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UniProtKB - O00507 (USP9Y_HUMAN)

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Protein

Probable ubiquitin carboxyl-terminal hydrolase FAF-Y

Gene

USP9Y

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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 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. Deubiquitination of SMAD4 by USP9X re-empowers its competence to mediate TGF-beta signaling (By similarity).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)DescriptionActionsGraphical viewLength
Active sitei1568NucleophilePROSITE-ProRule annotation1
Active sitei1881Proton acceptorPROSITE-ProRule annotation1

GO - Molecular functioni

  • co-SMAD binding Source: BHF-UCL
  • cysteine-type peptidase activity Source: ProtInc
  • thiol-dependent ubiquitin-specific protease activity Source: ProtInc
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionHydrolase, Protease, Thiol protease
Biological processUbl 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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome Y

Organism-specific databases

EuPathDBiHostDB:ENSG00000114374.12
HGNCiHGNC:12633 USP9Y
MIMi400005 gene
neXtProtiNX_O00507

Subcellular locationi

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 (PubMed:19246359).1 Publication
Spermatogenic failure Y-linked 2 (SPGFY2)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry. The role of USP9Y in spermatogenesis failure is uncertain (PubMed:19246359). A 4-bp deletion in a splice-donor site, causing exon skipping and protein truncation has been observed in non-obstructive azoospermia (PubMed:10581029). However, complete USP9Y deletion has been detected in individuals with no spermatogenic defects (PubMed:19246359).2 Publications
Disease descriptionA disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility.
See also OMIM:415000

Organism-specific databases

DisGeNETi8287
GeneReviewsiUSP9Y
MalaCardsiUSP9Y
MIMi415000 phenotype
OpenTargetsiENSG00000114374
Orphaneti1646 Partial chromosome Y deletion
PharmGKBiPA37258

Polymorphism and mutation databases

BioMutaiUSP9Y

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000806901 – 2555Probable ubiquitin carboxyl-terminal hydrolase FAF-YAdd BLAST2555

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei589PhosphoserineBy similarity1
Modified residuei591PhosphothreonineBy similarity1
Modified residuei2444PhosphoserineBy similarity1
Modified residuei2541PhosphotyrosineBy similarity1
Modified residuei2548PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO00507
MaxQBiO00507
PaxDbiO00507
PeptideAtlasiO00507
PRIDEiO00507
ProteomicsDBi47948
47949 [O00507-2]

PTM databases

CarbonylDBiO00507
iPTMnetiO00507
PhosphoSitePlusiO00507

Expressioni

Tissue specificityi

Widely expressed in embryonic and adult tissues.

Gene expression databases

BgeeiENSG00000114374
CleanExiHS_USP10
HS_USP9Y
ExpressionAtlasiO00507 baseline and differential
GenevisibleiO00507 HS

Organism-specific databases

HPAiHPA057687

Interactioni

Subunit structurei

Interacts with SMAD4.By similarity

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi113892, 18 interactors
IntActiO00507, 7 interactors
MINTiO00507
STRINGi9606.ENSP00000342812

Structurei

3D structure databases

ProteinModelPortaliO00507
SMRiO00507
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1559 – 1958USPAdd BLAST400

Sequence similaritiesi

Belongs to the peptidase C19 family.Curated

Phylogenomic databases

eggNOGiKOG1866 Eukaryota
COG5077 LUCA
GeneTreeiENSGT00760000119158
HOGENOMiHOG000231283
HOVERGENiHBG073749
InParanoidiO00507
KOiK11840
OMAiFLQQLFM
OrthoDBiEOG091G0069
PhylomeDBiO00507
TreeFamiTF323966

Family and domain databases

InterProiView protein in InterPro
IPR016024 ARM-type_fold
IPR038765 Papain_like_cys_pep_sf
IPR001394 Peptidase_C19_UCH
IPR018200 USP_CS
IPR028889 USP_dom
PfamiView protein in Pfam
PF00443 UCH, 1 hit
SUPFAMiSSF48371 SSF48371, 3 hits
SSF54001 SSF54001, 2 hits
PROSITEiView protein in PROSITE
PS00972 USP_1, 1 hit
PS00973 USP_2, 1 hit
PS50235 USP_3, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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

