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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

USP19 Gene

protein-coding   GIFtS: 58
GCID: GC03M049120

Ubiquitin Specific Peptidase 19

(Previous name: ubiquitin specific protease 19)
Microbiology & Infectious Diseases Congress
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Ubiquitin Specific Peptidase 191 2     ZMYND92 3
Ubiquitin Specific Protease 191 2     Ubiquitin Carboxyl-Terminal Hydrolase 192
Deubiquitinating Enzyme 192 3     Ubiquitin Thiolesterase 192
Ubiquitin Thioesterase 192 3     EC 3.4.19.123
Ubiquitin-Specific-Processing Protease 192 3     KIAA08913
Zinc Finger MYND Domain-Containing Protein 92 3     EC 3.1.2.158

External Ids:    HGNC: 126171   Entrez Gene: 108692   Ensembl: ENSG000001720467   OMIM: 6144715   UniProtKB: O949663   

Export aliases for USP19 gene to outside databases

Previous GC identifers: GC03P046927 GC03P048487 GC03M048999 GC03M049104


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for USP19 Gene: 
USP19 (ubiquitin specific peptidase 19) is a protein-coding gene. Diseases associated with USP19 include hypoxia. GO annotations related to this gene include ubiquitin-specific protease activity and ubiquitin thiolesterase activity. An important paralog of this gene is USP45.

UniProtKB/Swiss-Prot: UBP19_HUMAN, O94966
Function: Deubiquitinating enzyme that regulates the degradation of various proteins. Deubiquitinates and prevents
proteasomal degradation of RNF123 which in turn stimulates CDKN1B ubiquitin-dependent degradation thereby playing
a role in cell proliferation. Involved in decreased protein synthesis in atrophying skeletal muscle. Modulates
transcription of major myofibrillar proteins. Also involved in turnover of endoplasmic-reticulum-associated
degradation (ERAD) substrates. Regulates the stability of BIRC2/c-IAP1 and BIRC3/c-IAP2 by preventing their
ubiquitination. Required for cells to mount an appropriate response to hypoxia and rescues HIF1A from degradation
in a non-catalytic manner. Plays an important role in 17 beta-estradiol (E2)-inhibited myogenesis. Decreases the
levels of ubiquitinated proteins during skeletal muscle formation and acts to repress myogenesis. Exhibits a
preference towards 'Lys-63'-linked Ubiquitin chains




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_022517.18  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the USP19 gene promoter:
         E2F-4   E2F-3a   Max   E2F   E2F-1   E2F-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUSP19 promoter sequence
   Search SABiosciences Chromatin IP Primers for USP19

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat USP19


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

Entrez Gene cytogenetic band: 3p21.31   Ensembl cytogenetic band:  3p21.31   HGNC cytogenetic band: 3p21.31

USP19 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
USP19 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M049120:  view genomic region     (about GC identifiers)

Start:
49,145,479 bp from pter      End:
49,158,371 bp from pter
Size:
12,893 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: UBP19_HUMAN, O94966 (See protein sequence)
Recommended Name: Ubiquitin carboxyl-terminal hydrolase 19  
Size: 1318 amino acids; 145651 Da
Subunit: Interacts with RNF123 (By similarity). Interacts with BIRC2/c-IAP1, BIRC3/c-IAP2 and XIAP/BIRC4.
Interacts with HIF1A (via N-terminus)
Subcellular location: Endoplasmic reticulum membrane; Single-pass membrane protein
Sequence caution: Sequence=AAI06030.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=AAI06030.1; Type=Frameshift; Positions=572; Sequence=AAI42661.1; Type=Erroneous initiation;
Note=Translation N-terminally shortened; Sequence=BAA74914.1; Type=Erroneous initiation; Note=Translation
N-terminally shortened;
1 PDB 3D structure from and Proteopedia for USP19:
1WH0 (3D)    
Secondary accessions: A5PKX8 A6H8U2 B4DGT3 B4DTZ0 E7EN22 E7ETS0 E9PEG8 Q3KQW4 Q641Q9 Q6NZY8
Q86XV9
Alternative splicing: 7 isoforms:  O94966-1   O94966-2   O94966-3   O94966-4   O94966-5   O94966-6   O94966-7   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for USP19: NX_O94966

Explore proteomics data for USP19 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O94966

  • 4/11 DME Specific Peptides for USP19 (O94966) (see all 11)
     GLVNLGN  FLLDGLH  IVDLFQG  NSVIQSL 

    USP19 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    USP19 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001186089.1  NP_001186090.1  NP_001186091.1  NP_006668.1  

    ENSEMBL proteins: 
     ENSP00000381870   ENSP00000381872   ENSP00000395260   ENSP00000400090   ENSP00000381867  
     ENSP00000381863   ENSP00000401197   ENSP00000303503   ENSP00000428539  

    Human Recombinant Protein Products for USP19: 
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    Novus Biologicals USP19 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for USP19 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane IDA19465887
    GO:0005829cytosol IEA--
    GO:0016021integral to membrane IEA--

    USP19 for ontologies           About GeneDecksing



    USP19 Antibody Products: 
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    Cloud-Clone Corp. ELISAs for USP19 
    Cloud-Clone Corp. CLIAs for USP19


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ZMYND: Zinc fingers, MYND-type
    USP: Ubiquitin-specific peptidases

    5/7 InterPro protein domains (see all 7):
     IPR002893 Znf_MYND
     IPR015054 DUF1872
     IPR001394 Peptidase_C19
     IPR008978 HSP20-like_chaperone
     IPR017447 CS_domain

    Graphical View of Domain Structure for InterPro Entry O94966

    ProtoNet protein and cluster: O94966

    2 Blocks protein domains:
    IPB001394 Ubiquitin thiolesterase
    IPB002893 Zn-finger


    UniProtKB/Swiss-Prot: UBP19_HUMAN, O94966
    Similarity: Belongs to the peptidase C19 family
    Similarity: Contains 2 CS domains
    Similarity: Contains 1 MYND-type zinc finger


    USP19 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UBP19_HUMAN, O94966
    Function: Deubiquitinating enzyme that regulates the degradation of various proteins. Deubiquitinates and prevents
    proteasomal degradation of RNF123 which in turn stimulates CDKN1B ubiquitin-dependent degradation thereby playing
    a role in cell proliferation. Involved in decreased protein synthesis in atrophying skeletal muscle. Modulates
    transcription of major myofibrillar proteins. Also involved in turnover of endoplasmic-reticulum-associated
    degradation (ERAD) substrates. Regulates the stability of BIRC2/c-IAP1 and BIRC3/c-IAP2 by preventing their
    ubiquitination. Required for cells to mount an appropriate response to hypoxia and rescues HIF1A from degradation
    in a non-catalytic manner. Plays an important role in 17 beta-estradiol (E2)-inhibited myogenesis. Decreases the
    levels of ubiquitinated proteins during skeletal muscle formation and acts to repress myogenesis. Exhibits a
    preference towards 'Lys-63'-linked Ubiquitin chains
    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)

         Genatlas biochemistry entry for USP19:
    putative ubiquitin specific protease 19,deubiquitin enzyme family

         Enzyme Numbers (IUBMB): EC 3.1.2.152 EC 3.4.19.121

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004221ubiquitin thiolesterase activity IEA--
    GO:0004843ubiquitin-specific protease activity IDA19465887
    GO:0005515protein binding IPI--
    GO:0008234cysteine-type peptidase activity ----
    GO:0008270zinc ion binding ----
         
    USP19 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for USP19:
     Decreased viability of wild-ty 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for USP19 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for USP19

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for USP19 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for USP19 

    miRNA
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    8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate USP19 (see all 12):
    hsa-miR-3163 hsa-miR-492 hsa-miR-15a hsa-miR-497 hsa-miR-4282 hsa-miR-424 hsa-miR-3613-3p hsa-miR-3649
    SwitchGear 3'UTR luciferase reporter plasmidUSP19 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 4): USP19 (NM_001199162)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for USP19
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                         Customized lentivirus expression plasmids for stable overexpression of USP19 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for USP19


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for USP19 About                                                                                                See pathways by source

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

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for USP19
        Ubiquitin-Proteasome Dependent Proteolysis


