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

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, Dec 2024]
Expression: Ubiquitous expression in cerebellum adult (RPKM 5.6), whole brain E14.5 (RPKM 5.6) and 28 other tissues See more
Orthologs: human all
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Genomic context

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_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The mTOR pathway genes MTOR, Rheb, Depdc5, Pten, and Tsc1 have convergent and divergent impacts on cortical neuron development and function.
Title: The mTOR pathway genes MTOR, Rheb, Depdc5, Pten, and Tsc1 have convergent and divergent impacts on cortical neuron development and function.
miR-129-2-3p inhibits colon cancer cell proliferation by down-regulating the expression of BZW1.
Title: miR-129-2-3p inhibits colon cancer cell proliferation by down-regulating the expression of BZW1.
Sudden Unexpected Death in Epilepsy and Respiratory Defects in a Mouse Model of DEPDC5-Related Epilepsy.
Title: Sudden Unexpected Death in Epilepsy and Respiratory Defects in a Mouse Model of DEPDC5-Related Epilepsy.
Simultaneous loss of TSC1 and DEPDC5 in skeletal and cardiac muscles produces early-onset myopathy and cardiac dysfunction associated with oxidative damage and SQSTM1/p62 accumulation.
Title: Simultaneous loss of TSC1 and DEPDC5 in skeletal and cardiac muscles produces early-onset myopathy and cardiac dysfunction associated with oxidative damage and SQSTM1/p62 accumulation.
DEPDC5-dependent mTORC1 signaling mechanisms are critical for the anti-seizure effects of acute fasting.
Title: DEPDC5-dependent mTORC1 signaling mechanisms are critical for the anti-seizure effects of acute fasting.
Persistent mTORC1 activation via Depdc5 deletion results in spontaneous hepatocellular carcinoma but does not exacerbate carcinogen- and high-fat diet-induced hepatic carcinogenesis in mice.
Title: Persistent mTORC1 activation via Depdc5 deletion results in spontaneous hepatocellular carcinoma but does not exacerbate carcinogen- and high-fat diet-induced hepatic carcinogenesis in mice.
Adipocyte-specific deletion of Depdc5 exacerbates insulin resistance and adipose tissue inflammation in mice.
Title: Adipocyte-specific deletion of Depdc5 exacerbates insulin resistance and adipose tissue inflammation in mice.
Depdc5 deficiency exacerbates alcohol-induced hepatic steatosis via suppression of PPARalpha pathway.
Title: Depdc5 deficiency exacerbates alcohol-induced hepatic steatosis via suppression of PPARα pathway.
Prevention of premature death and seizures in a Depdc5 mouse epilepsy model through inhibition of mTORC1.
Title: Prevention of premature death and seizures in a Depdc5 mouse epilepsy model through inhibition of mTORC1.
Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia-associated epilepsy.
Title: Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia-associated epilepsy.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (2)
Endonuclease-mediated (5) 1 citation
Targeted (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D5Ertd477e (e-PCR), detects polymorphism
- UniSTS:167440

AV016528 (e-PCR)
- UniSTS:165394

REN75731 (e-PCR)
- UniSTS:400531

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

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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)

NM_001025426.3 → NP_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:1176 → 1257

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:101 → 381

IML1; Vacuolar membrane-associated protein Iml1
NM_001170567.2 → NP_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:1167 → 1248

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:101 → 381

IML1; Vacuolar membrane-associated protein Iml1
NM_001360014.2 → NP_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:976 → 1057

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:1 → 212

IML1; Vacuolar membrane-associated protein Iml1
NM_001404313.1 → NP_001391242.1 GATOR1 complex protein DEPDC5 isoform 3

Status: VALIDATED

Source sequence(s)

AC108773, AC122203

UniProtKB/Swiss-Prot

E9Q5J2, E9Q5Y0, P61460
NM_001404314.1 → NP_001391243.1 GATOR1 complex protein DEPDC5 isoform 1

Status: VALIDATED

Source sequence(s)

AC108773, AC122203

UniProtKB/TrEMBL

Q6GQV2
NM_001404315.1 → NP_001391244.1 GATOR1 complex protein DEPDC5 isoform 5

Status: VALIDATED

Source sequence(s)

AC108773, AC122203
NM_001404316.1 → NP_001391245.1 GATOR1 complex protein DEPDC5 isoform 6

Status: VALIDATED

Source sequence(s)

AC108773, AC122203
NM_001404317.1 → NP_001391246.1 GATOR1 complex protein DEPDC5 isoform 6

Status: VALIDATED

Source sequence(s)

AC108773, AC122203
NM_001404318.1 → NP_001391247.1 GATOR1 complex protein DEPDC5 isoform 7

Status: VALIDATED

Source sequence(s)

AC108773, AC122203
NM_001404319.1 → NP_001391248.1 GATOR1 complex protein DEPDC5 isoform 8

Status: VALIDATED

Source sequence(s)

AC108773, AC122203
NM_001404320.1 → NP_001391249.1 GATOR1 complex protein DEPDC5 isoform 8

Status: VALIDATED

Source sequence(s)

AC108773, AC122203

Related

ENSMUSP00000113980.2, ENSMUST00000120902.8
NM_001404332.1 → NP_001391261.1 GATOR1 complex protein DEPDC5 isoform 9

Status: VALIDATED

Source sequence(s)

AC108773, AC122203
NM_001404333.1 → NP_001391262.1 GATOR1 complex protein DEPDC5 isoform 9

Status: VALIDATED

Source sequence(s)

AC108773, AC122203
NM_001404334.1 → NP_001391263.1 GATOR1 complex protein DEPDC5 isoform 10

Status: VALIDATED

Source sequence(s)

AC108773, AC122203
NM_001404335.1 → NP_001391264.1 GATOR1 complex protein DEPDC5 isoform 11

Status: VALIDATED

Source sequence(s)

AC108773, AC122203
NM_001404336.1 → NP_001391265.1 GATOR1 complex protein DEPDC5 isoform 11

Status: VALIDATED

Source sequence(s)

AC108773, AC122203
NM_177786.5 → NP_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:107 → 381

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

NC_000071.7 Reference GRCm39 C57BL/6J

Range

33020996..33151581

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006503980.4 → XP_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:1176 → 1257

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:101 → 381

IML1; Vacuolar membrane-associated protein Iml1
XM_030254553.1 → XP_030110413.1 GATOR1 complex protein DEPDC5 isoform X8

Conserved Domains (2) summary

cd04449
Location:1007 → 1088

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:1 → 212

IML1; Vacuolar membrane-associated protein Iml1
XM_030254550.1 → XP_030110410.1 GATOR1 complex protein DEPDC5 isoform X2

UniProtKB/Swiss-Prot

E9Q5J2, E9Q5Y0, P61460

Conserved Domains (2) summary

cd04449
Location:1167 → 1248

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:101 → 381

IML1; Vacuolar membrane-associated protein Iml1
XM_030254554.2 → XP_030110414.1 GATOR1 complex protein DEPDC5 isoform X8

Conserved Domains (2) summary

cd04449
Location:1007 → 1088

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:1 → 212

IML1; Vacuolar membrane-associated protein Iml1
XM_006503978.4 → XP_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:1176 → 1257

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:101 → 381

IML1; Vacuolar membrane-associated protein Iml1
XM_006503985.4 → XP_006504048.1 GATOR1 complex protein DEPDC5 isoform X3

Conserved Domains (2) summary

cd04449
Location:1154 → 1235

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:101 → 381

IML1; Vacuolar membrane-associated protein Iml1
XM_006503984.4 → XP_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:1167 → 1248

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:101 → 381

IML1; Vacuolar membrane-associated protein Iml1
XM_006503987.4 → XP_006504050.1 GATOR1 complex protein DEPDC5 isoform X5

UniProtKB/Swiss-Prot

P61460

Conserved Domains (2) summary

cd04449
Location:1145 → 1226

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:101 → 381

IML1; Vacuolar membrane-associated protein Iml1
XM_006503986.4 → XP_006504049.1 GATOR1 complex protein DEPDC5 isoform X4

Conserved Domains (2) summary

cd04449
Location:1154 → 1235

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:101 → 381

IML1; Vacuolar membrane-associated protein Iml1
XM_006503979.4 → XP_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:1176 → 1257

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:101 → 381

IML1; Vacuolar membrane-associated protein Iml1
XM_006503982.4 → XP_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:1176 → 1257

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:101 → 381

IML1; Vacuolar membrane-associated protein Iml1
XM_006503988.4 → XP_006504051.1 GATOR1 complex protein DEPDC5 isoform X8

Conserved Domains (2) summary

cd04449
Location:1007 → 1088

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:1 → 212

IML1; Vacuolar membrane-associated protein Iml1