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Protein

Ubiquitin carboxyl-terminal hydrolase 48

Gene

USP48

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Recognizes and hydrolyzes the peptide bond at the C-terminal Gly of ubiquitin. Involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins. May be involved in the regulation of NF-kappa-B activation by TNF receptor superfamily via its interactions with RELA and TRAF2. May also play a regulatory role at postsynaptic sites.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 sitei98NucleophilePROSITE-ProRule annotation1
Active sitei353Proton acceptorPROSITE-ProRule annotation1

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Protease, Thiol protease

Keywords - Biological processi

Ubl conjugation pathway

Enzyme and pathway databases

BioCyciZFISH:HS01704-MONOMER.
ReactomeiR-HSA-5689880. Ub-specific processing proteases.

Protein family/group databases

MEROPSiC19.068.

Names & Taxonomyi

Protein namesi
Recommended name:
Ubiquitin carboxyl-terminal hydrolase 48 (EC:3.4.19.12)
Alternative name(s):
Deubiquitinating enzyme 48
Ubiquitin thioesterase 48
Ubiquitin-specific-processing protease 48
Gene namesi
Name:USP48
Synonyms:USP31
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:18533. USP48.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi84196.
OpenTargetsiENSG00000090686.
PharmGKBiPA134947522.

Polymorphism and mutation databases

BioMutaiUSP48.
DMDMi74750436.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002495231 – 1035Ubiquitin carboxyl-terminal hydrolase 48Add BLAST1035

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei886PhosphoserineCombined sources1
Modified residuei887PhosphoserineCombined sources1
Modified residuei888PhosphoserineCombined sources1
Modified residuei956N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ86UV5.
MaxQBiQ86UV5.
PaxDbiQ86UV5.
PeptideAtlasiQ86UV5.
PRIDEiQ86UV5.

PTM databases

iPTMnetiQ86UV5.
PhosphoSitePlusiQ86UV5.

Expressioni

Tissue specificityi

Widely expressed.3 Publications

Gene expression databases

BgeeiENSG00000090686.
CleanExiHS_USP31.
HS_USP48.
ExpressionAtlasiQ86UV5. baseline and differential.
GenevisibleiQ86UV5. HS.

Organism-specific databases

HPAiHPA030045.
HPA030046.
HPA053976.

Interactioni

Subunit structurei

Interacts with TRAF2 and RELA.1 Publication

Protein-protein interaction databases

BioGridi123941. 33 interactors.
IntActiQ86UV5. 3 interactors.
MINTiMINT-7944238.
STRINGi9606.ENSP00000309262.

Structurei

3D structure databases

ProteinModelPortaliQ86UV5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini89 – 421USPAdd BLAST333
Domaini460 – 554DUSP 1PROSITE-ProRule annotationAdd BLAST95
Domaini569 – 691DUSP 2PROSITE-ProRule annotationAdd BLAST123
Domaini711 – 824DUSP 3PROSITE-ProRule annotationAdd BLAST114
Domaini929 – 1009Ubiquitin-likePROSITE-ProRule annotationAdd BLAST81

Sequence similaritiesi

Belongs to the peptidase C19 family.Curated
Contains 3 DUSP domains.PROSITE-ProRule annotation
Contains 1 ubiquitin-like domain.PROSITE-ProRule annotation
Contains 1 USP domain.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG1863. Eukaryota.
COG5077. LUCA.
GeneTreeiENSGT00760000119158.
HOGENOMiHOG000231639.
HOVERGENiHBG080368.
InParanoidiQ86UV5.
KOiK11858.
OMAiMGDGIQE.
OrthoDBiEOG091G00SZ.
PhylomeDBiQ86UV5.
TreeFamiTF106280.

