• Gene id: 27351

Gene Summary

• Gene Symbol: DESI1   Gene   UCSC   Ensembl
• Aliases: D15Wsu75e, DESI2, DJ347H13.4, DeSI-1, FAM152B, POST, PPPDE2
• Gene name: desumoylating isopeptidase 1
• Alternate names: desumoylating isopeptidase 1, PPPDE peptidase domain containing 2, PPPDE peptidase domain-containing protein 2, desumoylating isopeptidase 2, family with sequence similarity 152, member B, polyubiquitinated substrate transporter,
• Gene location: 22q13.2 (41621076: 41598027)     Exons: 15     NC_000022.11
• OMIM: 614637

SNPs

rs2267437

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.41620695C>A
NC_000022.11   g.41620695C>G
NC_000022.10   g.42016699C>A
NC_000022.10   g.42016699C>G|SEQ=[C/A/G]|GENE=XRCC6
DESI1   27351

Protein Summary

• Protein general information: Q6ICB0  
  • Name: Desumoylating isopeptidase 1 (DeSI 1) (EC 3.4. . ) (PPPDE peptidase domain containing protein 2) (Polyubiquitinated substrate transporter) (POST)
  • Length: 168  
  • Mass: 18263
• Sequence:

  MEPPNLYPVKLYVYDLSKGLARRLSPIMLGKQLEGIWHTSIVVHKDEFFFGSGGISSCPPGGTLLGPPDSVVDVG
  STEVTEEIFLEYLSSLGESLFRGEAYNLFEHNCNTFSNEVAQFLTGRKIPSYITDLPSEVLSTPFGQALRPLLDS
  IQIQPPGGSSVGRPNGQS

• Structural information:
  • Protein Domains: (7..14-)
    (/note="PPPDE-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01205"-)
  • Interpro: IPR008580  IPR042266  
  • Prosite: PS51858
  • PDB: 3EBQ
  • PDBsum: 3EBQ
  • STRING: ENSP00000263256
• Other Databases: GeneCards:  DESI1  Malacards:  DESI1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070646	protein modification by small protein removal	IBA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042802	identical protein binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0032434	regulation of proteasomal ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0032991	protein-containing complex	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0061676	importin-alpha family protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006611	protein export from nucleus	IPI	biological process

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R