SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

O00507

- USP9Y_HUMAN

UniProt

O00507 - USP9Y_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein
Probable ubiquitin carboxyl-terminal hydrolase FAF-Y
Gene
USP9Y, DFFRY
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at transcript leveli

Functioni

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 activityi

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).

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei1568 – 15681Nucleophile By similarity
Active sitei1881 – 18811Proton acceptor By similarity

GO - Molecular functioni

  1. co-SMAD binding Source: BHF-UCL
  2. cysteine-type peptidase activity Source: ProtInc
  3. ubiquitin-specific protease activity Source: ProtInc
Complete GO annotation...

GO - Biological processi

  1. BMP signaling pathway Source: UniProtKB
  2. protein deubiquitination Source: UniProtKB
  3. spermatogenesis Source: ProtInc
  4. transforming growth factor beta receptor signaling pathway Source: UniProtKB
  5. ubiquitin-dependent protein catabolic process Source: InterPro
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Protease, Thiol protease

Keywords - Biological processi

Ubl conjugation pathway

Protein family/group databases

MEROPSiC19.028.

Names & Taxonomyi

Protein namesi
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 namesi
Name:USP9Y
Synonyms:DFFRY
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome Y

Organism-specific databases

HGNCiHGNC:12633. USP9Y.

Subcellular locationi

Cytoplasm By similarity

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

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 (1 Publication).
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 (1 Publication). However, complete USP9Y deletion has been detected in individuals with no spermatogenic defects (1 Publication).

Organism-specific databases

MIMi415000. phenotype.
Orphaneti1646. Partial chromosome Y deletion.
PharmGKBiPA37258.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 25552555Probable ubiquitin carboxyl-terminal hydrolase FAF-Y
PRO_0000080690Add
BLAST

Proteomic databases

MaxQBiO00507.
PaxDbiO00507.
PRIDEiO00507.

PTM databases

PhosphoSiteiO00507.

Expressioni

Tissue specificityi

Widely expressed in embryonic and adult tissues.

Gene expression databases

BgeeiO00507.
CleanExiHS_USP10.
HS_USP9Y.
GenevestigatoriO00507.

Interactioni

Subunit structurei

Interacts with SMAD4 By similarity.

Protein-protein interaction databases

BioGridi113892. 7 interactions.
IntActiO00507. 5 interactions.
MINTiMINT-7230431.
STRINGi9606.ENSP00000342812.

Structurei

3D structure databases

ProteinModelPortaliO00507.
SMRiO00507. Positions 1557-1995.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini1559 – 1958400USP
Add
BLAST

Sequence similaritiesi

Belongs to the peptidase C19 family.
Contains 1 USP domain.

Phylogenomic databases

eggNOGiCOG5077.
HOGENOMiHOG000231283.
HOVERGENiHBG073749.
InParanoidiO00507.
KOiK11840.
OMAiRNIATIN.
OrthoDBiEOG722J7K.
PhylomeDBiO00507.
TreeFamiTF323966.

Family and domain databases

InterProiIPR016024. ARM-type_fold.
IPR018200. Pept_C19ubi-hydrolase_C_CS.
IPR001394. Peptidase_C19_UCH.
IPR028889. UCH/PAN2.
[Graphical view]
PfamiPF00443. UCH. 1 hit.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 3 hits.
PROSITEiPS00972. USP_1. 1 hit.
PS00973. USP_2. 1 hit.
PS50235. USP_3. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Note: Additional isoforms seem to exist.

