USP48

USP48
Identifiers
AliasesUSP48, RAP1GA1, USP31, ubiquitin specific peptidase 48
External IDsMGI: 2158502 HomoloGene: 12988 GeneCards: USP48
Gene location (Human)
Chr.Chromosome 1 (human)[1]
Band1p36.12Start21,678,298 bp[1]
End21,783,606 bp[1]
RNA expression pattern




More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

84196

170707

Ensembl

ENSG00000090686

ENSMUSG00000043411

UniProt

Q86UV5

Q3V0C5

RefSeq (mRNA)

NM_130879
NM_001347227
NM_001355588

RefSeq (protein)

NP_001334156
NP_570949
NP_001342517

Location (UCSC)Chr 1: 21.68 – 21.78 MbChr 4: 137.59 – 137.66 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. 1 2 3 GRCh38: Ensembl release 89: ENSG00000090686 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000043411 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  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.
  6. 1 2 "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. PMID 9409543.
  • 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.
  • 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. 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.


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.