DESI1 (desumoylating isopeptidase 1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 27351 |
| Gene name | Desumoylating isopeptidase 1 |
| Gene symbol | DESI1 |
| Synonyms (NCBI Gene) |
D15Wsu75eDESI2DJ347H13.4DeSI-1FAM152BPOSTPPPDE2
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| Chromosome | 22 |
| Chromosome location | 22q13.2 |
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miRNA
miRNA information provided by mirtarbase database.
146
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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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
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| Sequence |
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| Sequence length | 168 | ||||||||||
| Interactions | View interactions | ||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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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)
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