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Aliases for USP48 Gene

Aliases for USP48 Gene

  • Ubiquitin Specific Peptidase 48 2 3 5
  • Ubiquitin-Specific-Processing Protease 48 3 4
  • Ubiquitin Specific Protease 31 2 3
  • Deubiquitinating Enzyme 48 3 4
  • Ubiquitin Thioesterase 48 3 4
  • USP31 3 4
  • Ubiquitin Specific Protease 48 2
  • Ubiquitin Thiolesterase 48 3
  • EC 3.4.19.12 4
  • EC 3.1.2.15 63
  • RAP1GA1 3

External Ids for USP48 Gene

Previous HGNC Symbols for USP48 Gene

  • USP31

Previous GeneCards Identifiers for USP48 Gene

  • GC01M021475
  • GC01M021877
  • GC01M022004
  • GC01M020248

Summaries for USP48 Gene

Entrez Gene Summary for USP48 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]

GeneCards Summary for USP48 Gene

USP48 (Ubiquitin Specific Peptidase 48) is a Protein Coding gene. Among its related pathways are Ubiquitin-Proteasome Dependent Proteolysis. GO annotations related to this gene include cysteine-type endopeptidase activity and thiol-dependent ubiquitinyl hydrolase activity. An important paralog of this gene is USP41.

UniProtKB/Swiss-Prot for USP48 Gene

  • Recognizes and hydrolyzes the peptide bond at the C-terminal Gly of ubiquitin. Involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins. May be involved in the regulation of NF-kappa-B activation by TNF receptor superfamily via its interactions with RELA and TRAF2. May also play a regulatory role at postsynaptic sites.

Gene Wiki entry for USP48 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for USP48 Gene

Genomics for USP48 Gene

Regulatory Elements for USP48 Gene

Enhancers for USP48 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around USP48 on UCSC Golden Path with GeneCards custom track

Promoters for USP48 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around USP48 on UCSC Golden Path with GeneCards custom track

Genomic Location for USP48 Gene

Chromosome:
1
Start:
21,678,298 bp from pter
End:
21,783,606 bp from pter
Size:
105,309 bases
Orientation:
Minus strand

Genomic View for USP48 Gene

Genes around USP48 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
USP48 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for USP48 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for USP48 Gene

Proteins for USP48 Gene

  • Protein details for USP48 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86UV5-UBP48_HUMAN
    Recommended name:
    Ubiquitin carboxyl-terminal hydrolase 48
    Protein Accession:
    Q86UV5
    Secondary Accessions:
    • B7ZKS7
    • Q2M3I4
    • Q5SZI4
    • Q5T3T5
    • Q6NX53
    • Q8N3F6
    • Q96F64
    • Q96IQ3
    • Q9H5N3
    • Q9H5T7
    • Q9NUJ6
    • Q9NXR0

    Protein attributes for USP48 Gene

    Size:
    1035 amino acids
    Molecular mass:
    119032 Da
    Quaternary structure:
    • Interacts with TRAF2 and RELA.
    SequenceCaution:
    • Sequence=AAH13567.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH67261.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAI03725.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA92128.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI12124.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI16260.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for USP48 Gene

neXtProt entry for USP48 Gene

Proteomics data for USP48 Gene at MOPED

Post-translational modifications for USP48 Gene

  • Ubiquitination at Lys 170, Lys 587, Lys 596, Lys 681, Lys 689, Lys 696, Lys 868, Lys 945, and Lys 1028
  • Modification sites at PhosphoSitePlus

Domains & Families for USP48 Gene

Gene Families for USP48 Gene

Suggested Antigen Peptide Sequences for USP48 Gene

Graphical View of Domain Structure for InterPro Entry

Q86UV5

UniProtKB/Swiss-Prot:

UBP48_HUMAN :
  • Contains 3 DUSP domains.
  • Belongs to the peptidase C19 family.
Domain:
  • Contains 3 DUSP domains.
  • Contains 1 ubiquitin-like domain.
  • Contains 1 USP domain.
Family:
  • Belongs to the peptidase C19 family.
genes like me logo Genes that share domains with USP48: view

Function for USP48 Gene

Molecular function for USP48 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).
UniProtKB/Swiss-Prot Function:
Recognizes and hydrolyzes the peptide bond at the C-terminal Gly of ubiquitin. Involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins. May be involved in the regulation of NF-kappa-B activation by TNF receptor superfamily via its interactions with RELA and TRAF2. May also play a regulatory role at postsynaptic sites.

