Homo sapiens Gene: USP9X
Summary
InnateDB Gene IDBG-57113.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol USP9X
Gene Name ubiquitin specific peptidase 9, X-linked
Synonyms DFFRX; FAF; FAM; MRX99
Species Homo sapiens
Ensembl Gene ENSG00000124486
Encoded Proteins
ubiquitin specific peptidase 9, X-linked
ubiquitin specific peptidase 9, X-linked
ubiquitin specific peptidase 9, X-linked
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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 syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome X:41085635-41236579
Strand Forward strand
Band p11.4
Transcripts
ENST00000378308 ENSP00000367558
ENST00000324545 ENSP00000316357
ENST00000467173
ENST00000465386
ENST00000463829
ENST00000462850 ENSP00000420570
ENST00000487625
ENST00000485180
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 128 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated
Total 128 [view]
Protein-Protein 128 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 4 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004197 cysteine-type endopeptidase activity
GO:0004221 ubiquitin thiolesterase activity
GO:0005488 binding
GO:0005515 protein binding
GO:0008234 cysteine-type peptidase activity
GO:0036459 ubiquitinyl hydrolase activity
GO:0070410 co-SMAD binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001701 in utero embryonic development
GO:0001764 neuron migration
GO:0006351 transcription, DNA-templated
GO:0006367 transcription initiation from RNA polymerase II promoter
GO:0006511 ubiquitin-dependent protein catabolic process
GO:0007059 chromosome segregation
GO:0007067 mitotic nuclear division
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007292 female gamete generation
GO:0009791 post-embryonic development
GO:0010467 gene expression
GO:0016579 protein deubiquitination
GO:0021698 cerebellar cortex structural organization
GO:0021766 hippocampus development
GO:0030509 BMP signaling pathway
GO:0048675 axon extension
GO:0071560 cellular response to transforming growth factor beta stimulus
GO:1990138 neuron projection extension
Cellular Component
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016020 membrane
GO:0030426 growth cone
GO:0045177 apical part of cell
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Downregulation of SMAD2/3:SMAD4 transcriptional activity pathway
Generic Transcription Pathway pathway
SMAD4 MH2 Domain Mutants in Cancer pathway
Loss of Function of SMAD4 in Cancer pathway
Loss of Function of SMAD2/3 in Cancer pathway
Signaling by TGF-beta Receptor Complex in Cancer pathway
TGFBR2 MSI Frameshift Mutants in Cancer pathway
Signal Transduction pathway
Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer pathway
SMAD2/3 MH2 Domain Mutants in Cancer pathway
Loss of Function of TGFBR2 in Cancer pathway
SMAD2/3 Phosphorylation Motif Mutants in Cancer pathway
TGFBR1 KD Mutants in Cancer pathway
Loss of Function of TGFBR1 in Cancer pathway
TGFBR1 LBD Mutants in Cancer pathway
TGFBR2 Kinase Domain Mutants in Cancer pathway
Gene Expression pathway
Disease pathway
Signaling by TGF-beta Receptor Complex pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.595373 Hs.77578
RefSeq NM_001039590 NM_001039591 XM_005272675 XM_005272676
HUGO
OMIM
CCDS CCDS43930 CCDS55403
HPRD 02091
IMGT
EMBL
GenPept
RNA Seq Atlas