        10         20         30         40         50
MTAITHGSPV GGNDSQGQVL DGQSQHLFQQ NQTSSPDSSN ENSVATPPPE 
        60         70         80         90        100
EQGQGDAPPQ HEDEEPAFPH TELANLDDMI NRPRWVVPVL PKGELEVLLE 
       110        120        130        140        150
AAIDLSVKGL DVKSEACQRF FRDGLTISFT KILMDEAVSG WKFEIHRCII 
       160        170        180        190        200
NNTHRLVELC VAKLSQDWFP LLELLAMALN PHCKFHIYNG TRPCELISSN 
       210        220        230        240        250
AQLPEDELFA RSSDPRSPKG WLVDLINKFG TLNGFQILHD RFFNGSALNI 
       260        270        280        290        300
QIIAALIKPF GQCYEFLSQH TLKKYFIPVI EIVPHLLENL TDEELKKEAK 
       310        320        330        340        350
NEAKNDALSM IIKSLKNLAS RISGQDETIK NLEIFRLKMI LRLLQISSFN 
       360        370        380        390        400
GKMNALNEIN KVISSVSYYT HRHSNPEEEE WLTAERMAEW IQQNNILSIV 
       410        420        430        440        450
LQDSLHQPQY VEKLEKILRF VIKEKALTLQ DLDNIWAAQA GKHEAIVKNV 
       460        470        480        490        500
HDLLAKLAWD FSPGQLDHLF DCFKASWTNA SKKQREKLLE LIRRLAEDDK 
       510        520        530        540        550
DGVMAHKVLN LLWNLAQSDD VPVDIMDLAL SAHIKILDYS CSQDRDAQKI 
       560        570        580        590        600
QWIDHFIEEL RTNDKWVIPA LKQIREICSL FGEASQNLSQ TQRSPHIFYR 
       610        620        630        640        650
HDLINQLQQN HALVTLVAEN LATYMNSIRL YAGDHEDYDP QTVRLGSRYS 
       660        670        680        690        700
HVQEVQERLN FLRFLLKDGQ LWLCAPQAKQ IWKCLAENAV YLCDREACFK 
       710        720        730        740        750
WYSKLMGDEP DLDPDINKDF FESNVLQLDP SLLTENGMKC FERFFKAVNC 
       760        770        780        790        800
RERKLIAKRR SYMMDDLELI GLDYLWRVVI QSSDEIANRA IDLLKEIYTN 
       810        820        830        840        850
LGPRLKANQV VIHEDFIQSC FDRLKASYDT LCVFDGDKNS INCARQEAIR 
       860        870        880        890        900
MVRVLTVIKE YINECDSDYH KERMILPMSR AFRGKHLSLI VRFPNQGRQV 
       910        920        930        940        950
DELDIWSHTN DTIGSVRRCI VNRIKANVAH KKIELFVGGE LIDSEDDRKL 
       960        970        980        990       1000
IGQLNLKDKS LITAKLTQIN FNMPSSPDSS SDSSTASPGN HRNHYNDGPN 
      1010       1020       1030       1040       1050
LEVESCLPGV IMSVHPRYIS FLWQVADLGS NLNMPPLRDG ARVLMKLMPP 
      1060       1070       1080       1090       1100
DRTAVEKLRA VCLDHAKLGE GKLSPPLDSL FFGPSASQVL YLTEVVYALL 
      1110       1120       1130       1140       1150
MPAGVPLTDG SSDFQVHFLK SGGLPLVLSM LIRNNFLPNT DMETRRGAYL 
      1160       1170       1180       1190       1200
NALKIAKLLL TAIGYGHVRA VAEACQPVVD GTDPITQINQ VTHDQAVVLQ 
      1210       1220       1230       1240       1250
SALQSIPNPS SECVLRNESI LLAQEISNEA SRYMPDICVI RAIQKIIWAS 
      1260       1270       1280       1290       1300
