Aliases for DESI1 Gene

Aliases for DESI1 Gene

  • Desumoylating Isopeptidase 1 2 3 4 5
  • Family With Sequence Similarity 152, Member B 2 3
  • PPPDE Peptidase Domain-Containing Protein 2 3 4
  • Polyubiquitinated Substrate Transporter 3 4
  • PPPDE Peptidase Domain Containing 2 2 3
  • FAM152B 3 4
  • PPPDE2 3 4
  • DeSI-1 3 4
  • POST 3 4
  • Desumoylating Isopeptidase 2 3
  • DJ347H13.4 3
  • EC 3.4.-.- 4
  • D15Wsu75e 3
  • DESI2 3

External Ids for DESI1 Gene

Previous HGNC Symbols for DESI1 Gene

  • FAM152B
  • PPPDE2

Previous GeneCards Identifiers for DESI1 Gene

  • GC22M041995

Summaries for DESI1 Gene

GeneCards Summary for DESI1 Gene

DESI1 (Desumoylating Isopeptidase 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include identical protein binding and peptidase activity. An important paralog of this gene is DESI2.

UniProtKB/Swiss-Prot Summary for DESI1 Gene

  • Protease which deconjugates SUMO1, SUMO2 and SUMO3 from some substrate proteins. Has isopeptidase but not SUMO-processing activity (By similarity). Desumoylates ZBTB46 (By similarity). Collaborates with UBQLN4 in the export of ubiquitinated proteins from the nucleus to the cytoplasm (PubMed:29666234).

Additional gene information for DESI1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DESI1 Gene

Genomics for DESI1 Gene

GeneHancer (GH) Regulatory Elements for DESI1 Gene

Promoters and enhancers for DESI1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DESI1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DESI1

Genomic Locations for DESI1 Gene

Genomic Locations for DESI1 Gene
chr22:41,598,028-41,621,061
(GRCh38/hg38)
Size:
23,034 bases
Orientation:
Minus strand
chr22:41,994,032-42,017,100
(GRCh37/hg19)
Size:
23,069 bases
Orientation:
Minus strand

Genomic View for DESI1 Gene

Genes around DESI1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DESI1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DESI1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DESI1 Gene

Proteins for DESI1 Gene

  • Protein details for DESI1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ICB0-DESI1_HUMAN
    Recommended name:
    Desumoylating isopeptidase 1
    Protein Accession:
    Q6ICB0

    Protein attributes for DESI1 Gene

    Size:
    168 amino acids
    Molecular mass:
    18263 Da
    Quaternary structure:
    • Homodimer (By similarity). Interacts with UBQLN4; leading to the export of UBQLN4 from the nucleus (PubMed:29666234).

    Three dimensional structures from OCA and Proteopedia for DESI1 Gene

neXtProt entry for DESI1 Gene

Post-translational modifications for DESI1 Gene

  • Ubiquitination at Lys10 and Lys18
  • Modification sites at PhosphoSitePlus

Other Protein References for DESI1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DESI1 Gene

Domains & Families for DESI1 Gene

Gene Families for DESI1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for DESI1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DESI1 Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM152B (PPDE2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6ICB0

UniProtKB/Swiss-Prot:

DESI1_HUMAN :
  • Belongs to the DeSI family.
Family:
  • Belongs to the DeSI family.
genes like me logo Genes that share domains with DESI1: view

Function for DESI1 Gene

Molecular function for DESI1 Gene

UniProtKB/Swiss-Prot Function:
Protease which deconjugates SUMO1, SUMO2 and SUMO3 from some substrate proteins. Has isopeptidase but not SUMO-processing activity (By similarity). Desumoylates ZBTB46 (By similarity). Collaborates with UBQLN4 in the export of ubiquitinated proteins from the nucleus to the cytoplasm (PubMed:29666234).

Enzyme Numbers (IUBMB) for DESI1 Gene

Phenotypes From GWAS Catalog for DESI1 Gene

Gene Ontology (GO) - Molecular Function for DESI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008233 peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0042802 identical protein binding IEA --
genes like me logo Genes that share ontologies with DESI1: view
genes like me logo Genes that share phenotypes with DESI1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for DESI1

CRISPR Products

miRNA for DESI1 Gene

miRTarBase miRNAs that target DESI1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DESI1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DESI1 Gene

Localization for DESI1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DESI1 Gene

