InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: USP9X

Summary

InnateDB Protein

IDBP-57115.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

USP9X

Protein Name

ubiquitin specific peptidase 9, X-linked

Synonyms

DFFRX; FAF; FAM; MRX99;

Species

Homo sapiens

Ensembl Protein

ENSP00000367558

InnateDB Gene

IDBG-57113 (USP9X)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:16322459, ECO:0000269PubMed:18254724, ECO:0000269PubMed:19135894, ECO:0000269PubMed:24607389}.

Subcellular Localization

Cytoplasm. Cell projection, growth cone.

Disease Associations

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:0000269PubMed:24607389}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed in embryonic and adult tissues.

Comments

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: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:0010467	gene expression
GO:0016579	protein deubiquitination
GO:0030509	BMP signaling pathway
GO:0048675	axon extension

Cellular Component

GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0016020	membrane
GO:0030426	growth cone

Protein Structure and Domains

PDB ID

InterPro

IPR001394 Peptidase C19, ubiquitin carboxyl-terminal hydrolase
IPR016024 Armadillo-type fold
IPR028889 Ubiquitin carboxyl-terminal hydrolase-like domain
IPR029071 Ubiquitin-related domain

PFAM

PF00443

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q93008

PhosphoSite