Family and domain databases

CDDicd02668. Peptidase_C19L. 1 hit.
Gene3Di3.30.2230.10. 1 hit.
InterProiIPR006615. Pept_C19_DUSP.
IPR001394. Peptidase_C19_UCH.
IPR029071. Ubiquitin-rel_dom.
IPR000626. Ubiquitin_dom.
IPR033841. USP48.
IPR018200. USP_CS.
IPR028889. USP_dom.
[Graphical view]
PfamiPF00443. UCH. 1 hit.
[Graphical view]
SUPFAMiSSF143791. SSF143791. 1 hit.
SSF54236. SSF54236. 1 hit.
PROSITEiPS51283. DUSP. 3 hits.
PS50053. UBIQUITIN_2. 1 hit.
PS00973. USP_2. 1 hit.
PS50235. USP_3. 1 hit.
[Graphical view]

Sequences (8)i

Sequence statusi: Complete.

This entry describes 8 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q86UV5-1) [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
MAPRLQLEKA AWRWAETVRP EEVSQEHIET AYRIWLEPCI RGVCRRNCKG
60 70 80 90 100
NPNCLVGIGE HIWLGEIDEN SFHNIDDPNC ERRKKNSFVG LTNLGATCYV
110 120 130 140 150
NTFLQVWFLN LELRQALYLC PSTCSDYMLG DGIQEEKDYE PQTICEHLQY
160 170 180 190 200
LFALLQNSNR RYIDPSGFVK ALGLDTGQQQ DAQEFSKLFM SLLEDTLSKQ
210 220 230 240 250
KNPDVRNIVQ QQFCGEYAYV TVCNQCGRES KLLSKFYELE LNIQGHKQLT
260 270 280 290 300
DCISEFLKEE KLEGDNRYFC ENCQSKQNAT RKIRLLSLPC TLNLQLMRFV
310 320 330 340 350
FDRQTGHKKK LNTYIGFSEI LDMEPYVEHK GGSYVYELSA VLIHRGVSAY
360 370 380 390 400
SGHYIAHVKD PQSGEWYKFN DEDIEKMEGK KLQLGIEEDL AEPSKSQTRK
410 420 430 440 450
PKCGKGTHCS RNAYMLVYRL QTQEKPNTTV QVPAFLQELV DRDNSKFEEW
460 470 480 490 500
CIEMAEMRKQ SVDKGKAKHE EVKELYQRLP AGAEPYEFVS LEWLQKWLDE
510 520 530 540 550
STPTKPIDNH ACLCSHDKLH PDKISIMKRI SEYAADIFYS RYGGGPRLTV
560 570 580 590 600
KALCKECVVE RCRILRLKNQ LNEDYKTVNN LLKAAVKGSD GFWVGKSSLR
610 620 630 640 650
SWRQLALEQL DEQDGDAEQS NGKMNGSTLN KDESKEERKE EEELNFNEDI
660 670 680 690 700
LCPHGELCIS ENERRLVSKE AWSKLQQYFP KAPEFPSYKE CCSQCKILER
710 720 730 740 750
EGEENEALHK MIANEQKTSL PNLFQDKNRP CLSNWPEDTD VLYIVSQFFV
760 770 780 790 800
EEWRKFVRKP TRCSPVSSVG NSALLCPHGG LMFTFASMTK EDSKLIALIW
810 820 830 840 850
PSEWQMIQKL FVVDHVIKIT RIEVGDVNPS ETQYISEPKL CPECREGLLC
860 870 880 890 900
QQQRDLREYT QATIYVHKVV DNKKVMKDSA PELNVSSSET EEDKEEAKPD
910 920 930 940 950
GEKDPDFNQS NGGTKRQKIS HQNYIAYQKQ VIRRSMRHRK VRGEKALLVS
960 970 980 990 1000
ANQTLKELKI QIMHAFSVAP FDQNLSIDGK ILSDDCATLG TLGVIPESVI
1010 1020 1030
LLKADEPIAD YAAMDDVMQV CMPEEGFKGT GLLGH
Length:1,035
Mass (Da):119,032
Last modified:June 1, 2003 - v1
Checksum:i6F7DAF88527E2627
GO
Isoform 2 (identifier: Q86UV5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     909-960: Missing.

