Reviewed,
UniProtKB/Swiss-Prot Q70EL1 (UBP54_HUMAN)
Last modified
December 16, 2008.
Version 30.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Inactive ubiquitin carboxyl-terminal hydrolase 54 Alternative name(s): Inactive ubiquitin-specific peptidase 54 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 1684 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at transcript level. |
General annotation (Comments)
| Function | Has no peptidase activity. |
| Tissue specificity | Weakly expressed in a few tissues. Ref.1 |
| Sequence similarities | Belongs to the peptidase C19 family. |
| Caution | Although the active site residues are conserved, it lacks the conserved His residue which is normally found 9 residues before the catalytic His. |
| Sequence caution | The sequence BX649087 differs from that shown. Reason: Frameshift at position 508. The sequence CAO03507.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAO03508.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAO03509.1 differs from that shown. Reason: Erroneous gene model prediction. |
Ontologies
Keywords | |
|---|---|
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Coiled coil |
| PTM | Phosphoprotein |
Gene Ontology (GO) | |
| Biological process | ubiquitin-dependent protein catabolic process Inferred from electronic annotation. Source: InterPro |
| Molecular function | ubiquitin thiolesterase activity Inferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 7 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q70EL1-1) 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: Q70EL1-4) The sequence of this isoform differs from the canonical sequence as follows: 383-403: REPSISSDTRTDSSTESYPYK → EQPGSLPLLSPHPMRSNSWDS 404-1684: Missing. | ||||||
| Notes: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q70EL1-6) The sequence of this isoform differs from the canonical sequence as follows: 893-893: S → R 894-1684: Missing. | ||||||
| Notes: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q70EL1-7) The sequence of this isoform differs from the canonical sequence as follows: 126-275: Missing. | ||||||
| Notes: No experimental confirmation available. | ||||||
| Isoform 5 (identifier: Q70EL1-8) The sequence of this isoform differs from the canonical sequence as follows: 1-912: Missing. | ||||||
| Isoform 6 (identifier: Q70EL1-9) The sequence of this isoform differs from the canonical sequence as follows: 1-912: Missing. 1391-1437: Missing. | ||||||
| Isoform 7 (identifier: Q70EL1-10) The sequence of this isoform differs from the canonical sequence as follows: 1-912: Missing. 1386-1390: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1684 | 1684 | Inactive ubiquitin carboxyl-terminal hydrolase 54 | PRO_0000249530 | |||||
Regions | |||||||||
| Coiled coil | 736 – 770 | 35 | Potential | ||||||
| Compositional bias | 559 – 570 | 12 | Poly-Ser | ||||||
| Compositional bias | 866 – 869 | 4 | Poly-Gln | ||||||
Amino acid modifications | |||||||||
| Modified residue | 227 | 1 | Phosphoserine By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 912 | 912 | Missing in isoform 5, isoform 6 and isoform 7. | VSP_035674 | |||||
| Alternative sequence | 126 – 275 | 150 | Missing in isoform 4. | VSP_029922 | |||||
| Alternative sequence | 383 – 403 | 21 | REPSI…SYPYK → EQPGSLPLLSPHPMRSNSWD S in isoform 2. | VSP_026525 | |||||
| Alternative sequence | 404 – 1684 | 1281 | Missing in isoform 2. | VSP_026526 | |||||
| Alternative sequence | 893 | 1 | S → R in isoform 3. | VSP_035675 | |||||
| Alternative sequence | 894 – 1684 | 791 | Missing in isoform 3. | VSP_035676 | |||||
| Alternative sequence | 1386 – 1390 | 5 | Missing in isoform 7. | VSP_035677 | |||||
| Alternative sequence | 1391 – 1437 | 47 | Missing in isoform 6. | VSP_035678 | |||||
| Natural variant | 505 | 1 | L → V in a breast cancer sample; somatic mutation. Ref.6 | VAR_036360 | |||||
| Natural variant | 976 | 1 | K → E: dbSNP rs1618542. | VAR_047258 | |||||
| Natural variant | 1231 | 1 | D → N: dbSNP rs4619071. | VAR_047259 | |||||
| Natural variant | 1367 | 1 | G → D: dbSNP rs7083344. | VAR_047260 | |||||
Experimental info | |||||||||
| Sequence conflict | 110 – 111 | 2 | EQ → KE in BX649087. Ref.2 | ||||||
| Sequence conflict | 191 | 1 | C → S in CAE47747. Ref.1 | ||||||
| Sequence conflict | 226 | 1 | P → L in BX649087. Ref.2 | ||||||
| Sequence conflict | 733 | 1 | E → G in BX649087. Ref.2 | ||||||
| Sequence conflict | 1345 | 1 | H → P in BAC04393. Ref.3 | ||||||
| Sequence conflict | 1425 | 1 | S → P in BAC86566. Ref.3 | ||||||
| Sequence conflict | 1438 | 1 | D → H in AAI30634. Ref.5 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "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: 14715245] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), LACK OF ENZYME ACTIVITY, TISSUE SPECIFICITY. |
| [2] | The German cDNA consortium Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Fetal liver. |
| [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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 5; 6 AND 7). Tissue: Amygdala, Hippocampus, Lung and Uterus. |
| [4] | "The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. Rogers J.Nature 429:375-381(2004) [PubMed: 15164054] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "The status, quality, and expansion of the NIH |

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