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    DESI1 desumoylating isopeptidase 1 [ Homo sapiens (human) ]

    Gene ID: 27351, updated on 20-Apr-2024

    Summary

    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. 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, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 7.4), esophagus (RPKM 4.9) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    Location:
    22q13.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (41598028..41621043, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (42076960..42099973, complement)
    105.20220307 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

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC138384

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables deSUMOylase 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 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 IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    involved_in protein modification by small protein removal IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    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 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 

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_2023_10

    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