Isoform Long (identifier: O00507-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MTAITHGSPV GGNDSQGQVL DGQSQHLFQQ NQTSSPDSSN ENSVATPPPE     50
EQGQGDAPPQ HEDEEPAFPH TELANLDDMI NRPRWVVPVL PKGELEVLLE 100
AAIDLSVKGL DVKSEACQRF FRDGLTISFT KILMDEAVSG WKFEIHRCII 150
NNTHRLVELC VAKLSQDWFP LLELLAMALN PHCKFHIYNG TRPCELISSN 200
AQLPEDELFA RSSDPRSPKG WLVDLINKFG TLNGFQILHD RFFNGSALNI 250
QIIAALIKPF GQCYEFLSQH TLKKYFIPVI EIVPHLLENL TDEELKKEAK 300
NEAKNDALSM IIKSLKNLAS RISGQDETIK NLEIFRLKMI LRLLQISSFN 350
GKMNALNEIN KVISSVSYYT HRHSNPEEEE WLTAERMAEW IQQNNILSIV 400
LQDSLHQPQY VEKLEKILRF VIKEKALTLQ DLDNIWAAQA GKHEAIVKNV 450
HDLLAKLAWD FSPGQLDHLF DCFKASWTNA SKKQREKLLE LIRRLAEDDK 500
DGVMAHKVLN LLWNLAQSDD VPVDIMDLAL SAHIKILDYS CSQDRDAQKI 550
QWIDHFIEEL RTNDKWVIPA LKQIREICSL FGEASQNLSQ TQRSPHIFYR 600
HDLINQLQQN HALVTLVAEN LATYMNSIRL YAGDHEDYDP QTVRLGSRYS 650
HVQEVQERLN FLRFLLKDGQ LWLCAPQAKQ IWKCLAENAV YLCDREACFK 700
WYSKLMGDEP DLDPDINKDF FESNVLQLDP SLLTENGMKC FERFFKAVNC 750
RERKLIAKRR SYMMDDLELI GLDYLWRVVI QSSDEIANRA IDLLKEIYTN 800
LGPRLKANQV VIHEDFIQSC FDRLKASYDT LCVFDGDKNS INCARQEAIR 850
MVRVLTVIKE YINECDSDYH KERMILPMSR AFRGKHLSLI VRFPNQGRQV 900
DELDIWSHTN DTIGSVRRCI VNRIKANVAH KKIELFVGGE LIDSEDDRKL 950
IGQLNLKDKS LITAKLTQIN FNMPSSPDSS SDSSTASPGN HRNHYNDGPN 1000
LEVESCLPGV IMSVHPRYIS FLWQVADLGS NLNMPPLRDG ARVLMKLMPP 1050
DRTAVEKLRA VCLDHAKLGE GKLSPPLDSL FFGPSASQVL YLTEVVYALL 1100
MPAGVPLTDG SSDFQVHFLK SGGLPLVLSM LIRNNFLPNT DMETRRGAYL 1150
NALKIAKLLL TAIGYGHVRA VAEACQPVVD GTDPITQINQ VTHDQAVVLQ 1200
SALQSIPNPS SECVLRNESI LLAQEISNEA SRYMPDICVI RAIQKIIWAS 1250
ACGALGLVFS PNEEITKIYQ MTTNGSNKLE VEDEQVCCEA LEVMTLCFAL 1300
LPTALDALSK EKAWQTFIID LLLHCPSKTV RQLAQEQFFL MCTRCCMGHR 1350
PLLFFITLLF TILGSTAREK GKYSGDYFTL LRHLLNYAYN GNINIPNAEV 1400
LLVSEIDWLK RIRDNVKNTG ETGVEEPILE GHLGVTKELL AFQTSEKKYH 1450
FGCEKGGANL IKELIDDFIF PASKVYLQYL RSGELPAEQA IPVCSSPVTI 1500
NAGFELLVAL AIGCVRNLKQ IVDCLTEMYY MGTAITTCEA LTEWEYLPPV 1550
GPRPPKGFVG LKNAGATCYM NSVIQQLYMI PSIRNSILAI EGTGSDLHDD 1600
MFGDEKQDSE SNVDPRDDVF GYPHQFEDKP ALSKTEDRKE YNIGVLRHLQ 1650
VIFGHLAASQ LQYYVPRGFW KQFRLWGEPV NLREQHDALE FFNSLVDSLD 1700
EALKALGHPA ILSKVLGGSF ADQKICQGCP HRYECEESFT TLNVDIRNHQ 1750
NLLDSLEQYI KGDLLEGANA YHCEKCDKKV DTVKRLLIKK LPRVLAIQLK 1800
RFDYDWEREC AIKFNDYFEF PRELDMGPYT VAGVANLERD NVNSENELIE 1850
QKEQSDNETA GGTKYRLVGV LVHSGQASGG HYYSYIIQRN GKDDQTDHWY 1900
KFDDGDVTEC KMDDDEEMKN QCFGGEYMGE VFDHMMKRMS YRRQKRWWNA 1950
YILFYEQMDM IDEDDEMIRY ISELTIARPH QIIMSPAIER SVRKQNVKFM 2000
HNRLQYSLEY FQFVKKLLTC NGVYLNPAPG QDYLLPEAEE ITMISIQLAA 2050
RFLFTTGFHT KKIVRGPASD WYDALCVLLR HSKNVRFWFT HNVLFNVSNR 2100
FSEYLLECPS AEVRGAFAKL IVFIAHFSLQ DGSCPSPFAS PGPSSQACDN 2150
LSLSDHLLRA TLNLLRREVS EHGHHLQQYF NLFVMYANLG VAEKTQLLKL 2200
NVPATFMLVS LDEGPGPPIK YQYAELGKLY SVVSQLIRCC NVSSTMQSSI 2250
NGNPPLPNPF GDLNLSQPIM PIQQNVLDIL FVRTSYVKKI IEDCSNSEDT 2300
IKLLRFCSWE NPQFSSTVLS ELLWQVAYSY TYELRPYLDL LFQILLIEDS 2350
WQTHRIHNAL KGIPDDRDGL FDTIQRSKNH YQKRAYQCIK CMVALFSSCP 2400
VAYQILQGNG DLKRKWTWAV EWLGDELERR PYTGNPQYSY NNWSPPVQSN 2450
ETANGYFLER SHSARMTLAK ACELCPEEEP DDQDAPDEHE PSPSEDAPLY 2500
PHSPASQYQQ NNHVHGQPYT GPAAHHLNNP QKTGQRTQEN YEGNEEVSSP 2550
QMKDQ 2555
Length:2,555
Mass (Da):291,077
Last modified:May 5, 2009 - v2
Checksum:i421D47D5899F4415
GO
Isoform Short (identifier: O00507-2) [UniParc]FASTAAdd to Basket

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.

Show »
Length:2,070
Mass (Da):235,723
Checksum:i70219CB0CCD269C5
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti65 – 651E → D.
Corresponds to variant rs7067496 [ dbSNP | Ensembl ].
VAR_055350
Natural varianti211 – 2111R → C.
Corresponds to variant rs2032596 [ dbSNP | Ensembl ].
VAR_055351
Natural varianti1035 – 10351P → S.
Corresponds to variant rs20319 [ dbSNP | Ensembl ].
VAR_029328
Natural varianti1060 – 10601A → T.1 Publication
Corresponds to variant rs20320 [ dbSNP | Ensembl ].
VAR_016194
Natural varianti1705 – 17051A → S.
Corresponds to variant rs2032606 [ dbSNP | Ensembl ].
VAR_055352

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei2071 – 2555485Missing in isoform Short.
VSP_005272Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti206 – 2061D → E in CAA73940. 1 Publication
Sequence conflicti206 – 2061D → E in CAA73941. 1 Publication
Sequence conflicti282 – 2821I → M in AAC51833. 1 Publication
Sequence conflicti524 – 5241D → Y in AAC51833. 1 Publication
Sequence conflicti542 – 5421S → A in AAC51833. 1 Publication
Sequence conflicti666 – 6661L → V in AAC51833. 1 Publication
Sequence conflicti883 – 8831R → C in CAA73940. 1 Publication
Sequence conflicti883 – 8831R → C in CAA73941. 1 Publication
Sequence conflicti907 – 9071S → F in CAA73940. 1 Publication
Sequence conflicti907 – 9071S → F in CAA73941. 1 Publication
Sequence conflicti946 – 9461D → N in CAA73940. 1 Publication
Sequence conflicti946 – 9461D → N in CAA73941. 1 Publication
Sequence conflicti1002 – 10021E → K in CAA73940. 1 Publication
Sequence conflicti1002 – 10021E → K in CAA73941. 1 Publication
Sequence conflicti1017 – 10171R → K in CAA73940. 1 Publication
Sequence conflicti1017 – 10171R → K in CAA73941. 1 Publication
Sequence conflicti1025 – 10273VAD → FAN in CAA73940. 1 Publication
Sequence conflicti1025 – 10273VAD → FAN in CAA73941. 1 Publication
Sequence conflicti1038 – 10392RD → KN in CAA73940. 1 Publication
Sequence conflicti1038 – 10392RD → KN in CAA73941. 1 Publication
Sequence conflicti1067 – 10671K → N in CAA73940. 1 Publication
Sequence conflicti1067 – 10671K → N in CAA73941. 1 Publication
Sequence conflicti1258 – 12581V → F in CAA73940. 1 Publication
Sequence conflicti1258 – 12581V → F in CAA73941. 1 Publication
Sequence conflicti1733 – 17331Y → F in CAA73940. 1 Publication
Sequence conflicti1733 – 17331Y → F in CAA73941. 1 Publication
Sequence conflicti1953 – 19531L → P in CAA73940. 1 Publication
Sequence conflicti1953 – 19531L → P in CAA73941. 1 Publication
Sequence conflicti2086 – 20861R → G in AAC51833. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF000986 mRNA. Translation: AAC51833.1.
Y13618 mRNA. Translation: CAA73940.1.
Y13619 mRNA. Translation: CAA73941.1.
AC002531 Genomic DNA. No translation available.
CCDSiCCDS14781.1. [O00507-1]
RefSeqiNP_004645.2. NM_004654.3. [O00507-1]
UniGeneiHs.598540.

