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Protein

Deubiquitinase DESI2

Gene

DESI2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Has deubiquitinating activity towards 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. Deubiquitinates 'Lys-48'-linked polyubiquitination of RPS7 leading to its stabilization (PubMed:28483520).1 Publication

Catalytic activityi

Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei30PROSITE-ProRule annotation1
Active sitei108PROSITE-ProRule annotation1 Publication1

GO - Molecular functioni

  • Lys48-specific deubiquitinase activity Source: UniProtKB
  • Lys63-specific deubiquitinase activity Source: UniProtKB
  • thiol-dependent ubiquitinyl hydrolase activity Source: UniProtKB-EC

Keywordsi

Molecular functionHydrolase, Protease
Biological processUbl conjugation pathway

Protein family/group databases

MEROPSiC97.002

Names & Taxonomyi

Protein namesi
Recommended name:
Deubiquitinase DESI2Curated (EC:3.4.19.121 Publication)
Alternative name(s):
Desumoylating isopeptidase 2
Short name:
DeSI-2
PPPDE peptidase domain-containing protein 11 Publication
Protein FAM152A
Gene namesi
Name:DESI2
Synonyms:C1orf121, FAM152A, PPPDE11 Publication
ORF Names:CGI-146, PNAS-4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000121644.18
HGNCiHGNC:24264 DESI2
MIMi614638 gene
neXtProtiNX_Q9BSY9

Subcellular locationi

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi108C → S: Loss of deubiquitination activity. 1 Publication1

Organism-specific databases

DisGeNETi51029
OpenTargetsiENSG00000121644
PharmGKBiPA164724993

Polymorphism and mutation databases

BioMutaiDESI2
DMDMi51827943

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002216301 – 194Deubiquitinase DESI2Add BLAST194

Proteomic databases

EPDiQ9BSY9
MaxQBiQ9BSY9
PaxDbiQ9BSY9
PeptideAtlasiQ9BSY9
PRIDEiQ9BSY9

PTM databases

iPTMnetiQ9BSY9
PhosphoSitePlusiQ9BSY9
SwissPalmiQ9BSY9

Expressioni

Gene expression databases

BgeeiENSG00000121644
ExpressionAtlasiQ9BSY9 baseline and differential
GenevisibleiQ9BSY9 HS

Organism-specific databases

HPAiHPA049950

Interactioni

Subunit structurei

Interacts with RPS7.1 Publication

Protein-protein interaction databases

BioGridi119235, 3 interactors
IntActiQ9BSY9, 1 interactor
STRINGi9606.ENSP00000306528

Structurei

3D structure databases

ProteinModelPortaliQ9BSY9
SMRiQ9BSY9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini5 – 149PPPDEPROSITE-ProRule annotationAdd BLAST145

Sequence similaritiesi

Belongs to the DeSI family.Curated

Phylogenomic databases

eggNOGiKOG0324 Eukaryota
ENOG4111H3Z LUCA
GeneTreeiENSGT00730000111005
HOGENOMiHOG000241907
InParanoidiQ9BSY9
OMAiRTGRHTK
OrthoDBiEOG091G0KPX
PhylomeDBiQ9BSY9
TreeFamiTF313188

Family and domain databases

InterProiView protein in InterPro
IPR008580 PPPDE_dom
PANTHERiPTHR12378 PTHR12378, 1 hit
PfamiView protein in Pfam
PF05903 Peptidase_C97, 1 hit
SMARTiView protein in SMART
SM01179 DUF862, 1 hit
PROSITEiView protein in PROSITE
PS51858 PPPDE, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9BSY9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGANQLVVLN VYDMYWMNEY TSSIGIGVFH SGIEVYGREF AYGGHPYPFS
60 70 80 90 100
GIFEISPGNA SELGETFKFK EAVVLGSTDF LEDDIEKIVE ELGKEYKGNA
110 120 130 140 150
YHLMHKNCNH FSSALSEILC GKEIPRWINR LAYFSSCIPF LQSCLPKEWL
160 170 180 190
TPAALQSSVS QELQDELEEA EDAAASASVA STAAGSRPGR HTKL
Length:194
Mass (Da):21,444
Last modified:June 1, 2001 - v1
Checksum:i9EADC1A33642EFFF
GO
Isoform 2 (identifier: Q9BSY9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     39-71: Missing.

Note: No experimental confirmation available.
Show »
Length:161
Mass (Da):17,808
Checksum:iD51A8879C5E71BEA
GO

Sequence cautioni

The sequence AAD34141 differs from that shown. Reason: Frameshift at positions 149 and 175.Curated
The sequence AAF42919 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti180A → V in AAF42919 (Ref. 1) Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_01142239 – 71Missing in isoform 2. 1 PublicationAdd BLAST33

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF229834 mRNA Translation: AAF42919.1 Different initiation.
AF151904 mRNA Translation: AAD34141.1 Frameshift.
AC099757 Genomic DNA No translation available.
AL451007 Genomic DNA No translation available.
CH471148 Genomic DNA Translation: EAW77114.1
CH471148 Genomic DNA Translation: EAW77116.1
BC004485 mRNA Translation: AAH04485.1
CCDSiCCDS1626.1 [Q9BSY9-1]
CCDS73055.1 [Q9BSY9-2]
RefSeqiNP_001284675.1, NM_001297746.1 [Q9BSY9-2]
NP_057160.2, NM_016076.4 [Q9BSY9-1]
UniGeneiHs.498317

Genome annotation databases

EnsembliENST00000263831; ENSP00000263831; ENSG00000121644 [Q9BSY9-2]
ENST00000302550; ENSP00000306528; ENSG00000121644 [Q9BSY9-1]
GeneIDi51029
KEGGihsa:51029
UCSCiuc001iao.4 human [Q9BSY9-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiDESI2_HUMAN
AccessioniPrimary (citable) accession number: Q9BSY9
Secondary accession number(s): B1APK6
, Q5VVC6, Q9NYS2, Q9Y3E4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 31, 2004
Last sequence update: June 1, 2001
Last modified: May 23, 2018
This is version 119 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

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