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DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit [ Homo sapiens (human) ]

Gene ID: 9681, updated on 13-May-2022

Summary

Official Symbol
DEPDC5provided by HGNC
Official Full Name
DEP domain containing 5, GATOR1 subcomplex subunitprovided by HGNC
Primary source
HGNC:HGNC:18423
See related
Ensembl:ENSG00000100150 MIM:614191; AllianceGenome:HGNC:18423
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
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Try the new Transcript table

Genomic context

See DEPDC5 in Genome Data Viewer
Location:
22q12.2-q12.3
Exon count:
48
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (31753968..31908033)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (32218011..32372148)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (32149954..32304019)

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-like Neighboring gene uncharacterized LOC105372998 Neighboring gene uncharacterized LOC124905102 Neighboring gene uncharacterized LOC124900477 Neighboring gene YWHAH antisense RNA 1 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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Epilepsy, familial focal, with variable foci 1
MedGen: C4551983 OMIM: 604364 GeneReviews: DEPDC5-Related Epilepsy
Compare labs

EBI GWAS Catalog

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

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 
enables protein-containing complex binding IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
part_of GATOR1 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of GATOR1 complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of GATOR1 complex IPI
Inferred from Physical Interaction
more info
PubMed 
located_in cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in lysosomal membrane HDA PubMed 
is_active_in lysosomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in lysosomal membrane IC
Inferred by Curator
more info
PubMed 
located_in lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in lysosomal membrane TAS
Traceable Author Statement
more info
 
located_in lysosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in 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)

NEW Try the new Transcript table

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
    5018..158065
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001007188.4NP_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_001136029.4NP_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, Z83856
    Consensus CDS
    CCDS46692.1
    UniProtKB/Swiss-Prot
    O75140
    Related
    ENSP00000493489.1, ENST00000645711.1
    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_001242896.3NP_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, Z83856
    Consensus CDS
    CCDS74849.1
    UniProtKB/Swiss-Prot
    O75140
    Related
    ENSP00000498382.1, ENST00000651528.2
    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:101381
    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
    Related
    ENSP00000494406.1, ENST00000644331.1
    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
    Related
    ENSP00000495544.1, ENST00000645560.1
    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_001364318.2NP_001351247.1  GATOR complex protein DEPDC5 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC005004, AL022331, Z82190, Z83856
    Related
    ENSP00000371546.4, ENST00000382112.8
    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:101381
    IML1; Vacuolar membrane-associated protein Iml1
  8. NM_001364319.2NP_001351248.1  GATOR complex protein DEPDC5 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC005004, AL022331, Z82190, Z83856
    Related
    ENSP00000496724.1, ENST00000646969.1
    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
  9. NM_001364320.2NP_001351249.1  GATOR complex protein DEPDC5 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC005004, AL022331, Z82190, Z83856
    Related
    ENSP00000383108.3, ENST00000400249.7
    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
    Related
    ENSP00000494879.1, ENST00000647343.1
    Conserved Domains (2) summary
    cd04449
    Location:11511232
    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:94353
    IML1; Vacuolar membrane-associated protein Iml1
  11. NM_001369902.1NP_001356831.1  GATOR complex protein DEPDC5 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC005004, AL022331, Z82190, Z83856
    Related
    ENSP00000410544.2, ENST00000433147.2
    Conserved Domains (2) summary
    cd04449
    Location:11511232
    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:94353
    IML1; Vacuolar membrane-associated protein Iml1
  12. NM_001369903.1NP_001356832.1  GATOR complex protein DEPDC5 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC005004, AL022331, Z82190, Z83856
    Related
    ENSP00000495917.1, ENST00000642696.1
    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_014662.6NP_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, Z83856
    Consensus CDS
    CCDS43006.1
    UniProtKB/Swiss-Prot
    O75140
    Related
    ENSP00000383107.1, ENST00000400248.7
    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
    ENST00000644162.1
  3. NR_157125.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC005004, AL022331, Z82190, Z83856
    Related
    ENST00000645755.1
  4. NR_157126.2 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
    Related
    ENST00000646998.1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    31753968..31908033
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047441625.1XP_047297581.1  GATOR complex protein DEPDC5 isoform X2

  2. XM_047441627.1XP_047297583.1  GATOR complex protein DEPDC5 isoform X5

  3. XM_047441637.1XP_047297593.1  GATOR complex protein DEPDC5 isoform X20

    Related
    ENSP00000496281.1, ENST00000645693.1
  4. XM_011530562.3XP_011528864.1  GATOR complex protein DEPDC5 isoform X3

    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)
  5. XM_011530557.3XP_011528859.1  GATOR complex protein DEPDC5 isoform X1

    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)
  6. XM_047441628.1XP_047297584.1  GATOR complex protein DEPDC5 isoform X6

  7. XM_047441629.1XP_047297585.1  GATOR complex protein DEPDC5 isoform X7

  8. XM_011530563.3XP_011528865.1  GATOR complex protein DEPDC5 isoform X4

    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)
  9. XM_011530561.3XP_011528863.1  GATOR complex protein DEPDC5 isoform X2

    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)
  10. XM_047441626.1XP_047297582.1  GATOR complex protein DEPDC5 isoform X5

  11. XM_047441630.1XP_047297586.1  GATOR complex protein DEPDC5 isoform X8

  12. XM_011530565.3XP_011528867.1  GATOR complex protein DEPDC5 isoform X10

    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 ...
  13. XM_047441633.1XP_047297589.1  GATOR complex protein DEPDC5 isoform X12

  14. XM_047441636.1XP_047297592.1  GATOR complex protein DEPDC5 isoform X15

  15. XM_047441631.1XP_047297587.1  GATOR complex protein DEPDC5 isoform X9

  16. XM_047441635.1XP_047297591.1  GATOR complex protein DEPDC5 isoform X14

    Related
    ENSP00000495496.1, ENST00000643751.2
  17. XM_047441634.1XP_047297590.1  GATOR complex protein DEPDC5 isoform X13

    Related
    ENSP00000494700.1, ENST00000646515.1
  18. XM_017029113.2XP_016884602.1  GATOR complex protein DEPDC5 isoform X18

    Related
    ENSP00000496395.1, ENST00000642974.1
  19. XM_017029114.2XP_016884603.1  GATOR complex protein DEPDC5 isoform X19

    Related
    ENSP00000494484.1, ENST00000645564.1
  20. XM_047441632.1XP_047297588.1  GATOR complex protein DEPDC5 isoform X11

  21. XM_011530569.3XP_011528871.1  GATOR complex protein DEPDC5 isoform X16

    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.
  22. XM_024452305.2XP_024308073.1  GATOR complex protein DEPDC5 isoform X17

    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_007067997.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    32218011..32372148
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)