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for USP19

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

    5/54 Interacting proteins for USP19 (O949662, 3 ENSP000003818634) via UniProtKB, MINT, STRING, and/or I2D (see all 54)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CFTRP135692, 3, ENSP000000030844MINT-7218998 I2D: score=1 STRING: ENSP00000003084
    CANXP278242, 3, ENSP000002474614MINT-7218984 I2D: score=1 STRING: ENSP00000247461
    PTCRAQ6ISU12, 3, ENSP000003044474MINT-7219035 I2D: score=1 STRING: ENSP00000304447
    ACADSBP459543, ENSP000003578734I2D: score=2 STRING: ENSP00000357873
    ATAD1Q8NBU53, ENSP000003390164I2D: score=2 STRING: ENSP00000339016
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006511ubiquitin-dependent protein catabolic process ----
    GO:0014732skeletal muscle atrophy ISS--
    GO:0016579protein deubiquitination ISS--
    GO:0030433ER-associated protein catabolic process IDA19465887
    GO:0031647regulation of protein stability ISS--

    USP19 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for USP19 (UBP19)

    Search CenterWatch for drugs/clinical trials and news about USP19 / UBP19

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for USP19 gene (4 alternative transcripts): 
    NM_001199160.1  NM_001199161.1  NM_001199162.1  NM_006677.2  

    Unigene Cluster for USP19:

    Ubiquitin specific peptidase 19
    Hs.255596  [show with all ESTs]
    Unigene Representative Sequence: NM_001199161
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000398896 ENST00000398898 ENST00000417901(uc003cwa.3) ENST00000453664(uc003cvz.4 uc011bcg.2 uc003cwb.3 uc011bci.2)
    ENST00000398892(uc003cwc.2) ENST00000398888(uc003cwd.2) ENST00000434032(uc011bch.2)
    ENST00000483667 ENST00000306026 ENST00000464931 ENST00000479073 ENST00000488993
    ENST00000480163 ENST00000491859 ENST00000465902
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate USP19 (see all 12):
    hsa-miR-3163 hsa-miR-492 hsa-miR-15a hsa-miR-497 hsa-miR-4282 hsa-miR-424 hsa-miR-3613-3p hsa-miR-3649
    SwitchGear 3'UTR luciferase reporter plasmidUSP19 3' UTR sequence
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    Additional mRNA sequence: 

    AB020698.1 AK294756.1 AK296447.1 AK300425.1 BC014934.1 BC048269.1 BC065909.1 BC082241.1 
    BC127009.1 BC142660.1 BC142727.1 BC146752.1 EF036501.1 

    5 DOTS entries:

    DT.100751628  DT.212382  DT.443067  DT.95085278  DT.92026854 

    24/190 AceView cDNA sequences (see all 190):

    AB020698 R71807 BQ932191 BF941731 AW451502 BG025097 AI200125 CA390387 
    BQ440780 BC048269 AW007206 BG029242 BX956761 BM129503 CF125439 BM477264 
    BM967194 AI784036 AI124644 AA806467 BC065909 BM802653 AW297009 CK821110 

    GeneLoc Exon Structure

    5/15 Alternative Splicing Database (ASD) splice patterns (SP) for USP19 (see all 15)    About this scheme

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

    ExUns: 14b · 14c ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24a · 24b ^ 25a · 25b ^ 26a · 26b ^ 27 ^ 28 ^ 29
    SP1:                                                                                                                                          
    SP2:                                                                                                                                          
    SP3:                                                                                                                                          
    SP4:                                                                                                                                -         
    SP5:                                                                                                                                          


    ECgene alternative splicing isoforms for USP19

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    USP19 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    USP19 Expression
    About this image


    See USP19 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for USP19

    SOURCE GeneReport for Unigene cluster: Hs.255596
        SABiosciences Custom PCR Arrays for USP19
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    In Situ
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    (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)
    About This Section

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

    Orthologs for USP19 gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Usp191 , 5 ubiquitin specific peptidase 191, 5 88.03(n)1
    90.93(a)1
      9 (59.42 cM)5
    714721  NM_027804.41  NP_082080.31 
     1084906765 
    chicken
    (Gallus gallus)
    Aves LOC1008587271 ubiquitin carboxyl-terminal hydrolase 19-like 71.22(n)
    72.19(a)
      100858727  XM_003642004.1  XP_003642052.1 
    lizard
    (Anolis carolinensis)
    Reptilia USP196
    ubiquitin specific peptidase 19
    65(a)
    1 ↔ 1
    2(188334604-188378034)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia 1377213252   -- 74.76(n)    137721325 
    zebrafish
    (Danio rerio)
    Actinopterygii BG729270.12   -- 78.84(n)    BG729270.1 
    worm
    (Caenorhabditis elegans)
    Secernentea H34C03.23 ubiquitin carboxy-terminal hydrolase 51(a)
    (best of 2)
      IV(6757531-6761964)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes UBP126
    Ubiquitin carboxyl-terminal hydrolase, ubiquitin-s...
    19(a)
    1 → many
    X(63805-67569)


