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USP54 Gene

protein-coding   GIFtS: 53
GCID: GC10M075257

Ubiquitin Specific Peptidase 54

(Previous names: chromosome 10 open reading frame 29, ubiquitin specific...)
(Previous symbol: C10orf29)
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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 541 2     bA137L10.32
C10orf291 2 3     bA137L10.42
Ubiquitin Specific Protease 541 2     Inactive Ubiquitin Carboxyl-Terminal Hydrolase 542
Inactive Ubiquitin-Specific Peptidase 542 3     Ubiquitin Specific Proteinase 542
Chromosome 10 Open Reading Frame 291     

External Ids:    HGNC: 235131   Entrez Gene: 1591952   Ensembl: ENSG000001663487   UniProtKB: Q70EL13   

Export aliases for USP54 gene to outside databases

Previous GC identifers: GC10M074601 GC10M074602 GC10M074927 GC10M069250


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for USP54 Gene:
USP54 (ubiquitin specific peptidase 54) is a protein-coding gene. GO annotations related to this gene include ubiquitin thiolesterase activity. An important paralog of this gene is USP53.

UniProtKB/Swiss-Prot: UBP54_HUMAN, Q70EL1
Function: Has no peptidase activity




(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_000010.10  NT_030059.14  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the USP54 gene promoter:
         Bach1   NF-1   AML1a   POU6F1 (c2)   C/EBPalpha   E47   GATA-1   c-Rel   GATA-6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUSP54 promoter sequence
   Search Chromatin IP Primers for USP54

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat USP54


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

Entrez Gene cytogenetic band: 10q22.2   Ensembl cytogenetic band:  10q22.2   HGNC cytogenetic band: 10q22.3

USP54 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
USP54 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M075257:  view genomic region     (about GC identifiers)

Start:
75,257,296 bp from pter      End:
75,385,711 bp from pter
Size:
128,416 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: UBP54_HUMAN, Q70EL1 (See protein sequence)
Recommended Name: Inactive ubiquitin carboxyl-terminal hydrolase 54  
Size: 1684 amino acids; 187388 Da
Caution: Although the active site residues are conserved, it lacks the conserved His residue which is normally
found 9 residues before the catalytic His
Sequence caution: Sequence=BAC04393.1; Type=Erroneous initiation; Sequence=BAG53943.1; Type=Erroneous initiation;
Sequence=BX649087; Type=Frameshift; Positions=508; Sequence=CAO03507.1; Type=Erroneous gene model prediction;
Sequence=CAO03508.1; Type=Erroneous gene model prediction; Sequence=CAO03509.1; Type=Erroneous gene model
prediction;
Secondary accessions: A1L4Q4 A3KFK3 A3KFK5 A3KFK6 A3KFK7 A6PVS4 A6PVS5 A6PVS6 A6PVS7 B3KVY1
B9ZVM1 Q5F2F4 Q6P1N6 Q6ZSP1 Q6ZSR1 Q6ZTM0 Q8N1X2
Alternative splicing: 7 isoforms:  Q70EL1-1   Q70EL1-4   Q70EL1-6   Q70EL1-7   Q70EL1-8   Q70EL1-9   Q70EL1-10   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for USP54: NX_Q70EL1

Explore proteomics data for USP54 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys1236
  • Modification sites at PhosphoSitePlus

  • See USP54 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_689799.3  
    ENSEMBL proteins: 
     ENSP00000404644   ENSP00000473466   ENSP00000399972   ENSP00000345216   ENSP00000402435  
     ENSP00000404710   ENSP00000407245   ENSP00000386080   ENSP00000408714   ENSP00000407368  
     ENSP00000378290   ENSP00000326547  

    USP54 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for USP54
    GenScript Custom Purified and Recombinant Proteins Services for USP54
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for USP54

     
    Search eBioscience for Proteins for USP54 

     
    Search antibodies-online for proteins for USP54 

     
    Search antibodies-online for peptides for USP54

    USP54 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    OriGene Antibodies for USP54
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    Novus Biologicals USP54 Antibody
    Abcam antibodies for USP54
    Cloud-Clone Corp. Antibodies for USP54
    Search ThermoFisher Antibodies for USP54
    antibodies-online antibodies for USP54 (2 products) 

    USP54 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for USP54
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for USP54
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for USP54
    Cloud-Clone Corp. CLIAs for USP54
    Search eBioscience for ELISAs for USP54 
    antibodies-online kits for USP54 (6 products) 


    (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

    2 InterPro protein domains:
     IPR001394 Peptidase_C19_UCH
     IPR028889 UCH/PAN2

    Graphical View of Domain Structure for InterPro Entry Q70EL1

    ProtoNet protein and cluster: Q70EL1

    1 Blocks protein domain: IPB001394 Ubiquitin thiolesterase

    UniProtKB/Swiss-Prot: UBP54_HUMAN, Q70EL1
    Similarity: Belongs to the peptidase C19 family
    Similarity: Contains 1 USP domain


    Find genes that share domains with USP54           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: UBP54_HUMAN, Q70EL1
    Function: Has no peptidase activity

