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

Gene ID: 9681, updated on 3-Apr-2024

Summary

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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; FPEVF; DEE111; 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
mouse all
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Genomic context

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Location:
22q12.2-q12.3
Exon count:
48
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (31753968..31908033)
RS_2023_10 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 VISTA enhancer hs2240 Neighboring gene Sharpr-MPRA regulatory region 13794 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:32027367-32028054 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13637 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18865 Neighboring gene microRNA 7109 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:32042322-32043521 Neighboring gene phosphatidylserine decarboxylase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:32056038-32056932 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:32057235-32058434 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:32060967-32061468 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:32091023-32091524 Neighboring gene proline rich 14 like Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:32145128-32145760 Neighboring gene Sharpr-MPRA regulatory region 5994 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13638 Neighboring gene RNA, 7SL, cytoplasmic 20, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18872 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:32225023-32226222 Neighboring gene RNA, U6 small nuclear 201, pseudogene Neighboring gene Sharpr-MPRA regulatory region 5531 Neighboring gene transcription and mRNA export factor ENY2-like Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr22:32287252-32287786 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:32308155-32308654 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:32312956-32313456 Neighboring gene uncharacterized LOC105372998 Neighboring gene MPRA-validated peak4483 silencer Neighboring gene uncharacterized LOC124905102 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:32338983-32339840 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:32339841-32340698 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13642 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria. Ververi A, et al. Hum Mol Genet, 2023 Jan 27. PMID 36067010, Free PMC Article
  2. Disheveled EGL-10 and pleckstrin domain-containing 5 rs1012068 T/G gene polymorphism among Egyptian chronic HCV-infected patients: disease progression and related complications. Farhan HM, et al. Egypt J Immunol, 2022 Jul. PMID 35758967
  3. DEPDC5-related epilepsy: A comprehensive review. Samanta D. Epilepsy Behav, 2022 May. PMID 35429726
  4. [Genotype and phenotype of children with DEPDC5 gene variants related epilepsy]. Liu WW, et al. Zhonghua Er Ke Za Zhi, 2021 Oct 2. PMID 34587683
  5. DEPDC5 haploinsufficiency drives increased mTORC1 signaling and abnormal morphology in human iPSC-derived cortical neurons. Klofas LK, et al. Neurobiol Dis, 2020 Sep. PMID 32574724, Free PMC Article

See all (73) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. Seizure Control Outcomes following Resection of Cortical Dysplasia in Patients with DEPDC5 Variants: A Systematic Review and Individual Patient Data Analysis.
    Title: Seizure Control Outcomes following Resection of Cortical Dysplasia in Patients with DEPDC5 Variants: A Systematic Review and Individual Patient Data Analysis.
  3. Seizure features and outcomes in 50 children with GATOR1 variants: A retrospective study, more favorable for epilepsy surgery.
    Title: Seizure features and outcomes in 50 children with GATOR1 variants: A retrospective study, more favorable for epilepsy surgery.
  4. Clinical Course May Be Independent from Neuroimaging in DEPDC-5-Related Epilepsy.
    Title: Clinical Course May Be Independent from Neuroimaging in DEPDC-5-Related Epilepsy.
  5. Clinical and genetic features of GATOR1 complex-associated epilepsy.
    Title: Clinical and genetic features of GATOR1 complex-associated epilepsy.
  6. Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.
    Title: Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.
  7. Disheveled EGL-10 and pleckstrin domain-containing 5 rs1012068 T/G gene polymorphism among Egyptian chronic HCV-infected patients: disease progression and related complications.
    Title: Disheveled EGL-10 and pleckstrin domain-containing 5 rs1012068 T/G gene polymorphism among Egyptian chronic HCV-infected patients: disease progression and related complications.
  8. DEPDC5-related epilepsy: A comprehensive review.
    Title: DEPDC5-related epilepsy: A comprehensive review.
  9. [Genotype and phenotype of children with DEPDC5 gene variants related epilepsy].
    Title: [Genotype and phenotype of children with DEPDC5 gene variants related epilepsy].
  10. DEPDC5 haploinsufficiency drives increased mTORC1 signaling and abnormal morphology in human iPSC-derived cortical neurons.
    Title: DEPDC5 haploinsufficiency drives increased mTORC1 signaling and abnormal morphology in human iPSC-derived cortical neurons.
Submit: New GeneRIF Correction See all GeneRIFs (42)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Developmental and epileptic encephalopathy 111
MedGen: CN375466 OMIM: 620504 GeneReviews: Not available
Compare labs
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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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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

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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
  
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 
enables small GTPase binding IDA
Inferred from Direct Assay
more info
 PubMed 
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 IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular response to amino acid starvation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of TOR signaling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of TORC1 signaling IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of TORC1 signaling IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of TORC1 signaling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of TORC1 signaling NAS
Non-traceable Author Statement
more info
 PubMed 
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 IDA
Inferred from Direct Assay
more info
 PubMed 
part_of GATOR1 complex IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
is_active_in lysosomal membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in lysosomal membrane NAS
Non-traceable Author Statement
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

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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.

