• Gene id: 8287

Gene Summary

• Gene Symbol: USP9Y   Gene   UCSC   Ensembl
• Aliases: DFFRY, SPGFY2
• Gene name: ubiquitin specific peptidase 9, Y-linked
• Alternate names: probable ubiquitin carboxyl-terminal hydrolase FAF-Y, deubiquitinating enzyme FAF-Y, fat facets protein-related, Y-linked, ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila), ubiquitin thioesterase FAF-Y, ubiquitin thiolesterase FAF-Y,,
• Gene location: Yq11.221 (12701230: 12860842)     Exons: 47     NC_000024.10
• Gene summary(Entrez): This gene is a member of the peptidase C19 family. It encodes a protein that is similar to ubiquitin-specific proteases, which cleave the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. [provided by RefSeq, Mar 2009]
• OMIM: 400005

Protein Summary

• Protein general information: O00507  
  • Name: Probable ubiquitin carboxyl terminal hydrolase FAF Y (EC 3.4.19.12) (Deubiquitinating enzyme FAF Y) (Fat facets protein related, Y linked) (Ubiquitin thioesterase FAF Y) (Ubiquitin specific protease 9, Y chromosome) (Ubiquitin specific processing protease
  • Length: 2555  
  • Mass: 291077
  • Tissue specificity: Widely expressed in embryonic and adult tissues.
• Sequence:

  MTAITHGSPVGGNDSQGQVLDGQSQHLFQQNQTSSPDSSNENSVATPPPEEQGQGDAPPQHEDEEPAFPHTELAN
  LDDMINRPRWVVPVLPKGELEVLLEAAIDLSVKGLDVKSEACQRFFRDGLTISFTKILMDEAVSGWKFEIHRCII
  NNTHRLVELCVAKLSQDWFPLLELLAMALNPHCKFHIYNGTRPCELISSNAQLPEDELFARSSDPRSPKGWLVDL
  INKFGTLNGFQILHDRFFNGSALNIQIIAALIKPFGQCYEFLSQHTLKKYFIPVIEIVPHLLENLTDEELKKEAK
  NEAKNDALSMIIKSLKNLASRISGQDETIKNLEIFRLKMILRLLQISSFNGKMNALNEINKVISSVSYYTHRHSN
  PEEEEWLTAERMAEWIQQNNILSIVLQDSLHQPQYVEKLEKILRFVIKEKALTLQDLDNIWAAQAGKHEAIVKNV
  HDLLAKLAWDFSPGQLDHLFDCFKASWTNASKKQREKLLELIRRLAEDDKDGVMAHKVLNLLWNLAQSDDVPVDI
  MDLALSAHIKILDYSCSQDRDAQKIQWIDHFIEELRTNDKWVIPALKQIREICSLFGEASQNLSQTQRSPHIFYR
  HDLINQLQQNHALVTLVAENLATYMNSIRLYAGDHEDYDPQTVRLGSRYSHVQEVQERLNFLRFLLKDGQLWLCA
  PQAKQIWKCLAENAVYLCDREACFKWYSKLMGDEPDLDPDINKDFFESNVLQLDPSLLTENGMKCFERFFKAVNC
  RERKLIAKRRSYMMDDLELIGLDYLWRVVIQSSDEIANRAIDLLKEIYTNLGPRLKANQVVIHEDFIQSCFDRLK
  ASYDTLCVFDGDKNSINCARQEAIRMVRVLTVIKEYINECDSDYHKERMILPMSRAFRGKHLSLIVRFPNQGRQV
  DELDIWSHTNDTIGSVRRCIVNRIKANVAHKKIELFVGGELIDSEDDRKLIGQLNLKDKSLITAKLTQINFNMPS
  SPDSSSDSSTASPGNHRNHYNDGPNLEVESCLPGVIMSVHPRYISFLWQVADLGSNLNMPPLRDGARVLMKLMPP
  DRTAVEKLRAVCLDHAKLGEGKLSPPLDSLFFGPSASQVLYLTEVVYALLMPAGVPLTDGSSDFQVHFLKSGGLP
  LVLSMLIRNNFLPNTDMETRRGAYLNALKIAKLLLTAIGYGHVRAVAEACQPVVDGTDPITQINQVTHDQAVVLQ
  SALQSIPNPSSECVLRNESILLAQEISNEASRYMPDICVIRAIQKIIWASACGALGLVFSPNEEITKIYQMTTNG
  SNKLEVEDEQVCCEALEVMTLCFALLPTALDALSKEKAWQTFIIDLLLHCPSKTVRQLAQEQFFLMCTRCCMGHR
  PLLFFITLLFTILGSTAREKGKYSGDYFTLLRHLLNYAYNGNINIPNAEVLLVSEIDWLKRIRDNVKNTGETGVE
  EPILEGHLGVTKELLAFQTSEKKYHFGCEKGGANLIKELIDDFIFPASKVYLQYLRSGELPAEQAIPVCSSPVTI
  NAGFELLVALAIGCVRNLKQIVDCLTEMYYMGTAITTCEALTEWEYLPPVGPRPPKGFVGLKNAGATCYMNSVIQ
  QLYMIPSIRNSILAIEGTGSDLHDDMFGDEKQDSESNVDPRDDVFGYPHQFEDKPALSKTEDRKEYNIGVLRHLQ
  VIFGHLAASQLQYYVPRGFWKQFRLWGEPVNLREQHDALEFFNSLVDSLDEALKALGHPAILSKVLGGSFADQKI
  CQGCPHRYECEESFTTLNVDIRNHQNLLDSLEQYIKGDLLEGANAYHCEKCDKKVDTVKRLLIKKLPRVLAIQLK
  RFDYDWERECAIKFNDYFEFPRELDMGPYTVAGVANLERDNVNSENELIEQKEQSDNETAGGTKYRLVGVLVHSG
  QASGGHYYSYIIQRNGKDDQTDHWYKFDDGDVTECKMDDDEEMKNQCFGGEYMGEVFDHMMKRMSYRRQKRWWNA
  YILFYEQMDMIDEDDEMIRYISELTIARPHQIIMSPAIERSVRKQNVKFMHNRLQYSLEYFQFVKKLLTCNGVYL
  NPAPGQDYLLPEAEEITMISIQLAARFLFTTGFHTKKIVRGPASDWYDALCVLLRHSKNVRFWFTHNVLFNVSNR
  FSEYLLECPSAEVRGAFAKLIVFIAHFSLQDGSCPSPFASPGPSSQACDNLSLSDHLLRATLNLLRREVSEHGHH
  LQQYFNLFVMYANLGVAEKTQLLKLNVPATFMLVSLDEGPGPPIKYQYAELGKLYSVVSQLIRCCNVSSTMQSSI
  NGNPPLPNPFGDLNLSQPIMPIQQNVLDILFVRTSYVKKIIEDCSNSEDTIKLLRFCSWENPQFSSTVLSELLWQ
  VAYSYTYELRPYLDLLFQILLIEDSWQTHRIHNALKGIPDDRDGLFDTIQRSKNHYQKRAYQCIKCMVALFSSCP
  VAYQILQGNGDLKRKWTWAVEWLGDELERRPYTGNPQYSYNNWSPPVQSNETANGYFLERSHSARMTLAKACELC
  PEEEPDDQDAPDEHEPSPSEDAPLYPHSPASQYQQNNHVHGQPYTGPAAHHLNNPQKTGQRTQENYEGNEEVSSP
  QMKDQ

• Structural information:
  • Protein Domains: (1559..195-)
    (/note="USP"-)
  • Interpro: IPR016024  IPR038765  IPR001394  IPR018200  IPR028889  
  • Prosite: PS00972 PS00973 PS50235
• Other Databases: GeneCards:  USP9Y  Malacards:  USP9Y

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004843	thiol-dependent ubiquitin-specific protease activity	TAS	molecular function
GO:0005737	cytoplasm	ISS	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	ISS	biological process
GO:0007283	spermatogenesis	TAS	biological process
GO:0008234	cysteine-type peptidase activity	TAS	molecular function
GO:0016477	cell migration	IBA	biological process
GO:0016579	protein deubiquitination	ISS	biological process
GO:0030509	BMP signaling pathway	ISS	biological process
GO:0070410	co-SMAD binding	ISS	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	TAS	molecular function
GO:0005737	cytoplasm	ISS	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	ISS	biological process
GO:0007283	spermatogenesis	TAS	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0008234	cysteine-type peptidase activity	TAS	molecular function
GO:0016477	cell migration	IBA	biological process
GO:0016579	protein deubiquitination	IEA	biological process
GO:0016579	protein deubiquitination	ISS	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0030509	BMP signaling pathway	ISS	biological process
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0070410	co-SMAD binding	ISS	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	TAS	molecular function
GO:0005737	cytoplasm	ISS	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0007179	transforming growth factor beta receptor signaling pathway	ISS	biological process
GO:0007283	spermatogenesis	TAS	biological process
GO:0008234	cysteine-type peptidase activity	TAS	molecular function
GO:0016477	cell migration	IBA	biological process
GO:0016579	protein deubiquitination	ISS	biological process
GO:0030509	BMP signaling pathway	ISS	biological process
GO:0070410	co-SMAD binding	ISS	molecular function
GO:0004197	cysteine-type endopeptidase activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0016579	protein deubiquitination	IBA	biological process
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0016477	cell migration	IBA	biological process
GO:0030509	BMP signaling pathway	ISS	biological process
GO:0016579	protein deubiquitination	ISS	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	ISS	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0016579	protein deubiquitination	IEA	biological process
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0004843	thiol-dependent ubiquitin-specific protease activity	TAS	molecular function
GO:0007283	spermatogenesis	TAS	biological process
GO:0008234	cysteine-type peptidase activity	TAS	molecular function
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0070410	co-SMAD binding	ISS	molecular function
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Cystic fibrosis	MIK: 11869379
Patient sought infertility evaluation after his partner had a miscarriage	INFBASE: 19246359
Klinefelter syndrome	MIK: 16372123
Male factor infertility	MIK: 10581029
Male factor infertility	MIK: 16674553
Hypospermatogenesis	MIK: 16936303
Obstructive azoospermia	MIK: 10402373
Sertoli cell only syndrome (SCOS)	MIK: 16936303
Oligozoospermia	MIK: 18357961
Sertoli cell only syndrome (SCOS)	MIK: 10402373
Sertoli cell only syndrome (SCOS)	MIK: 10402373
Spermatogenesis defects	MIK: 10581029
Spermatogenesis defects	MIK: 11695273
Turners syndrome	MIK: 10424817
Hypospermatogenesis	MIK: 10402373
Azoospermia	MIK: 16936303
Spermatogenic failure	KEGG:H01282
Azoospermia	KEGG:H00890
Spermatogenic failure	KEGG:H01282
Azoospermia	KEGG:H00890
Associated with male germ cell development	MIK: 12895410
Azoospermia	MIK: 16936303
Spermatogenic failure	MIK: 10581029
Azoospermic patients with Klinefelter's syndrome	MIK: 16372123
Hypospermatogenesis	MIK: 28361989
Male infertility	MIK: 17296183
Sertoli cell-only syndrome	MIK: 10402373
Patient sought infertility evaluation after his partner had a miscarriage	MIK: 19246359
Spermatogenic failure	MIK: 11695273
Turners syndrome	MIK: 10424817

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
22537385	Infertile		Israel	699 were azoospermic, 319 severe azoospermic, 242 infertile with unreported semen quality. 1018 men had no palpable obstructive azoospermia nor were they carriers of two CFTR mutations or one mutation in combination with 5T polymorphism	Male infertility	DDX3Y deletions
19246359	Patient sought infertility evaluation after his partner had a miscarriage	Deletion at P*(xR1a) haplogroup, complete deletion of the USP9Y gene		Reduced sperm motility. A small percentage of sperms had abnormal morphological features	Male infertility
16893908	Infertility	Deletions in USP9Y gene. Patient 1: Hgr2 (Y*(xD,E,J,N,P)underived haplogroup, Patient 2: Hgr12 (hgr N) haplogroup.		995 infertile ( 2 detected with deletions in their USP9Y gene ), 350 non spermic men	Male infertility	DDX3Y
17296183	Infertility		Taiwane se Han	839(627 infertile men ( 224 had idiopathic mild to moderate oligospermia, 110 had idiopathic severe oligospermia, 23 had virtual azoospermia, 23 had virtual azoospermia), 212 fertile men)	Male infertility	FSH LH PRL T DDX3Y SMCY RBM1 DAZ
12895410	Associated with male germ cell development				Male infertility
12091794	Male infertility	Deletions in the AZF region			Male infertility	DBY in AZFa RBMY1 in AZFb and DAZ in AZFc
11097428	Infertility	Deletions and mutations in AZFa candidate genes			Male infertility	DBY
10767340	Infertility			173 infertile patients affected by idiopathic azoospermia or Oligozoospermia with sertoli cell-only syndrome (41) or severe or moderate hypospermatogenesis (132), Control: 100 fertile men, 30 azoospermic men with congenital or acquired obstruction of the	Male infertility	DBY
10581029	Azoospermic	A 4-bp deletion in a splice-donor site, causing an exon to be skipped and protein truncation, deletion of USP9Y deletion		576 infertile and 96 fertile men	Male infertility	DBY
19242544	Infertility	Microdeletions in AZF		390 patients, 790 controls	Male infertility	DAZ DBY UTY SRY
18357961	Idiopathic infertility	Microdeletions in AZF	Chinese	62 idiopathic infertile	Male infertility	RBM DAZ
16936303	Azoospermia	AZF microdeletions		89 azoospermia	Male infertility	DDX3Y/DDX3Yt1 EIF1AY and PRY
16372123	Azoospermic patients with Klinefelter's syndrome	Y- chromosome microdeletions		14 azoospermic patients, 13 fertile males	Male infertility	AZF a b
14751364	Azoospermic	Y chromosome gene deletions			Male infertility	DBY RBMY1 DAZ
10581029	Infertile	4-bp deletion in a splice-donor site of USP9Y		576 infertile and 96 fertile men	Male infertility	DBY
12009341	Infertile	Y chromosome gene deletions	Taiwane se	202 infertile, 100 fertile	Male infertility	DBY RBM1 DAZ CDY1 and BPY2
11869379	Azoospermic	Deletion in AZF region		23 IVF patients, 5 controls	Male infertility	DAZ RBMY1
11695273	Spermatogenic failure	AZFa deletions	Taiwane se	183 infertile, 120 fertile	Male infertility	AZFa
10507722	Infertility	Deletion of AZFaT1, DFFRY		3	Male infertility	AZFaT1 DBY
10424817	Turners syndrome	Deletion in most of the Yp and Yq region		2 patients with Turner syndrome	Male infertility
19246359	Infertility	Deletion of USP9Y		3 patient	Male infertility	DDX3Y
10581029	Azoospermia, Spernmatogenic failure	USP9Y: a 4-bp deletion in a splice-donor site, causing an exon to be skipped and protein truncation		672 (576 infertile men, 96 fertile men)	Male infertility	USP9Y
10402373	Male infertility, obstructive azoospermia, Sertoli cell-only syndrome, hypospermatogenesis			180 (50 patients with known causes of testicular alteration, 30 with obstructive azoospermia, 100 normal fertile men)	Male infertility	DFFRY
12895410	Associated with male germ cell development				Male infertility
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray