Seroatlas · Human Serome Atlas

USP48

Ubiquitin carboxyl-terminal hydrolase 48

Also known as: FLJ11328, FLJ20103, FLJ23054, FLJ23277, MGC14879, UBP48_HUMAN, USP31

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q86UV5
Gene: USP48
Ensembl: ENSG00000090686
Chromosome: 1
Canonical length: 1035 aa
Protein class: Enzymes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Mitochondria,Cytosol

OverviewNCBI Gene

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. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1035 residues, UniProt reviewed canonical sequence.

>Q86UV5|USP48
     1  MAPRLQLEKA AWRWAETVRP EEVSQEHIET AYRIWLEPCI RGVCRRNCKG NPNCLVGIGE
    61  HIWLGEIDEN SFHNIDDPNC ERRKKNSFVG LTNLGATCYV NTFLQVWFLN LELRQALYLC
   121  PSTCSDYMLG DGIQEEKDYE PQTICEHLQY LFALLQNSNR RYIDPSGFVK ALGLDTGQQQ
   181  DAQEFSKLFM SLLEDTLSKQ KNPDVRNIVQ QQFCGEYAYV TVCNQCGRES KLLSKFYELE
   241  LNIQGHKQLT DCISEFLKEE KLEGDNRYFC ENCQSKQNAT RKIRLLSLPC TLNLQLMRFV
   301  FDRQTGHKKK LNTYIGFSEI LDMEPYVEHK GGSYVYELSA VLIHRGVSAY SGHYIAHVKD
   361  PQSGEWYKFN DEDIEKMEGK KLQLGIEEDL AEPSKSQTRK PKCGKGTHCS RNAYMLVYRL
   421  QTQEKPNTTV QVPAFLQELV DRDNSKFEEW CIEMAEMRKQ SVDKGKAKHE EVKELYQRLP
   481  AGAEPYEFVS LEWLQKWLDE STPTKPIDNH ACLCSHDKLH PDKISIMKRI SEYAADIFYS
   541  RYGGGPRLTV KALCKECVVE RCRILRLKNQ LNEDYKTVNN LLKAAVKGSD GFWVGKSSLR
   601  SWRQLALEQL DEQDGDAEQS NGKMNGSTLN KDESKEERKE EEELNFNEDI LCPHGELCIS
   661  ENERRLVSKE AWSKLQQYFP KAPEFPSYKE CCSQCKILER EGEENEALHK MIANEQKTSL
   721  PNLFQDKNRP CLSNWPEDTD VLYIVSQFFV EEWRKFVRKP TRCSPVSSVG NSALLCPHGG
   781  LMFTFASMTK EDSKLIALIW PSEWQMIQKL FVVDHVIKIT RIEVGDVNPS ETQYISEPKL
   841  CPECREGLLC QQQRDLREYT QATIYVHKVV DNKKVMKDSA PELNVSSSET EEDKEEAKPD
   901  GEKDPDFNQS NGGTKRQKIS HQNYIAYQKQ VIRRSMRHRK VRGEKALLVS ANQTLKELKI
   961  QIMHAFSVAP FDQNLSIDGK ILSDDCATLG TLGVIPESVI LLKADEPIAD YAAMDDVMQV
  1021  CMPEEGFKGT GLLGH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against USP48 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.33
Highest tissue expression: 53 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 53 nTPM
retina: 53 nTPM
adrenal gland: 45 nTPM
bone marrow: 41 nTPM
spleen: 35 nTPM
lymph node: 33 nTPM

Single-cell type

plasma cells: 437 nCPM
adrenal cortex cells: 266 nCPM
monocyte progenitors: 246 nCPM
neutrophil progenitors: 196 nCPM
gonadotrophs: 183 nCPM
megakaryocyte-erythroid progenitors: 181 nCPM

Immune cell

basophil: 82 nTPM
eosinophil: 35 nTPM
naive B-cell: 30 nTPM
memory B-cell: 29 nTPM
T-reg: 22 nTPM
myeloid DC: 21 nTPM

Brain region

white matter: 78 nTPM
cerebellum: 71 nTPM
basal ganglia: 56 nTPM
choroid plexus: 52 nTPM
cerebral cortex: 52 nTPM
pons: 51 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about USP48.

Disease | AllUniProt

Conditions USP48 is implicated in, by any mechanism.

Deafness, autosomal dominant, 85 (DFNA85) MIM:620227

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 117 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Hearing loss, autosomal dominant 85

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.16
gnomAD pLI: 1
gnomAD missense Z: 4.37
DepMap mean gene effect: -0.02
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of USP48 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads USP48 as an antibody target. Whether an autoantibody or antibody against USP48 could matter depends on whether native USP48 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

USP48 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label USP48 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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