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UBA5 Gene

protein-coding   GIFtS: 55
GCID: GC03P132373

Ubiquitin-Like Modifier Activating Enzyme 5

(Previous name: ubiquitin-activating enzyme E1-domain containing 1)
(Previous symbol: UBE1DC1)
  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)
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Aliases
Ubiquitin-Like Modifier Activating Enzyme 51 2     UBA51
UBE1DC11 2 3 5     Ubiquitin-Activating Enzyme E1 Homolog (Yeast)1
Ubiquitin-Activating Enzyme E1-Domain Containing 11 2     THIFP12
Ubiquitin-Activating Enzyme 52 3     UBA5, Ubiquitin-Activating Enzyme E1 Homolog2
Ubiquitin-Activating Enzyme E1 Domain-Containing Protein 12 3     Ubiquitin-Like Modifier-Activating Enzyme 52
UFM1-Activating Enzyme2 3     ThiFP13

External Ids:    HGNC: 232301   Entrez Gene: 798762   Ensembl: ENSG000000813077   OMIM: 6105525   UniProtKB: Q9GZZ93   

Export aliases for UBA5 gene to outside databases

Previous GC identifers: GC03P133862 GC03P129753


(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 UBA5 Gene:
This gene encodes a member of the E1-like ubiquitin-activating enzyme family. This protein activates
ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein, via the formation of a
high-energy thioester bond. Two alternatively spliced transcript variants encoding distinct isoforms have been
found for this gene. A pseudogene located on chromosome 1 has also been identified. (provided by RefSeq, Jul
2008)

GeneCards Summary for UBA5 Gene:
UBA5 (ubiquitin-like modifier activating enzyme 5) is a protein-coding gene. Diseases associated with UBA5 include malaria. GO annotations related to this gene include UFM1 activating enzyme activity and cofactor binding. An important paralog of this gene is MOCS3.

UniProtKB/Swiss-Prot: UBA5_HUMAN, Q9GZZ9
Function: E1-like enzyme which activates UFM1 and SUMO2

Gene Wiki entry for UBA5 (UBE1DC1) 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:
NC_000003.12  NT_005612.17  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the UBA5 gene promoter:
         Pbx1a   STAT3   RelA   NF-kappaB   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUBA5 promoter sequence
   Search Chromatin IP Primers for UBA5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UBA5


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

Entrez Gene cytogenetic band: 3q22.1   Ensembl cytogenetic band:  3q22.1   HGNC cytogenetic band: 3q22

UBA5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UBA5 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P132373:  view genomic region     (about GC identifiers)

Start:
132,373,290 bp from pter      End:
132,396,944 bp from pter
Size:
23,655 bases      Orientation:
plus 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: UBA5_HUMAN, Q9GZZ9 (See protein sequence)
Recommended Name: Ubiquitin-like modifier-activating enzyme 5  
Size: 404 amino acids; 44863 Da
2 PDB 3D structures from and Proteopedia for UBA5:
3GUC (3D)        3H8V (3D)    
Secondary accessions: A6NJL3 D3DNC8 Q96ST1
Alternative splicing: 2 isoforms:  Q9GZZ9-1   Q9GZZ9-2   

Explore the universe of human proteins at neXtProt for UBA5: NX_Q9GZZ9

Explore proteomics data for UBA5 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See UBA5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_079094.1  NP_938143.1  

    ENSEMBL proteins: 
     ENSP00000348565   ENSP00000417879   ENSP00000418569   ENSP00000424984   ENSP00000418807  
     ENSP00000427233   ENSP00000420055   ENSP00000417905   ENSP00000264991  
    Reactome Protein details: Q9GZZ9

    UBA5 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
    OriGene Purified Protein for UBA5
    OriGene Protein Over-expression Lysate for UBA5
    OriGene MassSpec for UBA5
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    Novus Biologicals UBA5 Proteins
    Novus Biologicals UBA5 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for UBA5
    Cloud-Clone Corp. Proteins for UBA5

    UBA5 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of UBA5
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    Search for Antibodies for UBA5 at Abcam
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    ThermoFisher Antibodies for UBA5
    LSBio Antibodies in human, mouse, rat for UBA5

    UBA5 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for UBA5
    Cloud-Clone Corp. CLIAs for UBA5


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    UBE1: Ubiquitin-like modifier activating enzymes

    4 InterPro protein domains:
     IPR006140 D-isomer_2_OHA_DH_NAD-bd
     IPR009036 Molybdenum_cofac_synth_MoeB
     IPR000594 ThiF_NAD_FAD-bd
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q9GZZ9

    ProtoNet protein and cluster: Q9GZZ9

    1 Blocks protein domain: IPB000594 UBA/THIF-type NAD/FAD binding fold

    UniProtKB/Swiss-Prot: UBA5_HUMAN, Q9GZZ9
    Similarity: Belongs to the ubiquitin-activating E1 family. UBA5 subfamily


    UBA5 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UBA5_HUMAN, Q9GZZ9
    Function: E1-like enzyme which activates UFM1 and SUMO2

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0005515protein binding IPI16189514
    GO:0005524ATP binding IEA--
    GO:0016616oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IEA--
    GO:0046872metal ion binding IEA--
         
    UBA5 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for UBA5:
     Increased cell death HMECs cel 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Uba5):
     mortality/aging 

    UBA5 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Uba5tm1Kmts for UBA5

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for UBA5
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for UBA5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for UBA5
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for UBA5

    miRNA
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    Block miRNA regulation of human, mouse, rat UBA5 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate UBA5:
    hsa-miR-409-3p hsa-miR-18b* hsa-miR-455-3p
    SwitchGear 3'UTR luciferase reporter plasmidUBA5 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for UBA5
    Predesigned siRNA for gene silencing in human, mouse, rat UBA5

    Gene Editing
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    OriGene ORF clones in mouse, rat for UBA5
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): UBA5 (NM_001033930)
    Sino Biological Human cDNA Clone for UBA5
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UBA5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UBA5

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for UBA5 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBA5


    (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
    UBA5_HUMAN, Q9GZZ9: Cytoplasm. Nucleus. Note=Localizes mainly in cytoplasm, while it mainly localizes to the
    nucleus in presence of SUMO2
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    endoplasmic reticulum1
    mitochondrion1
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IDA--
    GO:0016235aggresome ----
    GO:0043231intracellular membrane-bounded organelle IDA--

    UBA5 for ontologies           About GeneDecksing


    (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 UBA5 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Class I MHC mediated antigen processing and presentation
    Class I MHC mediated antigen processing and presentation0.84
    Adaptive Immune System0.41
    Antigen processing- Ubiquitination and Proteasome degradation0.84

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for UBA5
        Ubiquitin-Proteasome Dependent Proteolysis
    Remodeling of Adherens Junctions


    1 Reactome Pathway for UBA5
        Antigen processing: Ubiquitination & Proteasome degradation



    UBA5 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including UBA5: 
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat
              Cardiotoxicity in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for UBA5

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

    Selected Interacting proteins for UBA5 (Q9GZZ91, 2, 3 ENSP000003485654) via UniProtKB, MINT, STRING, and/or I2D (see all 1216)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000183311P074372, 3MINT-7945693 MINT-7947479 I2D: score=1 
    ENSG00000224156P074372, 3MINT-7945693 MINT-7947479 I2D: score=1 
    ENSG00000227739P074372, 3MINT-7945693 MINT-7947479 I2D: score=1 
    ENSG00000229684P074372, 3MINT-7945693 MINT-7947479 I2D: score=1 
    ENSG00000232421P074372, 3MINT-7945693 MINT-7947479 I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0034976response to endoplasmic reticulum stress IDA--
    GO:0071569protein ufmylation IMP--

    UBA5 for ontologies           About GeneDecksing



    (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 UBA5



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for UBA5 gene (2 alternative transcripts): 
    NM_024818.3  NM_198329.2  

    Unigene Cluster for UBA5:

    Ubiquitin-like modifier activating enzyme 5
    Hs.170737  [show with all ESTs]
    Unigene Representative Sequence: NM_024818
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000356232(uc003epa.4) ENST00000480955(uc010hts.1) ENST00000493720
    ENST00000468022 ENST00000464101 ENST00000473651 ENST00000494238 ENST00000505777
    ENST00000464068 ENST00000489361 ENST00000468227 ENST00000469158 ENST00000494112
    ENST00000264991(uc010htr.3 uc003epb.4)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat UBA5 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate UBA5:
    hsa-miR-409-3p hsa-miR-18b* hsa-miR-455-3p
    SwitchGear 3'UTR luciferase reporter plasmidUBA5 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for UBA5
    Predesigned siRNA for gene silencing in human, mouse, rat UBA5
    Clone
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    OriGene clones in human, mouse for UBA5 (see all 12)
    OriGene ORF clones in mouse, rat for UBA5
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): UBA5 (NM_001033930)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UBA5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UBA5
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for UBA5
    OriGene qSTAR qPCR primer pairs in human, mouse for UBA5
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat UBA5
      QuantiTect SYBR Green Assays in human, mouse, rat UBA5
      QuantiFast Probe-based Assays in human, mouse, rat UBA5

    Additional mRNA sequence: 

    AB154406.1 AK026904.1 AK027563.1 AK056238.1 AK129616.1 AL136757.1 AY253672.1 BC009737.1 
    BC048015.1 BX537742.1 

    18 DOTS entries:

    DT.97780080  DT.113449  DT.100794372  DT.101982431  DT.95357113  DT.95203841  DT.120924343  DT.99980399 
    DT.97843257  DT.97843254  DT.120924352  DT.120944529  DT.91742338  DT.95163642  DT.120924319  DT.120924360 
    DT.92432853  DT.95163640 

    Selected AceView cDNA sequences (see all 191):

    BQ576131 BM541647 AL136757 BM562647 BU071370 BM714610 BU618827 CN482543 
    BE549973 CD679386 CB215700 R77515 BE140268 BX495490 BU739244 AI084507 
    CN482455 BE140267 BC009737 CB150461 AA348650 BG617059 AA452533 BM504192 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for UBA5 (see all 7)    About this scheme

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


    ECgene alternative splicing isoforms for UBA5

    (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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    UBA5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTAAAGCCTC
    UBA5 Expression
    About this image

    UBA5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UBA5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.170737

    UniProtKB/Swiss-Prot: UBA5_HUMAN, Q9GZZ9
    Tissue specificity: Widely expressed

        Pathway & Disease-focused RT2 Profiler PCR Arrays including UBA5: 
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat
              Cardiotoxicity in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for UBA5
    OriGene qSTAR qPCR primer pairs in human, mouse for UBA5
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat UBA5
    QuantiTect SYBR Green Assays in human, mouse, rat UBA5
    QuantiFast Probe-based Assays in human, mouse, rat UBA5
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBA5

    (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 eukaryotes.

    Orthologs for UBA5 gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Uba51 , 5 ubiquitin-like modifier activating enzyme 51, 5 85.49(n)1
    88.31(a)1
      9 (56.28 cM)5
    666631  NM_025692.31  NP_079968.21 
     1040465995 
    chicken
    (Gallus gallus)
    Aves UBA51 ubiquitin-like modifier activating enzyme 5 79.51(n)
    85.39(a)
      414879  NM_001001765.1  NP_001001765.1 
    lizard
    (Anolis carolinensis)
    Reptilia UBA56
    ubiquitin-like modifier activating enzyme 5
    84(a)
    1 ↔ 1
    6(38196867-38212467)
    African clawed frog
    (Xenopus laevis)
    Amphibia CF522654.12   -- 77.99(n)    CF522654.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC046031.12   -- 75.94(n)   386712  BC046031.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG17491 CG1749 63.35(n)
    67.6(a)
      32094  NM_132494.2  NP_572722.2 
    worm
    (Caenorhabditis elegans)
    Secernentea T03F1.11 T03F1.1 64.45(n)
    73.08(a)
      171968  NM_058847.7  NP_491248.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes UBA46
    Protein that activates Urm1p before its conjugatio...
    17(a)
    1 → many
    VIII(333072-334394) YHR111W
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G053501 AT1G05350 60.47(n)
    61.75(a)
      837034  NM_100414.3  NP_172027.2 
    rice
    (Oryza sativa)
    Liliopsida Os.108382 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 76.68(n)    AK063549.1 


    ENSEMBL Gene Tree for UBA5 (if available)
    TreeFam Gene Tree for UBA5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for UBA5 gene
    MOCS32  

    UBA5 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for UBA5
    PGOHUM00000244459


    (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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    10 SNPs for UBA5    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs341163141,2
    C--132375339(+) TTTTTT/-GAGAC 1 -- int11Minor allele frequency- -:0.00CSA 2
    rs30462031,2
    C,F--132391213(+) TATATAT/-TGCTA 2 -- int13Minor allele frequency- -:0.20CSA 10
    rs722936991,2
    ----132387034(+) TGTGT-/TGTGTG
            
    GTGTG
    2 -- cds10--------
    rs3764347721,2
    ----132384806(+) ACATA-/TACTATT 2 -- int10--------
    rs3686415991,2
    ----132376710(+) TATTC-/TTTTTT 1 -- int10--------
    rs3716704181,2
    ----132377563(+) TTATT-/ATTTTCAT 2 -- int1 us2k10--------
    rs3738558701,2
    ----132387254(+) AAAAA-/ATGGAA 2 -- int10--------
    rs3717986701,2
    ----132379995(+) CCTTA-/ACATCT 2 -- int10--------
    rs3684949431,2
    ----132377540(+) AAAAT-/TGTTCC 2 -- int1 us2k10--------
    rs3755849821,2
    ----132380974(+) ACAAA-/CAAA  
            
    ACTTT
    2 -- int10--------

    HapMap Linkage Disequilibrium report for UBA5 (132373290 - 132396944 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for UBA5:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv4014CNV Insertion18451855

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing UBA5
    DNA2.0 Custom Variant and Variant Library Synthesis for UBA5

    (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.)
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    OMIM gene information: 610552    OMIM disorders: --

    1 disease for UBA5:    About MalaCards
    malaria


    UBA5 for disorders           About GeneDecksing

    Genetic Association Database (GAD): UBA5

    Export disorders for UBA5 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 UBA5 gene, integrated from 10 sources (see all 31):
    (articles sorted by number of sources associating them with UBA5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel protein-conjugating system for Ufm1, a ubiquitin-fold modifier. (PubMed id 15071506)1, 2, 3 Komatsu M.... Tanaka K. (EMBO J. 2004)
    2. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2, 3 Wiemann S.... Poustka A. (Genome Res. 2001)
    3. Isolation and characterization of ubiquitin-activating enzyme E1- domain containing 1, UBE1DC1. (PubMed id 16328888)1, 2, 9 Dou T.... Mao Y. (Mol. Biol. Rep. 2005)
    4. Crystal structure of the human ubiquitin-activating enzyme 5 (UBA5) bound to ATP: mechanistic insights into a minimalistic E1 enzyme. (PubMed id 20368332)1, 2 Bacik J.P.... Dhe-Paganon S. (J. Biol. Chem. 2010)
    5. UBE1DC1, an ubiquitin-activating enzyme, activates two different ubiquitin-like proteins. (PubMed id 18442052)1, 2 Zheng M....Mao Y. (J. Cell. Biochem. 2008)
    6. 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)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. VCP phosphorylation-dependent interaction partners prevent apoptosis in Helicobacter pylori-infected gastric epithelial cells. (PubMed id 23383273)1 Yu C.C....Chow L.P. (PLoS ONE 2013)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    10. A high-throughput approach for measuring temporal changes in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (Nat. Methods 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: 79876 HGNC: 23230 AceView: UBE1DC1 Ensembl:ENSG00000081307 euGenes: HUgn79876
    ECgene: UBA5 H-InvDB: UBA5

    (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 UBA5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for UBA5 gene:
    Search GeneIP for patents involving UBA5

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



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