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UniProtKB/Swiss-Prot entry O00507


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name USP9Y_HUMAN
Primary accession number O00507
Secondary accession number O14601
Integrated into Swiss-Prot on November 1, 1997
Sequence was last modified on May 5, 2009 (Sequence version 2)
Annotations were last modified on    June 16, 2009 (Entry version 88)
Name and origin of the protein
Protein name Probable ubiquitin carboxyl-terminal hydrolase FAF-Y
Synonyms EC 3.1.2.15
Ubiquitin thioesterase FAF-Y
Ubiquitin-specific-processing protease FAF-Y
Deubiquitinating enzyme FAF-Y
Fat facets protein-related, Y-linked
Ubiquitin-specific protease 9, Y chromosome
Gene name
Name: USP9Y
Synonyms: DFFRY, USP10
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Testis;
DOI=10.1093/hmg/5.11.1695; PubMed=8922996 [NCBI, ExPASy, EBI, Israel, Japan]
Jones M.H., Furlong R.A., Burkin H., Chalmers I.J., Brown G.M., Khwaja O., Affara N.A.;
"The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2.";
Hum. Mol. Genet. 5:1695-1701(1996).
[2]
NUCLEOTIDE SEQUENCE [MRNA].
DOI=10.1126/science.278.5338.675; PubMed=9381176 [NCBI, ExPASy, EBI, Israel, Japan]
Lahn B.T., Page D.C.;
"Functional coherence of the human Y chromosome.";
Science 278:675-680(1997).
[3]
NUCLEOTIDE SEQUENCE [MRNA], GENE MAPPING, AND VARIANT THR-1060.
TISSUE=Fetal brain, Retina, and Testis;
DOI=10.1093/hmg/7.1.97; PubMed=9384609 [NCBI, ExPASy, EBI, Israel, Japan]
Brown G.M., Furlong R.A., Sargent C.A., Erickson R.P., Longepied G., Mitchell M., Jones M.H., Hargreave T.B., Cooke H.J., Affara N.A.;
"Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxrb interval of the mouse Y chromosome of the Dffry gene.";
Hum. Mol. Genet. 7:97-107(1998).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature01722; PubMed=12815422 [NCBI, ExPASy, EBI, Israel, Japan]
Skaletsky H., Kuroda-Kawaguchi T., Minx P.J., Cordum H.S., Hillier L.W., Brown L.G., Repping S., Pyntikova T., Ali J., Bieri T., Chinwalla A., Delehaunty A., Delehaunty K., Du H., Fewell G., Fulton L., Fulton R., Graves T.A., Hou S.-F., Latrielle P., Leonard S., Mardis E., Maupin R., McPherson J., Miner T., Nash W., Nguyen C., Ozersky P., Pepin K., Rock S., Rohlfing T., Scott K., Schultz B., Strong C., Tin-Wollam A., Yang S.-P., Waterston R.H., Wilson R.K., Rozen S., Page D.C.;
"The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes.";
Nature 423:825-837(2003).
[5]
SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
DOI=10.1186/gb-2004-5-2-r8; PubMed=14759258 [NCBI, ExPASy, EBI, Israel, Japan]
Hillman R.T., Green R.E., Brenner S.E.;
"An unappreciated role for RNA surveillance.";
Genome Biol. 5:RESEARCH008.1-RESEARCH008.16(2004).
[6]
IDENTIFICATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY.
Colinge J., Superti-Furga G., Bennett K.L.;
Submitted (OCT-2008) to UniProtKB.
Comments
