Q5W0Q7 (USPL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
SUMO-specific isopeptidase USPL1
EC=3.4.22.-

Alternative name(s):
Ubiquitin-specific peptidase-like protein 1

Gene names

Name:	USPL1
Synonyms:	C13orf22, D13S106

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1092 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	SUMO-specific isopeptidase involved in protein desumoylation. Specifically binds SUMO proteins with a higher affinity for SUMO2 and SUMO3 which it cleaves more efficiently. Also able to process full-length SUMO proteins to their mature forms. May have non-catalytic functions in Cajal bodies organization and cell proliferation. Ref.5
Subcellular location	Nucleus › Cajal body Ref.5.
Sequence similarities	Belongs to the peptidase C19 family.

Ontologies

Keywords
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Molecular function	Hydrolase Protease Thiol protease
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	Cajal body organization Inferred from mutant phenotype Ref.5. Source: UniProtKB cell proliferation Inferred from mutant phenotype Ref.5. Source: UniProtKB protein desumoylation Inferred from direct assay Ref.5. Source: UniProtKB ubiquitin-dependent protein catabolic process Inferred from electronic annotation. Source: InterPro
Cellular_component	Cajal body Inferred from direct assay Ref.5. Source: UniProtKB
Molecular_function	SUMO binding Inferred from direct assay Ref.5. Source: UniProtKB SUMO-specific isopeptidase activity Inferred from direct assay Ref.5. Source: UniProtKB ubiquitin thiolesterase activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q5W0Q7-1)

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: Q5W0Q7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-329: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1092	1092	SUMO-specific isopeptidase USPL1		PRO_0000279526
Regions
	Region	236 – 495	260	SUMO-binding
Sites
	Active site	236	1	Nucleophile
	Active site	456	1	Proton acceptor By similarity
Natural variations
	Alternative sequence	1 – 329	329	Missing in isoform 2.		VSP_023479
	Natural variant	173	1	E → G. Ref.4 Corresponds to variant rs17853512 [ dbSNP | Ensembl ].		VAR_030916
	Natural variant	384	1	P → S. Corresponds to variant rs3742303 [ dbSNP | Ensembl ].		VAR_030917
	Natural variant	522	1	A → P. Corresponds to variant rs17609459 [ dbSNP | Ensembl ].		VAR_030918
	Natural variant	531	1	L → S. Ref.4 Corresponds to variant rs7984952 [ dbSNP | Ensembl ].		VAR_030919
	Natural variant	583	1	I → V. Corresponds to variant rs41412648 [ dbSNP | Ensembl ].		VAR_051542
	Natural variant	739	1	S → C. Corresponds to variant rs9578190 [ dbSNP | Ensembl ].		VAR_030920
	Natural variant	786	1	L → I. Corresponds to variant rs35371042 [ dbSNP | Ensembl ].		VAR_051543
	Natural variant	950	1	S → N. Ref.4 Corresponds to variant rs3742302 [ dbSNP | Ensembl ].		VAR_030921
	Natural variant	1043	1	T → S. Ref.4 Corresponds to variant rs17857086 [ dbSNP | Ensembl ].		VAR_030922
Experimental info
	Mutagenesis	229	1	W → L: Altered SUMO-binding and SUMO-specific isopeptidase activity. Ref.5
	Mutagenesis	236	1	C → S: Abolishes the SUMO-specific isopeptidase activity. Ref.5
	Mutagenesis	237	1	W → F: Altered SUMO-binding and SUMO-specific isopeptidase activity. Ref.5
	Mutagenesis	340 – 341	2	LL → AA: Altered SUMO-binding and SUMO-specific isopeptidase activity.
	Mutagenesis	421	1	H → A: Altered SUMO-binding and SUMO-specific isopeptidase activity. Ref.5
	Mutagenesis	494 – 495	2	IV → AA: Loss of SUMO-binding and catalytic activity.

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 7, 2004. Version 1. Checksum: FBE4626FC311E706	FASTA	1,092	120,440
	10 20 30 40 50 60 MMDSPKIGNG LPVIGPGTDI GISSLHMVGY LGKNFDSAKV PSDEYCPACR EKGKLKALKT 70 80 90 100 110 120 YRISFQESIF LCEDLQCIYP LGSKSLNNLI SPDLEECHTP HKPQKRKSLE SSYKDSLLLA 130 140 150 160 170 180 NSKKTRNYIA IDGGKVLNSK HNGEVYDETS SNLPDSSGQQ NPIRTADSLE RNEILEADTV 190 200 210 220 230 240 DMATTKDPAT VDVSGTGRPS PQNEGCTSKL EMPLESKCTS FPQALCVQWK NAYALCWLDC 250 260 270 280 290 300 ILSALVHSEE LKNTVTGLCS KEESIFWRLL TKYNQANTLL YTSQLSGVKD GDCKKLTSEI 310 320 330 340 350 360 FAEIETCLNE VRDEIFISLQ PQLRCTLGDM ESPVFAFPLL LKLETHIEKL FLYSFSWDFE 370 380 390 400 410 420 CSQCGHQYQN RHMKSLVTFT NVIPEWHPLN AAHFGPCNNC NSKSQIRKMV LEKVSPIFML 430 440 450 460 470 480 HFVEGLPQND LQHYAFHFEG CLYQITSVIQ YRANNHFITW ILDADGSWLE CDDLKGPCSE 490 500 510 520 530 540 RHKKFEVPAS EIHIVIWERK ISQVTDKEAA CLPLKKTNDQ HALSNEKPVS LTSCSVGDAA 550 560 570 580 590 600 SAETASVTHP KDISVAPRTL SQDTAVTHGD HLLSGPKGLV DNILPLTLEE TIQKTASVSQ 610 620 630 640 650 660 LNSEAFLLEN KPVAENTGIL KTNTLLSQES LMASSVSAPC NEKLIQDQFV DISFPSQVVN 670 680 690 700 710 720 TNMQSVQLNT EDTVNTKSVN NTDATGLIQG VKSVEIEKDA QLKQFLTPKT EQLKPERVTS 730 740 750 760 770 780 QVSNLKKKET TADSQTTTSK SLQNQSLKEN QKKPFVGSWV KGLISRGASF MPLCVSAHNR 790 800 810 820 830 840 NTITDLQPSV KGVNNFGGFK TKGINQKASH VSKKARKSAS KPPPISKPPA GPPSSNGTAA 850 860 870 880 890 900 HPHAHAASEV LEKSGSTSCG AQLNHSSYGN GISSANHEDL VEGQIHKLRL KLRKKLKAEK 910 920 930 940 950 960 KKLAALMSSP QSRTVRSENL EQVPQDGSPN DCESIEDLLN ELPYPIDIAS ESACTTVPGV 970 980 990 1000 1010 1020 SLYSSQTHEE ILAELLSPTP VSTELSENGE GDFRYLGMGD SHIPPPVPSE FNDVSQNTHL 1030 1040 1050 1060 1070 1080 RQDHNYCSPT KKNPCEVQPD SLTNNACVRT LNLESPMKTD IFDEFFSSSA LNALANDTLD 1090 LPHFDEYLFE NY
	Isoform 2 [UniParc]. Checksum: 3E1D7BDC10690EDA	FASTA	763	84,094
	10 20 30 40 50 60 MESPVFAFPL LLKLETHIEK LFLYSFSWDF ECSQCGHQYQ NRHMKSLVTF TNVIPEWHPL 70 80 90 100 110 120 NAAHFGPCNN CNSKSQIRKM VLEKVSPIFM LHFVEGLPQN DLQHYAFHFE GCLYQITSVI 130 140 150 160 170 180 QYRANNHFIT WILDADGSWL ECDDLKGPCS ERHKKFEVPA SEIHIVIWER KISQVTDKEA 190 200 210 220 230 240 ACLPLKKTND QHALSNEKPV SLTSCSVGDA ASAETASVTH PKDISVAPRT LSQDTAVTHG 250 260 270 280 290 300 DHLLSGPKGL VDNILPLTLE ETIQKTASVS QLNSEAFLLE NKPVAENTGI LKTNTLLSQE 310 320 330 340 350 360 SLMASSVSAP CNEKLIQDQF VDISFPSQVV NTNMQSVQLN TEDTVNTKSV NNTDATGLIQ 370 380 390 400 410 420 GVKSVEIEKD AQLKQFLTPK TEQLKPERVT SQVSNLKKKE TTADSQTTTS KSLQNQSLKE 430 440 450 460 470 480 NQKKPFVGSW VKGLISRGAS FMPLCVSAHN RNTITDLQPS VKGVNNFGGF KTKGINQKAS 490 500 510 520 530 540 HVSKKARKSA SKPPPISKPP AGPPSSNGTA AHPHAHAASE VLEKSGSTSC GAQLNHSSYG 550 560 570 580 590 600 NGISSANHED LVEGQIHKLR LKLRKKLKAE KKKLAALMSS PQSRTVRSEN LEQVPQDGSP 610 620 630 640 650 660 NDCESIEDLL NELPYPIDIA SESACTTVPG VSLYSSQTHE EILAELLSPT PVSTELSENG 670 680 690 700 710 720 EGDFRYLGMG DSHIPPPVPS EFNDVSQNTH LRQDHNYCSP TKKNPCEVQP DSLTNNACVR 730 740 750 760 TLNLESPMKT DIFDEFFSSS ALNALANDTL DLPHFDEYLF ENY

