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USP48 Gene

protein-coding   GIFtS: 52
GCID: GC01M022004

Ubiquitin Specific Peptidase 48

(Previous names: ubiquitin specific protease 31, ubiquitin specific protease...)
(Previous symbol: USP31)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ubiquitin Specific Peptidase 481 2     Ubiquitin-Specific-Processing Protease 482 3
USP311 2 3     RAP1GA12
Ubiquitin Specific Protease 311 2     Ubiquitin Carboxyl-Terminal Hydrolase 482
Ubiquitin Specific Protease 481 2     Ubiquitin Thiolesterase 482
Deubiquitinating Enzyme 482 3     EC 3.4.19.123
Ubiquitin Thioesterase 482 3     EC 3.1.2.158

External Ids:    HGNC: 185331   Entrez Gene: 841962   Ensembl: ENSG000000906867   UniProtKB: Q86UV53   

Export aliases for USP48 gene to outside databases

Previous GC identifers: GC01M021475 GC01M021750 GC01M021877 GC01M020248


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include cysteine-type peptidase activity and ubiquitin thiolesterase activity. An important paralog of this gene is USP24.

UniProtKB/Swiss-Prot: UBP48_HUMAN, Q86UV5
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

Gene Wiki entry for USP48 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the USP48 gene promoter:
         p53   Pax-5   ATF-2   XBP-1   AP-2gamma   CRE-BP1   CP2   c-Myb   AP-2beta   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUSP48 promoter sequence
   Search Chromatin IP Primers for USP48

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat USP48


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36.12   Ensembl cytogenetic band:  1p36.12   HGNC cytogenetic band: 1p36.12

USP48 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
USP48 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M022004:  view genomic region     (about GC identifiers)

Start:
22,004,791 bp from pter      End:
22,110,099 bp from pter
Size:
105,309 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: UBP48_HUMAN, Q86UV5 (See protein sequence)
Recommended Name: Ubiquitin carboxyl-terminal hydrolase 48  
Size: 1035 amino acids; 119032 Da
Subunit: Interacts with TRAF2 and RELA
Caution: Was termed (PubMed:15354349 and PubMed:17081983) USP31
Sequence caution: Sequence=AAH13567.1; Type=Erroneous initiation; Sequence=AAH67261.1; Type=Miscellaneous
discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAI03725.1; Type=Miscellaneous
discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAA92128.1; Type=Erroneous
initiation; Sequence=CAI12124.1; Type=Erroneous gene model prediction; Sequence=CAI16260.1; Type=Erroneous gene
model prediction;
Secondary accessions: Q2M3I4 Q5SZI4 Q5T3T5 Q6NX53 Q8N3F6 Q96F64 Q96IQ3 Q9H5N3 Q9H5T7 Q9NUJ6
Q9NXR0
Alternative splicing: 7 isoforms:  Q86UV5-1   Q86UV5-2   Q86UV5-3   Q86UV5-4   Q86UV5-5   Q86UV5-6   Q86UV5-7   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for USP48: NX_Q86UV5

Explore proteomics data for USP48 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys170, Lys587, Lys596, Lys681, Lys689, Lys696, Lys868, Lys945, Lys1028
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for USP48 (Q86UV5) (see all 14)
     NAYMLVY  KLHPDKI  LQYLFAL  YSRYGGGP 


    See USP48 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001027902.1  NP_115612.4  

    ENSEMBL proteins: 
     ENSP00000309262   ENSP00000363864   ENSP00000431949   ENSP00000431832   ENSP00000435604  
     ENSP00000406256   ENSP00000363862   ENSP00000434073   ENSP00000435612   ENSP00000383157  

    USP48 Human Recombinant Protein Products:

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    Browse OriGene Protein Over-expression Lysates
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    Novus Biologicals USP48 Proteins
    Novus Biologicals USP48 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for USP48

     
    Search eBioscience for Proteins for USP48 

    USP48 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    OriGene Antibodies for USP48
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    Novus Biologicals USP48 Antibodies
    Abcam antibodies for USP48
    Cloud-Clone Corp. Antibodies for USP48
    Search ThermoFisher Antibodies for USP48
    LSBio Antibodies in human, mouse, rat for USP48

