Free for academic non-profit institutions. Other users need a Commercial license

Aliases for USP9X Gene

Aliases for USP9X Gene

  • Ubiquitin Specific Peptidase 9, X-Linked 2 3
  • Ubiquitin Specific Protease 9, X Chromosome (Fat Facets-Like Drosophila) 2 3
  • Ubiquitin-Specific-Processing Protease FAF-X 3 4
  • Ubiquitin-Specific Protease 9, X Chromosome 3 4
  • Fat Facets Protein-Related, X-Linked 3 4
  • Deubiquitinating Enzyme FAF-X 3 4
  • Ubiquitin Thioesterase FAF-X 3 4
  • Fat Facets In Mammals 3 4
  • DFFRX 3 4
  • HFAM 3 4
  • FAM 3 4
  • Ubiquitin Specific Peptidase 9, X-Linked (Fat Facets-Like, Drosophila) 2
  • Ubiquitin Specific Protease 9, X-Linked (Fat Facets-Like, Drosophila) 2
  • Ubiquitin-Specific Processing Protease FAF-X 3
  • Drosophila Fat Facets Related, X-Linked 3
  • Fat Facets Protein Related, X-Linked 3
  • Ubiquitin Thiolesterase FAF-X 3
  • EC 3.4.19.12 4
  • EC 3.1.2.15 63
  • MRX99 3
  • USP9 4
  • FAF 3

External Ids for USP9X Gene

Previous GeneCards Identifiers for USP9X Gene

  • GC0XP039009
  • GC0XP039231
  • GC0XP039827
  • GC0XP040013
  • GC0XP040739
  • GC0XP040829
  • GC0XP040944
  • GC0XP038676

Summaries for USP9X Gene

Entrez Gene Summary for USP9X Gene

  • 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 syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

GeneCards Summary for USP9X Gene

USP9X (Ubiquitin Specific Peptidase 9, X-Linked) is a Protein Coding gene. Diseases associated with USP9X include mental retardation, x-linked 99 and non-syndromic x-linked intellectual disability. Among its related pathways are Signaling by GPCR and Cytoskeletal Signaling. GO annotations related to this gene include binding and cysteine-type peptidase activity. An important paralog of this gene is USP41.

UniProtKB/Swiss-Prot for USP9X Gene

  • Deubiquitinase 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. Regulates chromosome alignment and segregation in mitosis by regulating the localization of BIRC5/survivin to mitotic centromeres. Specifically hydrolyzes both Lys-29- and Lys-33-linked polyubiquitins chains. Specifically deubiquitinates monoubiquitinated SMAD4, opposing the activity of E3 ubiquitin-protein ligase TRIM33. Involved in axonal growth and neuronal cell migration.

Gene Wiki entry for USP9X Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for USP9X Gene

Genomics for USP9X Gene

Regulatory Elements for USP9X Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for USP9X Gene

Chromosome:
X
Start:
41,085,433 bp from pter
End:
41,236,579 bp from pter
Size:
151,147 bases
Orientation:
Plus strand

Genomic View for USP9X Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for USP9X Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for USP9X Gene

Proteins for USP9X Gene

  • Protein details for USP9X Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q93008-USP9X_HUMAN
    Recommended name:
    Probable ubiquitin carboxyl-terminal hydrolase FAF-X
    Protein Accession:
    Q93008
    Secondary Accessions:
    • O75550
    • Q8WWT3
    • Q8WX12

    Protein attributes for USP9X Gene

    Size:
    2570 amino acids
    Molecular mass:
    292280 Da
    Quaternary structure:
    • Interacts with SMAD4, MARK4, NUAK1 and BIRC5/survivin. Interacts with DCX.
    Miscellaneous:
    • Escapes X-inactivation
    SequenceCaution:
    • Sequence=CAD13527.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAD18900.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for USP9X Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for USP9X Gene

Proteomics data for USP9X Gene at MOPED

Post-translational modifications for USP9X Gene

  • Ubiquitination at Lys 329, Lys 1045, Lys 1370, Lys 1627, Lys 1632, Lys 1712, Lys 1798, Lys 1862, and Lys 2301
  • Modification sites at PhosphoSitePlus

Other Protein References for USP9X Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for USP9X (USP9X)

Domains & Families for USP9X Gene

Protein Domains for USP9X Gene

Graphical View of Domain Structure for InterPro Entry

Q93008

UniProtKB/Swiss-Prot:

USP9X_HUMAN :
  • Contains 1 USP domain.
  • Belongs to the peptidase C19 family.
Domain:
  • Contains 1 USP domain.
Family:
  • Belongs to the peptidase C19 family.
genes like me logo Genes that share domains with USP9X: view

Function for USP9X Gene

Molecular function for USP9X Gene

GENATLAS Biochemistry:
ubiquitin specific protease 9,X chromosome,Drosophila developmental gene fat facets related on the X,Dres14 mouse homolog,ubiquitously expressed at low levels in embryo,escaping inactivation,widely expressed,deubiquitin enzyme family
UniProtKB/Swiss-Prot CatalyticActivity:
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)
UniProtKB/Swiss-Prot Function:
Deubiquitinase 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. Regulates chromosome alignment and segregation in mitosis by regulating the localization of BIRC5/survivin to mitotic centromeres. Specifically hydrolyzes both Lys-29- and Lys-33-linked polyubiquitins chains. Specifically deubiquitinates monoubiquitinated SMAD4, opposing the activity of E3 ubiquitin-protein ligase TRIM33. Involved in axonal growth and neuronal cell migration.

Enzyme Numbers (IUBMB) for USP9X Gene

Gene Ontology (GO) - Molecular Function for USP9X Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004197 cysteine-type endopeptidase activity TAS 9827704
GO:0004843 ubiquitin-specific protease activity TAS --
GO:0005488 binding --
GO:0005515 protein binding IPI 16322459
GO:0008234 cysteine-type peptidase activity TAS 8922996
genes like me logo Genes that share ontologies with USP9X: view
genes like me logo Genes that share phenotypes with USP9X: view

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for USP9X

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for USP9X Gene

Localization for USP9X Gene

Subcellular locations from UniProtKB/Swiss-Prot for USP9X Gene

Cytoplasm. Cell projection, growth cone.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for USP9X Gene COMPARTMENTS Subcellular localization image for USP9X gene
Compartment Confidence
cytosol 4

Gene Ontology (GO) - Cellular Components for USP9X Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 19135894
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA 19946888
GO:0030426 growth cone IDA 24607389
GO:0045177 apical part of cell IEA --
genes like me logo Genes that share ontologies with USP9X: view

Pathways & Interactions for USP9X Gene

genes like me logo Genes that share pathways with USP9X: view

Pathways by source for USP9X Gene

SIGNOR curated interactions for USP9X Gene

Activates:

Gene Ontology (GO) - Biological Process for USP9X Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter TAS --
GO:0001701 in utero embryonic development IEA --
GO:0001764 neuron migration IMP 24607389
GO:0006351 transcription, DNA-templated TAS --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
genes like me logo Genes that share ontologies with USP9X: view

Drugs & Compounds for USP9X Gene

(1) Drugs for USP9X Gene - From: ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
WP1130 Pharma Deubiquitinase (DUB) inhibitor, Cell permeable 0

(1) Additional Compounds for USP9X Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with USP9X: view

Transcripts for USP9X Gene

Unigene Clusters for USP9X Gene

Ubiquitin specific peptidase 9, X-linked:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for USP9X

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for USP9X Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6: -
SP7:
SP8:
SP9: -
SP10:
SP11: -
SP12:
SP13:

ExUns: 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25a · 25b ^ 26a · 26b · 26c ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33a · 33b ^ 34 ^ 35 ^ 36 ^ 37a · 37b ^ 38 ^
SP1: - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: -
SP11:
SP12:
SP13:

ExUns: 39a · 39b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for USP9X Gene

GeneLoc Exon Structure for
USP9X
ECgene alternative splicing isoforms for
USP9X

Expression for USP9X Gene

mRNA expression in normal human tissues for USP9X Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for USP9X Gene

This gene is overexpressed in Bone (16.1) and Peripheral blood mononuclear cells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for USP9X Gene



SOURCE GeneReport for Unigene cluster for USP9X Gene Hs.77578

mRNA Expression by UniProt/SwissProt for USP9X Gene

Q93008-USP9X_HUMAN
Tissue specificity: Widely expressed in embryonic and adult tissues
genes like me logo Genes that share expression patterns with USP9X: view

Protein tissue co-expression partners for USP9X Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for USP9X Gene

Orthologs for USP9X Gene

This gene was present in the common ancestor of animals.

