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DESI2 desumoylating isopeptidase 2 [ Homo sapiens (human) ]

Gene ID: 51029, updated on 27-Nov-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, Nov 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: 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. 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

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