Note: No experimental confirmation available.
Show »
Length:983
Mass (Da):112,959
Checksum:iB19F5EC40029858F
GO
Isoform 3 (identifier: Q86UV5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     704-1035: Missing.

Note: No experimental confirmation available.
Show »
Length:703
Mass (Da):81,449
Checksum:iA7608F78005CF98D
GO
Isoform 4 (identifier: Q86UV5-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     369-392: FNDEDIEKMEGKKLQLGIEEDLAE → LILNTNYHLPPSPKPIKIKNYNKP
     393-1035: Missing.

Note: No experimental confirmation available.
Show »
Length:392
Mass (Da):45,481
Checksum:i675B208E4EFA5350
GO
Isoform 5 (identifier: Q86UV5-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-469: Missing.
     470-483: EEVKELYQRLPAGA → MNLSLSQKTVKIHRLFPMLAFS
     589-589: Missing.
     909-960: Missing.

Note: No experimental confirmation available.Curated
Show »
Length:521
Mass (Da):59,454
Checksum:i20D3FA1221CF6383
GO
Isoform 6 (identifier: Q86UV5-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-875: Missing.
     1020-1035: VCMPEEGFKGTGLLGH → GKDEFVLGIC

Note: No experimental confirmation available.
Show »
Length:154
Mass (Da):17,094
Checksum:iC8309D66B49A9AF6
GO
Isoform 7 (identifier: Q86UV5-7) [UniParc]FASTAAdd to basket
Also known as: USP31S1

The sequence of this isoform differs from the canonical sequence as follows:
     484-485: EP → GL
     486-1035: Missing.

Show »
Length:485
Mass (Da):56,151
Checksum:iE519B70ABF229820
GO
Isoform 8 (identifier: Q86UV5-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     391-391: Missing.
     654-654: H → HAVFFFSKYIFLNS

Note: No experimental confirmation available.
Show »
Length:1,047
Mass (Da):120,526
Checksum:i6DD9F285164E7ADD
GO

Sequence cautioni

The sequence AAH13567 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAH67261 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence AAI03725 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence BAA92128 differs from that shown. Reason: Erroneous initiation.Curated
Isoform 5 : The sequence BAB15533 differs from that shown. Reason: Frameshift at position 109.Curated
The sequence CAI12124 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI16260 differs from that shown. Reason: Erroneous gene model prediction.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_027427125S → C.Corresponds to variant rs4253886dbSNPEnsembl.1
Natural variantiVAR_027428135E → K.Corresponds to variant rs12097805dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0204711 – 875Missing in isoform 6. 1 PublicationAdd BLAST875
Alternative sequenceiVSP_0204721 – 469Missing in isoform 5. 1 PublicationAdd BLAST469
Alternative sequenceiVSP_020473369 – 392FNDED…EDLAE → LILNTNYHLPPSPKPIKIKN YNKP in isoform 4. 1 PublicationAdd BLAST24
Alternative sequenceiVSP_054487391Missing in isoform 8. 1 Publication1
Alternative sequenceiVSP_020474393 – 1035Missing in isoform 4. 1 PublicationAdd BLAST643
Alternative sequenceiVSP_020475470 – 483EEVKE…LPAGA → MNLSLSQKTVKIHRLFPMLA FS in isoform 5. 1 PublicationAdd BLAST14
Alternative sequenceiVSP_020476484 – 485EP → GL in isoform 7. Curated2
Alternative sequenceiVSP_020477486 – 1035Missing in isoform 7. CuratedAdd BLAST550
Alternative sequenceiVSP_020478589Missing in isoform 5. 1 Publication1
Alternative sequenceiVSP_054488654H → HAVFFFSKYIFLNS in isoform 8. 1 Publication1
Alternative sequenceiVSP_020479704 – 1035Missing in isoform 3. 1 PublicationAdd BLAST332
Alternative sequenceiVSP_020480909 – 960Missing in isoform 2 and isoform 5. 2 PublicationsAdd BLAST52
Alternative sequenceiVSP_0204811020 – 1035VCMPE…GLLGH → GKDEFVLGIC in isoform 6. 1 PublicationAdd BLAST16