Genomic

  1. NG_034067.1 RefSeqGene

    Range
    5069..159083
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001007188.4 → NP_001007189.1  GATOR1 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/TrEMBL
    A0A2R8Y5P2
    Related
    ENSP00000383101.3, ENST00000400242.8
    Conserved Domains (1) summary
    pfam12257
    Location:107 → 381
    IML1; Vacuolar membrane-associated protein Iml1

  2. NM_001136029.4 → NP_001129501.1  GATOR1 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/TrEMBL
    A0A2R8Y7U0
    Related
    ENSP00000493489.1, ENST00000645711.1
    Conserved Domains (2) summary
    cd04449
    Location:1170 → 1251
    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:107 → 381
    DUF3608; Protein of unknown function (DUF3608)

  3. NM_001242896.3 → NP_001229825.1  GATOR1 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
    A6H8V6, A8MPX9, B4DH93, B9EGN9, O75140, Q5K3V5, Q5THY9, Q5THZ0, Q5THZ1, Q5THZ3, Q68DR1, Q6MZX3, Q6PEZ1, Q9UGV8, Q9UH13
    UniProtKB/TrEMBL
    A0A2R8Y7U0
    Related
    ENSP00000498382.1, ENST00000651528.2
    Conserved Domains (3) summary
    cd04449
    Location:1179 → 1260
    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
    pfam19418
    Location:1278 → 1585
    DEPDC5_CTD; DEPDC5 protein C-terminal region

  4. NM_001242897.2 → NP_001229826.1  GATOR1 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/TrEMBL
    A0A2R8Y7U0
    Related
    ENSP00000440210.1, ENST00000535622.6
    Conserved Domains (2) summary
    cd04449
    Location:1079 → 1160
    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:107 → 381
    DUF3608; Protein of unknown function (DUF3608)

  5. NM_001363852.2 → NP_001350781.1  GATOR1 complex protein DEPDC5 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC005004, AL022331, Z82190, Z83856
    Consensus CDS
    CCDS87017.1
    UniProtKB/TrEMBL
    A0A2R8Y7U0
    Related
    ENSP00000494406.1, ENST00000644331.1
    Conserved Domains (2) summary
    cd04449
    Location:1157 → 1238
    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:107 → 381
    IML1; Vacuolar membrane-associated protein Iml1

  6. NM_001363854.2 → NP_001350783.1  GATOR1 complex protein DEPDC5 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC005004, AL022331, Z82190, Z83856
    Consensus CDS
    CCDS87018.1
    UniProtKB/TrEMBL
    A0A2R8Y6H3, A0A2R8Y7U0
    Related
    ENSP00000495544.1, ENST00000645560.1
    Conserved Domains (2) summary
    cd04449
    Location:1101 → 1182
    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:107 → 381
    IML1; Vacuolar membrane-associated protein Iml1

  7. NM_001364318.2 → NP_001351247.1  GATOR1 complex protein DEPDC5 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC005004, AL022331, Z82190, Z83856
    Consensus CDS
    CCDS74849.1
    UniProtKB/Swiss-Prot
    A6H8V6, A8MPX9, B4DH93, B9EGN9, O75140, Q5K3V5, Q5THY9, Q5THZ0, Q5THZ1, Q5THZ3, Q68DR1, Q6MZX3, Q6PEZ1, Q9UGV8, Q9UH13
    UniProtKB/TrEMBL
    A0A2R8Y7U0
    Related
    ENSP00000371546.4, ENST00000382112.8
    Conserved Domains (3) summary
    cd04449
    Location:1179 → 1260
    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
    pfam19418
    Location:1278 → 1585
    DEPDC5_CTD; DEPDC5 protein C-terminal region

  8. NM_001364319.2 → NP_001351248.1  GATOR1 complex protein DEPDC5 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC005004, AL022331, Z82190, Z83856
    Consensus CDS
    CCDS87018.1
    UniProtKB/TrEMBL
    A0A2R8Y6H3, A0A2R8Y7U0
    Related
    ENSP00000496724.1, ENST00000646969.1
    Conserved Domains (2) summary
    cd04449
    Location:1101 → 1182
    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:107 → 381
    IML1; Vacuolar membrane-associated protein Iml1

  9. NM_001364320.2 → NP_001351249.1  GATOR1 complex protein DEPDC5 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC005004, AL022331, Z82190, Z83856
    Consensus CDS
    CCDS87017.1
    UniProtKB/TrEMBL
    A0A2R8Y7U0
    Related
    ENSP00000383108.3, ENST00000400249.7
    Conserved Domains (2) summary
    cd04449
    Location:1157 → 1238
    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:107 → 381
    IML1; Vacuolar membrane-associated protein Iml1

