• Gene id: 8239

Gene Summary

• Gene Symbol: USP9X   Gene   UCSC   Ensembl
• Aliases: DFFRX, FAF, FAM, MRX99, MRXS99F
• Gene name: ubiquitin specific peptidase 9 X-linked
• Alternate names: probable ubiquitin carboxyl-terminal hydrolase FAF-X, Drosophila fat facets related, X-linked, deubiquitinating enzyme FAF-X, fat facets in mammals, fat facets protein related, X-linked, hFAM, ubiquitin specific protease 9, X chromosome (fat facets-like Drosoph,
• Gene location: Xp11.4 (41085419: 41236578)     Exons: 45     NC_000023.11
• Gene summary(Entrez): This gene is a member of the peptidase C19 family and encodes a protein that is similar to ubiquitin-specific proteases. Though this gene is located on the X chromosome, it escapes X-inactivation. Mutations in this gene have been associated with Turner sy
• OMIM: 300072

Protein Summary

• Protein general information: Q93008  
  • Name: Probable ubiquitin carboxyl terminal hydrolase FAF X (EC 3.4.19.12) (Deubiquitinating enzyme FAF X) (Fat facets in mammals) (hFAM) (Fat facets protein related, X linked) (Ubiquitin thioesterase FAF X) (Ubiquitin specific protease 9, X chromosome) (Ubiquit
  • Length: 2570  
  • Mass: 292280
  • Tissue specificity: Widely expressed in embryonic and adult tissues.
• Sequence:

  MTATTRGSPVGGNDNQGQAPDGQSQPPLQQNQTSSPDSSNENSPATPPDEQGQGDAPPQLEDEEPAFPHTDLAKL
  DDMINRPRWVVPVLPKGELEVLLEAAIDLSKKGLDVKSEACQRFFRDGLTISFTKILTDEAVSGWKFEIHRCIIN
  NTHRLVELCVAKLSQDWFPLLELLAMALNPHCKFHIYNGTRPCESVSSSVQLPEDELFARSPDPRSPKGWLVDLL
  NKFGTLNGFQILHDRFINGSALNVQIIAALIKPFGQCYEFLTLHTVKKYFLPIIEMVPQFLENLTDEELKKEAKN
  EAKNDALSMIIKSLKNLASRVPGQEETVKNLEIFRLKMILRLLQISSFNGKMNALNEVNKVISSVSYYTHRHGNP
  EEEEWLTAERMAEWIQQNNILSIVLRDSLHQPQYVEKLEKILRFVIKEKALTLQDLDNIWAAQAGKHEAIVKNVH
  DLLAKLAWDFSPEQLDHLFDCFKASWTNASKKQREKLLELIRRLAEDDKDGVMAHKVLNLLWNLAHSDDVPVDIM
  DLALSAHIKILDYSCSQDRDTQKIQWIDRFIEELRTNDKWVIPALKQIREICSLFGEAPQNLSQTQRSPHVFYRH
  DLINQLQHNHALVTLVAENLATYMESMRLYARDHEDYDPQTVRLGSRYSHVQEVQERLNFLRFLLKDGQLWLCAP
  QAKQIWKCLAENAVYLCDREACFKWYSKLMGDEPDLDPDINKDFFESNVLQLDPSLLTENGMKCFERFFKAVNCR
  EGKLVAKRRAYMMDDLELIGLDYLWRVVIQSNDDIASRAIDLLKEIYTNLGPRLQVNQVVIHEDFIQSCFDRLKA
  SYDTLCVLDGDKDSVNCARQEAVRMVRVLTVLREYINECDSDYHEERTILPMSRAFRGKHLSFVVRFPNQGRQVD
  DLEVWSHTNDTIGSVRRCILNRIKANVAHTKIELFVGGELIDPADDRKLIGQLNLKDKSLITAKLTQISSNMPSS
  PDSSSDSSTGSPGNHGNHYSDGPNPEVESCLPGVIMSLHPRYISFLWQVADLGSSLNMPPLRDGARVLMKLMPPD
  STTIEKLRAICLDHAKLGESSLSPSLDSLFFGPSASQVLYLTEVVYALLMPAGAPLADDSSDFQFHFLKSGGLPL
  VLSMLTRNNFLPNADMETRRGAYLNALKIAKLLLTAIGYGHVRAVAEACQPGVEGVNPMTQINQVTHDQAVVLQS
  ALQSIPNPSSECMLRNVSVRLAQQISDEASRYMPDICVIRAIQKIIWASGCGSLQLVFSPNEEITKIYEKTNAGN
  EPDLEDEQVCCEALEVMTLCFALIPTALDALSKEKAWQTFIIDLLLHCHSKTVRQVAQEQFFLMCTRCCMGHRPL
  LFFITLLFTVLGSTARERAKHSGDYFTLLRHLLNYAYNSNINVPNAEVLLNNEIDWLKRIRDDVKRTGETGIEET
  ILEGHLGVTKELLAFQTSEKKFHIGCEKGGANLIKELIDDFIFPASNVYLQYMRNGELPAEQAIPVCGSPPTINA
  GFELLVALAVGCVRNLKQIVDSLTEMYYIGTAITTCEALTEWEYLPPVGPRPPKGFVGLKNAGATCYMNSVIQQL
  YMIPSIRNGILAIEGTGSDVDDDMSGDEKQDNESNVDPRDDVFGYPQQFEDKPALSKTEDRKEYNIGVLRHLQVI
  FGHLAASRLQYYVPRGFWKQFRLWGEPVNLREQHDALEFFNSLVDSLDEALKALGHPAMLSKVLGGSFADQKICQ
  GCPHRYECEESFTTLNVDIRNHQNLLDSLEQYVKGDLLEGANAYHCEKCNKKVDTVKRLLIKKLPPVLAIQLKRF
  DYDWERECAIKFNDYFEFPRELDMEPYTVAGVAKLEGDNVNPESQLIQQSEQSESETAGSTKYRLVGVLVHSGQA
  SGGHYYSYIIQRNGGDGERNRWYKFDDGDVTECKMDDDEEMKNQCFGGEYMGEVFDHMMKRMSYRRQKRWWNAYI
  LFYERMDTIDQDDELIRYISELAITTRPHQIIMPSAIERSVRKQNVQFMHNRMQYSMEYFQFMKKLLTCNGVYLN
  PPPGQDHLLPEAEEITMISIQLAARFLFTTGFHTKKVVRGSASDWYDALCILLRHSKNVRFWFAHNVLFNVSNRF
  SEYLLECPSAEVRGAFAKLIVFIAHFSLQDGPCPSPFASPGPSSQAYDNLSLSDHLLRAVLNLLRREVSEHGRHL
  QQYFNLFVMYANLGVAEKTQLLKLSVPATFMLVSLDEGPGPPIKYQYAELGKLYSVVSQLIRCCNVSSRMQSSIN
  GNPPLPNPFGDPNLSQPIMPIQQNVADILFVRTSYVKKIIEDCSNSEETVKLLRFCCWENPQFSSTVLSELLWQV
  AYSYTYELRPYLDLLLQILLIEDSWQTHRIHNALKGIPDDRDGLFDTIQRSKNHYQKRAYQCIKCMVALFSNCPV
  AYQILQGNGDLKRKWTWAVEWLGDELERRPYTGNPQYTYNNWSPPVQSNETSNGYFLERSHSARMTLAKACELCP
  EEVKKATSVQQIEMEESKEPDDQDAPDEHESPPPEDAPLYPHSPGSQYQQNNHVHGQPYTGPAAHHMNNPQRTGQ
  RAQENYEGSEEVSPPQTKDQ

• Structural information:
  • Protein Domains: (1557..195-)
    (/note="USP"-)
  • Interpro: IPR016024  IPR038765  IPR001394  IPR018200  IPR028889  
  • Prosite: PS00972 PS00973 PS50235
  • PDB: 5VBD 5WCH
  • PDBsum: 5VBD 5WCH
  • DIP: 27562
  • STRING: ENSP00000316357
• Other Databases: GeneCards:  USP9X  Malacards:  USP9X

Gene ontology

GO accession	Term name	Evidence code	Go category
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:0004197	cysteine-type endopeptidase activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0016579	protein deubiquitination	IBA	biological process
GO:0030426	growth cone	IDA	cellular component
GO:1901537	positive regulation of DNA demethylation	IDA	biological process
GO:1990380	Lys48-specific deubiquitinase activity	IDA	molecular function
GO:0001764	neuron migration	IMP	biological process
GO:0048675	axon extension	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0042752	regulation of circadian rhythm	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0071947	protein deubiquitination involved in ubiquitin-dependent protein catabolic process	IMP	biological process
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:0006508	proteolysis	IEA	biological process
GO:0048511	rhythmic process	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0051301	cell division	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0007059	chromosome segregation	IEA	biological process
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0007049	cell cycle	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0004197	cysteine-type endopeptidase activity	TAS	molecular function
GO:0008234	cysteine-type peptidase activity	TAS	molecular function
GO:0007292	female gamete generation	TAS	biological process
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	EXP	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	TAS	biological process
GO:0008234	cysteine-type peptidase activity	TAS	molecular function
GO:0016567	protein ubiquitination	TAS	biological process
GO:0016579	protein deubiquitination	TAS	biological process
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	TAS	molecular function
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006625	protein targeting to peroxisome	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070410	co-SMAD binding	IPI	molecular function
GO:0030426	growth cone	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0071108	protein K48-linked deubiquitination	IEA	biological process
GO:0030509	BMP signaling pathway	IDA	biological process
GO:0016579	protein deubiquitination	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016579	protein deubiquitination	ISS	biological process
GO:0101005	ubiquitinyl hydrolase activity	ISS	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0007179	transforming growth factor beta receptor signaling pathway	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0050821	protein stabilization	IMP	biological process

Diseases

Associated diseases	References
X-linked mental retardation	KEGG:H00480
X-linked mental retardation	KEGG:H00480
Spermatogenesis defects	MIK: 28559472
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28559472	Spermatogenesis defects				Male infertility