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

    Gene ID: 9681, updated on 3-Nov-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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    See DEPDC5 in Genome Data Viewer
    Location:
    22q12.2-q12.3
    Exon count:
    48
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (31753968..31908033)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (32218011..32372148)
    RS_2024_09 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 ibosomal protein L17 pseudogene 52 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 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. DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy. Striano P, et al. Epilepsia, 2015 Oct. PMID 26216793
    2. Preliminary functional assessment and classification of DEPDC5 variants associated with focal epilepsy. van Kranenburg M, et al. Hum Mutat, 2015 Feb. PMID 25366275
    3. Genetics advances in autosomal dominant focal epilepsies: focus on DEPDC5. Baulac S. Prog Brain Res, 2014. PMID 25194487
    4. Variations in DEPDC5 gene and its association with chronic hepatitis C virus infection in Saudi Arabia. Al-Anazi MR, et al. BMC Infect Dis, 2014 Dec 31. PMID 25551790, Free PMC Article
    5. Correlation between the DEPDC5 rs1012068 polymorphism and the risk of HBV-related hepatocellular carcinoma. Liu W, et al. Clin Res Hepatol Gastroenterol, 2019 Aug. PMID 30683632

    See all (84) 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: C5882690 OMIM: 620504 GeneReviews: Not available
    		not available
    Epilepsy, familial focal, with variable foci 1
    MedGen: C4551983 OMIM: 604364 GeneReviews: DEPDC5-Related Epilepsy
    		not available

    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
    enables protein binding IPI
    Inferred from Physical Interaction
    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 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_2024_08

    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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