Q86UV5 (UBP48_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 29, 2013.
Version 97.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | 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 names |
| ||||
| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 1035 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | 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. Ref.8 |
| Catalytic activity | 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). Ref.8 |
| Subunit structure | Interacts with TRAF2 and RELA. Ref.8 |
| Subcellular location | |
| Tissue specificity | |
| Sequence similarities | Belongs to the peptidase C19 family. Contains 3 DUSP domains. Contains 1 ubiquitin-like domain. |
| Caution | |
| Sequence caution | The sequence AAH13567.1 differs from that shown. Reason: Erroneous initiation. The sequence AAH67261.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence. The sequence AAI03725.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence. The sequence BAA92128.1 differs from that shown. Reason: Erroneous initiation. The sequence CAI12124.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI16260.1 differs from that shown. Reason: Erroneous gene model prediction. Isoform 5: The sequence BAB15533.1 differs from that shown. Reason: Frameshift at position 109. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Ubl conjugation pathway |
| Cellular component | Cytoplasm Nucleus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Repeat |
| Molecular function | Hydrolase Protease Thiol protease |
| PTM | Acetylation Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | ubiquitin-dependent protein catabolic process Inferred from electronic annotation. Source: InterPro |
| Cellular_component | mitochondrion Inferred from direct assay. Source: HPA nucleusInferred from direct assay. Source: HPA |
| Molecular_function | cysteine-type peptidase activity Inferred from electronic annotation. Source: UniProtKB-KW ubiquitin thiolesterase activityInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 7 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q86UV5-1) 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. | ||||||
| Isoform 2 (identifier: Q86UV5-2) The sequence of this isoform differs from the canonical sequence as follows: 909-960: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q86UV5-3) The sequence of this isoform differs from the canonical sequence as follows: 704-1035: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q86UV5-4) The sequence of this isoform differs from the canonical sequence as follows: 369-392: FNDEDIEKMEGKKLQLGIEEDLAE → LILNTNYHLPPSPKPIKIKNYNKP 393-1035: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 5 (identifier: Q86UV5-5) 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. | ||||||
| Isoform 6 (identifier: Q86UV5-6) The sequence of this isoform differs from the canonical sequence as follows: 1-875: Missing. 1020-1035: VCMPEEGFKGTGLLGH → GKDEFVLGIC | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 7 (identifier: Q86UV5-7) Also known as: USP31S1; The sequence of this isoform differs from the canonical sequence as follows: 484-485: EP → GL 486-1035: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1035 | 1035 | Ubiquitin carboxyl-terminal hydrolase 48 | PRO_0000249523 | |||||
Regions | |||||||||
| Domain | 460 – 554 | 95 | DUSP 1 | ||||||
| Domain | 569 – 691 | 123 | DUSP 2 | ||||||
| Domain | 711 – 824 | 114 | DUSP 3 | ||||||
| Domain | 929 – 1009 | 81 | Ubiquitin-like | ||||||
Sites | |||||||||
| Active site | 98 | 1 | Nucleophile By similarity | ||||||
| Active site | 353 | 1 | Proton acceptor By similarity | ||||||
Amino acid modifications | |||||||||
| Modified residue | 886 | 1 | Phosphoserine Ref.10 Ref.12 | ||||||
| Modified residue | 887 | 1 | Phosphoserine Ref.10 | ||||||
| Modified residue | 888 | 1 | Phosphoserine Ref.10 Ref.12 | ||||||
| Modified residue | 956 | 1 | N6-acetyllysine Ref.9 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 875 | 875 | Missing in isoform 6. | VSP_020471 | |||||
| Alternative sequence | 1 – 469 | 469 | Missing in isoform 5. | VSP_020472 | |||||
| Alternative sequence | 369 – 392 | 24 | FNDED…EDLAE → LILNTNYHLPPSPKPIKIKN YNKP in isoform 4. | VSP_020473 | |||||
| Alternative sequence | 393 – 1035 | 643 | Missing in isoform 4. | VSP_020474 | |||||
| Alternative sequence | 470 – 483 | 14 | EEVKE…LPAGA → MNLSLSQKTVKIHRLFPMLA FS in isoform 5. | VSP_020475 | |||||
| Alternative sequence | 484 – 485 | 2 | EP → GL in isoform 7. | VSP_020476 | |||||
| Alternative sequence | 486 – 1035 | 550 | Missing in isoform 7. | VSP_020477 | |||||
| Alternative sequence | 589 | 1 | Missing in isoform 5. | VSP_020478 | |||||
| Alternative sequence | 704 – 1035 | 332 | Missing in isoform 3. | VSP_020479 | |||||
| Alternative sequence | 909 – 960 | 52 | Missing in isoform 2 and isoform 5. | VSP_020480 | |||||
| Alternative sequence | 1020 – 1035 | 16 | VCMPE…GLLGH → GKDEFVLGIC in isoform 6. | VSP_020481 | |||||