    USP48 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for USP48
    Cloud-Clone Corp. CLIAs for USP48
    Search eBioscience for ELISAs for USP48 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    USP: Ubiquitin-specific peptidases

    5 InterPro protein domains:
     IPR001394 Peptidase_C19_UCH
     IPR018200 Pept_C19ubi-hydrolase_C_CS
     IPR000626 Ubiquitin_dom
     IPR028889 UCH/PAN2
     IPR006615 Pept_C19_DUSP

    Graphical View of Domain Structure for InterPro Entry Q86UV5

    ProtoNet protein and cluster: Q86UV5

    2 Blocks protein domains:
    IPB000626 Ubiquitin domain
    IPB001394 Ubiquitin thiolesterase


    UniProtKB/Swiss-Prot: UBP48_HUMAN, Q86UV5
    Similarity: Belongs to the peptidase C19 family
    Similarity: Contains 3 DUSP domains
    Similarity: Contains 1 ubiquitin-like domain
    Similarity: Contains 1 USP domain


    Find genes that share domains with USP48           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UBP48_HUMAN, Q86UV5
    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
    Catalytic activity: 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)

         Enzyme Numbers (IUBMB): EC 3.1.2.152 EC 3.4.19.121

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004221ubiquitin thiolesterase activity ----
    GO:0004843ubiquitin-specific protease activity IEA--
    GO:0005515protein binding ----
    GO:0008234cysteine-type peptidase activity ----
         
    Find genes that share ontologies with USP48           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for USP48:
     Increased HPV18 LCR reporter a 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for USP48
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for USP48
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for USP48

    miRNA
    Products:
        
    miRTarBase miRNAs that target USP48:
    hsa-mir-148b-3p (MIRT019401), hsa-mir-124-3p (MIRT002595)

    Block miRNA regulation of human, mouse, rat USP48 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate USP48 (see all 38):
    hsa-miR-488 hsa-miR-30d hsa-miR-301a hsa-miR-877* hsa-miR-30a hsa-miR-124 hsa-miR-3122 hsa-miR-489
    SwitchGear 3'UTR luciferase reporter plasmidUSP48 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for USP48
    Predesigned siRNA for gene silencing in human, mouse, rat USP48

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for USP48 (see all 14)
    OriGene ORF clones in mouse, rat for USP48
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): USP48 (NM_032236)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for USP48
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat USP48
    Addgene plasmids for USP48 

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for USP48 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for USP48


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    UBP48_HUMAN, Q86UV5: Cytoplasm. Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    mitochondrion4
    cytosol3

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IDA--

    Find genes that share ontologies with USP48           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for USP48 About    
    See pathways by source

    SuperPathContained pathways About
    1Ubiquitin-Proteasome Dependent Proteolysis
    Ubiquitin-Proteasome Dependent Proteolysis

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for USP48
        Ubiquitin-Proteasome Dependent Proteolysis


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for USP48
    Interactions:

        Search GeneGlobe Interaction Network for USP48

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for USP48 (Q86UV52, 3 ENSP000003092624) via UniProtKB, MINT, STRING, and/or I2D (see all 610)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011063, ENSP000003672074I2D: score=3 STRING: ENSP00000367207
    SRSF11Q055192, ENSP000003599884MINT-7945693 STRING: ENSP00000359988
    USP21Q9UK803, ENSP000002898654I2D: score=2 STRING: ENSP00000289865
    AP3B1O002032, ENSP000002551944MINT-7945693 STRING: ENSP00000255194
    SNW1Q135732, ENSP000002615314MINT-7945693 STRING: ENSP00000261531
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006511ubiquitin-dependent protein catabolic process IEA--

    Find genes that share ontologies with USP48           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for USP48 (UBP48)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for USP48 gene (2 alternative transcripts): 
    NM_001032730.1  NM_032236.5  

    Unigene Cluster for USP48:

    Ubiquitin specific peptidase 48
    Hs.467524  [show with all ESTs]
    Unigene Representative Sequence: NM_032236
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000308271 ENST00000374732(uc001bfa.3) ENST00000479177 ENST00000529637
    ENST00000464577(uc001bfd.1) ENST00000471752 ENST00000487880 ENST00000526044
    ENST00000534705 ENST00000421625(uc001bff.3) ENST00000374730 ENST00000527823
    ENST00000532737 ENST00000489108 ENST00000400301(uc001bfb.3 uc010odq.2 uc009vqc.3 uc001bfc.3 uc001bfe.1)

    miRNA
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    Block miRNA regulation of human, mouse, rat USP48 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate USP48 (see all 38):
    hsa-miR-488 hsa-miR-30d hsa-miR-301a hsa-miR-877* hsa-miR-30a hsa-miR-124 hsa-miR-3122 hsa-miR-489
    SwitchGear 3'UTR luciferase reporter plasmidUSP48 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat USP48
    Clone
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    OriGene clones in human, mouse for USP48 (see all 14)
    OriGene ORF clones in mouse, rat for USP48
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): USP48 (NM_032236)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for USP48
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat USP48
    Addgene plasmids for USP48 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for USP48
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat USP48
      QuantiTect SYBR Green Assays in human, mouse, rat USP48
      QuantiFast Probe-based Assays in human, mouse, rat USP48

    Additional mRNA sequence: 

    AF502942.1 AK002190.1 AK021830.1 AK074247.1 AK226150.1 AK315005.1 AL834375.1 BC007326.2 
    BC011576.1 BC013567.1 BC067261.1 BC103724.1 BC104896.1 BC143343.1 BC143349.1 BC143354.1 

    16 DOTS entries:

    DT.92435065  DT.444088  DT.100833154  DT.100794671  DT.92435066  DT.100794676  DT.92435067  DT.121425216 
    DT.92036021  DT.92435061  DT.100794670  DT.102824660  DT.121425117  DT.121425147  DT.121425207  DT.95268793 

    Selected AceView cDNA sequences (see all 196):

    BU631950 BC013567 BC007326 AA465347 BU619865 BG118995 AV708757 AA477018 
    BM821253 BQ014008 CA436959 AI826598 CA441554 AA323957 BM932195 AI248244 
    CA428444 BE378955 CK430217 AW051668 AA789280 AL120998 BF933148 AK074247 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for USP48 (see all 9)    About this scheme

    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:                                                                                                  -     -     -                                             

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


    ECgene alternative splicing isoforms for USP48

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    USP48 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAGTGAAGA
    USP48 Expression
    About this image


    USP48 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Blood (Hematopoietic System)
             pre Conventional Dendritic Cells Peripheral Blood
     
     Eye (Sensory Organs)
             Retina
    USP48 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    USP48 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.467524

    UniProtKB/Swiss-Prot: UBP48_HUMAN, Q86UV5
    Tissue specificity: Widely expressed

        Custom PCR Arrays for USP48
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    QuantiFast Probe-based Assays in human, mouse, rat USP48
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for USP48

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for USP48 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Usp481 , 5 ubiquitin specific peptidase 481, 5 86.71(n)1
    94.09(a)1
      4 (70.00 cM)5
    1707071  NM_130879.21  NP_570949.21 
     1375937555 
    chicken
    (Gallus gallus)
    Aves USP481 ubiquitin specific peptidase 48 77.56(n)
    87.49(a)
      769457  NM_001079743.1  NP_001073211.1 
    lizard
    (Anolis carolinensis)
    Reptilia USP486
    ubiquitin specific peptidase 48
    81(a)
    1 ↔ 1
    GL344645.1(3474-24459)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia CF783405.12   -- 76.43(n)    CF783405.1 
    zebrafish
    (Danio rerio)
    Actinopterygii usp481 ubiquitin specific peptidase 48 67.54(n)
    70.68(a)
      100332674  XM_005172917.1  XP_005172974.1 
    worm
    (Caenorhabditis elegans)
    Secernentea usp-486
    Protein USP-48 (usp-48) mRNA, complete cds
    13(a)
    1 ↔ 1
    I(9506553-9511185) WBGene00009267
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes UBP156
    Ubiquitin-specific protease involved in protein de...
    13(a)
    1 → many
    XIII(874987-878679) YMR304W


