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DESI2 desumoylating isopeptidase 2 [ Homo sapiens (human) ]

Gene ID: 51029, updated on 26-Oct-2020

Summary

Official Symbol
DESI2provided by HGNC
Official Full Name
desumoylating isopeptidase 2provided by HGNC
Primary source
HGNC:HGNC:24264
See related
Ensembl:ENSG00000121644 MIM:614638
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
DESI; DESI1; DeSI-2; PNAS-4; PPPDE1; CGI-146; FAM152A; C1orf121
Expression
Broad expression in testis (RPKM 26.2), thyroid (RPKM 11.1) and 24 other tissues See more
Orthologs

Genomic context

See DESI2 in Genome Data Viewer
Location:
1q44
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (244652760..244709033)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (244816352..244872335)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373264 Neighboring gene adenylosuccinate synthase 2 Neighboring gene catsper channel auxiliary subunit epsilon Neighboring gene CYCS pseudogene 5 Neighboring gene ribosomal protein L37 pseudogene 8 Neighboring gene uncharacterized LOC107985372 Neighboring gene uncharacterized LOC112268258

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

Homology

Clone Names

  • FLJ21998

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Lys48-specific deubiquitinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Lys63-specific deubiquitinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
thiol-dependent ubiquitin-specific protease activity IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitinyl hydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
protein K48-linked deubiquitination IEA
Inferred from Electronic Annotation
more info
 
protein K63-linked deubiquitination IEA
Inferred from Electronic Annotation
more info
 
protein deubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein modification by small protein removal IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
deubiquitinase DESI2
Names
PPPDE peptidase domain-containing protein 1
desumoylating isopeptidase 1
family with sequence similarity 152, member A
NP_001284675.1
NP_057160.2
XP_011542505.1
XP_011542507.1
XP_011542508.1
XP_011542509.1

NCBI Reference Sequences (RefSeq)

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_001297746.2NP_001284675.1  deubiquitinase DESI2 isoform 2

    See identical proteins and their annotated locations for NP_001284675.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon and uses an alternate splice site, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AF229834, AL451007, AW135153, BI459676, CN303012
    Consensus CDS
    CCDS73055.1
    UniProtKB/Swiss-Prot
    Q9BSY9
    UniProtKB/TrEMBL
    A0A024R5P9
    Related
    ENSP00000263831.7, ENST00000263831.11
    Conserved Domains (1) summary
    pfam05903
    Location:7116
    Peptidase_C97; PPPDE putative peptidase domain
  2. NM_016076.5NP_057160.2  deubiquitinase DESI2 isoform 1

    See identical proteins and their annotated locations for NP_057160.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL451007, AW135153, BC004485
    Consensus CDS
    CCDS1626.1
    UniProtKB/Swiss-Prot
    Q9BSY9
    UniProtKB/TrEMBL
    A0A024R5P6
    Related
    ENSP00000306528.11, ENST00000302550.16
    Conserved Domains (1) summary
    pfam05903
    Location:7149
    Peptidase_C97; PPPDE putative peptidase domain

RNA

  1. NR_123735.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site at an internal exon, compared to variant 1. This variant is represented as non-coding because the longest in-frame ORF does not meet RefSeq quality criteria.
    Source sequence(s)
    AL451007, AW135153, BI459676, CN303012
  2. NR_123736.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the longest in-frame ORF does not meet RefSeq quality criteria.
    Source sequence(s)
    AL451007, AW135153, BI459676, CB854052, CN303012

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    244652760..244709033
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544203.3XP_011542505.1  deubiquitinase DESI2 isoform X1

    Conserved Domains (1) summary
    pfam05903
    Location:37166
    Peptidase_C97; PPPDE putative peptidase domain
  2. XM_011544206.3XP_011542508.1  deubiquitinase DESI2 isoform X3

    Conserved Domains (1) summary
    pfam05903
    Location:37133
    Peptidase_C97; PPPDE putative peptidase domain
  3. XM_011544207.2XP_011542509.1  deubiquitinase DESI2 isoform X4

    Conserved Domains (1) summary
    pfam05903
    Location:13109
    Peptidase_C97; PPPDE putative peptidase domain
  4. XM_011544205.3XP_011542507.1  deubiquitinase DESI2 isoform X2

    See identical proteins and their annotated locations for XP_011542507.1

    Conserved Domains (1) summary
    pfam05903
    Location:13142
    Peptidase_C97; PPPDE putative peptidase domain

RNA

  1. XR_001737208.2 RNA Sequence

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