USP48

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USP48
Identifiers
AliasesUSP48, RAP1GA1, USP31, ubiquitin specific peptidase 48
External IDsMGI: 2158502 HomoloGene: 12988 GeneCards: USP48
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for USP48
Genomic location for USP48
Band1p36.12Start21,678,298 bp[1]
End21,783,606 bp[1]
RNA expression pattern
PBB GE USP48 220078 at fs.png

PBB GE USP48 220079 s at fs.png

PBB GE USP48 gnf1h09297 s at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000090686 - Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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[edit]