USP9X

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USP9X
Identifiers
Aliases USP9X, DFFRX, FAF, FAM, MRX99, MRXS99F, ubiquitin specific peptidase 9, X-linked
External IDs MGI: 894681 HomoloGene: 3418 GeneCards: 8239
RNA expression pattern
PBB GE USP9X 201099 at tn.png

PBB GE USP9X 201100 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001039590
NM_001039591
NM_004652
NM_021906

NM_009481

RefSeq (protein)

NP_001034679.2
NP_001034680.2

NP_033507.2

Location (UCSC) Chr X: 41.09 – 41.24 Mb Chr X: 13.07 – 13.17 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Probable ubiquitin carboxyl-terminal hydrolase FAF-X is an enzyme that in humans is encoded by the USP9X gene.[1][2]

Function[edit]

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.

Depletion of USP9X from two-cell mouse embryos halts blastocyst development and results in slower blastomere cleavage rate, impaired cell adhesion and a loss of cell polarity. It has also been implicated that USP9X is likely to influence developmental processes through signaling pathways of Notch, Wnt, EGF, and mTOR. USP9X has been recognized in studies of mouse and human stem cells involving embryonic, neural and hematopoietic stem cells.[3] High expression is retained in undifferentiated progenitor and stem cells and decreases as differentiation continues. USP9X is a protein-coding gene that has been implicated either directly through mutations or indirectly in a number of neurodevelopmental and neurodegenerative disorders. Three mutations have been connected with X-linked intellectual disability and disrupt neuronal growth and cell migration. Neurodegenerative disorders, such as Alzheimer’s, Parkinson’s and Huntington’s disease, have also been linked to USP9X. Scientists have generated a knockout model where they isolated hippocampal neurons from an USP9X-knockout male mouse, which showed a 43% reduction in axonal length and aborization compared to wildtype.[4]

Interactions[edit]

USP9X has been shown to interact with:

References[edit]

  1. ^ Jones MH, Furlong RA, Burkin H, Chalmers IJ, Brown GM, Khwaja O, Affara NA (Mar 1997). "The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2". Hum. Mol. Genet. 5 (11): 1695–701. doi:10.1093/hmg/5.11.1695. PMID 8922996.  Check date values in: |year= / |date= mismatch (help)
  2. ^ "Entrez Gene: USP9X ubiquitin specific peptidase 9, X-linked". 
  3. ^ Murtaza, Mariyam; Jolly, Lachlan A.; Gecz, Jozef; Wood, Stephen A. (2015-01-01). "La FAM fatale: USP9X in development and disease". Cellular and Molecular Life Sciences 72 (11): 2075–2089. doi:10.1007/s00018-015-1851-0. ISSN 1420-682X. PMC 4427618. PMID 25672900. 
  4. ^ "OMIM Entry - * 300072 - UBIQUITIN-SPECIFIC PROTEASE 9, X-LINKED; USP9X". www.omim.org. Retrieved 2016-04-12. 
  5. ^ a b Taya S, Yamamoto T, Kanai-Azuma M, Wood SA, Kaibuchi K (Dec 1999). "The deubiquitinating enzyme Fam interacts with and stabilizes beta-catenin". Genes Cells 4 (12): 757–67. doi:10.1046/j.1365-2443.1999.00297.x. PMID 10620020. 
  6. ^ a b Al-Hakim AK, Zagorska A, Chapman L, Deak M, Peggie M, Alessi DR (Apr 2008). "Control of AMPK-related kinases by USP9X and atypical Lys(29)/Lys(33)-linked polyubiquitin chains". Biochem. J. 411 (2): 249–60. doi:10.1042/BJ20080067. PMID 18254724. 
  7. ^ Taya S, Yamamoto T, Kano K, Kawano Y, Iwamatsu A, Tsuchiya T, Tanaka K, Kanai-Azuma M, Wood SA, Mattick JS, Kaibuchi K (Aug 1998). "The Ras target AF-6 is a substrate of the fam deubiquitinating enzyme". J. Cell Biol. 142 (4): 1053–62. doi:10.1083/jcb.142.4.1053. PMC 2132865. PMID 9722616. 

Further reading[edit]