    ENSEMBL Gene Tree for USP19 (if available)
    TreeFam Gene Tree for USP19 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for USP19 gene
    USP452  USP62  USP152  USP112  USP162  USP312  USP432  USP322  
    USP42  
    4 SIMAP similar genes for USP19 using alignment to 7 protein entries:     UBP19_HUMAN (see all proteins):
    USP15    DKFZp761E10121    USP11    USP3

    USP19 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/367 SNPs in USP19 are shown (see all 367)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs49554111,2
    C,F,H--49145304(-) CAGCTC/TTTTGG 2 -- int121Minor allele frequency- T:0.22NS EA NA WA CSA 2021
    rs1462310531,2
    --49145322(+) TGGGGA/GCTTCA 2 -- int10--------
    rs1400795071,2
    --49145393(+) GTCTCC/TCATAT 2 -- int10--------
    rs2006895791,2
    --49145544(+) AATGC-/AAAAAA 2 -- ut310--------
    rs146441,2
    A,H--49145614(+) GTACAA/TCAGAA 4 -- int1 ut317Minor allele frequency- T:0.00MN NS EA NA 489
    rs32121,2
    C,F,O,A,H--49145741(+) TCCCAC/TTGACA 4 -- int1 ut31 ese329Minor allele frequency- T:0.31MN NA NS EA WA CSA 2866
    rs729368201,2
    C--49146258(+) GGGGCG/CACAAC 4 -- ut31 int11Minor allele frequency- C:0.50WA 2
    rs2018345591,2
    C--49146401(+) TCCAGC/TGACTC 6 H R mis1 int11Minor allele frequency- T:0.00EU 653
    rs1420373821,2
    C--49146469(+) CCCAGC/GACAAA 6 V syn1 int10--------
    rs799655141,2
    C--49146612(+) AATCCG/AGGAAG 6 /R /W mis1 int11Minor allele frequency- A:0.01EA 120

    HapMap Linkage Disequilibrium report for USP19 (49145479 - 49158371 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for USP19:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv834686CNV Loss17160897
    nsv876764CNV Loss21882294
    nsv876765CNV Loss21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 614471    OMIM disorders: --

    2 diseases for USP19:    About MalaCards
    hypoxia    


    USP19 for disorders           About GeneDecksing


    Export disorders for USP19 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)
    About This Section

    PubMed articles for USP19 gene, integrated from 9 sources (see all 30):
    (articles sorted by number of sources associating them with USP19)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Ubiquitin-specific protease 19 (USP19) regulates hypoxia-inducible factor 1alpha (HIF-1alpha) during hypoxia. (PubMed id 22128162)1, 2 Altun M.... Lindsten K. (2012)
    2. The USP19 deubiquitinase regulates the stability of c -IAP1 and c-IAP2. (PubMed id 21849505)1, 2 Mei Y....Yang X. (2011)
    3. The ER-resident ubiquitin-specific protease 19 partic ipates in the UPR and rescues ERAD substrates. (PubMed id 19465887)1, 2 Hassink G.C....Lindsten K. (2009)
    4. Human and mouse proteases: a comparative genomic approach. (PubMed id 12838346)1, 3 Puente X.S.... Lopez-Otin C. (2003)
    5. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10048485)1, 2 Nagase T....Ohara O. (1998)
    6. An N-terminal SIAH-interacting motif regulates the sta bility of the ubiquitin specific protease (USP)-19. (PubMed id 23500468)1 Velasco K....Lindsten K. (2013)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    8. Profiling ubiquitin linkage specificities of deubiquitinating enzymes with branched ubiquitin isopeptide probes. (PubMed id 22689415)2 Iphofer A.... Franke R. (2012)
    9. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)
    10. Viral immune modulators perturb the human molecular ne twork by common and unique strategies. (PubMed id 22810585)1 Pichlmair A....Superti-Furga G. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 10869 HGNC: 12617 AceView: USP19 Ensembl:ENSG00000172046 euGenes: HUgn10869
    ECgene: USP19 H-InvDB: USP19

    (According to HUGE)
    About This Section
    HUGE: KIAA0891

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for USP19 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for USP19 gene:
    Search GeneIP for patents involving USP19

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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