Orthologs for USP9X Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia USP9X 35
  • 94.4 (n)
  • 98.83 (a)
USP9Y 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Usp9x 35
  • 92.85 (n)
  • 98.47 (a)
Usp9x 16
Usp9x 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia USP9X 35
  • 98.96 (n)
  • 98.75 (a)
rat
(Rattus norvegicus)
Mammalia Usp9x 35
  • 92.9 (n)
  • 98.67 (a)
dog
(Canis familiaris)
Mammalia -- 36
  • 99 (a)
OneToMany
-- 36
  • 99 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 96 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 95 (a)
OneToMany
chicken
(Gallus gallus)
Aves USP9X 35
  • 85.94 (n)
  • 95.45 (a)
-- 36
  • 95 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 95 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.19925 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.4490 35
zebrafish
(Danio rerio)
Actinopterygii usp9 35
  • 76.27 (n)
  • 90.27 (a)
usp9 36
  • 89 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10083 35
fruit fly
(Drosophila melanogaster)
Insecta faf 37
  • 47 (a)
faf 35
  • 53.8 (n)
  • 51.01 (a)
faf 36
  • 45 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010088 35
  • 41.3 (n)
  • 30.18 (a)
worm
(Caenorhabditis elegans)
Secernentea F37B12.4 37
  • 30 (a)
T24B8.7 36
  • 15 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13972 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5270 36
  • 56 (a)
OneToMany
Species with no ortholog for USP9X:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for USP9X Gene

ENSEMBL:
Gene Tree for USP9X (if available)
TreeFam:
Gene Tree for USP9X (if available)

Paralogs for USP9X Gene

Paralogs for USP9X Gene

(2) SIMAP similar genes for USP9X Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with USP9X: view

Variants for USP9X Gene

Sequence variations from dbSNP and Humsavar for USP9X Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs2773 -- 41,233,595(-) AGTAC(C/T)GTGGG utr-variant-3-prime
rs2774 -- 41,233,619(-) ATCTT(G/T)GGTGC utr-variant-3-prime
rs6532 -- 41,196,681(+) ATTAA(C/T)GTACC synonymous-codon, reference
rs10463 -- 41,232,688(+) AATAT(A/G)TAACC utr-variant-3-prime
rs727205 -- 41,102,049(-) gatta(C/T)ttttt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for USP9X Gene

Variant ID Type Subtype PubMed ID
esv33720 CNV Loss 17666407
esv2675527 CNV Deletion 23128226
dgv512n21 CNV Gain 19592680
esv2740110 CNV Deletion 23290073
esv2740111 CNV Deletion 23290073
esv2740112 CNV Deletion 23290073
nsv6874 CNV Insertion 18451855

Variation tolerance for USP9X Gene

Residual Variation Intolerance Score: .3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.08; 21.99% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for USP9X Gene

HapMap Linkage Disequilibrium report
USP9X
Human Gene Mutation Database (HGMD)
USP9X

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for USP9X Gene

Disorders for USP9X Gene

MalaCards: The human disease database

(2) MalaCards diseases for USP9X Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association
Search USP9X in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

USP9X_HUMAN
  • Mental retardation, X-linked 99 (MRX99) [MIM:300919]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. {ECO:0000269 PubMed:24607389}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for USP9X

Genetic Association Database (GAD)
USP9X
Human Genome Epidemiology (HuGE) Navigator
USP9X
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
USP9X
genes like me logo Genes that share disorders with USP9X: view

No data available for Genatlas for USP9X Gene

Publications for USP9X Gene

  1. The ubiquitin E3 ligase MARCH7 is differentially regulated by the deubiquitylating enzymes USP7 and USP9X. (PMID: 18410486) Nathan J.A. … Lehner P.J. (Traffic 2008) 23 67
  2. Sexually dimorphic expression of Usp9x is related to sex chromosome complement in adult mouse brain. (PMID: 15978012) Xu J. … Arnold A.P. (Eur. J. Neurosci. 2005) 23 67
  3. Usp9y (ubiquitin-specific protease 9 gene on the Y) is associated with a functional promoter and encodes an intact open reading frame homologous to Usp9x that is under selective constraint. (PMID: 12925892) Hall N.M. … Affara N.A. (Mamm. Genome 2003) 23 67
  4. The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2. (PMID: 8922996) Jones M.H. … Affara N.A. (Hum. Mol. Genet. 1996) 2 67
  5. Control of a neuronal morphology program by an RNA-binding zinc finger protein, Unkempt. (PMID: 25737280) Murn J. … Shi Y. (Genes Dev. 2015) 67

Products for USP9X Gene

Sources for USP9X Gene

Back to Top

Content