  10. NM_001369901.1 → NP_001356830.1  GATOR1 complex protein DEPDC5 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC005004, AL022331, Z82190, Z83856
    Consensus CDS
    CCDS93151.1
    UniProtKB/TrEMBL
    A0A2R8Y7U0, H0Y770
    Related
    ENSP00000494879.1, ENST00000647343.1
    Conserved Domains (3) summary
    cd04449
    Location:1151 → 1232
    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:94 → 353
    IML1; Vacuolar membrane-associated protein Iml1
    pfam19418
    Location:1250 → 1557
    DEPDC5_CTD; DEPDC5 protein C-terminal region

  11. NM_001369902.1 → NP_001356831.1  GATOR1 complex protein DEPDC5 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC005004, AL022331, Z82190, Z83856
    Consensus CDS
    CCDS93151.1
    UniProtKB/TrEMBL
    A0A2R8Y7U0, H0Y770
    Related
    ENSP00000410544.2, ENST00000433147.2
    Conserved Domains (3) summary
    cd04449
    Location:1151 → 1232
    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:94 → 353
    IML1; Vacuolar membrane-associated protein Iml1
    pfam19418
    Location:1250 → 1557
    DEPDC5_CTD; DEPDC5 protein C-terminal region

  12. NM_001369903.1 → NP_001356832.1  GATOR1 complex protein DEPDC5 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC005004, AL022331, Z82190, Z83856
    Consensus CDS
    CCDS43006.1
    UniProtKB/TrEMBL
    A0A2R8Y7U0
    Related
    ENSP00000495917.1, ENST00000642696.1
    Conserved Domains (2) summary
    cd04449
    Location:1148 → 1229
    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

  13. NM_014662.6 → NP_055477.1  GATOR1 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/TrEMBL
    A0A2R8Y7U0
    Related
    ENSP00000383107.1, ENST00000400248.7
    Conserved Domains (2) summary
    cd04449
    Location:1148 → 1229
    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

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: GCF_000001405.40-RS_2023_10

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_047441625.1 → XP_047297581.1  GATOR1 complex protein DEPDC5 isoform X2

  2. XM_047441627.1 → XP_047297583.1  GATOR1 complex protein DEPDC5 isoform X5

  3. XM_047441637.1 → XP_047297593.1  GATOR1 complex protein DEPDC5 isoform X20

    Related
    ENSP00000496281.1, ENST00000645693.1

  4. XM_011530562.3 → XP_011528864.1  GATOR1 complex protein DEPDC5 isoform X3

    UniProtKB/TrEMBL
    A0A2R8Y5K9
    Conserved Domains (2) summary
    cd04449
    Location:1179 → 1260
    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:107 → 381
    DUF3608; Protein of unknown function (DUF3608)

  5. XM_011530557.3 → XP_011528859.1  GATOR1 complex protein DEPDC5 isoform X1

    See identical proteins and their annotated locations for XP_011528859.1

    UniProtKB/TrEMBL
    A0A2R8Y7U0
    Conserved Domains (2) summary
    cd04449
    Location:1170 → 1251
    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:107 → 381
    DUF3608; Protein of unknown function (DUF3608)

  6. XM_047441628.1 → XP_047297584.1  GATOR1 complex protein DEPDC5 isoform X6

  7. XM_047441629.1 → XP_047297585.1  GATOR1 complex protein DEPDC5 isoform X7

  8. XM_011530563.3 → XP_011528865.1  GATOR1 complex protein DEPDC5 isoform X4

    See identical proteins and their annotated locations for XP_011528865.1

    UniProtKB/TrEMBL
    A0A2R8Y7U0
    Conserved Domains (2) summary
    cd04449
    Location:1079 → 1160
    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:107 → 381
    DUF3608; Protein of unknown function (DUF3608)

  9. XM_011530561.3 → XP_011528863.1  GATOR1 complex protein DEPDC5 isoform X2

    UniProtKB/TrEMBL
    A0A2R8Y7U0
    Conserved Domains (2) summary
    cd04449
    Location:1092 → 1173
    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:107 → 381
    DUF3608; Protein of unknown function (DUF3608)

  10. XM_047441626.1 → XP_047297582.1  GATOR1 complex protein DEPDC5 isoform X5

  11. XM_047441630.1 → XP_047297586.1  GATOR1 complex protein DEPDC5 isoform X8

  12. XM_011530565.3 → XP_011528867.1  GATOR1 complex protein DEPDC5 isoform X10

    UniProtKB/TrEMBL
    A0A2R8YEW8
    Conserved Domains (2) summary
    pfam12257
    Location:107 → 381
    DUF3608; Protein of unknown function (DUF3608)
    cl02442
    Location:1179 → 1232
    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_047441633.1 → XP_047297589.1  GATOR1 complex protein DEPDC5 isoform X12

