Gene Gene information from NCBI Gene database.
Entrez ID 27351
Gene name Desumoylating isopeptidase 1
Gene symbol DESI1
Synonyms (NCBI Gene)
D15Wsu75eDESI2DJ347H13.4DeSI-1FAM152BPOSTPPPDE2
Chromosome 22
Chromosome location 22q13.2
miRNA miRNA information provided by mirtarbase database.
146
miRTarBase ID miRNA Experiments Reference
MIRT019706 hsa-miR-375 Microarray 20215506
MIRT027140 hsa-miR-103a-3p Sequencing 20371350
MIRT031588 hsa-miR-16-5p Sequencing 20371350
MIRT045472 hsa-miR-149-5p CLASH 23622248
MIRT039862 hsa-miR-615-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 29666234, 32296183
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA 29666234
GO:0006508 Process Proteolysis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614637 24577 ENSG00000100418
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6ICB0
Protein name Desumoylating isopeptidase 1 (DeSI-1) (EC 3.4.-.-) (PPPDE peptidase domain-containing protein 2) (Palmitoyl protein thioesterase DESI1) (EC 3.1.2.22) (Polyubiquitinated substrate transporter) (POST) (S-depalmitoylase DESI1)
Protein 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 prot
PDB 3EBQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05903 Peptidase_C97 7 149 PPPDE putative peptidase domain Domain
Sequence
Sequence length 168
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations