Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Ufm1-specific protease 2

Gene

UFSP2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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)LengthDescriptionGraphical viewFeature identifierActions
Active sitei302 – 30211 Publication
Active sitei426 – 4261By similarity
Active sitei428 – 4281By similarity

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
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Protease, Thiol protease

Keywords - Biological processi

Ubl 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

HGNCiHGNC:25640. UFSP2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum, Nucleus

Pathology & Biotechi

Involvement in diseasei

Beukes familial hip dysplasia (BFHD)1 Publication
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti290 – 2901Y → H in BFHD; loss of protease activity toward the C-terminal of UFM1. 1 Publication
Corresponds to variant rs796052130 [ dbSNP | Ensembl ].
VAR_074673

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi302 – 3021C → S: Catalytically inactive. 1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi142669. phenotype.
PharmGKBiPA162408529.

Polymorphism and mutation databases

BioMutaiUFSP2.
DMDMi251757433.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 469469Ufm1-specific protease 2PRO_0000280362Add
BLAST

Proteomic databases

EPDiQ9NUQ7.
MaxQBiQ9NUQ7.
PaxDbiQ9NUQ7.
PeptideAtlasiQ9NUQ7.
PRIDEiQ9NUQ7.

PTM databases

iPTMnetiQ9NUQ7.
PhosphoSiteiQ9NUQ7.

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. 27 interactions.
IntActiQ9NUQ7. 2 interactions.
STRINGi9606.ENSP00000264689.

Structurei

3D structure databases

ProteinModelPortaliQ9NUQ7.
SMRiQ9NUQ7. Positions 7-469.
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

InterProiIPR012462. Peptidase_C78_UfSP1/2.
[Graphical view]
PfamiPF07910. Peptidase_C78. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti88 – 881I → V in BAA92064 (PubMed:14702039).Curated
Sequence conflicti232 – 2321D → G in BAA92064 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti83 – 831N → T.1 Publication
Corresponds to variant rs17850669 [ dbSNP | Ensembl ].
VAR_031126
Natural varianti290 – 2901Y → H in BFHD; loss of protease activity toward the C-terminal of UFM1. 1 Publication
Corresponds to variant rs796052130 [ dbSNP | Ensembl ].
VAR_074673

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ9NUQ7.
SMRiQ9NUQ7. Positions 7-469.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120606. 27 interactions.
IntActiQ9NUQ7. 2 interactions.
STRINGi9606.ENSP00000264689.

Protein family/group databases

MEROPSiC78.002.

PTM databases

iPTMnetiQ9NUQ7.
PhosphoSiteiQ9NUQ7.

Polymorphism and mutation databases

BioMutaiUFSP2.
DMDMi251757433.

Proteomic databases

EPDiQ9NUQ7.
MaxQBiQ9NUQ7.
PaxDbiQ9NUQ7.
PeptideAtlasiQ9NUQ7.
PRIDEiQ9NUQ7.

Protocols and materials databases

DNASUi55325.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi55325.
GeneCardsiUFSP2.
HGNCiHGNC:25640. UFSP2.
HPAiHPA039985.
HPA043298.
MIMi142669. phenotype.
611482. gene.
neXtProtiNX_Q9NUQ7.
PharmGKBiPA162408529.
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

GenomeRNAii55325.
PROiQ9NUQ7.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000109775.
CleanExiHS_UFSP2.
ExpressionAtlasiQ9NUQ7. baseline and differential.
GenevisibleiQ9NUQ7. HS.

Family and domain databases

InterProiIPR012462. Peptidase_C78_UfSP1/2.
[Graphical view]
PfamiPF07910. Peptidase_C78. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiUFSP2_HUMAN
AccessioniPrimary (citable) accession number: Q9NUQ7
Secondary accession number(s): Q6IA77, Q96FS3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: July 7, 2009
Last modified: September 7, 2016
This is version 106 of the entry and version 3 of the sequence. [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 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Peptidase families
    Classification of peptidase families and list of entries
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.