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DEPDC5 DEP domain containing 5 [ Homo sapiens (human) ]

Gene ID: 9681, updated on 19-Jun-2019

Summary

Official Symbol
DEPDC5provided by HGNC
Official Full Name
DEP domain containing 5provided by HGNC
Primary source
HGNC:HGNC:18423
See related
Ensembl:ENSG00000100150 MIM:614191
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DEP.5; FFEVF; FFEVF1
Summary
This gene encodes a member of the IML1 family of proteins involved in G-protein signaling pathways. The mechanistic target of rapamycin complex 1 (mTORC1) pathway regulates cell growth by sensing the availability of nutrients. The protein encoded by this gene is a component of the GATOR1 (GAP activity toward Rags) complex which inhibits the amino acid-sensing branch of the mTORC1 pathway. Mutations in this gene are associated with autosomal dominant familial focal epilepsy with variable foci. A single nucleotide polymorphism in an intron of this gene has been associated with an increased risk of hepatocellular carcinoma in individuals with chronic hepatitis C virus infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
Expression
Ubiquitous expression in testis (RPKM 3.5), ovary (RPKM 3.1) and 25 other tissues See more
Orthologs

Genomic context

See DEPDC5 in Genome Data Viewer
Location:
22q12.2-q12.3
Exon count:
47
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (31753968..31907015)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (32149937..32303020)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 13794 Neighboring gene phosphatidylserine decarboxylase Neighboring gene proline rich 14 like Neighboring gene Sharpr-MPRA regulatory region 5994 Neighboring gene RNA, 7SL, cytoplasmic 20, pseudogene Neighboring gene RNA, U6 small nuclear 201, pseudogene Neighboring gene transcription and mRNA export factor ENY2 pseudogene Neighboring gene uncharacterized LOC105372998 Neighboring gene chromosome 22 open reading frame 24 Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Epilepsy, familial focal, with variable foci 1
MedGen: C4551983 OMIM: 604364 GeneReviews: DEPDC5-Related Epilepsy
not available

NHGRI GWAS Catalog

Description
Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.
NHGRI GWA Catalog
Genome-wide association study of intelligence: additive effects of novel brain expressed genes.
NHGRI GWA Catalog
Variation in the DEPDC5 locus is associated with progression to hepatocellular carcinoma in chronic hepatitis C virus carriers.
NHGRI GWA Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of DEP domain containing 5 (DEPDC5) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • mTOR signaling pathway, organism-specific biosystem (from KEGG)
    mTOR signaling pathway, organism-specific biosystemThe mammalian (mechanistic) target of rapamycin (mTOR) is a highly conserved serine/threonine protein kinase, which exists in two complexes termed mTOR complex 1 (mTORC1) and 2 (mTORC2). mTORC1 conta...
  • mTOR signaling pathway, conserved biosystem (from KEGG)
    mTOR signaling pathway, conserved biosystemThe mammalian (mechanistic) target of rapamycin (mTOR) is a highly conserved serine/threonine protein kinase, which exists in two complexes termed mTOR complex 1 (mTORC1) and 2 (mTORC2). mTORC1 conta...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp779P2027

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to GTPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cellular response to amino acid starvation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to amino acid starvation IMP
Inferred from Mutant Phenotype
more info
PubMed 
intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
negative regulation of TOR signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of TOR signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of TORC1 signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
colocalizes_with Cul3-RING ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 
GATOR1 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GATOR1 complex IDA
Inferred from Direct Assay
more info
PubMed 
cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
lysosomal membrane HDA PubMed 
lysosomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_034067.1 RefSeqGene

    Range
    5001..158084
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001007188.3NP_001007189.1  GATOR complex protein DEPDC5 isoform 2

