UniProtKB/TrEMBL
    E9QAT3, Q8BVE2
    Related
    ENSMUSP00000052807.7, ENSMUST00000049780.13
    Conserved Domains (1) summary
    pfam12257
    Location:107381
    DUF3608; Protein of unknown function (DUF3608)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    33020996..33151581
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006503980.4XP_006504043.1  GATOR1 complex protein DEPDC5 isoform X1

    See identical proteins and their annotated locations for XP_006504043.1

    Conserved Domains (2) summary
    cd04449
    Location:11761257
    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:101381
    IML1; Vacuolar membrane-associated protein Iml1
  2. XM_030254553.1XP_030110413.1  GATOR1 complex protein DEPDC5 isoform X8

    Conserved Domains (2) summary
    cd04449
    Location:10071088
    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:1212
    IML1; Vacuolar membrane-associated protein Iml1
  3. XM_030254550.1XP_030110410.1  GATOR1 complex protein DEPDC5 isoform X2

    UniProtKB/Swiss-Prot
    E9Q5J2, E9Q5Y0, P61460
    Conserved Domains (2) summary
    cd04449
    Location:11671248
    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:101381
    IML1; Vacuolar membrane-associated protein Iml1
  4. XM_030254554.2XP_030110414.1  GATOR1 complex protein DEPDC5 isoform X8

    Conserved Domains (2) summary
    cd04449
    Location:10071088
    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:1212
    IML1; Vacuolar membrane-associated protein Iml1
  5. XM_006503978.4XP_006504041.1  GATOR1 complex protein DEPDC5 isoform X1

    See identical proteins and their annotated locations for XP_006504041.1

    Conserved Domains (2) summary
    cd04449
    Location:11761257
    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:101381
    IML1; Vacuolar membrane-associated protein Iml1
  6. XM_006503985.4XP_006504048.1  GATOR1 complex protein DEPDC5 isoform X3

    Conserved Domains (2) summary
    cd04449
    Location:11541235
    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:101381
    IML1; Vacuolar membrane-associated protein Iml1
  7. XM_006503984.4XP_006504047.1  GATOR1 complex protein DEPDC5 isoform X2

    See identical proteins and their annotated locations for XP_006504047.1

    UniProtKB/Swiss-Prot
    E9Q5J2, E9Q5Y0, P61460
    Conserved Domains (2) summary
    cd04449
    Location:11671248
    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:101381
    IML1; Vacuolar membrane-associated protein Iml1
  8. XM_006503987.4XP_006504050.1  GATOR1 complex protein DEPDC5 isoform X5

    UniProtKB/Swiss-Prot
    P61460
    Conserved Domains (2) summary
    cd04449
    Location:11451226
    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:101381
    IML1; Vacuolar membrane-associated protein Iml1
  9. XM_006503986.4XP_006504049.1  GATOR1 complex protein DEPDC5 isoform X4

    Conserved Domains (2) summary
    cd04449
    Location:11541235
    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:101381
    IML1; Vacuolar membrane-associated protein Iml1
  10. XM_006503979.4XP_006504042.1  GATOR1 complex protein DEPDC5 isoform X1

    See identical proteins and their annotated locations for XP_006504042.1

    Conserved Domains (2) summary
    cd04449
    Location:11761257
    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:101381
    IML1; Vacuolar membrane-associated protein Iml1
  11. XM_006503982.4XP_006504045.1  GATOR1 complex protein DEPDC5 isoform X1

    See identical proteins and their annotated locations for XP_006504045.1

    Conserved Domains (2) summary
    cd04449
    Location:11761257
    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:101381
    IML1; Vacuolar membrane-associated protein Iml1
  12. XM_006503988.4XP_006504051.1  GATOR1 complex protein DEPDC5 isoform X8

    Conserved Domains (2) summary
    cd04449
    Location:10071088
    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:1212
    IML1; Vacuolar membrane-associated protein Iml1