  • FUNCTION: May function as a ubiquitin-protein or polyubiquitin hydrolase involved both in the processing of ubiquitin precursors and of ubiquitinated proteins. May therefore play an important role regulatory role at the level of protein turnover by preventing degradation of proteins through the removal of conjugated ubiquitin. Essential component of TGF-beta/BMP signaling cascade. Deubiquitinates monoubiquitinated SMAD4, opposing the activity of E3 ubiquitin-protein ligase TRIM33. Monoubiquitination of SMAD4 hampers its ability to form a stable complex with activated SMAD2/3 resulting in inhibition of TGF-beta/BMP signaling cascade. Deubiqitination of SMAD4 by USP9X re-empowers its competence to mediate TGF-beta signaling (By similarity).
  • CATALYTIC ACTIVITY: Ubiquitin C-terminal thioester + H2O = ubiquitin + a thiol.
  • SUBUNIT: Interacts with SMAD4 (By similarity).
  • SUBCELLULAR LOCATION: Cytoplasm (By similarity).
  • ALTERNATIVE PRODUCTS: 2 named isoforms [FASTA] produced by alternative splicing. Additional isoforms seem to exist.
    NameLong
    Isoform IDO00507-1
    This is the isoform sequence displayed in this entry.
    NameShort
    Isoform IDO00507-2
    Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    Features which should be applied to build the isoform sequence: VSP_005272.
  • TISSUE SPECIFICITY: Widely expressed in embryonic and adult tissues.
  • DISEASE: USP9Y is deleted in non-obstructive hypospermatogenesis [MIM:400042].
  • DISEASE: Defects in USP9Y are a cause of non-obstructive azoospermia and infertility [MIM:415000].
  • SIMILARITY: Belongs to the peptidase C19 family [view classification].
  • WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=USP9Y";.
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
AF000986; AAC51833.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
Y13618; CAA73940.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
Y13619; CAA73941.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AC002531; -; NOT_ANNOTATED_CDS; Genomic_DNA.[EMBL / GenBank / DDBJ]
IPI IPI00744575; -.
IPI00874074; -.
RefSeq NP_004645.2; -.
XP_001713748.1; -.
UniGene Hs.655309
3D structure databases
HSSP Q93009; 1NB8. [HSSP ENTRY / PDB]
ModBase O00507.
Protein family/group databases
MEROPS C19.028; -.
PTM databases
PhosphoSite O00507; -.
Enzyme and pathway databases
BRENDA 3.1.2.15; 247.
Organism-specific databases
GeneCards GC0YP013251; -.
GC0YP013322; -.
HGNC HGNC:12633; USP9Y.
GenAtlas USP9Y.
MIM 400005; gene. [NCBI / EBI]
400042; phenotype. [NCBI / EBI]
415000; phenotype. [NCBI / EBI]
Orphanet 1646; Chromosome Y deletion.
PharmGKB PA37258; -.
Gene expression databases
ArrayExpress O00507; -.
Bgee O00507; -.
CleanEx HS_USP10; -.
HS_USP9Y; -.
GermOnline ENSG00000114374; Homo sapiens.
Ontologies
GO
GO:0005737; Cellular component: cytoplasm (inferred from sequence or structural similarity from UniProtKB).
GO:0070410; Molecular function: co-SMAD binding (inferred from sequence or structural similarity from UniProtKB).
GO:0004221; Molecular function: ubiquitin thiolesterase activity (inferred from electronic annotation from EC).
GO:0004843; Molecular function: ubiquitin-specific protease activity (traceable author statement from ProtInc).
GO:0030509; Biological process: BMP signaling pathway (inferred from sequence or structural similarity from UniProtKB).
GO:0016579; Biological process: protein deubiquitination (inferred from sequence or structural similarity from UniProtKB).
GO:0007283; Biological process: spermatogenesis (traceable author statement from ProtInc).