    See identical proteins and their annotated locations for NP_001007189.1

    Status: REVIEWED

    Source sequence(s)
    AC005004, BC057797, BP354669, CA310381
    Consensus CDS
    CCDS43007.1
    UniProtKB/Swiss-Prot
    O75140
    Related
    ENSP00000383101.3, ENST00000400242.8
    Conserved Domains (1) summary
    pfam12257
    Location:107381
    IML1; Vacuolar membrane-associated protein Iml1
  2. NM_001136029.3NP_001129501.1  GATOR complex protein DEPDC5 isoform 3

    See identical proteins and their annotated locations for NP_001129501.1

    Status: REVIEWED

    Source sequence(s)
    AC005004, AJ698950, DB381506
    Consensus CDS
    CCDS46692.1
    UniProtKB/Swiss-Prot
    O75140
    Conserved Domains (2) summary
    cd04449
    Location:11701251
    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:107381
    DUF3608; Protein of unknown function (DUF3608)
  3. NM_001242896.2NP_001229825.1  GATOR complex protein DEPDC5 isoform 4

    See identical proteins and their annotated locations for NP_001229825.1

    Status: REVIEWED

    Source sequence(s)
    AC005004, BC136612, BP354669, DB381506
    Consensus CDS
    CCDS74849.1
    UniProtKB/Swiss-Prot
    O75140
    Related
    ENSP00000498382.1, ENST00000651528.1
    Conserved Domains (2) summary
    cd04449
    Location:11791260
    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:107381
    IML1; Vacuolar membrane-associated protein Iml1
  4. NM_001242897.2NP_001229826.1  GATOR complex protein DEPDC5 isoform 5

    See identical proteins and their annotated locations for NP_001229826.1

    Status: REVIEWED

    Source sequence(s)
    AC005004, AL022331, Z82190, Z83856
    Consensus CDS
    CCDS56229.1
    UniProtKB/Swiss-Prot
    O75140
    Related
    ENSP00000440210.1, ENST00000535622.6
    Conserved Domains (2) summary
    cd04449
    Location:10791160
    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:107381
    DUF3608; Protein of unknown function (DUF3608)
  5. NM_001363852.2NP_001350781.1  GATOR complex protein DEPDC5 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC005004, AL022331, Z82190, Z83856
    Consensus CDS
    CCDS87017.1
    Conserved Domains (2) summary
    cd04449
    Location:11571238
    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:107381
    IML1; Vacuolar membrane-associated protein Iml1
  6. NM_001363854.2NP_001350783.1  GATOR complex protein DEPDC5 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC005004, AL022331, Z82190, Z83856
    Consensus CDS
    CCDS87018.1
    Conserved Domains (2) summary
    cd04449
    Location:11011182
    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:107381
    IML1; Vacuolar membrane-associated protein Iml1
  7. NM_001364318.1NP_001351247.1  GATOR complex protein DEPDC5 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC005004, AL022331, Z82190, Z83856
    Conserved Domains (2) summary
    cd04449
    Location:11791260
    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:107381
    IML1; Vacuolar membrane-associated protein Iml1
  8. NM_001364319.1NP_001351248.1  GATOR complex protein DEPDC5 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC005004, AL022331, Z82190, Z83856
    Conserved Domains (2) summary
    cd04449
    Location:11011182
    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:107381
    IML1; Vacuolar membrane-associated protein Iml1
  9. NM_001364320.1NP_001351249.1  GATOR complex protein DEPDC5 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC005004, AL022331, Z82190, Z83856
    Conserved Domains (2) summary
    cd04449
    Location:11571238
    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:107381
    IML1; Vacuolar membrane-associated protein Iml1
  10. NM_001369901.1NP_001356830.1  GATOR complex protein DEPDC5 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC005004, AL022331, Z82190, Z83856
  11. NM_001369902.1NP_001356831.1  GATOR complex protein DEPDC5 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC005004, AL022331, Z82190, Z83856
  12. NM_001369903.1NP_001356832.1  GATOR complex protein DEPDC5 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC005004, AL022331, Z82190, Z83856
    Conserved Domains (2) summary
    cd04449
    Location:11481229
    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
  13. NM_014662.5NP_055477.1  GATOR complex protein DEPDC5 isoform 1