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A unique intronless gene or gene segment on chromosome 13 specifying a highly charged amino acid sequence." Wilton A.N., Zehavi-Feferman T., Fleming J., Baker E., Chen L.Z., Cooper D.W. Cytogenet. Cell Genet. 58:1985-1985(1991) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Melanoma.
[2]	"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] (ISOFORM 2). Tissue: Semen.
[3]	"The DNA sequence and analysis of human chromosome 13." Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T. Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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 1), VARIANTS GLY-173; SER-531; ASN-950 AND SER-1043. Tissue: Testis.
[5]	"Ubiquitin-specific protease-like 1 (USPL1) is a SUMO isopeptidase with essential, non-catalytic functions." Schulz S., Chachami G., Kozaczkiewicz L., Winter U., Stankovic-Valentin N., Haas P., Hofmann K., Urlaub H., Ovaa H., Wittbrodt J., Meulmeester E., Melchior F. EMBO Rep. 13:930-938(2012) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION IN PROTEIN DESUMOYLATION, NON-CATALYTIC FUNCTION, CATALYTIC ACTIVITY, SUBCELLULAR LOCATION, MUTAGENESIS OF TRP-229; CYS-236; TRP-237; HIS-421; 340-LEU-LEU-341 AND 494-ILE-VAL-495.

Cross-references

Sequence databases
EMBL GenBank DDBJ	X59131 mRNA. Translation: CAA41848.1. CR627370 mRNA. Translation: CAH10469.1. AL138681 Genomic DNA. Translation: CAH70264.1. BC036027 mRNA. Translation: AAH36027.1. BC038103 mRNA. Translation: AAH38103.1.
IPI	IPI00024818. IPI00830079.
PIR	I37273.
RefSeq	NP_005791.3. NM_005800.4.
UniGene	Hs.533831.
3D structure databases
ProteinModelPortal	Q5W0Q7.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-47278N.
IntAct	Q5W0Q7. 13 interactions.
MINT	MINT-8403754.
STRING	9606.ENSP00000255304.
Protein family/group databases
MEROPS	C98.001.
PTM databases
PhosphoSite	Q5W0Q7.
Polymorphism databases
DMDM	74747969.
Proteomic databases
PaxDb	Q5W0Q7.
PRIDE	Q5W0Q7.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000255304; ENSP00000255304; ENSG00000132952.
GeneID	10208.
KEGG	hsa:10208.
UCSC	uc001utc.2. human.
Organism-specific databases
CTD	10208.
GeneCards	GC13P031191.
H-InvDB	HIX0023052.
HGNC	HGNC:20294. USPL1.
HPA	HPA039342. HPA040172.
neXtProt	NX_Q5W0Q7.
PharmGKB	PA134872379.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG39418.
HOGENOM	HOG000154801.
HOVERGEN	HBG094141.
InParanoid	Q5W0Q7.
OMA	GPGTDIG.
OrthoDB	EOG4WM4SW.
PhylomeDB	Q5W0Q7.
Gene expression databases
Bgee	Q5W0Q7.
CleanEx	HS_USPL1.
Genevestigator	Q5W0Q7.
Family and domain databases
InterPro	IPR001394. Peptidase_C19. [Graphical view]
PROSITE	PS00972. UCH_2_1. False negative. PS00973. UCH_2_2. False negative. PS50235. UCH_2_3. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	10208.
NextBio	38648.

Entry information

Entry name

USPL1_HUMAN

Accession

Primary (citable) accession number: Q5W0Q7
Secondary accession number(s): Q14109 , Q6AI45, Q8IY30, Q8IYE8

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 6, 2007
Last sequence update:	December 7, 2004
Last modified:	May 29, 2013
This is version 71 of the entry and version 1 of the sequence. [Complete 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.