GO:0006511; Biological process: ubiquitin-dependent protein catabolic process (inferred from electronic annotation from InterPro).
QuickGo view.
Family and domain databases
InterPro IPR018200; Pept_C19ubi-hydrolase_C_CS.
IPR001394; Peptidase_C19.
Graphical view of domain structure.
Pfam PF00443; UCH; 1.
Pfam graphical view of domain structure.
PROSITE PS00972; UCH_2_1; 1.
PS00973; UCH_2_2; 1.
PS50235; UCH_2_3; 1.
PROSITE graphical view of domain structure (profiles).
Proteomic databases
PRIDE O00507; -.
Genome annotation databases
Ensembl ENSG00000114374; Homo sapiens. [Contig view]
GeneID 100130216; -.
8287; -.
KEGG hsa:8287; -.
Phylogenomic databases
HOVERGEN O00507; -.
Other
NextBio 31053; -.
SOURCE USP9Y; Homo sapiens.
ProtoNet O00507.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Alternative splicing; Cytoplasm; Hydrolase; Polymorphism; Protease; Thiol protease; Ubl conjugation pathway.
Features
SEVIEWER logo Feature table viewer
KeyFrom    To Length Description FTId
CHAIN   1   2555  2555     Probable ubiquitin carboxyl-terminal hydrolase FAF-Y. PRO_0000080690
ACT_SITE   1568   1568        By similarity. 
ACT_SITE   1873   1873        By similarity. 
ACT_SITE   1881   1881        By similarity. 
VAR_SEQ   2071   2555        Missing (in isoform Short). VSP_005272
VARIANT   65     65  1     E -> D (in dbSNP:rs7067496 [NCBI]). VAR_055350 
VARIANT   211    211  1     R -> C (in dbSNP:rs2032596 [NCBI]). VAR_055351 
VARIANT   1035   1035  1     P -> S (in dbSNP:rs20319 [NCBI]). VAR_029328 
VARIANT   1060   1060  1     A -> T (in dbSNP:rs20320 [NCBI]). VAR_016194 
VARIANT   1705   1705  1     A -> S (in dbSNP:rs2032606 [NCBI]). VAR_055352 
CONFLICT   206    206        D -> E (in Ref. 3; CAA73940/CAA73941). 
CONFLICT   282    282        I -> M (in Ref. 2; AAC51833). 
CONFLICT   524    524        D -> Y (in Ref. 2; AAC51833). 
CONFLICT   542    542        S -> A (in Ref. 2; AAC51833). 
CONFLICT   666    666        L -> V (in Ref. 2; AAC51833). 
CONFLICT   883    883        R -> C (in Ref. 3; CAA73940/CAA73941). 
CONFLICT   907    907        S -> F (in Ref. 3; CAA73940/CAA73941). 
CONFLICT   946    946        D -> N (in Ref. 3; CAA73940/CAA73941). 
CONFLICT   1002   1002        E -> K (in Ref. 3; CAA73940/CAA73941). 
CONFLICT   1017   1017        R -> K (in Ref. 3; CAA73940/CAA73941). 
CONFLICT   1025   1027        VAD -> FAN (in Ref. 3; CAA73940/CAA73941). 
CONFLICT   1038   1039        RD -> KN (in Ref. 3; CAA73940/CAA73941). 
CONFLICT   1067   1067        K -> N (in Ref. 3; CAA73940/CAA73941). 
CONFLICT   1258   1258        V -> F (in Ref. 3; CAA73940/CAA73941). 
CONFLICT   1733   1733        Y -> F (in Ref. 3; CAA73940/CAA73941). 
CONFLICT   1953   1953        L -> P (in Ref. 3; CAA73940/CAA73941). 
CONFLICT   2086   2086        R -> G (in Ref. 2; AAC51833). 
Sequence information
Length: 2555 AA [This is the length of the unprocessed precursor] Molecular weight: 291077 Da [This is the MW of the unprocessed precursor] CRC64: 421D47D5899F4415 [This is a checksum on the sequence]
        10         20         30         40         50         60 
MTAITHGSPV GGNDSQGQVL DGQSQHLFQQ NQTSSPDSSN ENSVATPPPE EQGQGDAPPQ 

        70         80         90        100        110        120 
HEDEEPAFPH TELANLDDMI NRPRWVVPVL PKGELEVLLE AAIDLSVKGL DVKSEACQRF 

       130        140        150        160        170        180 
FRDGLTISFT KILMDEAVSG WKFEIHRCII NNTHRLVELC VAKLSQDWFP LLELLAMALN 

       190        200        210        220        230        240 
PHCKFHIYNG TRPCELISSN AQLPEDELFA RSSDPRSPKG WLVDLINKFG TLNGFQILHD 

       250        260        270        280        290        300 
RFFNGSALNI QIIAALIKPF GQCYEFLSQH TLKKYFIPVI EIVPHLLENL TDEELKKEAK 

       310        320        330        340        350        360 
NEAKNDALSM IIKSLKNLAS RISGQDETIK NLEIFRLKMI LRLLQISSFN GKMNALNEIN 

       370        380        390        400        410        420 
KVISSVSYYT HRHSNPEEEE WLTAERMAEW IQQNNILSIV LQDSLHQPQY VEKLEKILRF 

       430        440        450        460        470        480 
VIKEKALTLQ DLDNIWAAQA GKHEAIVKNV HDLLAKLAWD FSPGQLDHLF DCFKASWTNA 

       490        500        510        520        530        540 
SKKQREKLLE LIRRLAEDDK DGVMAHKVLN LLWNLAQSDD VPVDIMDLAL SAHIKILDYS 

       550        560        570        580        590        600 
CSQDRDAQKI QWIDHFIEEL RTNDKWVIPA LKQIREICSL FGEASQNLSQ TQRSPHIFYR 

       610        620        630        640        650        660 
HDLINQLQQN HALVTLVAEN LATYMNSIRL YAGDHEDYDP QTVRLGSRYS HVQEVQERLN 

       670        680        690        700        710        720 
FLRFLLKDGQ LWLCAPQAKQ IWKCLAENAV YLCDREACFK WYSKLMGDEP DLDPDINKDF 

       730        740        750        760        770        780 
FESNVLQLDP SLLTENGMKC FERFFKAVNC RERKLIAKRR SYMMDDLELI GLDYLWRVVI 

       790        800        810        820        830        840 
QSSDEIANRA IDLLKEIYTN LGPRLKANQV VIHEDFIQSC FDRLKASYDT LCVFDGDKNS 

       850        860        870        880        890        900 
INCARQEAIR MVRVLTVIKE YINECDSDYH KERMILPMSR AFRGKHLSLI VRFPNQGRQV 

       910        920        930        940        950        960 
DELDIWSHTN DTIGSVRRCI VNRIKANVAH KKIELFVGGE LIDSEDDRKL IGQLNLKDKS 

       970        980        990       1000       1010       1020 
LITAKLTQIN FNMPSSPDSS SDSSTASPGN HRNHYNDGPN LEVESCLPGV IMSVHPRYIS 

      1030       1040       1050       1060       1070       1080 
FLWQVADLGS NLNMPPLRDG ARVLMKLMPP DRTAVEKLRA VCLDHAKLGE GKLSPPLDSL 

      1090       1100       1110       1120       1130       1140 
FFGPSASQVL YLTEVVYALL MPAGVPLTDG SSDFQVHFLK SGGLPLVLSM LIRNNFLPNT 

      1150       1160       1170       1180       1190       1200 
DMETRRGAYL NALKIAKLLL TAIGYGHVRA VAEACQPVVD GTDPITQINQ VTHDQAVVLQ 

      1210       1220       1230       1240       1250       1260 
SALQSIPNPS SECVLRNESI LLAQEISNEA SRYMPDICVI RAIQKIIWAS ACGALGLVFS 

      1270       1280       1290       1300       1310       1320 
PNEEITKIYQ MTTNGSNKLE VEDEQVCCEA LEVMTLCFAL LPTALDALSK EKAWQTFIID 

      1330       1340       1350       1360       1370       1380 
LLLHCPSKTV RQLAQEQFFL MCTRCCMGHR PLLFFITLLF TILGSTAREK GKYSGDYFTL 

      1390       1400       1410       1420       1430       1440 
LRHLLNYAYN GNINIPNAEV LLVSEIDWLK RIRDNVKNTG ETGVEEPILE GHLGVTKELL 

      1450       1460       1470       1480       1490       1500 
AFQTSEKKYH FGCEKGGANL IKELIDDFIF PASKVYLQYL RSGELPAEQA IPVCSSPVTI 

      1510       1520       1530       1540       1550       1560 
NAGFELLVAL AIGCVRNLKQ IVDCLTEMYY MGTAITTCEA LTEWEYLPPV GPRPPKGFVG 

      1570       1580       1590       1600       1610       1620 
LKNAGATCYM NSVIQQLYMI PSIRNSILAI EGTGSDLHDD MFGDEKQDSE SNVDPRDDVF 

      1630       1640       1650       1660       1670       1680 
GYPHQFEDKP ALSKTEDRKE YNIGVLRHLQ VIFGHLAASQ LQYYVPRGFW KQFRLWGEPV 

      1690       1700       1710       1720       1730       1740 
NLREQHDALE FFNSLVDSLD EALKALGHPA ILSKVLGGSF ADQKICQGCP HRYECEESFT 

      1750       1760       1770       1780       1790       1800 
TLNVDIRNHQ NLLDSLEQYI KGDLLEGANA YHCEKCDKKV DTVKRLLIKK LPRVLAIQLK 

      1810       1820       1830       1840       1850       1860 
RFDYDWEREC AIKFNDYFEF PRELDMGPYT VAGVANLERD NVNSENELIE QKEQSDNETA 

      1870       1880       1890       1900       1910       1920 
GGTKYRLVGV LVHSGQASGG HYYSYIIQRN GKDDQTDHWY KFDDGDVTEC KMDDDEEMKN 

      1930       1940       1950       1960       1970       1980 
QCFGGEYMGE VFDHMMKRMS YRRQKRWWNA YILFYEQMDM IDEDDEMIRY ISELTIARPH 

      1990       2000       2010       2020       2030       2040 
QIIMSPAIER SVRKQNVKFM HNRLQYSLEY FQFVKKLLTC NGVYLNPAPG QDYLLPEAEE 

      2050       2060       2070       2080       2090       2100 
ITMISIQLAA RFLFTTGFHT KKIVRGPASD WYDALCVLLR HSKNVRFWFT HNVLFNVSNR 

      2110       2120       2130       2140       2150       2160 
FSEYLLECPS AEVRGAFAKL IVFIAHFSLQ DGSCPSPFAS PGPSSQACDN LSLSDHLLRA 

      2170       2180       2190       2200       2210       2220 
TLNLLRREVS EHGHHLQQYF NLFVMYANLG VAEKTQLLKL NVPATFMLVS LDEGPGPPIK 

      2230       2240       2250       2260       2270       2280 
YQYAELGKLY SVVSQLIRCC NVSSTMQSSI NGNPPLPNPF GDLNLSQPIM PIQQNVLDIL 

      2290       2300       2310       2320       2330       2340 
FVRTSYVKKI IEDCSNSEDT IKLLRFCSWE NPQFSSTVLS ELLWQVAYSY TYELRPYLDL 

      2350       2360       2370       2380       2390       2400 
LFQILLIEDS WQTHRIHNAL KGIPDDRDGL FDTIQRSKNH YQKRAYQCIK CMVALFSSCP 

      2410       2420       2430       2440       2450       2460 
VAYQILQGNG DLKRKWTWAV EWLGDELERR PYTGNPQYSY NNWSPPVQSN ETANGYFLER 

      2470       2480       2490       2500       2510       2520 
SHSARMTLAK ACELCPEEEP DDQDAPDEHE PSPSEDAPLY PHSPASQYQQ NNHVHGQPYT 

      2530       2540       2550 
GPAAHHLNNP QKTGQRTQEN YEGNEEVSSP QMKDQ 

O00507 in FASTA format

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