Cytoplasm. Nucleus. Note=Shuttles between the nucleus and the cytoplasm; exported from the nucleus in a XPO1/CRM1-dependent manner via its nuclear export signal motifs. {ECO:0000269 PubMed:29666234}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DESI1 gene
Compartment Confidence
nucleus 4
cytosol 3
plasma membrane 1
cytoskeleton 1
endoplasmic reticulum 1
extracellular 0
mitochondrion 0
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytokinetic bridge (2)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DESI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with DESI1: view

Pathways & Interactions for DESI1 Gene

PathCards logo

SuperPathways for DESI1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DESI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
genes like me logo Genes that share ontologies with DESI1: view

No data available for Pathways by source and SIGNOR curated interactions for DESI1 Gene

Drugs & Compounds for DESI1 Gene

(1) Drugs for DESI1 Gene - From: ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NSC 632839 hydrochloride Pharma Isopeptidases inhibitor 0

(1) ApexBio Compounds for DESI1 Gene

Compound Action Cas Number
NSC 632839 hydrochloride Isopeptidases inhibitor 157654-67-6
genes like me logo Genes that share compounds with DESI1: view

Drug Products

Transcripts for DESI1 Gene

mRNA/cDNA for DESI1 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DESI1

Alternative Splicing Database (ASD) splice patterns (SP) for DESI1 Gene

No ASD Table

Relevant External Links for DESI1 Gene

GeneLoc Exon Structure for
DESI1

Expression for DESI1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DESI1 Gene

Protein differential expression in normal tissues from HIPED for DESI1 Gene

This gene is overexpressed in Plasma (43.1), Esophagus (12.6), and Ovary (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DESI1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DESI1

SOURCE GeneReport for Unigene cluster for DESI1 Gene:

Hs.570455

Evidence on tissue expression from TISSUES for DESI1 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with DESI1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DESI1 Gene

Orthologs for DESI1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DESI1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PPPDE2 31
  • 100 (a)
OneToOne
DESI1 30
  • 99.8 (n)
oppossum
(Monodelphis domestica)
Mammalia DESI1 31
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DESI1 31
  • 95 (a)
OneToOne
PPPDE2 30
  • 91.67 (n)
rat
(Rattus norvegicus)
Mammalia Desi1 30
  • 93.25 (n)
mouse
(Mus musculus)
Mammalia Desi1 17 31 30
  • 92.86 (n)
dog
(Canis familiaris)
Mammalia DESI1 31 30
  • 92.26 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DESI1 31
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves DESI1 31 30
  • 78.44 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DESI1 31
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia desi1 30
  • 72.09 (n)
Str.17268 30
zebrafish
(Danio rerio)
Actinopterygii desi1a 31 30
  • 70.99 (n)
OneToMany
desi1b 31 31
  • 69 (a)
OneToMany
zgc73066 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9252 30
bread mold
(Neurospora crassa)
Ascomycetes NCU03714 30
  • 52.48 (n)
Species where no ortholog for DESI1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DESI1 Gene

ENSEMBL:
Gene Tree for DESI1 (if available)
TreeFam:
Gene Tree for DESI1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DESI1: view image

Paralogs for DESI1 Gene

Paralogs for DESI1 Gene

genes like me logo Genes that share paralogs with DESI1: view

Variants for DESI1 Gene

Additional dbSNP identifiers (rs#s) for DESI1 Gene

Structural Variations from Database of Genomic Variants (DGV) for DESI1 Gene

Variant ID Type Subtype PubMed ID
nsv1055166 CNV gain 25217958
nsv1136682 CNV deletion 24896259
nsv3639 CNV insertion 18451855
nsv524585 CNV loss 19592680
nsv834209 CNV loss 17160897

Variation tolerance for DESI1 Gene

Residual Variation Intolerance Score: 52.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.19; 4.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DESI1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DESI1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DESI1 Gene

Disorders for DESI1 Gene

Additional Disease Information for DESI1

No disorders were found for DESI1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DESI1 Gene

Publications for DESI1 Gene

  1. Nuclear export of ubiquitinated proteins via the UBIN-POST system. (PMID: 29666234) Hirayama S … Nagata K (Proceedings of the National Academy of Sciences of the United States of America 2018) 3 4 54
  2. DeSUMOylating isopeptidase: a second class of SUMO protease. (PMID: 22370726) Shin EJ … Yun Y (EMBO reports 2012) 2 3 54
  3. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4 54
  4. Large-scale concatenation cDNA sequencing. (PMID: 9110174) Yu W … Gibbs RA (Genome research 1997) 2 3 54
  5. A "double adaptor" method for improved shotgun library construction. (PMID: 8619474) Andersson B … Gibbs RA (Analytical biochemistry 1996) 2 3 54

Products for DESI1 Gene

Sources for DESI1 Gene