Gene Gene information from NCBI Gene database.
Entrez ID 8239
Gene name Ubiquitin specific peptidase 9 X-linked
Gene symbol USP9X
Synonyms (NCBI Gene)
DFFRXFAFFAF-XFAMMRX99MRXS99FXLID99hFAM
Chromosome X
Chromosome location Xp11.4
Summary 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
SNPs SNP information provided by dbSNP.
33
SNP ID Visualize variation Clinical significance Consequence
rs587777317 T>A Pathogenic Missense variant, coding sequence variant
rs587777318 A>- Pathogenic Frameshift variant, coding sequence variant
rs757903212 A>G Likely-pathogenic Missense variant, coding sequence variant
rs774054468 A>-,AA Uncertain-significance, not-provided, pathogenic Frameshift variant, coding sequence variant, intron variant
rs869025588 C>T Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
667
miRTarBase ID miRNA Experiments Reference
MIRT031499 hsa-miR-16-5p Proteomics 18668040
MIRT048997 hsa-miR-92a-3p CLASH 23622248
MIRT046739 hsa-miR-222-3p CLASH 23622248
MIRT045086 hsa-miR-186-5p CLASH 23622248
MIRT043839 hsa-miR-330-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
70
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II TAS
GO:0001764 Process Neuron migration IMP 24607389
GO:0004197 Function Cysteine-type endopeptidase activity ISS
GO:0004197 Function Cysteine-type endopeptidase activity TAS 9827704
GO:0004843 Function Cysteine-type deubiquitinase activity EXP 22371489, 26235645
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300072 12632 ENSG00000124486
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q93008
Protein name Ubiquitin carboxyl-terminal hydrolase 9X (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) (Ubiquitin-specific-
Protein function Deubiquitinase involved both in the processing of ubiquitin precursors and of ubiquitinated proteins (PubMed:18254724, PubMed:19135894, PubMed:22371489, PubMed:25944111, PubMed:29626158, PubMed:30914461, PubMed:37454738). May therefore play an i
PDB 5VBD , 5WCH , 7YXX , 7YXY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00443 UCH 1557 1953 Ubiquitin carboxyl-terminal hydrolase Family
PF12030 DUF3517 2097 2476 Domain of unknown function (DUF3517) Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed in embryonic and adult tissues. {ECO:0000269|PubMed:8922996}.
Sequence
MTATTRGSPVGGNDNQGQAPDGQSQPPLQQNQTSSPDSSNENSPATPPDEQGQGDAPPQL
EDEEPAFPHTDLAKLDDMINRPRWVVPVLPKGELEVLLEAAIDLSKKGLDVKSEACQRFF
RDGLTISFTKILTDEAVSGWKFEIHRCIINNTHRLVELCVAKLSQDWFPLLELLAMALNP
HCKFHIYNGTRPCESVSSSVQLPEDELFARSPDPRSPKGWLVDLLNKFGTLNGFQILHDR
FINGSALNVQIIAALIKPFGQCYEFLTLHTVKKYFLPIIEMVPQFLENLTDEELKKEAKN
EAKNDALSMIIKSLKNLASRVPGQEETVKNLEIFRLKMILRLLQISSFNGKMNALNEVNK
VISSVSYYTHRHGNPEEEEWLTAERMAEWIQQNNILSIVLRDSLHQPQYVEKLEKILRFV
IKEKALTLQDLDNIWAAQAGKHEAIVKNVHDLLAKLAWDFSPEQLDHLFDCFKASWTNAS
KKQREKLLELIRRLAEDDKDGVMAHKVLNLLWNLAHSDDVPVDIMDLALSAHIKILDYSC
SQDRDTQKIQWIDRFIEELRTNDKWVIPALKQIREICSLFGEAPQNLSQTQRSPHVFYRH
DLINQLQHNHALVTLVAENLATYMESMRLYARDHEDYDPQTVRLGSRYSHVQEVQERLNF
LRFLLKDGQLWLCAPQAKQIWKCLAENAVYLCDREACFKWYSKLMGDEPDLDPDINKDFF
ESNVLQLDPSLLTENGMKCFERFFKAVNCREGKLVAKRRAYMMDDLELIGLDYLWRVVIQ
SNDDIASRAIDLLKEIYTNLGPRLQVNQVVIHEDFIQSCFDRLKASYDTLCVLDGDKDSV
NCARQEAVRMVRVLTVLREYINECDSDYHEERTILPMSRAFRGKHLSFVVRFPNQGRQVD
DLEVWSHTNDTIGSVRRCILNRIKANVAHTKIELFVGGELIDPADDRKLIGQLNLKDKSL
ITAKLTQISSNMPSSPDSSSDSSTGSPGNHGNHYSDGPNPEVESCLPGVIMSLHPRYISF
LWQVADLGSSLNMPPLRDGARVLMKLMPPDSTTIEKLRAICLDHAKLGESSLSPSLDSLF
FGPSASQVLYLTEVVYALLMPAGAPLADDSSDFQFHFLKSGGLPLVLSMLTRNNFLPNAD
METRRGAYLNALKIAKLLLTAIGYGHVRAVAEACQPGVEGVNPMTQINQVTHDQAVVLQS
ALQSIPNPSSECMLRNVSVRLAQQISDEASRYMPDICVIRAIQKIIWASGCGSLQLVFSP
NEEITKIYEKTNAGNEPDLEDEQVCCEALEVMTLCFALIPTALDALSKEKAWQTFIIDLL
LHCHSKTVRQVAQEQFFLMCTRCCMGHRPLLFFITLLFTVLGSTARERAKHSGDYFTLLR