| Natural variant | 125 | 1 | S → C. Corresponds to variant rs4253886 [ dbSNP | Ensembl ]. | VAR_027427 | |||||
| Natural variant | 135 | 1 | E → K. Corresponds to variant rs12097805 [ dbSNP | Ensembl ]. | VAR_027428 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Identification of the human ubiquitin specific protease 31 (USP31) gene: structure, sequence and expression analysis." Lockhart P.J., Hulihan M., Lincoln S., Hussey J., Skipper L., Bisceglio G., Wilkes K., Farrer M.J. DNA Seq. 15:9-14(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY. |
| [2] | "The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. Bentley D.R.Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 4; 5 AND 6), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 712-1035 (ISOFORM 1). Tissue: Colon, Hepatoma and Placenta. |
| [4] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 399-1035 (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-636 (ISOFORMS 1/2). Tissue: Colon, Eye, Pancreas, Skin and Uterus. |
| [5] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 691-1035 (ISOFORM 1). Tissue: Melanoma. |
| [6] | "Cloning and enzymatic analysis of 22 novel human ubiquitin-specific proteases." Quesada V., Diaz-Perales A., Gutierrez-Fernandez A., Garabaya C., Cal S., Lopez-Otin C. Biochem. Biophys. Res. Commun. 314:54-62(2004) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY. |
| [7] | "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma. |
| [8] | "Human ubiquitin specific protease 31 is a deubiquitinating enzyme implicated in activation of nuclear factor-kappaB." Tzimas C., Michailidou G., Arsenakis M., Kieff E., Mosialos G., Hatzivassiliou E.G. Cell. Signal. 18:83-92(2006) [PubMed] [Europe PMC] [Abstract] Cited for: ALTERNATIVE SPLICING (ISOFORM 7), ENZYME ACTIVITY, FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INTERACTION WITH RELA AND TRAF2. |
| [9] | "Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-956, MASS SPECTROMETRY. |
| [10] | "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-886; SER-887 AND SER-888, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [11] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [12] | "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-886 AND SER-888, MASS SPECTROMETRY. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | 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. AL834375 mRNA. Translation: CAD39038.1. |
| IPI | IPI00328815. IPI00414817. IPI00748485. IPI00786950. IPI00787034. IPI00787461. IPI00788045. |
| RefSeq | NP_001027902.1. NM_001032730.1. NP_115612.4. NM_032236.5. |
| UniGene | Hs.467524. |
3D structure databases | |
| ProteinModelPortal | Q86UV5. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q86UV5. 2 interactions. |
| MINT | MINT-7944238. |
Protein family/group databases | |
| MEROPS | C19.068. |
PTM databases | |
| PhosphoSite | Q86UV5. |
Polymorphism databases | |
| DMDM | 74750436. |
Proteomic databases | |
| PaxDb | Q86UV5. |
| PRIDE | Q86UV5. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000308271; ENSP00000309262; ENSG00000090686. ENST00000374732; ENSP00000363864; ENSG00000090686. ENST00000400301; ENSP00000383157; ENSG00000090686. ENST00000421625; ENSP00000406256; ENSG00000090686. |
| GeneID | 84196. |
| KEGG | hsa:84196. |
| UCSC | uc001bfa.3. human. uc001bfb.3. human. uc001bfc.3. human. uc001bfd.1. human. uc001bff.3. human. |
Organism-specific databases | |
| CTD | 84196. |
| GeneCards | GC01M022004. |
| HGNC | HGNC:18533. USP48. |
| HPA | HPA030045. HPA030046. HPA053976. |
| neXtProt | NX_Q86UV5. |
| PharmGKB | PA134947522. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG5077. |
| HOVERGEN | HBG080368. |
| InParanoid | Q86UV5. |
| KO | K11858. |
| OrthoDB | EOG4GF3DC. |
| PhylomeDB | Q86UV5. |
Gene expression databases | |
| ArrayExpress | Q86UV5. |
| Bgee | Q86UV5. |
| CleanEx | HS_USP31. HS_USP48. |
| Genevestigator | Q86UV5. |
| GermOnline | ENSG00000090686. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR006615. Pept_C19_DUSP. IPR018200. Pept_C19ubi-hydrolase_C_CS. IPR001394. Peptidase_C19. IPR019955. Ubiquitin_supergroup. [Graphical view] |
| Pfam | PF00443. UCH. 1 hit. [Graphical view] |
| PROSITE | PS51283. DUSP. 3 hits. PS00299. UBIQUITIN_1. False negative. PS50053. UBIQUITIN_2. 1 hit. PS00972. UCH_2_1. False negative. PS00973. UCH_2_2. 1 hit. PS50235. UCH_2_3. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | USP48. human. |
| GenomeRNAi | 84196. |
| NextBio | 73598. |
Entry information
| Entry name | UBP48_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q86UV5 Secondary accession number(s): Q2M3I4 Q9NXR0 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Peptidase families Classification of peptidase families and list of entries |
| Human chromosome 1 Human chromosome 1: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| SIMILARITY comments Index of protein domains and families |

Clusters with
