O00507 (USP9Y_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Probable ubiquitin carboxyl-terminal hydrolase FAF-Y
EC=3.4.19.12

Alternative name(s):
Deubiquitinating enzyme FAF-Y
Fat facets protein-related, Y-linked
Ubiquitin thioesterase FAF-Y
Ubiquitin-specific protease 9, Y chromosome
Ubiquitin-specific-processing protease FAF-Y

Gene names

Name:	USP9Y
Synonyms:	DFFRY

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	2555 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (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	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).
Subunit structure	Interacts with SMAD4 By similarity.
Subcellular location	Cytoplasm By similarity.
Tissue specificity	Widely expressed in embryonic and adult tissues.
Involvement in disease	USP9Y is located in the 'azoospermia factor a' (AZFa) region on chromosome Y which is deleted in Sertoli cell-only syndrome. This is an infertility disorder in which no germ cells are visible in seminiferous tubules leading to azoospermia. However, AZFa deletions resulting in complete loss of USP9Y have also been found in normospermic men (Ref.7). Spermatogenic failure Y-linked 2 (SPGFY2) [MIM:415000]: A disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility. Note: The disease may be caused by mutations affecting the gene represented in this entry. The role of USP9Y in spermatogenesis failure is uncertain. A 4-bp deletion in a splice-donor site, causing exon skipping and protein truncation has been observed in non-obstructive azoospermia (Ref.5). However, complete USP9Y deletion has been detected in individuals with no spermatogenic defects (Ref.7).
Sequence similarities	Belongs to the peptidase C19 family.

Ontologies

Keywords
Biological process	Ubl conjugation pathway
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing Polymorphism
Molecular function	Hydrolase Protease Thiol protease
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	BMP signaling pathway Inferred from sequence or structural similarity. Source: UniProtKB protein deubiquitination Inferred from sequence or structural similarity. Source: UniProtKB spermatogenesis Traceable author statement Ref.3. Source: ProtInc transforming growth factor beta receptor signaling pathway Inferred from sequence or structural similarity. Source: UniProtKB ubiquitin-dependent protein catabolic process Inferred from electronic annotation. Source: InterPro
Cellular_component	cytoplasm Inferred from sequence or structural similarity. Source: UniProtKB
Molecular_function	co-SMAD binding Inferred from sequence or structural similarity. Source: BHF-UCL ubiquitin thiolesterase activity Inferred from electronic annotation. Source: InterPro ubiquitin-specific protease activity Traceable author statement Ref.3. Source: ProtInc
Complete GO annotation...

Alternative products

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

Note: Additional isoforms seem to exist.

Isoform Long (identifier: O00507-1)

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 Short (identifier: O00507-2)

The sequence of this isoform differs from the canonical sequence as follows:
     2071-2555: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 2555	2555	Probable ubiquitin carboxyl-terminal hydrolase FAF-Y		PRO_0000080690
Sites
	Active site	1568	1	Nucleophile By similarity
	Active site	1881	1	Proton acceptor By similarity
Natural variations
	Alternative sequence	2071 – 2555	485	Missing in isoform Short.		VSP_005272
	Natural variant	65	1	E → D. Corresponds to variant rs7067496 [ dbSNP | Ensembl ].		VAR_055350
	Natural variant	211	1	R → C. Corresponds to variant rs2032596 [ dbSNP | Ensembl ].		VAR_055351
	Natural variant	1035	1	P → S. Corresponds to variant rs20319 [ dbSNP | Ensembl ].		VAR_029328
	Natural variant	1060	1	A → T. Ref.3 Corresponds to variant rs20320 [ dbSNP | Ensembl ].		VAR_016194
	Natural variant	1705	1	A → S. Corresponds to variant rs2032606 [ dbSNP | Ensembl ].		VAR_055352
Experimental info
	Sequence conflict	206	1	D → E in CAA73940. Ref.3
	Sequence conflict	206	1	D → E in CAA73941. Ref.3
	Sequence conflict	282	1	I → M in AAC51833. Ref.2
	Sequence conflict	524	1	D → Y in AAC51833. Ref.2
	Sequence conflict	542	1	S → A in AAC51833. Ref.2
	Sequence conflict	666	1	L → V in AAC51833. Ref.2
	Sequence conflict	883	1	R → C in CAA73940. Ref.3
	Sequence conflict	883	1	R → C in CAA73941. Ref.3
	Sequence conflict	907	1	S → F in CAA73940. Ref.3
	Sequence conflict	907	1	S → F in CAA73941. Ref.3
	Sequence conflict	946	1	D → N in CAA73940. Ref.3
	Sequence conflict	946	1	D → N in CAA73941. Ref.3
	Sequence conflict	1002	1	E → K in CAA73940. Ref.3
	Sequence conflict	1002	1	E → K in CAA73941. Ref.3
	Sequence conflict	1017	1	R → K in CAA73940. Ref.3
	Sequence conflict	1017	1	R → K in CAA73941. Ref.3
	Sequence conflict	1025 – 1027	3	VAD → FAN in CAA73940. Ref.3
	Sequence conflict	1025 – 1027	3	VAD → FAN in CAA73941. Ref.3
	Sequence conflict	1038 – 1039	2	RD → KN in CAA73940. Ref.3
	Sequence conflict	1038 – 1039	2	RD → KN in CAA73941. Ref.3
	Sequence conflict	1067	1	K → N in CAA73940. Ref.3
	Sequence conflict	1067	1	K → N in CAA73941. Ref.3
	Sequence conflict	1258	1	V → F in CAA73940. Ref.3
	Sequence conflict	1258	1	V → F in CAA73941. Ref.3
	Sequence conflict	1733	1	Y → F in CAA73940. Ref.3
	Sequence conflict	1733	1	Y → F in CAA73941. Ref.3
	Sequence conflict	1953	1	L → P in CAA73940. Ref.3
	Sequence conflict	1953	1	L → P in CAA73941. Ref.3
	Sequence conflict	2086	1	R → G in AAC51833. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform Long [UniParc]. Last modified May 5, 2009. Version 2. Checksum: 421D47D5899F4415	FASTA	2,555	291,077
	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
	Isoform Short [UniParc]. Checksum: 70219CB0CCD269C5	FASTA	2,070	235,723
	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 ITMISIQLAA RFLFTTGFHT KKIVRGPASD

