USP48

Last updated
USP48
Identifiers
Aliases USP48 , RAP1GA1, USP31, ubiquitin specific peptidase 48
External IDs OMIM: 617445 MGI: 2158502 HomoloGene: 12988 GeneCards: USP48
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_130879
NM_001347227
NM_001355588

RefSeq (protein)
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]

Related Research Articles

<span class="mw-page-title-main">USP8</span> Protein-coding gene in the species Homo sapiens

Ubiquitin carboxyl-terminal hydrolase 8 is an enzyme that in humans is encoded by the USP8 gene.

<span class="mw-page-title-main">USP6</span> Protein-coding gene in the species Homo sapiens

Ubiquitin carboxyl-terminal hydrolase 6 (USB6), also termed TRE17 and Tre-2, is a deubiquitinating enzyme that in humans is encoded by the hominid USP6 gene located at band 13.2 on the short arm of chromosome 17. Deubiquitinating enzymes (DUBs) are enzymes that act within cells to remove ubiquitins from various functionally important proteins. Ubiquitin enzymes add ubiquitin to these proteins and thereby regulate their cellular location, alter their activity, and/or promote their degradation. By deubiquitinating these proteins, DUBs counter the effects of the ubiquinating enzymes and contribute to regulating the actions of the targeted proteins. In normal adult tissues, USP6 is highly expressed in testicle tissue, modestly expressed in ovarian tissue, and absent or minimally expressed in other tissues. It is also highly expressed in fetal brain tissue. The specific functions of USP6 are poorly defined primarily because its presence is restricted to primates: there are no available animal models to determine the effects of its deletion, although some studies suggest that UPSP6 contributes to normal brain development. In all events, USP6 has gained wide interest because of its abnormally increased expression by the neoplastic cells in various tumors derived from mesenchymal tissue.

<span class="mw-page-title-main">USP16</span> Protein-coding gene in the species Homo sapiens

Ubiquitin carboxyl-terminal hydrolase 16 is an enzyme that in humans is encoded by the USP16 gene.

<span class="mw-page-title-main">USP4</span> Protein-coding gene in the species Homo sapiens

Ubiquitin specific protease 4 (USP4) is an enzyme that cleaves ubiquitin from a number of protein substrates. Prior to the standardization of nomenclature USP4 was known as UNP, and was one of the first deubiquitinating enzymes to be identified in mammals. In the mouse and human the USP4 protein is encoded by a gene containing 22 exons.

<span class="mw-page-title-main">USP11</span> Protein-coding gene in the species Homo sapiens

Ubiquitin carboxyl-terminal hydrolase or Ubiquitin specific protease 11 is an enzyme that in humans is encoded by the USP11 gene. USP11 belongs to the Ubiquitin specific proteases family (USPs) which is a sub-family of the Deubiquitinating enzymes (DUBs).USPs are multiple domain proteases and belong to the C19 cysteine proteases sub‒family. Depending on their domain architecture and position there is different homology between the various members. Generally the largest domain is the catalytic domain which harbours the three residue catalytic triad that is included inside conserved motifs. The catalytic domain also contains sequences that are not related with the catalysis function and their role is mostly not clearly understood at present, the length of these sequences varies for each USP and therefore the length of the whole catalytic domain can range from approximately 295 to 850 amino acids. Particular sequences inside the catalytic domain or at the N‒terminus of some USPs have been characterised as UBL and DUSP domains respectively. In some cases, regarding the UBL domains, it has been reported to have a catalysis enhancing function as in the case of USP7. In addition, a so‒called DU domain module is the combination of a DUSP domain followed by a UBL domain separated by a linker and is found in USP11 as well as in USP15 and USP4.

<span class="mw-page-title-main">USP36</span> Protein-coding gene in the species Homo sapiens

Ubiquitin-specific protease 36 is an enzyme that in humans is encoded by the USP36 gene.

<span class="mw-page-title-main">UCHL3</span> Enzyme in humans encoded by the UCHL3 gene

Ubiquitin carboxyl-terminal hydrolase isozyme L3 is an enzyme that in humans is encoded by the UCHL3 gene.

<span class="mw-page-title-main">USP1</span> Protein-coding gene in the species Homo sapiens

Ubiquitin carboxyl-terminal hydrolase 1 is an enzyme that in humans is encoded by the USP1 gene.

<span class="mw-page-title-main">USP15</span> Protein-coding gene in the species Homo sapiens

Ubiquitin carboxyl-terminal hydrolase 15 is an enzyme that in humans is encoded by the USP15 gene.

<span class="mw-page-title-main">USP24</span> Protein-coding gene in the species Homo sapiens

Ubiquitin carboxyl-terminal hydrolase 24 is an enzyme that in humans is encoded by the USP24 gene.

<span class="mw-page-title-main">USP47</span> Protein-coding gene in the species Homo sapiens

Ubiquitin carboxyl-terminal hydrolase 47 is an enzyme that in humans is encoded by the USP47 gene.

<span class="mw-page-title-main">USP44</span> Protein-coding gene in the species Homo sapiens

Ubiquitin carboxyl-terminal hydrolase 44 is an enzyme that in humans is encoded by the USP44 gene.

<span class="mw-page-title-main">USP2</span> Protein-coding gene in the species Homo sapiens

Ubiquitin carboxyl-terminal hydrolase 2 is an enzyme that in humans is encoded by the USP2 gene.

<span class="mw-page-title-main">USP13</span> Protein-coding gene in the species Homo sapiens

Ubiquitin carboxyl-terminal hydrolase 13 is an enzyme that in humans is encoded by the USP13 gene.

<span class="mw-page-title-main">USP14</span> Protein-coding gene in the species Homo sapiens

Ubiquitin-specific protease 14 is an enzyme that in humans is encoded by the USP14 gene.

<span class="mw-page-title-main">USP20</span> Protein-coding gene in the species Homo sapiens

Ubiquitin carboxyl-terminal hydrolase 20 is an enzyme that in humans is encoded by the USP20 gene.

<span class="mw-page-title-main">USP40</span> Protein-coding gene in the species Homo sapiens

Ubiquitin carboxyl-terminal hydrolase 40 is an enzyme that in humans is encoded by the USP40 gene.

<span class="mw-page-title-main">USP34</span> Protein-coding gene in the species Homo sapiens

Ubiquitin carboxyl-terminal hydrolase 34 is an enzyme that in humans is encoded by the USP34 gene.

<span class="mw-page-title-main">USP51</span> Protein-coding gene in the species Homo sapiens

Ubiquitin carboxyl-terminal hydrolase 51 is an enzyme that in humans is encoded by the USP51 gene.

<span class="mw-page-title-main">USP42</span> Protein-coding gene in the species Homo sapiens

Ubiquitin carboxyl-terminal hydrolase 42 is an enzyme that in humans is encoded by the USP42 gene.

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