USP48

USP48
Identifiers
Aliases	USP48 , RAP1GA1, USP31, ubiquitin specific peptidase 48
External IDs	OMIM: 617445; MGI: 2158502; HomoloGene: 12988; GeneCards: USP48; OMA:USP48 - orthologs
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 Bgee Human Mouse (ortholog) Top expressed in Achilles tendon cerebellar hemisphere right hemisphere of cerebellum endothelial cell right adrenal cortex Brodmann area 23 Epithelium of choroid plexus left adrenal cortex optic nerve sural nerve Top expressed in neural layer of retina morula morula blastocyst tail of embryo Rostral migratory stream genital tubercle superior frontal gyrus cerebellar cortex spermatid More reference expression data BioGPS More reference expression data
Gene ontology Molecular function cysteine-type peptidase activity peptidase activity hydrolase activity thiol-dependent deubiquitinase cysteine-type endopeptidase activity Cellular component 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 NP_001392866 NP_001392867 NP_001392868 NP_001392869 NP_001392871 NP_001392872 NP_001392873 NP_001392880 NP_001392881 NP_001392882 NP_001392883 NP_001392884 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

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

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. Bibcode:2002PNAS...9916899M. 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.