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    DESI2 desumoylating isopeptidase 2 [ Homo sapiens (human) ]

    Gene ID: 51029, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DESI2provided by HGNC
    Official Full Name
    desumoylating isopeptidase 2provided by HGNC
    Primary source
    HGNC:HGNC:24264
    See related
    Ensembl:ENSG00000121644 MIM:614638; AllianceGenome:HGNC:24264
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DESI; DESI1; DeSI-2; PNAS-4; PPPDE1; CGI-146; FAM152A; C1orf121
    Summary
    Enables deubiquitinase activity and long-chain fatty acyl-CoA hydrolase activity. Predicted to be involved in protein deubiquitination. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis (RPKM 26.2), thyroid (RPKM 11.1) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DESI2 in Genome Data Viewer
    Location:
    1q44
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (244653126..244709033)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (244069385..244125271)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (244816428..244872335)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene adenylosuccinate synthase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2013 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2014 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:244623002-244624201 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2015 Neighboring gene catsper channel auxiliary subunit epsilon Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:244676451-244676951 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2840 Neighboring gene MPRA-validated peak807 silencer Neighboring gene CYCS pseudogene 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:244806024-244806577 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:244815099-244815672 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2841 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2016 Neighboring gene MPRA-validated peak808 silencer Neighboring gene ribosomal protein L37 pseudogene 8 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:244892764-244893500 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:244893501-244894238 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:244898381-244899580 Neighboring gene chromosome 1 open reading frame 202 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:244923887-244924533 Neighboring gene uncharacterized LOC107985372

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. PNAS-4 expression and its relationship to p53 in colorectal cancer. Zhou B, et al. Mol Biol Rep, 2012 Jan. PMID 21556770
    2. Desumoylating Isopeptidase 2 (DESI2) Inhibits Proliferation and Promotes Apoptosis of Pancreatic Cancer Cells through Regulating PI3K/AKT/mTOR Signaling Pathway. Ou X, et al. Pathol Oncol Res, 2019 Apr. PMID 30411297
    3. PNAS-4, an Early DNA Damage Response Gene, Induces S Phase Arrest and Apoptosis by Activating Checkpoint Kinases in Lung Cancer Cells. Yuan Z, et al. J Biol Chem, 2015 Jun 12. PMID 25918161, Free PMC Article
    4. High Phosphorylation Status of AKT/mTOR Signal in DESI2-Reduced Pancreatic Ductal Adenocarcinoma. Shen CC, et al. Pathol Oncol Res, 2015 Apr. PMID 25079376
    5. hPNAS-4 inhibits proliferation through S phase arrest and apoptosis: underlying action mechanism in ovarian cancer cells. Li L, et al. Apoptosis, 2013 Apr. PMID 23322088

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PPPDE1 is a key modulator of p53 protein level and its down stream apoptosis pathway. These results suggested that PPPDE1 is a putative Hepatocellular carcinoma driver gene.
      Title: PPPDE1 promotes hepatocellular carcinoma development by negatively regulate p53 and apoptosis.
    2. Combination of DESI2 and endostatin gene therapy in the mouse models significantly improves antitumor efficacy by accumulating DNA lesions, inducing apoptosis and inhibiting angiogenesis.
      Title: Combination of DESI2 and endostatin gene therapy significantly improves antitumor efficacy by accumulating DNA lesions, inducing apoptosis and inhibiting angiogenesis.
    3. DESI2 regulates the proliferation and apoptosis of pancreatic cancer cells through PI3K/AKT/mTOR signaling pathway
      Title: Desumoylating Isopeptidase 2 (DESI2) Inhibits Proliferation and Promotes Apoptosis of Pancreatic Cancer Cells through Regulating PI3K/AKT/mTOR Signaling Pathway.
    4. The PPPDE1 could mediate the ubiquitin chain editing of RPS7, deubiquitinating Lys 48-linked ubiquitination, and finally stabilize RPS7 proteins.
      Title: PPPDE1 is a novel deubiquitinase belonging to a cysteine isopeptidase family.
    5. DESI2 may influence the AKT/mTOR signal in pancreatic cancer.
      Title: High Phosphorylation Status of AKT/mTOR Signal in DESI2-Reduced Pancreatic Ductal Adenocarcinoma.
    6. findings suggest a novel mechanism by which elevated PNAS-4 first causes DNA-dependent protein kinase-mediated Chk1/2 activation and then results in inhibition of the Cdc25A-CDK2-cyclin E/A pathway
      Title: PNAS-4, an Early DNA Damage Response Gene, Induces S Phase Arrest and Apoptosis by Activating Checkpoint Kinases in Lung Cancer Cells.
    7. hPNAS-4 inhibits proliferation of ovarian cancer cells by inducing S phase arrest and apoptosis via activation of Cdc25A-Cdk2-Cyclin E/Cyclin A axis and mitochondrial dysfunction-mediated caspase-dependent and -independent apoptotic pathways.
      Title: hPNAS-4 inhibits proliferation through S phase arrest and apoptosis: underlying action mechanism in ovarian cancer cells.
    8. PNAS-4 is not a p53 target, but overexpression of PNAS-4 is correlated to p53 inactivity in colorectal cancer.
      Title: PNAS-4 expression and its relationship to p53 in colorectal cancer.
    9. overexpression of human PNAS4 induced apoptosis and arrested cell cycle in S phase in A549 human lung adenocarcinoma cells.
      Title: A novel pro-apoptosis gene PNAS4 that induces apoptosis in A549 human lung adenocarcinoma cells and inhibits tumor growth in mice.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ21998