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for USP48 gene
    USP242  USP182  USP412  USP402  USP72  USP472  USP342  USP9Y2  
    USP9X2  
    7 SIMAP similar genes for USP48 using alignment to 9 protein entries:     UBP48_HUMAN (see all proteins):
    USP36    USP3    USP17L13    USP2    USP33    USP7
    USP15

    Find genes that share paralogs with USP48           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for USP48 (see all 2257)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs773992841,2
    C,F--22004294(+) TTCTTT/CGGAGC 1 -- ds50011Minor allele frequency- C:0.07NA 120
    rs75168271,2
    C,F--22004399(+) GGTTCC/TACTCC 1 -- ds50012Minor allele frequency- T:0.04WA EA 238
    rs8293971,2
    C,F,A,H--22004400(+) GTTCCG/ACTCCT 1 -- ds500117Minor allele frequency- A:0.12MN NS EA NA WA CSA 953
    rs1484194921,2
    C--22004422(+) TCAGGC/GGGCTG 1 -- ds50010--------
    rs726603621,2
    C,F--22004648(+) ATGATC/GTGAGT 1 -- ds50011Minor allele frequency- G:0.03NA 120
    rs1828464751,2
    --22004671(+) GAAAGA/GGGGAA 1 -- ds50010--------
    rs1871949161,2
    --22004762(+) CAGACA/GGACTC 1 -- ds50010--------
    rs114282151,2
    C--22004779(+) TTTTT-/T/TT  
            
    CAAAG
    1 -- ds50010--------
    rs1921317551,2
    --22004862(+) GCTTCA/GGTTAC 1 -- ut310--------
    rs109170341,2
    C,F,A,H--22004929(+) TCCTTT/GTTTAA 1 -- ut31 trp310Minor allele frequency- G:0.09NS EA NA CSA WA 1210

    HapMap Linkage Disequilibrium report for USP48 (22004791 - 22110099 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for USP48:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2678062CNV Deletion23128226
    nsv5854CNV Insertion18451855
    nsv5965CNV Insertion18451855
    nsv871274CNV Loss21882294
    nsv870764CNV Loss21882294
    esv34155CNV Loss18971310
    nsv508470CNV Loss20534489
    nsv834391CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing USP48
    DNA2.0 Custom Variant and Variant Library Synthesis for USP48

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for USP48 gene, integrated from 10 sources (see all 30):
    (articles sorted by number of sources associating them with USP48)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human ubiquitin specific protease 31 is a deubiquitinating enzyme implicated in activation of nuclear factor-kappaB. (PubMed id 16214042)1, 2 Tzimas C....Hatzivassiliou E.G. (Cell. Signal. 2006)
    2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    4. Identification of the human ubiquitin specific protease 31 (USP31) gene: structure, sequence and expression analysis. (PubMed id 15354349)1, 2 Lockhart P.J.... Farrer M.J. (DNA Seq. 2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Cloning and enzymatic analysis of 22 novel human ubiquitin-specific proteases. (PubMed id 14715245)1, 2 Quesada V.... Lopez-Otin C. (Biochem. Biophys. Res. Commun. 2004)
    8. Human and mouse proteases: a comparative genomic approach. (PubMed id 12838346)1, 3 Puente X.S.... Lopez-Otin C. (Nat. Rev. Genet. 2003)
    9. A strategy for modulation of enzymes in the ubiquitin system. (PubMed id 23287719)1 Ernst A.... Sidhu S.S. (Science 2013)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 84196 HGNC: 18533 AceView: USP48 Ensembl:ENSG00000090686 euGenes: HUgn84196
    ECgene: USP48 H-InvDB: USP48

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for USP48 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for USP48 gene:
    Search GeneIP for patents involving USP48

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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