Genome annotation databases

EnsembliENST00000338981; ENSP00000342812; ENSG00000114374. [O00507-1]
GeneIDi8287.
KEGGihsa:8287.
UCSCiuc004fst.1. human. [O00507-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF000986 mRNA. Translation: AAC51833.1 .
Y13618 mRNA. Translation: CAA73940.1 .
Y13619 mRNA. Translation: CAA73941.1 .
AC002531 Genomic DNA. No translation available.
CCDSi CCDS14781.1. [O00507-1 ]
RefSeqi NP_004645.2. NM_004654.3. [O00507-1 ]
UniGenei Hs.598540.

3D structure databases

ProteinModelPortali O00507.
SMRi O00507. Positions 1557-1995.
ModBasei Search...

Protein-protein interaction databases

BioGridi 113892. 7 interactions.
IntActi O00507. 5 interactions.
MINTi MINT-7230431.
STRINGi 9606.ENSP00000342812.

Protein family/group databases

MEROPSi C19.028.

PTM databases

PhosphoSitei O00507.

Proteomic databases

MaxQBi O00507.
PaxDbi O00507.
PRIDEi O00507.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000338981 ; ENSP00000342812 ; ENSG00000114374 . [O00507-1 ]
GeneIDi 8287.
KEGGi hsa:8287.
UCSCi uc004fst.1. human. [O00507-1 ]

Organism-specific databases

CTDi 8287.
GeneCardsi GC0YP014813.
GeneReviewsi USP9Y.
HGNCi HGNC:12633. USP9Y.
MIMi 400005. gene.
415000. phenotype.
neXtProti NX_O00507.
Orphaneti 1646. Partial chromosome Y deletion.
PharmGKBi PA37258.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5077.
HOGENOMi HOG000231283.
HOVERGENi HBG073749.
InParanoidi O00507.
KOi K11840.
OMAi RNIATIN.
OrthoDBi EOG722J7K.
PhylomeDBi O00507.
TreeFami TF323966.

Miscellaneous databases

GeneWikii USP9Y.
GenomeRNAii 8287.
NextBioi 31053.
PROi O00507.
SOURCEi Search...

Gene expression databases

Bgeei O00507.
CleanExi HS_USP10.
HS_USP9Y.
Genevestigatori O00507.

Family and domain databases

InterProi IPR016024. ARM-type_fold.
IPR018200. Pept_C19ubi-hydrolase_C_CS.
IPR001394. Peptidase_C19_UCH.
IPR028889. UCH/PAN2.
[Graphical view ]
Pfami PF00443. UCH. 1 hit.
[Graphical view ]
SUPFAMi SSF48371. SSF48371. 3 hits.
PROSITEi PS00972. USP_1. 1 hit.
PS00973. USP_2. 1 hit.
PS50235. USP_3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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. Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
  7. Cited for: LACK OF INVOLVEMENT IN SPERMATOGENIC FAILURE.

Entry informationi

Entry nameiUSP9Y_HUMAN
AccessioniPrimary (citable) accession number: O00507
Secondary accession number(s): O14601
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: May 5, 2009
Last modified: July 9, 2014
This is version 138 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome Y
    Human chromosome Y: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Peptidase families
    Classification of peptidase families and list of entries
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi