USP48

Ubiquitin carboxyl-terminal hydrolase 48 is an enzyme that in humans is encoded by the USP48 gene.[5][6]

USP48
Identifiers
Aliases	USP48, RAP1GA1, USP31, ubiquitin specific peptidase 48
External IDs	OMIM: 617445 MGI: 2158502 HomoloGene: 12988 GeneCards: USP48
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p36.12 Start 21,678,298 bp[1] End 21,783,606 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 D3 Start 137,593,755 bp[2] End 137,658,537 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • cysteine-type peptidase activity • peptidase activity • hydrolase activity • thiol-dependent ubiquitin-specific protease activity • cysteine-type endopeptidase activity Cellular component • cell nucleus • mitochondrion • nucleoplasm • cytoplasm • cytosol Biological process • proteolysis • ubiquitin-dependent protein catabolic process • protein deubiquitination Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	84196	170707
Ensembl	ENSG00000090686	ENSMUSG00000043411
UniProt	Q86UV5	Q3V0C5
RefSeq (mRNA)	NM_001032730 NM_032236 NM_001330394 NM_001350164 NM_001350166 NM_001350167 NM_001350168	NM_130879 NM_001347227 NM_001355588
RefSeq (protein)	NP_001027902 NP_001317323 NP_115612 NP_001337093 NP_001337095 NP_001337096 NP_001337097	NP_001334156 NP_570949 NP_001342517
Location (UCSC)	Chr 1: 21.68 – 21.78 Mb	Chr 4: 137.59 – 137.66 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

This gene encodes a protein containing domains that associate it with the peptidase family C19, also known as family 2 of ubiquitin carboxyl-terminal hydrolases. Family members function as deubiquitinating enzymes, recognizing and hydrolyzing the peptide bond at the C-terminal glycine of ubiquitin. Enzymes in peptidase family C19 are involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.[6]

In melanocytic cells USP48 gene expression may be regulated by MITF.[7]

References

1. GRCh38: Ensembl release 89: ENSG00000090686 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000043411 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Puente XS, Sanchez LM, Overall CM, Lopez-Otin C (Jul 2003). "Human and mouse proteases: a comparative genomic approach". Nat Rev Genet. 4 (7): 544–58. doi:10.1038/nrg1111. PMID 12838346. S2CID 2856065.
6. "Entrez Gene: USP48 ubiquitin specific peptidase 48".
7. Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.

Further reading

• Wilkinson KD (1998). "Regulation of ubiquitin-dependent processes by deubiquitinating enzymes". FASEB J. 11 (14): 1245–56. doi:10.1096/fasebj.11.14.9409543. PMID 9409543. S2CID 11788220.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Quesada V, Díaz-Perales A, Gutiérrez-Fernández A, et al. (2004). "Cloning and enzymatic analysis of 22 novel human ubiquitin-specific proteases". Biochem. Biophys. Res. Commun. 314 (1): 54–62. doi:10.1016/j.bbrc.2003.12.050. PMID 14715245.
• Suzuki Y, Yamashita R, Shirota M, et al. (2004). "Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions". Genome Res. 14 (9): 1711–8. doi:10.1101/gr.2435604. PMC 515316. PMID 15342556.
• Lockhart PJ, Hulihan M, Lincoln S, et al. (2004). "Identification of the human ubiquitin specific protease 31 (USP31) gene: structure, sequence and expression analysis". DNA Seq. 15 (1): 9–14. doi:10.1080/10855660310001638197. PMID 15354349. S2CID 36992328.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Tzimas C, Michailidou G, Arsenakis M, et al. (2006). "Human ubiquitin specific protease 31 is a deubiquitinating enzyme implicated in activation of nuclear factor-kappaB". Cell. Signal. 18 (1): 83–92. doi:10.1016/j.cellsig.2005.03.017. PMID 16214042.
• Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. Bibcode:2006Natur.441..315G. doi:10.1038/nature04727. PMID 16710414.
• Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.