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... See more...

Aliases for USP48 Gene

Aliases for USP48 Gene

  • Ubiquitin Specific Peptidase 48 2 3 5
  • Ubiquitin-Specific-Processing Protease 48 3 4
  • Ubiquitin Carboxyl-Terminal Hydrolase 48 3 4
  • Ubiquitin Specific Protease 31 2 3
  • Deubiquitinating Enzyme 48 3 4
  • Ubiquitin Thioesterase 48 3 4
  • USP31 3 4
  • Ubiquitin-Specific Peptidase 48 4
  • Ubiquitin Specific Protease 48 2
  • Ubiquitin-Specific Protease 48 4
  • Ubiquitin Thiolesterase 48 3
  • EC 3.4.19.12 4
  • EC 3.1.2.15 51
  • FLJ23277 2
  • FLJ11328 2
  • FLJ20103 2
  • FLJ23054 2
  • MGC14879 2
  • RAP1GA1 3
  • USP48 5

External Ids for USP48 Gene

Previous HGNC Symbols for USP48 Gene

  • USP31

Previous GeneCards Identifiers for USP48 Gene

  • GC01M021475
  • GC01M021750
  • 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. Diseases associated with USP48 include Pelvic Lipomatosis and Multiple Endocrine Neoplasia, Type Iv. Among its related pathways are Metabolism of proteins and Deubiquitination. Gene Ontology (GO) annotations related to this gene include cysteine-type endopeptidase activity and thiol-dependent ubiquitinyl hydrolase activity. An important paralog of this gene is USP7.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for USP48 Gene

Genomics for USP48 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for USP48 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around USP48 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for USP48

Top Transcription factor binding sites by QIAGEN in the USP48 gene promoter:
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • ATF-2
  • c-Myb
  • CP2
  • CRE-BP1
  • p53
  • Pax-5
  • XBP-1

Genomic Locations for USP48 Gene

Genomic Locations for USP48 Gene
chr1:21,678,298-21,784,146
(GRCh38/hg38)
Size:
105,849 bases
Orientation:
Minus strand
chr1:22,004,791-22,110,099
(GRCh37/hg19)
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};

    Alternative splice isoforms for USP48 Gene

neXtProt entry for USP48 Gene

Selected DME Specific Peptides for USP48 Gene

Q86UV5:
  • APELNVSSSE
  • FYELELNI
  • SLRSWRQLALEQL
  • YSRYGGGP
  • WYKFNDEDIEKMEGKKLQLGIEEDL
  • LRLKNQLNEDYK
  • LQYLFAL
  • HKVVDNKKVMKD
  • KHEEVKELYQRLPA
  • QYFPKAPEFPS
  • SLEWLQKWLDESTP
  • KLHPDKI
  • WFLNLELRQALYLC
  • NAYMLVY

Post-translational modifications for USP48 Gene

  • Ubiquitination at Lys945, Lys170, Lys681, Lys689, Lys696, Lys868, Lys1028, Lys587, and Lys596
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for USP48
  • Santa Cruz Biotechnology (SCBT) Antibodies for USP48

Domains & Families for USP48 Gene

Gene Families for USP48 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for USP48 Gene

InterPro:
Blocks:
  • Ubiquitin domain
  • Ubiquitin thiolesterase, family 2
ProtoNet:

Suggested Antigen Peptide Sequences for USP48 Gene

GenScript: Design optimal peptide antigens:
  • USP48 protein (B7ZKR8_HUMAN)
  • Ubiquitin specific peptidase 48 (B7ZKS3_HUMAN)
  • Ubiquitin-specific-processing protease 48 (UBP48_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86UV5

UniProtKB/Swiss-Prot:

UBP48_HUMAN :
  • Belongs to the peptidase C19 family.
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 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=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).; EC=3.4.19.12; Evidence={ECO:0000269|PubMed:16214042};.

Enzyme Numbers (IUBMB) for USP48 Gene

Phenotypes From GWAS Catalog for USP48 Gene

Gene Ontology (GO) - Molecular Function for USP48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004197 cysteine-type endopeptidase activity IBA 21873635
GO:0004843 thiol-dependent ubiquitin-specific protease activity IBA 21873635
GO:0005515 protein binding IEA --
GO:0008233 peptidase activity IEA --
GO:0008234 cysteine-type peptidase activity IEA --
genes like me logo Genes that share ontologies with USP48: view
genes like me logo Genes that share phenotypes with USP48: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for USP48

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for USP48 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 4
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Mitochondria (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for USP48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IDA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with USP48: view