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF502942 mRNA. Translation: AAP30832.1.
AL590103 Genomic DNA. Translation: CAI12124.1. Sequence problems.
AL590103, AL359815 Genomic DNA. Translation: CAI12127.1.
AL359815, AL590103 Genomic DNA. Translation: CAI16256.1.
AL359815 Genomic DNA. Translation: CAI16260.1. Sequence problems.
AK000110 mRNA. Translation: BAA90950.1.
AK002190 mRNA. Translation: BAA92128.1. Different initiation.
AK026707 mRNA. Translation: BAB15533.1. Frameshift.
AK026930 mRNA. Translation: BAB15591.1.
BC007326 mRNA. Translation: AAH07326.2.
BC013567 mRNA. Translation: AAH13567.1. Different initiation.
BC067261 mRNA. Translation: AAH67261.1. Sequence problems.
BC103724 mRNA. Translation: AAI03725.1. Sequence problems.
BC104896 mRNA. Translation: AAI04897.1.
BC143354 mRNA. Translation: AAI43355.1.
AL834375 mRNA. Translation: CAD39038.1.
CCDSiCCDS30623.1. [Q86UV5-1]
CCDS44084.1. [Q86UV5-7]
CCDS81277.1. [Q86UV5-2]
RefSeqiNP_001027902.1. NM_001032730.1. [Q86UV5-7]
NP_001317323.1. NM_001330394.1.
NP_115612.4. NM_032236.6. [Q86UV5-1]
UniGeneiHs.467524.

Genome annotation databases

EnsembliENST00000308271; ENSP00000309262; ENSG00000090686. [Q86UV5-1]
ENST00000400301; ENSP00000383157; ENSG00000090686. [Q86UV5-2]
ENST00000421625; ENSP00000406256; ENSG00000090686. [Q86UV5-7]
ENST00000529637; ENSP00000431949; ENSG00000090686. [Q86UV5-8]
GeneIDi84196.
KEGGihsa:84196.
UCSCiuc001bfb.4. human. [Q86UV5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF502942 mRNA. Translation: AAP30832.1.
AL590103 Genomic DNA. Translation: CAI12124.1. Sequence problems.
AL590103, AL359815 Genomic DNA. Translation: CAI12127.1.
AL359815, AL590103 Genomic DNA. Translation: CAI16256.1.
AL359815 Genomic DNA. Translation: CAI16260.1. Sequence problems.
AK000110 mRNA. Translation: BAA90950.1.
AK002190 mRNA. Translation: BAA92128.1. Different initiation.
AK026707 mRNA. Translation: BAB15533.1. Frameshift.
AK026930 mRNA. Translation: BAB15591.1.
BC007326 mRNA. Translation: AAH07326.2.
BC013567 mRNA. Translation: AAH13567.1. Different initiation.
BC067261 mRNA. Translation: AAH67261.1. Sequence problems.
BC103724 mRNA. Translation: AAI03725.1. Sequence problems.
BC104896 mRNA. Translation: AAI04897.1.
BC143354 mRNA. Translation: AAI43355.1.
AL834375 mRNA. Translation: CAD39038.1.
CCDSiCCDS30623.1. [Q86UV5-1]
CCDS44084.1. [Q86UV5-7]
CCDS81277.1. [Q86UV5-2]
RefSeqiNP_001027902.1. NM_001032730.1. [Q86UV5-7]
NP_001317323.1. NM_001330394.1.
NP_115612.4. NM_032236.6. [Q86UV5-1]
UniGeneiHs.467524.