ACGALGLVFS PNEEITKIYQ MTTNGSNKLE VEDEQVCCEA LEVMTLCFAL 
      1310       1320       1330       1340       1350
LPTALDALSK EKAWQTFIID LLLHCPSKTV RQLAQEQFFL MCTRCCMGHR 
      1360       1370       1380       1390       1400
PLLFFITLLF TILGSTAREK GKYSGDYFTL LRHLLNYAYN GNINIPNAEV 
      1410       1420       1430       1440       1450
LLVSEIDWLK RIRDNVKNTG ETGVEEPILE GHLGVTKELL AFQTSEKKYH 
      1460       1470       1480       1490       1500
FGCEKGGANL IKELIDDFIF PASKVYLQYL RSGELPAEQA IPVCSSPVTI 
      1510       1520       1530       1540       1550
NAGFELLVAL AIGCVRNLKQ IVDCLTEMYY MGTAITTCEA LTEWEYLPPV 
      1560       1570       1580       1590       1600
GPRPPKGFVG LKNAGATCYM NSVIQQLYMI PSIRNSILAI EGTGSDLHDD 
      1610       1620       1630       1640       1650
MFGDEKQDSE SNVDPRDDVF GYPHQFEDKP ALSKTEDRKE YNIGVLRHLQ 
      1660       1670       1680       1690       1700
VIFGHLAASQ LQYYVPRGFW KQFRLWGEPV NLREQHDALE FFNSLVDSLD 
      1710       1720       1730       1740       1750
EALKALGHPA ILSKVLGGSF ADQKICQGCP HRYECEESFT TLNVDIRNHQ 
      1760       1770       1780       1790       1800
NLLDSLEQYI KGDLLEGANA YHCEKCDKKV DTVKRLLIKK LPRVLAIQLK 
      1810       1820       1830       1840       1850
RFDYDWEREC AIKFNDYFEF PRELDMGPYT VAGVANLERD NVNSENELIE 
      1860       1870       1880       1890       1900
QKEQSDNETA GGTKYRLVGV LVHSGQASGG HYYSYIIQRN GKDDQTDHWY 
      1910       1920       1930       1940       1950
KFDDGDVTEC KMDDDEEMKN QCFGGEYMGE VFDHMMKRMS YRRQKRWWNA 
      1960       1970       1980       1990       2000
YILFYEQMDM IDEDDEMIRY ISELTIARPH QIIMSPAIER SVRKQNVKFM 
      2010       2020       2030       2040       2050
HNRLQYSLEY FQFVKKLLTC NGVYLNPAPG QDYLLPEAEE ITMISIQLAA 
      2060       2070       2080       2090       2100
RFLFTTGFHT KKIVRGPASD WYDALCVLLR HSKNVRFWFT HNVLFNVSNR 
      2110       2120       2130       2140       2150
FSEYLLECPS AEVRGAFAKL IVFIAHFSLQ DGSCPSPFAS PGPSSQACDN 
      2160       2170       2180       2190       2200
LSLSDHLLRA TLNLLRREVS EHGHHLQQYF NLFVMYANLG VAEKTQLLKL 
      2210       2220       2230       2240       2250
NVPATFMLVS LDEGPGPPIK YQYAELGKLY SVVSQLIRCC NVSSTMQSSI 
      2260       2270       2280       2290       2300
NGNPPLPNPF GDLNLSQPIM PIQQNVLDIL FVRTSYVKKI IEDCSNSEDT 
      2310       2320       2330       2340       2350
IKLLRFCSWE NPQFSSTVLS ELLWQVAYSY TYELRPYLDL LFQILLIEDS 
      2360       2370       2380       2390       2400
WQTHRIHNAL KGIPDDRDGL FDTIQRSKNH YQKRAYQCIK CMVALFSSCP 
      2410       2420       2430       2440       2450
VAYQILQGNG DLKRKWTWAV EWLGDELERR PYTGNPQYSY NNWSPPVQSN 
      2460       2470       2480       2490       2500
ETANGYFLER SHSARMTLAK ACELCPEEEP DDQDAPDEHE PSPSEDAPLY 
      2510       2520       2530       2540       2550
PHSPASQYQQ NNHVHGQPYT GPAAHHLNNP QKTGQRTQEN YEGNEEVSSP 

QMKDQ
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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti206D → E in CAA73940 (PubMed:9384609).Curated1
Sequence conflicti206D → E in CAA73941 (PubMed:9384609).Curated1
Sequence conflicti282I → M in AAC51833 (PubMed:9381176).Curated1
Sequence conflicti524D → Y in AAC51833 (PubMed:9381176).Curated1
Sequence conflicti542S → A in AAC51833 (PubMed:9381176).Curated1
Sequence conflicti666L → V in AAC51833 (PubMed:9381176).Curated1
Sequence conflicti883R → C in CAA73940 (PubMed:9384609).Curated1
Sequence conflicti883R → C in CAA73941 (PubMed:9384609).Curated1
Sequence conflicti907S → F in CAA73940 (PubMed:9384609).Curated1
Sequence conflicti907S → F in CAA73941 (PubMed:9384609).Curated1
Sequence conflicti946D → N in CAA73940 (PubMed:9384609).Curated1
Sequence conflicti946D → N in CAA73941 (PubMed:9384609).Curated1
Sequence conflicti1002E → K in CAA73940 (PubMed:9384609).Curated1
Sequence conflicti1002E → K in CAA73941 (PubMed:9384609).Curated1
Sequence conflicti1017R → K in CAA73940 (PubMed:9384609).Curated1
Sequence conflicti1017R → K in CAA73941 (PubMed:9384609).Curated1
Sequence conflicti1025 – 1027VAD → FAN in CAA73940 (PubMed:9384609).Curated3
Sequence conflicti1025 – 1027VAD → FAN in CAA73941 (PubMed:9384609).Curated3
Sequence conflicti1038 – 1039RD → KN in CAA73940 (PubMed:9384609).Curated2
Sequence conflicti1038 – 1039RD → KN in CAA73941 (PubMed:9384609).Curated2
Sequence conflicti1067K → N in CAA73940 (PubMed:9384609).Curated1
Sequence conflicti1067K → N in CAA73941 (PubMed:9384609).Curated1
Sequence conflicti1258V → F in CAA73940 (PubMed:9384609).Curated1
Sequence conflicti1258V → F in CAA73941 (PubMed:9384609).Curated1
Sequence conflicti1733Y → F in CAA73940 (PubMed:9384609).Curated1
Sequence conflicti1733Y → F in CAA73941 (PubMed:9384609).Curated1
Sequence conflicti1953L → P in CAA73940 (PubMed:9384609).Curated1
Sequence conflicti1953L → P in CAA73941 (PubMed:9384609).Curated1
Sequence conflicti2086R → G in AAC51833 (PubMed:9381176).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05535065E → D. Corresponds to variant dbSNP:rs7067496Ensembl.1
Natural variantiVAR_055351211R → C. Corresponds to variant dbSNP:rs2032596Ensembl.1
Natural variantiVAR_0293281035P → S. Corresponds to variant dbSNP:rs20319Ensembl.1
Natural variantiVAR_0161941060A → T1 PublicationCorresponds to variant dbSNP:rs20320Ensembl.1
Natural variantiVAR_0553521705A → S. Corresponds to variant dbSNP:rs2032606Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0052722071 – 2555Missing in isoform Short. CuratedAdd BLAST485

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.2 human [O00507-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiUSP9Y_HUMAN
AccessioniPrimary (citable) accession number: O00507
Secondary accession number(s): O14601
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: May 5, 2009
Last modified: June 20, 2018
This is version 172 of the entry and version 2 of the sequence. See 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

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