HLLNYAYNSNINVPNAEVLLNNEIDWLKRIRDDVKRTGETGIEETILEGHLGVTKELLAF
QTSEKKFHIGCEKGGANLIKELIDDFIFPASNVYLQYMRNGELPAEQAIPVCGSPPTINA
GFELLVALAVGCVRNLKQIVDSLTEMYYIGTAITTCEALTEWEYLPPVGPRPPKGFVGLK
NAGATCYMNSVIQQLYMIPSIRNGILAIEGTGSDVDDDMSGDEKQDNESNVDPRDDVFGY
PQQFEDKPALSKTEDRKEYNIGVLRHLQVIFGHLAASRLQYYVPRGFWKQFRLWGEPVNL
REQHDALEFFNSLVDSLDEALKALGHPAMLSKVLGGSFADQKICQGCPHRYECEESFTTL
NVDIRNHQNLLDSLEQYVKGDLLEGANAYHCEKCNKKVDTVKRLLIKKLPPVLAIQLKRF
DYDWERECAIKFNDYFEFPRELDMEPYTVAGVAKLEGDNVNPESQLIQQSEQSESETAGS
TKYRLVGVLVHSGQASGGHYYSYIIQRNGGDGERNRWYKFDDGDVTECKMDDDEEMKNQC
FGGEYMGEVFDHMMKRMSYRRQKRWWNAYILFY
ERMDTIDQDDELIRYISELAITTRPHQ
IIMPSAIERSVRKQNVQFMHNRMQYSMEYFQFMKKLLTCNGVYLNPPPGQDHLLPEAEEI
TMISIQLAARFLFTTGFHTKKVVRGSASDWYDALCILLRHSKNVRFWFAHNVLFNVSNRF
SEYLLECPSAEVRGAFAKLIVFIAHFSLQDGPCPSPFASPGPSSQAYDNLSLSDHLLRAV
LNLLRREVSEHGRHLQQYFNLFVMYANLGVAEKTQLLKLSVPATFMLVSLDEGPGPPIKY
QYAELGKLYSVVSQLIRCCNVSSRMQSSINGNPPLPNPFGDPNLSQPIMPIQQNVADILF
VRTSYVKKIIEDCSNSEETVKLLRFCCWENPQFSSTVLSELLWQVAYSYTYELRPYLDLL
LQILLIEDSWQTHRIHNALKGIPDDRDGLFDTIQRSKNHYQKRAYQCIKCMVALFSNCPV
AYQILQGNGDLKRKWTWAVEWLGDELERRPYTGNPQYTYNNWSPPVQSNETSNGYFLERS
HSARMTLAKACELCPE
EEPDDQDAPDEHESPPPEDAPLYPHSPGSQYQQNNHVHGQPYTG
PAAHHMNNPQRTGQRAQENYEGSEEVSPPQTKDQ
Sequence length 2554
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Downregulation of SMAD2/3:SMAD4 transcriptional activity
Ub-specific processing proteases
Synthesis of active ubiquitin: roles of E1 and E2 enzymes
Peroxisomal protein import
Amyloid fiber formation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
234
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual disability Pathogenic rs2062994512 RCV001030991
Intellectual disability, X-linked 99 Pathogenic; Likely pathogenic rs2062675453, rs2147163808, rs2147251154, rs587777317, rs587777318, rs2147171235, rs2519156202, rs2519371283, rs5918118, rs2519366750, rs1431284689, rs1057522024, rs1569165417, rs1601957478 RCV001337114
RCV001733820
RCV001804241
RCV000114949
RCV000114950
RCV002249199
RCV002280921
RCV002470000
RCV004786903
RCV003335805
RCV004555158
RCV001329531
RCV000760229
RCV001007953
Intellectual disability, X-linked 99, syndromic, female-restricted Pathogenic; Likely pathogenic rs2062209732, rs2147080766, rs2147118205, rs2147080697, rs2147230302, rs2147123290, rs2147262405, rs2147266578, rs2519213433, rs869025588, rs869025589, rs869025590, rs869025591, rs869025592, rs5918118
View all (13 more)
RCV001729975
RCV001733426
RCV001808064
RCV001823055
RCV001823056
RCV001823650
RCV002266125
RCV002272830
RCV002291193
RCV000208736
RCV000208717
RCV000208730
RCV000208740
RCV000208723
RCV003226054
RCV003226119
RCV003987486
RCV003391171
RCV003493301
RCV004555158
RCV003984839
RCV005004200
RCV000578171
RCV000578420
RCV000660495
RCV000760229
RCV001253520
RCV001264738
RCV001264724
Neurodevelopmental disorder Likely pathogenic rs2147006012 RCV001375035
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Uncertain significance rs2159559, rs146655331, rs868187117 RCV005914785
RCV005924424
RCV005930247
Cervical cancer Benign rs34297563, rs184935757 RCV005922195
RCV005906330
Cholangiocarcinoma Benign rs2159559, rs41298468 RCV005914788
RCV005917265
Developmental delay Conflicting classifications of pathogenicity rs754357906 RCV003154294
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 37289514
Abnormalities Multiple Associate 37289514
Adenocarcinoma Associate 29327707
Apraxias Associate 35227307
Axenfeld Rieger syndrome Associate 37895297
Brain Diseases Associate 24841553, 26833328
Breast Neoplasms Stimulate 28361952
Breast Neoplasms Associate 30689267, 31073027
Calcinosis Cutis Associate 32345963
Carcinogenesis Associate 28054945, 29721084