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2." Jones M.H., Furlong R.A., Burkin H., Chalmers I.J., Brown G.M., Khwaja O., Affara N.A. Hum. Mol. Genet. 5:1695-1701(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Testis.
[2]	"Functional coherence of the human Y chromosome." Lahn B.T., Page D.C. Science 278:675-680(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[3]	"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." 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. Hum. Mol. Genet. 7:97-107(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], GENE MAPPING, VARIANT THR-1060. Tissue: Fetal brain, Retina and Testis.
[4]	"The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes." 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. Nature 423:825-837(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y." Sun C., Skaletsky H., Birren B., Devon K., Tang Z., Silber S., Oates R., Page D.C. Nat. Genet. 23:429-432(1999) [PubMed] [Europe PMC] [Abstract] Cited for: POSSIBLE INVOLVEMENT IN SPERMATOGENIC FAILURE.
[6]	"An unappreciated role for RNA surveillance." Hillman R.T., Green R.E., Brenner S.E. Genome Biol. 5:R8.1-R8.16(2004) [PubMed] [Europe PMC] [Abstract] Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
[7]	"Spermatogenesis in a man with complete deletion of USP9Y." Luddi A., Margollicci M., Gambera L., Serafini F., Cioni M., De Leo V., Balestri P., Piomboni P. N. Engl. J. Med. 360:881-885(2009) [PubMed] [Europe PMC] [Abstract] Cited for: LACK OF INVOLVEMENT IN SPERMATOGENIC FAILURE.
[8]	"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].
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF000986 mRNA. Translation: AAC51833.1. Y13618 mRNA. Translation: CAA73940.1. Y13619 mRNA. Translation: CAA73941.1. AC002531 Genomic DNA. No translation available.
IPI	IPI00744575. IPI00874074.
RefSeq	NP_004645.2. NM_004654.3.
UniGene	Hs.598540.
3D structure databases
ProteinModelPortal	O00507.
ModBase	Search...
Protein-protein interaction databases
IntAct	O00507. 4 interactions.
STRING	9606.ENSP00000342812.
Protein family/group databases
MEROPS	C19.028.
PTM databases
PhosphoSite	O00507.
Proteomic databases
PaxDb	O00507.
PRIDE	O00507.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000338981; ENSP00000342812; ENSG00000114374.
GeneID	8287.
KEGG	hsa:8287.
UCSC	uc004fst.1. human.
Organism-specific databases
CTD	8287.
GeneCards	GC0YP014813.
HGNC	HGNC:12633. USP9Y.
MIM	400005. gene. 415000. phenotype.
neXtProt	NX_O00507.
Orphanet	1646. Partial chromosome Y deletion.
PharmGKB	PA37258.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5077.
HOGENOM	HOG000231283.
HOVERGEN	HBG073749.
InParanoid	O00507.
KO	K11840.
OMA	RNIATIN.
OrthoDB	EOG46HG8S.
PhylomeDB	O00507.
Gene expression databases
Bgee	O00507.
CleanEx	HS_USP10. HS_USP9Y.
Genevestigator	O00507.
GermOnline	ENSG00000114374. Homo sapiens.
Family and domain databases
InterPro	IPR018200. Pept_C19ubi-hydrolase_C_CS. IPR001394. Peptidase_C19. [Graphical view]
Pfam	PF00443. UCH. 1 hit. [Graphical view]
PROSITE	PS00972. UCH_2_1. 1 hit. PS00973. UCH_2_2. 1 hit. PS50235. UCH_2_3. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	8287.
NextBio	31053.
SOURCE	Search...

Entry information

Entry name

USP9Y_HUMAN

Accession

Primary (citable) accession number: O00507
Secondary accession number(s): O14601

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	May 5, 2009
Last modified:	May 1, 2013
This is version 126 of the entry and version 2 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.