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Protein

Ufm1-specific protease 2

Gene

UFSP2

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

Functioni

Thiol protease which recognizes and hydrolyzes the peptide bond at the C-terminal Gly of UFM1, a ubiquitin-like modifier protein bound to a number of target proteins. Does not hydrolyze SUMO1 or ISG15 ubiquitin-like proteins. Through TRIP4 deufmylation may regulate intracellular nuclear receptors transactivation and thereby regulate cell proliferation and differentiation.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei3021 Publication1
Active sitei426By similarity1
Active sitei428By similarity1

GO - Molecular functioni

  • thiolester hydrolase activity Source: UniProtKB
  • UFM1 hydrolase activity Source: UniProtKB

GO - Biological processi

  • proteolysis Source: UniProtKB
  • regulation of intracellular estrogen receptor signaling pathway Source: UniProtKB

Keywordsi

Molecular functionHydrolase, Protease, Thiol protease
Biological processUbl conjugation pathway

Protein family/group databases

MEROPSiC78.002

Names & Taxonomyi

Protein namesi
Recommended name:
Ufm1-specific protease 2 (EC:3.4.22.-1 Publication)
Short name:
UfSP2
Gene namesi
Name:UFSP2
Synonyms:C4orf20
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000109775.10
HGNCiHGNC:25640 UFSP2
MIMi611482 gene
neXtProtiNX_Q9NUQ7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum, Nucleus

Pathology & Biotechi

Involvement in diseasei

Beukes familial hip dysplasia (BFHD)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe progressive degenerative osteoarthritis of the hip joint with underlying dysplasia confined to that region. Affected individuals are of normal stature and have no associated health problems.
See also OMIM:142669
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_074673290Y → H in BFHD; loss of protease activity toward the C-terminal of UFM1. 1 PublicationCorresponds to variant dbSNP:rs796052130EnsemblClinVar.1
Natural variantiVAR_079708426D → A in BFHD. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi302C → S: Catalytically inactive. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi55325
MalaCardsiUFSP2
MIMi142669 phenotype
OpenTargetsiENSG00000109775
PharmGKBiPA162408529

Polymorphism and mutation databases

BioMutaiUFSP2
DMDMi251757433

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002803621 – 469Ufm1-specific protease 2Add BLAST469

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionine1 Publication1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ9NUQ7
MaxQBiQ9NUQ7
PaxDbiQ9NUQ7
PeptideAtlasiQ9NUQ7
PRIDEiQ9NUQ7

PTM databases

iPTMnetiQ9NUQ7
PhosphoSitePlusiQ9NUQ7

Expressioni

Gene expression databases

BgeeiENSG00000109775
CleanExiHS_UFSP2
ExpressionAtlasiQ9NUQ7 baseline and differential
GenevisibleiQ9NUQ7 HS

Organism-specific databases

HPAiHPA039985
HPA043298

Interactioni

Subunit structurei

Interacts with DDRGK1 (By similarity). Interacts with TRIP4; deufmylates TRIP4 (PubMed:25219498).By similarity1 Publication

Protein-protein interaction databases

BioGridi120606, 76 interactors
IntActiQ9NUQ7, 5 interactors
STRINGi9606.ENSP00000264689

Structurei

3D structure databases

ProteinModelPortaliQ9NUQ7
SMRiQ9NUQ7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the peptidase C78 family.Curated

Phylogenomic databases

eggNOGiKOG2433 Eukaryota
ENOG410XTJE LUCA
GeneTreeiENSGT00520000055644
HOGENOMiHOG000007858
HOVERGENiHBG094132
InParanoidiQ9NUQ7
KOiK01376
OrthoDBiEOG091G04IB
PhylomeDBiQ9NUQ7
TreeFamiTF325896

Family and domain databases

InterProiView protein in InterPro
IPR012462 Peptidase_C78_UfSP1/2
PfamiView protein in Pfam
PF07910 Peptidase_C78, 1 hit

Sequencei

Sequence statusi: Complete.

Q9NUQ7-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MVISESMDIL FRIRGGLDLA FQLATPNEIF LKKALKHVLS DLSTKLSSNA
60 70 80 90 100
LVFRICHSSV YIWPSSDINT IPGELTDASA CKNILRFIQF EPEEDIKRKF
110 120 130 140 150
MRKKDKKLSD MHQIVNIDLM LEMSTSLAAV TPIIERESGG HHYVNMTLPV
160 170 180 190 200
DAVISVAPEE TWGKVRKLLV DAIHNQLTDM EKCILKYMKG TSIVVPEPLH
210 220 230 240 250
FLLPGKKNLV TISYPSGIPD GQLQAYRKEL HDLFNLPHDR PYFKRSNAYH
260 270 280 290 300
FPDEPYKDGY IRNPHTYLNP PNMETGMIYV VQGIYGYHHY MQDRIDDNGW
310 320 330 340 350
GCAYRSLQTI CSWFKHQGYT ERSIPTHREI QQALVDAGDK PATFVGSRQW
360 370 380 390 400
IGSIEVQLVL NQLIGITSKI LFVSQGSEIA SQGRELANHF QSEGTPVMIG
410 420 430 440 450
GGVLAHTILG VAWNEITGQI KFLILDPHYT GAEDLQVILE KGWCGWKGPD
460
FWNKDAYYNL CLPQRPNMI
Length:469
Mass (Da):53,261
Last modified:July 7, 2009 - v3
Checksum:iFC9AF622053F8BBA
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti88I → V in BAA92064 (PubMed:14702039).Curated1
Sequence conflicti232D → G in BAA92064 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03112683N → T1 PublicationCorresponds to variant dbSNP:rs17850669Ensembl.1
Natural variantiVAR_074673290Y → H in BFHD; loss of protease activity toward the C-terminal of UFM1. 1 PublicationCorresponds to variant dbSNP:rs796052130EnsemblClinVar.1
Natural variantiVAR_079708426D → A in BFHD. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK002062 mRNA Translation: BAA92064.1
CR457278 mRNA Translation: CAG33559.1
AC106897 Genomic DNA No translation available.
BC010493 mRNA Translation: AAH10493.1
CCDSiCCDS3842.1
RefSeqiNP_060829.2, NM_018359.3
UniGeneiHs.713548

Genome annotation databases

EnsembliENST00000264689; ENSP00000264689; ENSG00000109775
GeneIDi55325
KEGGihsa:55325
UCSCiuc003ixo.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiUFSP2_HUMAN
AccessioniPrimary (citable) accession number: Q9NUQ7
Secondary accession number(s): Q6IA77, Q96FS3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: July 7, 2009
Last modified: April 25, 2018
This is version 116 of the entry and version 3 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

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