Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
USP14
Introduction
Ubiquitin-specific protease 14 is an enzyme that in humans is encoded by the USP14 gene.[1][2]
This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. Mice with a mutation that results in reduced expression of the ortholog of this protein are retarded for growth, develop severe tremors by 2 to 3 weeks of age followed by hindlimb paralysis and death by 6 to 10 weeks of age. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.[2]
References
References
- ↑ Puente XS, Sánchez LM, Overall CM, López-OtÃn C (Jul 2003). “Human and mouse proteases: a comparative genomic approach”. Nat Rev Genet. 4 (7): 544–58. doi:10.1038/nrg1111. PMID 12838346.
- ↑ 2.0 2.1 “Entrez Gene: USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)”.
- ↑ Mines MA, Goodwin JS, Limbird LE, Cui FF, Fan GH (Feb 2009). “Deubiquitination of CXCR4 by USP14 is critical for both CXCL12-induced CXCR4 degradation and chemotaxis but not ERK activation”. J. Biol. Chem. 284 (9): 5742–52. doi:10.1074/jbc.M808507200. PMC 2645827. PMID 19106094.
Further reading
Further reading
- Wilson SM, Bhattacharyya B, Rachel RA, Coppola V, Tessarollo L, Householder DB, Fletcher CF, Miller RJ, Copeland NG, Jenkins NA (2002). “Synaptic defects in ataxia mice result from a mutation in Usp14, encoding a ubiquitin-specific protease”. Nature Genetics. 32 (3): 420–425. doi:10.1038/ng1006. PMID 12368914.
- D’Andrea A, Pellman D (1999). “Deubiquitinating enzymes: a new class of biological regulators”. Crit. Rev. Biochem. Mol. Biol. 33 (5): 337–52. doi:10.1080/10409239891204251. PMID 9827704.
- Deshpande KL, Seubert PH, Tillman DM, Farkas WR, Katze JR (1996). “Cloning and characterization of cDNA encoding the rabbit tRNA-guanine transglycosylase 60-kilodalton subunit”. Arch. Biochem. Biophys. 326 (1): 1–7. doi:10.1006/abbi.1996.0039. PMID 8579355.
- Reuter TY, Medhurst AL, Waisfisz Q, Zhi Y, Herterich S, Hoehn H, Gross HJ, Joenje H, Hoatlin ME, Mathew CG, Huber PA (2003). “Yeast two-hybrid screens imply involvement of Fanconi anemia proteins in transcription regulation, cell signaling, oxidative metabolism, and cellular transport”. Exp. Cell Res. 289 (2): 211–21. doi:10.1016/S0014-4827(03)00261-1. PMID 14499622.
- Dennehey BK, Gutches DG, McConkey EH, Krauter KS (2004). “Inversion, duplication, and changes in gene context are associated with human chromosome 18 evolution”. Genomics. 83 (3): 493–501. doi:10.1016/j.ygeno.2003.08.017. PMID 14962675.
- Hu M, Li P, Song L, Jeffrey PD, Chenova TA, Wilkinson KD, Cohen RE, Shi Y (2005). “Structure and mechanisms of the proteasome-associated deubiquitinating enzyme USP14”. EMBO J. 24 (21): 3747–56. doi:10.1038/sj.emboj.7600832. PMC 1276716. PMID 16211010.
- Shinji S, Naito Z, Ishiwata S, Ishiwata T, Tanaka N, Furukawa K, Suzuki H, Seya T, Matsuda A, Katsuta M, Tajiri T (2006). “Ubiquitin-specific protease 14 expression in colorectal cancer is associated with liver and lymph node metastases”. Oncol. Rep. 15 (3): 539–43. doi:10.3892/or.15.3.539. PMID 16465409.
- Crimmins S, Jin Y, Wheeler C, Huffman AK, Chapman C, Dobrunz LE, Levey A, Roth KA, Wilson JA, Wilson SM (2006). “Transgenic rescue of ataxia mice with neuronal-specific expression of ubiquitin-specific protease 14”. J. Neurosci. 26 (44): 11423–31. doi:10.1523/JNEUROSCI.3600-06.2006. PMID 17079671.