Pathways & Interactions for USP48 Gene

PathCards logo

SuperPathways 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
  • Ubiquitin-Proteasome Dependent Proteolysis

Gene Ontology (GO) - Biological Process for USP48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006511 ubiquitin-dependent protein catabolic process IEA --
GO:0016579 protein deubiquitination IBA,TAS --
genes like me logo Genes that share ontologies with USP48: view

No data available for SIGNOR curated interactions for USP48 Gene

Drugs & Compounds for USP48 Gene

No Compound Related Data Available

Transcripts for USP48 Gene

mRNA/cDNA for USP48 Gene

7 REFSEQ mRNAs :
27 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for USP48

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

Expression for USP48 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for USP48 Gene



Protein tissue co-expression partners for USP48 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for USP48

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.

Evidence on tissue expression from TISSUES for USP48 Gene

  • Intestine(4.5)
  • Skin(4.5)
  • Pancreas(4.4)
  • Eye(4.4)
  • Nervous system(3.1)
  • Kidney(2.8)
  • Blood(2.5)
  • Adrenal gland(2.5)
  • Thyroid gland(2.4)
  • Lung(2.4)
  • Liver(2.2)
  • Muscle(2.1)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with USP48: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Chimpanzee
(Pan troglodytes)
Mammalia USP48 30 31
  • 99.74 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia USP48 31
  • 94 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 93 (a)
OneToMany
-- 31
  • 90 (a)
OneToMany
-- 31
  • 90 (a)
OneToMany
-- 31
  • 88 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia USP48 30 31
  • 92.66 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia USP48 30 31
  • 92.14 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Usp48 30
  • 86.73 (n)
Mouse
(Mus musculus)
Mammalia Usp48 30 17 31
  • 86.71 (n)
OneToOne
Chicken
(Gallus gallus)
Aves USP48 30 31
  • 77.56 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia USP48 31
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia usp48 30
  • 71.18 (n)
Zebrafish
(Danio rerio)
Actinopterygii usp48 30 31
  • 67.54 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea usp-48 31
  • 13 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBP15 31
  • 13 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 40 (a)
OneToOne
Species where no ortholog for USP48 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for USP48: view image

Paralogs for USP48 Gene

(7) SIMAP similar genes for USP48 Gene using alignment to 9 proteins:

  • UBP48_HUMAN
  • B7ZKR8_HUMAN
  • B7ZKS3_HUMAN
  • B7ZKS7_HUMAN
  • E9PJ87_HUMAN
  • E9PJ93_HUMAN
  • E9PJH5_HUMAN
  • E9PRY5_HUMAN
  • H3BLX5_HUMAN
genes like me logo Genes that share paralogs with USP48: view

Variants for USP48 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for USP48 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
769236 Benign: not provided 21,703,628(-) A/G INTRON_VARIANT
rs1161705890 Uncertain Significance: not provided 21,723,984(-) G/A MISSENSE_VARIANT,INTRON_VARIANT
rs193921025 Uncertain Significance: Malignant tumor of prostate 21,729,761(-) T/C MISSENSE_VARIANT
rs12097805 - p.Glu135Lys
rs4253886 - p.Ser125Cys

Additional dbSNP identifiers (rs#s) for USP48 Gene

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

Variant ID Type Subtype PubMed ID
esv2678062 CNV deletion 23128226
esv34155 CNV loss 18971310
nsv1008548 CNV loss 25217958
nsv1126184 CNV deletion 24896259
nsv508470 CNV deletion 20534489
nsv5854 CNV insertion 18451855
nsv5965 CNV insertion 18451855
nsv834391 CNV loss 17160897
nsv999475 CNV loss 25217958

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)

Additional Variant Information for USP48 Gene

Human Gene Mutation Database (HGMD)
USP48
SNPedia medical, phenotypic, and genealogical associations of SNPs for
USP48

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for USP48 Gene

Disorders for USP48 Gene

MalaCards: The human disease database

(4) MalaCards diseases for USP48 Gene - From: DISEASES

Disorder Aliases PubMed IDs
pelvic lipomatosis
  • excess of mature unencapsulated fatty tissue in the pelvis
multiple endocrine neoplasia, type iv
  • men4
acth-secreting pituitary adenoma
  • pituitary-dependent cushing's disease
carney complex variant
  • carney complex, type 1
- elite association - COSMIC cancer census association via MalaCards
Search USP48 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with USP48: view

No data available for 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 EG (Cellular signalling 2006) 3 4
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for USP48 Gene

Sources for USP48 Gene