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables K48-linked deubiquitinase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables K63-linked deubiquitinase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables cysteine-type deubiquitinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables deubiquitinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables long-chain fatty acyl-CoA hydrolase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables palmitoyl-(protein) hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in macromolecule depalmitoylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    deubiquitinase DESI2
    Names
    PPPDE peptidase domain-containing protein 1
    S-depalmitoylase DESI2
    desumoylating isopeptidase 1
    family with sequence similarity 152, member A
    palmitoyl protein thioesterase DESI2
    NP_001284675.1
    NP_057160.2
    XP_011542505.1
    XP_011542507.1
    XP_011542508.1
    XP_011542509.1
    XP_047277789.1
    XP_054192823.1
    XP_054192824.1
    XP_054192825.1
    XP_054192826.1
    XP_054192827.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001297746.2 → NP_001284675.1  deubiquitinase DESI2 isoform 2

      See identical proteins and their annotated locations for NP_001284675.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon and uses an alternate splice site, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AF229834, AL451007, AW135153, BI459676, CN303012
      Consensus CDS
      CCDS73055.1
      Related
      ENSP00000263831.7, ENST00000263831.11
      Conserved Domains (1) summary
      pfam05903
      Location:7 → 116
      Peptidase_C97; PPPDE putative peptidase domain

    2. NM_016076.5 → NP_057160.2  deubiquitinase DESI2 isoform 1

      See identical proteins and their annotated locations for NP_057160.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL451007, AW135153, BC004485
      Consensus CDS
      CCDS1626.1
      UniProtKB/Swiss-Prot
      B1APK6, Q5VVC6, Q9BSY9, Q9NYS2, Q9Y3E4
      Related
      ENSP00000306528.11, ENST00000302550.16
      Conserved Domains (1) summary
      pfam05903
      Location:7 → 149
      Peptidase_C97; PPPDE putative peptidase domain

    RNA

    1. NR_123735.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site at an internal exon, compared to variant 1. This variant is represented as non-coding because the longest in-frame ORF does not meet RefSeq quality criteria.
      Source sequence(s)
      AL451007, AW135153, BI459676, CN303012

    2. NR_123736.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the longest in-frame ORF does not meet RefSeq quality criteria.
      Source sequence(s)
      AL451007, AW135153, BI459676, CB854052, CN303012

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      244653126..244709033
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421833.1 → XP_047277789.1  deubiquitinase DESI2 isoform X5

    2. XM_011544203.4 → XP_011542505.1  deubiquitinase DESI2 isoform X1

      Conserved Domains (1) summary
      pfam05903
      Location:37 → 166
      Peptidase_C97; PPPDE putative peptidase domain

    3. XM_011544206.4 → XP_011542508.1  deubiquitinase DESI2 isoform X3

      Conserved Domains (1) summary
      pfam05903
      Location:37 → 133
      Peptidase_C97; PPPDE putative peptidase domain

    4. XM_011544207.3 → XP_011542509.1  deubiquitinase DESI2 isoform X4

      Conserved Domains (1) summary
      pfam05903
      Location:13 → 109
      Peptidase_C97; PPPDE putative peptidase domain

    5. XM_011544205.4 → XP_011542507.1  deubiquitinase DESI2 isoform X2

      See identical proteins and their annotated locations for XP_011542507.1

      Conserved Domains (1) summary
      pfam05903
      Location:13 → 142
      Peptidase_C97; PPPDE putative peptidase domain

    RNA

    1. XR_001737208.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      244069385..244125271
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336852.1 → XP_054192827.1  deubiquitinase DESI2 isoform X5

    2. XM_054336848.1 → XP_054192823.1  deubiquitinase DESI2 isoform X1

    3. XM_054336850.1 → XP_054192825.1  deubiquitinase DESI2 isoform X3

    4. XM_054336851.1 → XP_054192826.1  deubiquitinase DESI2 isoform X4

    5. XM_054336849.1 → XP_054192824.1  deubiquitinase DESI2 isoform X2

    RNA

    1. XR_008486060.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BSY9.1 GenPept UniProtKB/Swiss-Prot:Q9BSY9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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