Enzyme Numbers (IUBMB) for USP48 Gene

genes like me logo Genes that share phenotypes with USP48: view

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for USP48 Gene

Localization for USP48 Gene

Subcellular locations from UniProtKB/Swiss-Prot for USP48 Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for USP48 Gene COMPARTMENTS Subcellular localization image for USP48 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 3
plasma membrane 2

Gene Ontology (GO) - Cellular Components for USP48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0045121 membrane raft IEA --
genes like me logo Genes that share ontologies with USP48: view

Pathways & Interactions for USP48 Gene

genes like me logo Genes that share pathways with USP48: view

Pathways by source for USP48 Gene

1 Qiagen pathway for USP48 Gene

Gene Ontology (GO) - Biological Process for USP48 Gene

None

No data available for SIGNOR curated interactions for USP48 Gene

Drugs & Compounds for USP48 Gene

No Compound Related Data Available

Transcripts for USP48 Gene

Unigene Clusters for USP48 Gene

Ubiquitin specific peptidase 48:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for USP48 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c ^ 16 ^ 17 ^ 18 ^
SP1: - - - - - -
SP2: - - - - - -
SP3:
SP4: - -
SP5: - - -
SP6: - - -
SP7:
SP8: - - -
SP9: -

ExUns: 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28
SP1: - -
SP2:
SP3: - - -
SP4:
SP5:
SP6:
SP7: -
SP8:
SP9:

Relevant External Links for USP48 Gene

GeneLoc Exon Structure for
USP48
ECgene alternative splicing isoforms for
USP48

Expression for USP48 Gene

mRNA expression in normal human tissues for USP48 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for USP48 Gene

This gene is overexpressed in Lymph node (13.6), CD8 Tcells (6.8), and Ovary (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for USP48 Gene



SOURCE GeneReport for Unigene cluster for USP48 Gene Hs.467524

mRNA Expression by UniProt/SwissProt for USP48 Gene

Q86UV5-UBP48_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with USP48: view

Protein tissue co-expression partners for USP48 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues for USP48 Gene

Orthologs for USP48 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for USP48 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia USP48 35
  • 92.14 (n)
  • 97.1 (a)
USP48 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia USP48 35
  • 92.66 (n)
  • 97.87 (a)
USP48 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Usp48 35
  • 86.71 (n)
  • 94.09 (a)
Usp48 16
Usp48 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia USP48 35
  • 99.74 (n)
  • 99.81 (a)
USP48 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Usp48 35
  • 86.73 (n)
  • 93.91 (a)
oppossum
(Monodelphis domestica)
Mammalia USP48 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 90 (a)
OneToMany
-- 36
  • 88 (a)
OneToMany
-- 36
  • 90 (a)
OneToMany
-- 36
  • 93 (a)
OneToMany
chicken
(Gallus gallus)
Aves USP48 35
  • 77.56 (n)
  • 87.49 (a)
USP48 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia USP48 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia usp48 35
  • 71.18 (n)
  • 77.56 (a)
zebrafish
(Danio rerio)
Actinopterygii usp48 35
  • 67.54 (n)
  • 70.68 (a)
usp48 36
  • 69 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea usp-48 36
  • 13 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBP15 36
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
OneToOne
Species with no ortholog for USP48:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for USP48 Gene

ENSEMBL:
Gene Tree for USP48 (if available)
TreeFam:
Gene Tree for USP48 (if available)

Paralogs for USP48 Gene

Paralogs for USP48 Gene

genes like me logo Genes that share paralogs with USP48: view

Variants for USP48 Gene

Sequence variations from dbSNP and Humsavar for USP48 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_027427 -
VAR_027428 -
rs333168 -- 21,708,509(+) AAaaa(C/T)aaaca intron-variant
rs333169 -- 21,707,894(+) cacag(A/T)ggctt intron-variant
rs333170 -- 21,707,451(+) AAAAC(C/T)ATCTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for USP48 Gene

Variant ID Type Subtype PubMed ID
esv34155 CNV Loss 18971310
nsv834391 CNV Loss 17160897
nsv870764 CNV Loss 21882294
nsv5854 CNV Insertion 18451855
nsv5965 CNV Insertion 18451855
nsv508470 CNV Loss 20534489
esv2678062 CNV Deletion 23128226
nsv871274 CNV Loss 21882294

Variation tolerance for USP48 Gene

Residual Variation Intolerance Score: 9.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.34; 41.62% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for USP48 Gene

Disorders for USP48 Gene

Relevant External Links for USP48

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
USP48

No disorders were found for USP48 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for USP48 Gene

Publications for USP48 Gene

  1. Human ubiquitin specific protease 31 is a deubiquitinating enzyme implicated in activation of nuclear factor-kappaB. (PMID: 16214042) Tzimas C. … Hatzivassiliou E.G. (Cell. Signal. 2006) 3 4 67
  2. Human and mouse proteases: a comparative genomic approach. (PMID: 12838346) Puente X.S. … Lopez-Otin C. (Nat. Rev. Genet. 2003) 2 3
  3. Proximity biotinylation and affinity purification are complementary approaches for the interactome mapping of chromatin-associated protein complexes. (PMID: 25281560) Lambert J.P. … Gingras A.C. (J Proteomics 2015) 3
  4. CSN-associated USP48 confers stability to nuclear NF-I_B/RelA by trimming K48-linked Ub-chains. (PMID: 25486460) Schweitzer K. … Naumann M. (Biochim. Biophys. Acta 2015) 3
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3

Products for USP48 Gene

Sources for USP48 Gene

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