  14. XM_047441636.1 → XP_047297592.1  GATOR1 complex protein DEPDC5 isoform X15

  15. XM_047441631.1 → XP_047297587.1  GATOR1 complex protein DEPDC5 isoform X9

  16. XM_047441635.1 → XP_047297591.1  GATOR1 complex protein DEPDC5 isoform X14

    UniProtKB/TrEMBL
    A0A2R8Y6V4
    Related
    ENSP00000495496.1, ENST00000643751.2

  17. XM_047441634.1 → XP_047297590.1  GATOR1 complex protein DEPDC5 isoform X13

    UniProtKB/TrEMBL
    A0A2R8Y5T1
    Related
    ENSP00000494700.1, ENST00000646515.1

  18. XM_017029113.2 → XP_016884602.1  GATOR1 complex protein DEPDC5 isoform X18

    UniProtKB/TrEMBL
    A0A2R8Y7U6
    Related
    ENSP00000496395.1, ENST00000642974.1

  19. XM_017029114.2 → XP_016884603.1  GATOR1 complex protein DEPDC5 isoform X19

    UniProtKB/TrEMBL
    A0A2R8Y5E9
    Related
    ENSP00000494484.1, ENST00000645564.1

  20. XM_047441632.1 → XP_047297588.1  GATOR1 complex protein DEPDC5 isoform X11

  21. XM_011530569.3 → XP_011528871.1  GATOR1 complex protein DEPDC5 isoform X16

    Conserved Domains (1) summary
    cd04449
    Location:477 → 558
    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_024452305.2 → XP_024308073.1  GATOR1 complex protein DEPDC5 isoform X17

    Conserved Domains (1) summary
    cd04449
    Location:468 → 549
    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)

mRNA and Protein(s)

  1. XM_054326180.1 → XP_054182155.1  GATOR1 complex protein DEPDC5 isoform X2

  2. XM_054326184.1 → XP_054182159.1  GATOR1 complex protein DEPDC5 isoform X5

  3. XM_054326191.1 → XP_054182166.1  GATOR1 complex protein DEPDC5 isoform X12

  4. XM_054326197.1 → XP_054182172.1  GATOR1 complex protein DEPDC5 isoform X18

  5. XM_054326199.1 → XP_054182174.1  GATOR1 complex protein DEPDC5 isoform X20

  6. XM_054326198.1 → XP_054182173.1  GATOR1 complex protein DEPDC5 isoform X19

  7. XM_054326181.1 → XP_054182156.1  GATOR1 complex protein DEPDC5 isoform X3

  8. XM_054326178.1 → XP_054182153.1  GATOR1 complex protein DEPDC5 isoform X1

  9. XM_054326185.1 → XP_054182160.1  GATOR1 complex protein DEPDC5 isoform X6

  10. XM_054326186.1 → XP_054182161.1  GATOR1 complex protein DEPDC5 isoform X7

  11. XM_054326182.1 → XP_054182157.1  GATOR1 complex protein DEPDC5 isoform X4

  12. XM_054326179.1 → XP_054182154.1  GATOR1 complex protein DEPDC5 isoform X2

  13. XM_054326183.1 → XP_054182158.1  GATOR1 complex protein DEPDC5 isoform X5

  14. XM_054326187.1 → XP_054182162.1  GATOR1 complex protein DEPDC5 isoform X8

  15. XM_054326189.1 → XP_054182164.1  GATOR1 complex protein DEPDC5 isoform X10

  16. XM_054326194.1 → XP_054182169.1  GATOR1 complex protein DEPDC5 isoform X15

  17. XM_054326188.1 → XP_054182163.1  GATOR1 complex protein DEPDC5 isoform X9

  18. XM_054326193.1 → XP_054182168.1  GATOR1 complex protein DEPDC5 isoform X14

    UniProtKB/TrEMBL
    A0A2R8Y6V4

  19. XM_054326192.1 → XP_054182167.1  GATOR1 complex protein DEPDC5 isoform X13

    UniProtKB/TrEMBL
    A0A2R8Y5T1

  20. XM_054326190.1 → XP_054182165.1  GATOR1 complex protein DEPDC5 isoform X11

  21. XM_054326195.1 → XP_054182170.1  GATOR1 complex protein DEPDC5 isoform X16

  22. XM_054326196.1 → XP_054182171.1  GATOR1 complex protein DEPDC5 isoform X17

RNA

  1. XR_008485440.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75140.2 GenPept UniProtKB/Swiss-Prot:O75140

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