    See identical proteins and their annotated locations for NP_055477.1

    Status: REVIEWED

    Source sequence(s)
    AC005004, BC146766, DB381506
    Consensus CDS
    CCDS43006.1
    UniProtKB/Swiss-Prot
    O75140
    Conserved Domains (2) summary
    cd04449
    Location:11481229
    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

RNA

  1. NR_110988.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC005004, BC144291, BP354669, DB381506
    Related
    ENST00000643395.1
  2. NR_146296.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC005004, AL022331, Z82190, Z83856
    Related
    ENST00000646515.1
  3. NR_157125.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC005004, AL022331, Z82190, Z83856
  4. NR_157126.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC005004, AL022331, Z82190, Z83856
  5. NR_157128.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC005004, AL022331, Z82190, Z83856

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    31753968..31907015
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530562.2XP_011528864.1  GATOR complex protein DEPDC5 isoform X7

    Conserved Domains (2) summary
    cd04449
    Location:11791260
    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:107381
    DUF3608; Protein of unknown function (DUF3608)
  2. XM_011530557.2XP_011528859.1  GATOR complex protein DEPDC5 isoform X2

    See identical proteins and their annotated locations for XP_011528859.1

    UniProtKB/Swiss-Prot
    O75140
    Conserved Domains (2) summary
    cd04449
    Location:11701251
    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:107381
    DUF3608; Protein of unknown function (DUF3608)
  3. XM_011530563.2XP_011528865.1  GATOR complex protein DEPDC5 isoform X8

    See identical proteins and their annotated locations for XP_011528865.1

    UniProtKB/Swiss-Prot
    O75140
    Conserved Domains (2) summary
    cd04449
    Location:10791160
    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:107381
    DUF3608; Protein of unknown function (DUF3608)
  4. XM_011530561.2XP_011528863.1  GATOR complex protein DEPDC5 isoform X6

    Conserved Domains (2) summary
    cd04449
    Location:10921173
    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:107381
    DUF3608; Protein of unknown function (DUF3608)
  5. XM_011530565.2XP_011528867.1  GATOR complex protein DEPDC5 isoform X9

    Conserved Domains (2) summary
    pfam12257
    Location:107381
    DUF3608; Protein of unknown function (DUF3608)
    cl02442
    Location:11791232
    DEP; DEP domain, named after Dishevelled, Egl-10, and Pleckstrin, where this domain was first discovered. The function of this domain is still not clear, but it is believed to be important for the membrane association of the signaling proteins in which it is ...
  6. XM_011530568.2XP_011528870.1  GATOR complex protein DEPDC5 isoform X10

    Conserved Domains (1) summary
    pfam12257
    Location:107381
    DUF3608; Protein of unknown function (DUF3608)
  7. XM_017029113.1XP_016884602.1  GATOR complex protein DEPDC5 isoform X13

    Related
    ENSP00000496395.1, ENST00000642974.1
  8. XM_017029115.1XP_016884604.1  GATOR complex protein DEPDC5 isoform X15

    Related
    ENSP00000496281.1, ENST00000645693.1
  9. XM_017029114.1XP_016884603.1  GATOR complex protein DEPDC5 isoform X14

    Related
    ENSP00000494484.1, ENST00000645564.1
  10. XM_011530569.2XP_011528871.1  GATOR complex protein DEPDC5 isoform X11

    Conserved Domains (1) summary
    cd04449
    Location:477558
    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.
  11. XM_024452305.1XP_024308073.1  GATOR complex protein DEPDC5 isoform X12

    Conserved Domains (1) summary
    cd04449
    Location:468549
    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.

RNA

  1. XR_001755390.1 RNA Sequence

  2. XR_001755389.1 RNA Sequence

  3. XR_937973.2 RNA Sequence

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