USP48

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

AliasesUSP48, RAP1GA1, USP31, ubiquitin specific peptidase 48

External IDsOMIM: 617445; MGI: 2158502; HomoloGene: 12988; GeneCards: USP48; OMA:USP48 - orthologs

Chr.Chromosome 1 (human)^[1]

End21,783,606 bp^[1]

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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]
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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]