3D structure databases

ProteinModelPortaliQ86UV5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123941. 33 interactors.
IntActiQ86UV5. 3 interactors.
MINTiMINT-7944238.
STRINGi9606.ENSP00000309262.

Protein family/group databases

MEROPSiC19.068.

PTM databases

iPTMnetiQ86UV5.
PhosphoSitePlusiQ86UV5.

Polymorphism and mutation databases

BioMutaiUSP48.
DMDMi74750436.

Proteomic databases

EPDiQ86UV5.
MaxQBiQ86UV5.
PaxDbiQ86UV5.
PeptideAtlasiQ86UV5.
PRIDEiQ86UV5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000308271; ENSP00000309262; ENSG00000090686. [Q86UV5-1]
ENST00000400301; ENSP00000383157; ENSG00000090686. [Q86UV5-2]
ENST00000421625; ENSP00000406256; ENSG00000090686. [Q86UV5-7]
ENST00000529637; ENSP00000431949; ENSG00000090686. [Q86UV5-8]
GeneIDi84196.
KEGGihsa:84196.
UCSCiuc001bfb.4. human. [Q86UV5-1]

Organism-specific databases

CTDi84196.
DisGeNETi84196.
GeneCardsiUSP48.
HGNCiHGNC:18533. USP48.
HPAiHPA030045.
HPA030046.
HPA053976.
neXtProtiNX_Q86UV5.
OpenTargetsiENSG00000090686.
PharmGKBiPA134947522.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1863. Eukaryota.
COG5077. LUCA.
GeneTreeiENSGT00760000119158.
HOGENOMiHOG000231639.
HOVERGENiHBG080368.
InParanoidiQ86UV5.
KOiK11858.
OMAiMGDGIQE.
OrthoDBiEOG091G00SZ.
PhylomeDBiQ86UV5.
TreeFamiTF106280.

Enzyme and pathway databases

BioCyciZFISH:HS01704-MONOMER.
ReactomeiR-HSA-5689880. Ub-specific processing proteases.

Miscellaneous databases

ChiTaRSiUSP48. human.
GeneWikiiUSP48.
GenomeRNAii84196.
PROiQ86UV5.

Gene expression databases

BgeeiENSG00000090686.
CleanExiHS_USP31.
HS_USP48.
ExpressionAtlasiQ86UV5. baseline and differential.
GenevisibleiQ86UV5. HS.

Family and domain databases

CDDicd02668. Peptidase_C19L. 1 hit.
Gene3Di3.30.2230.10. 1 hit.
InterProiIPR006615. Pept_C19_DUSP.
IPR001394. Peptidase_C19_UCH.
IPR029071. Ubiquitin-rel_dom.
IPR000626. Ubiquitin_dom.
IPR033841. USP48.
IPR018200. USP_CS.
IPR028889. USP_dom.
[Graphical view]
PfamiPF00443. UCH. 1 hit.
[Graphical view]
SUPFAMiSSF143791. SSF143791. 1 hit.
SSF54236. SSF54236. 1 hit.
PROSITEiPS51283. DUSP. 3 hits.
PS50053. UBIQUITIN_2. 1 hit.
PS00973. USP_2. 1 hit.
PS50235. USP_3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiUBP48_HUMAN
AccessioniPrimary (citable) accession number: Q86UV5
Secondary accession number(s): B7ZKS7
, Q2M3I4, Q5SZI4, Q5T3T5, Q6NX53, Q8N3F6, Q96F64, Q96IQ3, Q9H5N3, Q9H5T7, Q9NUJ6, Q9NXR0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 19, 2006
Last sequence update: June 1, 2003
Last modified: November 30, 2016
This is version 134 of the entry and version 1 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

Caution

Was termed (PubMed:15354349 and PubMed:17081983) USP31.Curated

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: 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. Peptidase families
    Classification of peptidase families and list of entries
  5. 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.