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DESI1 desumoylating isopeptidase 1 [ Homo sapiens (human) ]

Gene ID: 27351, updated on 5-Jul-2025
Official Symbol
DESI1provided by HGNC
Official Full Name
desumoylating isopeptidase 1provided by HGNC
Primary source
HGNC:HGNC:24577
See related
Ensembl:ENSG00000100418 MIM:614637; AllianceGenome:HGNC:24577
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
POST; DESI2; DeSI-1; PPPDE2; FAM152B; D15Wsu75e; DJ347H13.4
Summary
Enables importin-alpha family protein binding activity and long-chain fatty acyl-CoA hydrolase activity. Involved in protein export from nucleus and regulation of proteasomal ubiquitin-dependent protein catabolic process. Located in cytosol. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jul 2025]
Expression
Ubiquitous expression in testis (RPKM 7.4), esophagus (RPKM 4.9) and 25 other tissues See more
Orthologs
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See DESI1 in Genome Data Viewer
Location:
22q13.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (41598028..41621043, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (42076960..42099973, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (41994032..42017047, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 3167 Neighboring gene cold shock domain containing C2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41984969-41985648 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13794 Neighboring gene phosphomannomutase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19122 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19123 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19124 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42016465-42017066 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42026409-42027062 Neighboring gene X-ray repair cross complementing 6 Neighboring gene protein LLP homolog Neighboring gene small nuclear ribonucleoprotein 13

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
Products Interactant Other Gene Complex Source Pubs Description

Markers

Clone Names

  • MGC138384

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables deSUMOylase activity IEA
Inferred from Electronic Annotation
more info
 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
 
enables importin-alpha family protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables long-chain fatty acyl-CoA hydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables palmitoyl-(protein) hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
enables peptidase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in macromolecule depalmitoylation IEA
Inferred from Electronic Annotation
more info
 
involved_in protein desumoylation IEA
Inferred from Electronic Annotation
more info
 
involved_in protein export from nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in protein export from nucleus IPI
Inferred from Physical Interaction
more info
PubMed 
involved_in proteolysis IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of proteasomal ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in regulation of proteasomal ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
desumoylating isopeptidase 1
Names
PPPDE peptidase domain containing 2
PPPDE peptidase domain-containing protein 2
S-depalmitoylase DESI1
desumoylating isopeptidase 2
family with sequence similarity 152, member B
palmitoyl protein thioesterase DESI1
polyubiquitinated substrate transporter
NP_056519.1
XP_047297291.1
XP_054181532.1

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_015704.3NP_056519.1  desumoylating isopeptidase 1

    See identical proteins and their annotated locations for NP_056519.1

    Status: VALIDATED

    Source sequence(s)
    AL023553, BC039554, BC093956, BX403547, BX478162
    Consensus CDS
    CCDS33652.1
    UniProtKB/Swiss-Prot
    Q6ICB0
    Related
    ENSP00000263256.6, ENST00000263256.7
    Conserved Domains (1) summary
    pfam05903
    Location:7149
    Peptidase_C97; PPPDE putative peptidase domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    41598028..41621043 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047441335.1XP_047297291.1  desumoylating isopeptidase 1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    42076960..42099973 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054325557.1XP_054181532.1  desumoylating isopeptidase 1 isoform X1