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004221ubiquitin thiolesterase activity ----
    GO:0005515protein binding IPI16713569
         
    Find genes that share ontologies with USP54           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for USP54:
     Decreased Hepatitis C virus re 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for USP54

    miRNA
    Products:
        
    miRTarBase miRNAs that target USP54:
    hsa-mir-215-5p (MIRT024483), hsa-mir-1303 (MIRT035898), hsa-let-7b-5p (MIRT052169), hsa-mir-192-5p (MIRT026658)

    Block miRNA regulation of human, mouse, rat USP54 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate USP54 (see all 31):
    hsa-miR-345 hsa-miR-4307 hsa-miR-3152-3p hsa-miR-607 hsa-miR-520d-5p hsa-miR-106a hsa-miR-1285 hsa-miR-3921
    SwitchGear 3'UTR luciferase reporter plasmidUSP54 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for USP54
    Predesigned siRNA for gene silencing in human, mouse, rat USP54

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for USP54

    Clone
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    OriGene clones in human, mouse for USP54 (see all 7)
    OriGene ORF clones in mouse, rat for USP54
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: USP54 (NM_152586)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for USP54
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat USP54

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for USP54
    Browse ESI BIO Cell Lines and PureStem Progenitors for USP54 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for USP54


    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    mitochondrion1

    (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 USP54 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 USP54
        Ubiquitin-Proteasome Dependent Proteolysis


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for USP54
    Interactions:

        Search GeneGlobe Interaction Network for USP54

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    Selected Interacting proteins for USP54 (Q70EL11, 2, 3 ENSP000003452164) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN1P542531, 3, ENSP000002447694EBI-946185,EBI-930964 I2D: score=2 STRING: ENSP00000244769
    CHMP1AQ9HD422, 3, ENSP000002534754MINT-6946930 I2D: score=1 STRING: ENSP00000253475
    CHMP2AO436332, 3, ENSP000003104404MINT-6947279 I2D: score=1 STRING: ENSP00000310440
    CHMP4AQ9BY432, 3, ENSP000003242054MINT-6947321 I2D: score=1 STRING: ENSP00000324205
    CHMP4BQ9H4442, 3, ENSP000002174024MINT-6947335 I2D: score=1 STRING: ENSP00000217402
    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 USP54           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 USP54 (UBP54)



    (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 USP54 gene: 
    NM_152586.3  

    Unigene Cluster for USP54:

    Ubiquitin specific peptidase 54
    Hs.657355  [show with all ESTs]
    Unigene Representative Sequence: NM_152586
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000418501 ENST00000466048 ENST00000424265(uc001jul.3) ENST00000339859(uc010qkk.2 uc001juk.3 uc001jum.3 uc001jun.3 uc001juo.3)
    ENST00000497106 ENST00000464635 ENST00000498143(uc001jup.3) ENST00000480210
    ENST00000461520(uc001juq.1) ENST00000451492 ENST00000492357 ENST00000481991
    ENST00000413442 ENST00000433394 ENST00000498213 ENST00000474929 ENST00000408019
    ENST00000428547
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat USP54 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate USP54 (see all 31):
    hsa-miR-345 hsa-miR-4307 hsa-miR-3152-3p hsa-miR-607 hsa-miR-520d-5p hsa-miR-106a hsa-miR-1285 hsa-miR-3921
    SwitchGear 3'UTR luciferase reporter plasmidUSP54 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for USP54
    Predesigned siRNA for gene silencing in human, mouse, rat USP54
    Clone
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    OriGene clones in human, mouse for USP54 (see all 7)
    OriGene ORF clones in mouse, rat for USP54
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: USP54 (NM_152586)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for USP54
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat USP54
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for USP54
    OriGene qSTAR qPCR primer pairs in human, mouse for USP54
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat USP54
      QuantiTect SYBR Green Assays in human, mouse, rat USP54
      QuantiFast Probe-based Assays in human, mouse, rat USP54

    Additional mRNA sequence: 

    AK094637.1 AK123711.1 AK126497.1 AK127213.1 AK127267.1 AK302598.1 AK303633.1 AL832102.1 
    BC026037.1 BC064967.1 BC110845.1 BC130633.1 BX649087.1 

    12 DOTS entries:

    DT.204224  DT.100024157  DT.95295364  DT.100024156  DT.100657930  DT.95250633  DT.40128157  DT.91997313 
    DT.95094209  DT.97827066  DT.40263243  DT.121289482 

    Selected AceView cDNA sequences (see all 83):

    AA806114 AK127213 AK127267 CD637891 BF001677 AJ583820 BQ081855 BQ877017 
    BG995241 BC026037 AI249498 AW501401 BQ709847 BG060078 BE301605 NM_152586 
    BQ677504 BU507701 BC064967 AK094637 AK126497 AK123711 CD517633 BF154705 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for USP54 (see all 10)    About this scheme

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

    ExUns: 18b · 18c ^ 19a · 19b ^ 20a · 20b ^ 21a · 21b ^ 22a · 22b ^ 23 ^ 24a · 24b · 24c
    SP1:                                                                                    
    SP2:  -     -                                         -     -                           
    SP3:                                                                                    
    SP4:                                                  -                                 
    SP5:                                                                                    


    ECgene alternative splicing isoforms for USP54

    (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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    USP54 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    USP54 Expression
    About this image

    USP54 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    USP54 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.657355

    UniProtKB/Swiss-Prot: UBP54_HUMAN, Q70EL1
    Tissue specificity: Weakly expressed in a few tissues

        Custom PCR Arrays for USP54
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for USP54
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat USP54
    QuantiTect SYBR Green Assays in human, mouse, rat USP54
    QuantiFast Probe-based Assays in human, mouse, rat USP54
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for USP54

    (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.

    Orthologs for USP54 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Usp541 , 5 ubiquitin specific peptidase 541, 5 83.75(n)1
    79.52(a)1
      14 (11.53 cM)5
    787871  NM_030180.21  NP_084456.21 
     205489125 
    chicken
    (Gallus gallus)
    Aves USP541 ubiquitin specific peptidase 54 67.65(n)
    63.47(a)
      423746  XM_004942086.1  XP_004942143.1 
    lizard
    (Anolis carolinensis)
    Reptilia USP546
    ubiquitin specific peptidase 54
    57(a)
    1 ↔ 1
    GL343196.1(917664-1004669)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia usp541 ubiquitin specific peptidase 54 61.45(n)
    57.57(a)
      100497431  XM_002935765.2  XP_002935811.2 
    zebrafish
    (Danio rerio)
    Actinopterygii usp54a1 ubiquitin specific peptidase 54a 65.98(n)
    67.49(a)
      563912  NM_001201566.1  NP_001188495.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ec6
    echinus
    15(a)
    1 → many
    X(3705684-3751658)


    ENSEMBL Gene Tree for USP54 (if available)
    TreeFam Gene Tree for USP54 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for USP54 gene
    USP532  
    1 SIMAP similar gene for USP54 using alignment to 6 protein entries:     UBP54_HUMAN (see all proteins):
    USP53

    Find genes that share paralogs with USP54           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 USP54 (see all 1544)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0363604
    A breast cancer sample4--see VAR_0363602 L V mis40--------
    rs1821023211,2
    --75258008(+) ACCAAC/TGCTGC 1 -- ut310--------
    rs586627991,2
    C,F--75258057(+) TGAGAG/TGGAGT 1 -- ut311Minor allele frequency- T:0.50CSA 2
    rs1425824941,2
    --75258129(+) CCCGGA/GTTCAA 1 -- ut310--------
    rs1862340441,2
    --75258190(+) CGTCAC/TGCCTG 1 -- ut310--------
    rs29901391,2
    C--75258323(+) cactgC/Tgcccg 1 -- ut310--------
    rs2009915131,2
    C--75258340(+) AGTACA/GGTTTT 1 -- ut310--------
    rs1427659621,2
    C,F--75258428(+) CTGCTC/GTCTTC 2 Q E mis12Minor allele frequency- G:0.00NA EU 5873
    rs413150121,2
    C,F--75258437(+) TCTGGG/AAGCAT 2 /P /S mis12Minor allele frequency- A:0.00NA EU 5873
    rs1174297931,2
    C,F--75258443(+) AGCATC/TTGATA 2 N D mis12Minor allele frequency- T:0.00NA EU 5873

    HapMap Linkage Disequilibrium report for USP54 (75257296 - 75385711 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for USP54:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2430194CNV Deletion19546169

    Human Gene Mutation Database (HGMD): USP54
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing USP54
    DNA2.0 Custom Variant and Variant Library Synthesis for USP54

    (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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    Find genes that share disorders with USP54           About GenesLikeMe

    Genetic Association Database (GAD): USP54
    Human Genome Epidemiology (HuGE) Navigator: USP54 (1 document)

    Export disorders for USP54 gene to outside databases

    (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 USP54 gene, integrated from 10 sources (see all 17):
    (articles sorted by number of sources associating them with USP54)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and enzymatic analysis of 22 novel human ubiquitin-specific proteases. (PubMed id 14715245)1, 2, 3 Quesada V.... Lopez-Otin C. (Biochem. Biophys. Res. Commun. 2004)
    2. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (Am. J. Hum. Genet. 2006)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (Nature 2004)
    5. Protein interaction network of the mammalian Hippo pathway reveals mechanisms of kinase-phosphatase interactions. (PubMed id 24255178)1 Couzens A.L....Gingras A.C. (Sci Signal 2013)
    6. Activity-based chemical proteomics accelerates inhibitor development for deubiquitylating enzymes. (PubMed id 22118674)1 Altun M....Kessler B.M. (amp 2011)
    7. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    8. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    9. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    10. Ab initio protein modelling reveals novel human MIT domains. (PubMed id 19302785)1 Rigden D.J....Clague M.J. (FEBS Lett. 2009)

    (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: 159195 HGNC: 23513 AceView: USP54 Ensembl:ENSG00000166348 euGenes: HUgn159195
    ECgene: USP54 H-InvDB: USP54

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for USP54 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 USP54 gene:
    Search GeneIP for patents involving USP54

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



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