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Q70CQ3 (UBP30_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 98. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Ubiquitin carboxyl-terminal hydrolase 30

EC=3.4.19.12
Alternative name(s):
Deubiquitinating enzyme 30
Ubiquitin thioesterase 30
Ubiquitin-specific-processing protease 30
Short name=Ub-specific protease 30
Gene names
Name:USP30
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length517 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May participate in the maintenance of mitochondrial morphology. Ref.4

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.1

Subcellular location

Mitochondrion outer membrane Ref.4.

Tissue specificity

Expressed in skeletal muscle, pancreas, liver and kidney. Ref.1

Sequence similarities

Belongs to the peptidase C19 family.

Contains 1 USP domain.

Sequence caution

The sequence AAH04868.1 differs from that shown. Reason: Erroneous initiation.

The sequence BAB55392.1 differs from that shown. Reason: Erroneous initiation.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 517517Ubiquitin carboxyl-terminal hydrolase 30
PRO_0000080662

Regions

Topological domain1 – 3535Mitochondrial intermembrane Potential
Transmembrane36 – 5621Helical; Potential
Topological domain57 – 517461Cytoplasmic Potential
Domain68 – 502435USP

Sites

Active site771Nucleophile
Active site4521Proton acceptor By similarity

Natural variations

Natural variant3571H → R.
Corresponds to variant rs16939904 [ dbSNP | Ensembl ].
VAR_059751

Experimental info

Mutagenesis281R → T: No change in mitochondrial subcellular location; when associated with N-30 and N-33. Ref.4
Mutagenesis301K → N: No effect on subcellular location; when associated with N-28 and N-33. Ref.4
Mutagenesis331K → N: No effect on subcellular location; when associated with N-28 and N-30. Ref.4
Mutagenesis59 – 646RKKRRK → NNASNN: Loss of mitochondrial subcellular location. Located in the endoplasmic reticulum. Ref.4
Mutagenesis771C → S: Loss of deubiquitinase activity. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Q70CQ3 [UniParc].

Last modified July 5, 2004. Version 1.
Checksum: 68FA9B9BEBCFF8DF

FASTA51758,503
        10         20         30         40         50         60 
MLSSRAEAAM TAADRAIQRF LRTGAAVRYK VMKNWGVIGG IAAALAAGIY VIWGPITERK 

        70         80         90        100        110        120 
KRRKGLVPGL VNLGNTCFMN SLLQGLSACP AFIRWLEEFT SQYSRDQKEP PSHQYLSLTL 

       130        140        150        160        170        180 
LHLLKALSCQ EVTDDEVLDA SCLLDVLRMY RWQISSFEEQ DAHELFHVIT SSLEDERDRQ 

       190        200        210        220        230        240 
PRVTHLFDVH SLEQQSEITP KQITCRTRGS PHPTSNHWKS QHPFHGRLTS NMVCKHCEHQ 

       250        260        270        280        290        300 
SPVRFDTFDS LSLSIPAATW GHPLTLDHCL HHFISSESVR DVVCDNCTKI EAKGTLNGEK 

       310        320        330        340        350        360 
VEHQRTTFVK QLKLGKLPQC LCIHLQRLSW SSHGTPLKRH EHVQFNEFLM MDIYKYHLLG 

       370        380        390        400        410        420 
HKPSQHNPKL NKNPGPTLEL QDGPGAPTPV LNQPGAPKTQ IFMNGACSPS LLPTLSAPMP 

       430        440        450        460        470        480 
FPLPVVPDYS SSTYLFRLMA VVVHHGDMHS GHFVTYRRSP PSARNPLSTS NQWLWVSDDT 

       490        500        510 
VRKASLQEVL SSSAYLLFYE RVLSRMQHQS QECKSEE 

« Hide

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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, ENZYME ACTIVITY.
[2]"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].
Tissue: Lung and Skin.
[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. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 24-517.
Tissue: Placenta.
[4]"Regulation of mitochondrial morphology by USP30, a deubiquitinating enzyme present in the mitochondrial outer membrane."
Nakamura N., Hirose S.
Mol. Biol. Cell 19:1903-1911(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, MUTAGENESIS OF ARG-28; LYS-30; LYS-33; 59-ARG--LYS-64 AND CYS-77.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ586136 mRNA. Translation: CAE51936.1.
BC004868 mRNA. Translation: AAH04868.1. Different initiation.
BC022094 mRNA. Translation: AAH22094.2.
AK027820 mRNA. Translation: BAB55392.1. Different initiation.
CCDSCCDS9123.2.
RefSeqNP_116052.2. NM_032663.3.
XP_006719715.1. XM_006719652.1.
XP_006719716.1. XM_006719653.1.
UniGeneHs.486434.
Hs.660996.

3D structure databases

ProteinModelPortalQ70CQ3.
SMRQ70CQ3. Positions 61-354, 426-501.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124238. 7 interactions.
IntActQ70CQ3. 5 interactions.
STRING9606.ENSP00000257548.

Protein family/group databases

MEROPSC19.060.

PTM databases

PhosphoSiteQ70CQ3.

Polymorphism databases

DMDM52000872.

Proteomic databases

MaxQBQ70CQ3.
PaxDbQ70CQ3.
PRIDEQ70CQ3.

Protocols and materials databases

DNASU84749.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000257548; ENSP00000257548; ENSG00000135093.
GeneID84749.
KEGGhsa:84749.
UCSCuc001tnu.4. human.

Organism-specific databases

CTD84749.
GeneCardsGC12P109460.
HGNCHGNC:20065. USP30.
HPAHPA016952.
MIM612492. gene.
neXtProtNX_Q70CQ3.
PharmGKBPA134971149.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG259866.
HOGENOMHOG000065744.
HOVERGENHBG079301.
InParanoidQ70CQ3.
KOK11851.
OMANQPGGPK.
PhylomeDBQ70CQ3.
TreeFamTF105781.

Gene expression databases

ArrayExpressQ70CQ3.
BgeeQ70CQ3.
CleanExHS_USP30.
GenevestigatorQ70CQ3.

Family and domain databases

InterProIPR018200. Pept_C19ubi-hydrolase_C_CS.
IPR001394. Peptidase_C19_UCH.
IPR028889. UCH/PAN2.
[Graphical view]
PfamPF00443. UCH. 1 hit.
[Graphical view]
PROSITEPS00972. USP_1. 1 hit.
PS00973. USP_2. 1 hit.
PS50235. USP_3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSUSP30. human.
GenomeRNAi84749.
NextBio74888.
PROQ70CQ3.
SOURCESearch...

Entry information

Entry nameUBP30_HUMAN
AccessionPrimary (citable) accession number: Q70CQ3
Secondary accession number(s): Q8WTU7, Q96JX4, Q9BSS3
Entry history
Integrated into UniProtKB/Swiss-Prot: September 13, 2004
Last sequence update: July 5, 2004
Last modified: July 9, 2014
This is version 98 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Peptidase families

Classification of peptidase families and list of entries

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM