USP48
Identifiers
AliasesUSP48, RAP1GA1, USP31, ubiquitin specific peptidase 48
External IDsOMIM: 617445 MGI: 2158502 HomoloGene: 12988 GeneCards: USP48
Orthologs
SpeciesHumanMouse
Entrez

84196

170707

Ensembl

ENSG00000090686

ENSMUSG00000043411

UniProt

Q86UV5

Q3V0C5

RefSeq (mRNA)

NM_130879
NM_001347227
NM_001355588

RefSeq (protein)
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:". 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. 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


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