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Aliases for DESI1 Gene

Aliases for DESI1 Gene

  • Desumoylating Isopeptidase 1 2 3 5
  • Family With Sequence Similarity 152, Member B 2 3
  • PPPDE Peptidase Domain-Containing Protein 2 3 4
  • PPPDE Peptidase Domain Containing 2 2 3
  • FAM152B 3 4
  • PPPDE2 3 4
  • DeSI-1 3 4
  • Desumoylating Isopeptidase 2 3
  • Protein FAM152B 4
  • 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. GO annotations related to this gene include identical protein binding and peptidase activity.

UniProtKB/Swiss-Prot for DESI1 Gene

  • Protease which deconjugates SUMO1, SUMO2 and SUMO3 from some substrate proteins. Has isopeptidase but not SUMO-processing activity. Desumoylates ZBTB46 (By similarity).

Additional gene information for DESI1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DESI1 Gene

Genomics for DESI1 Gene

Regulatory Elements for DESI1 Gene

Enhancers for DESI1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22H041618 1.4 ENCODE dbSUPER 17 +0.5 482 4 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 MEI1 DESI1 EP300 RRP7BP XRCC6 L3MBTL2 POLDIP3 PMM1 ENSG00000235513 CSDC2
GH22H041559 1.5 Ensembl ENCODE dbSUPER 11.5 +58.0 58014 6 HDGF PKNOX1 TCF12 ZNF121 GLIS2 FOS REST ZNF662 ZNF592 MEF2D MEI1 POLR3H CSDC2 DESI1 XRCC6 PHF5A SLC25A17 EP300 RANGAP1 CENPM
GH22H041587 1.1 ENCODE 15.4 +32.1 32077 3 HDGF FOXA2 ARID4B SIN3A ZNF2 YY1 ZNF207 SP3 NFYC REST MEI1 DESI1 RRP7BP CYP2D8P SLC25A17 PMM1 L3MBTL2 ENSG00000235513 GC22M042207
GH22H041831 1.4 ENCODE dbSUPER 11.9 -212.1 -212106 4 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 CYP2D8P MEI1 L3MBTL2 NDUFA6-AS1 CSDC2 CYP2D6 DESI1 RNU6ATAC22P ZC3H7B OGFRP1
GH22H041596 1.1 Ensembl ENCODE 14.7 +23.0 23017 2 HDGF CTCF JUN ARID4B ZNF2 RAD21 TEAD3 FOSL1 HIC1 CC2D1A MEI1 DESI1 PMM1 ENSG00000235513 CSDC2 GC22M042184
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DESI1 on UCSC Golden Path with GeneCards custom track

Promoters for DESI1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000146649 96 2401 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143

Genomic Location for DESI1 Gene

Chromosome:
22
Start:
41,598,028 bp from pter
End:
41,621,096 bp from pter
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.

    Three dimensional structures from OCA and Proteopedia for DESI1 Gene

neXtProt entry for DESI1 Gene

Post-translational modifications for DESI1 Gene

  • Ubiquitination at posLast=1010 and posLast=1818
  • 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:

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. Desumoylates ZBTB46 (By similarity).

Enzyme Numbers (IUBMB) 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

Clone Products

  • Applied Biological Materials Clones for DESI1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Phenotypes From GWAS Catalog , 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.

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
extracellular 1
mitochondrion 1
golgi apparatus 1

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

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

Unigene Clusters for DESI1 Gene

Desumoylating isopeptidase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DESI1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for DESI1 Gene

GeneLoc Exon Structure for
DESI1
ECgene alternative splicing isoforms for
DESI1

Expression for DESI1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for DESI1 Gene



NURSA nuclear receptor signaling pathways regulating expression of DESI1 Gene:

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

Primer Products

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 34
  • 100 (a)
OneToOne
DESI1 33
  • 99.8 (n)
oppossum
(Monodelphis domestica)
Mammalia DESI1 34
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DESI1 34
  • 95 (a)
OneToOne
PPPDE2 33
  • 91.67 (n)
rat
(Rattus norvegicus)
Mammalia Desi1 33
  • 93.25 (n)
mouse
(Mus musculus)
Mammalia Desi1 33 16 34
  • 92.86 (n)
dog
(Canis familiaris)
Mammalia DESI1 33 34
  • 92.26 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DESI1 34
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves DESI1 33 34
  • 78.44 (n)
lizard
(Anolis carolinensis)
Reptilia DESI1 34
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia desi1 33
  • 72.09 (n)
Str.17268 33
zebrafish
(Danio rerio)
Actinopterygii desi1a 33 34
  • 70.99 (n)
desi1b 34 34
  • 69 (a)
OneToMany
zgc73066 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9252 33
bread mold
(Neurospora crassa)
Ascomycetes NCU03714 33
  • 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)

Paralogs for DESI1 Gene

No data available for Paralogs for DESI1 Gene

Variants for DESI1 Gene

Sequence variations from dbSNP and Humsavar for DESI1 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs1000161228 -- 41,598,632(+) GGAAG(A/G)GGAGA utr-variant-3-prime
rs1000186875 -- 41,598,345(+) ATGAG(G/T)ATGGG utr-variant-3-prime
rs1000268530 -- 41,604,956(+) TGATT(C/T)TCTTG intron-variant
rs1000342364 -- 41,604,657(+) GCTTC(C/T)CTGAG intron-variant
rs1000452511 -- 41,611,219(+) CCGCC(C/T)CCTGG intron-variant

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)

Relevant External Links for DESI1 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DESI1 Gene

Disorders for DESI1 Gene

Relevant External Links for DESI1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. DeSUMOylating isopeptidase: a second class of SUMO protease. (PMID: 22370726) Shin EJ … Yun Y (EMBO reports 2012) 2 3 60
  2. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4 60
  3. Large-scale concatenation cDNA sequencing. (PMID: 9110174) Yu W … Gibbs RA (Genome research 1997) 2 3 60
  4. A "double adaptor" method for improved shotgun library construction. (PMID: 8619474) Andersson B … Gibbs RA (Analytical biochemistry 1996) 2 3 60
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 60

Products for DESI1 Gene

Sources for DESI1 Gene

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