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

UBA3 Gene

protein-coding   GIFtS: 61
GCID: GC03M069103

Ubiquitin-Like Modifier Activating Enzyme 3

(Previous names: ubiquitin-activating enzyme E1C (homologous to yeast UBA3),...)
(Previous symbol: UBE1C)
  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-Like Modifier Activating Enzyme 31 2     NEDD8-Activating Enzyme E1C2 3
UBE1C1 2 3     NAE22
Ubiquitin-Activating Enzyme E1C (Homologous To Yeast UBA3)1 2     hUBA32
Ubiquitin-Activating Enzyme E1C (UBA3 Homolog, Yeast)1 2     Nedd8-Activating Enzyme HUba32
NEDD8-Activating Enzyme E1 Catalytic Subunit1 2     UBA3, Ubiquitin-Activating Enzyme E1 Homolog2
NEDD8-Activating Enzyme E1 Subunit 21 2     EC 6.3.2.-3
Ubiquitin-Activating Enzyme 32 3     Ubiquitin-Activating Enzyme E1C3
Ubiquitin-Like Modifier-Activating Enzyme 32 3     EC 6.3.28

External Ids:    HGNC: 124701   Entrez Gene: 90392   Ensembl: ENSG000001447447   OMIM: 6031725   UniProtKB: Q8TBC43   

Export aliases for UBA3 gene to outside databases

Previous GC identifer: GC03M069187


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

Entrez Gene summary for UBA3 Gene:
The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or
short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes:
ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or
E3s. This gene encodes a member of the E1 ubiquitin-activating enzyme family. The encoded enzyme associates with
AppBp1, an amyloid beta precursor protein binding protein, to form a heterodimer, and then the enzyme complex
activates NEDD8, a ubiquitin-like protein, which regulates cell division, signaling and embryogenesis. Multiple
alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. (provided by
RefSeq, Jul 2008)

GeneCards Summary for UBA3 Gene: 
UBA3 (ubiquitin-like modifier activating enzyme 3) is a protein-coding gene. Diseases associated with UBA3 include neuronitis, and among its related super-pathways are Antigen processing: Ubiquitination & Proteasome degradation and Immune System. GO annotations related to this gene include protein heterodimerization activity and acid-amino acid ligase activity.

UniProtKB/Swiss-Prot: UBA3_HUMAN, Q8TBC4
Function: Catalytic subunit of the dimeric UBA3-NAE1 E1 enzyme. E1 activates NEDD8 by first adenylating its
C-terminal glycine residue with ATP, thereafter linking this residue to the side chain of the catalytic cysteine,
yielding a NEDD8-UBA3 thioester and free AMP. E1 finally transfers NEDD8 to the catalytic cysteine of UBE2M.
Down-regulates steroid receptor activity. Necessary for cell cycle progression

Gene Wiki entry for UBA3 (UBE1C) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_022459.15  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the UBA3 gene promoter:
         MEF-2A   RFX1   p53   aMEF-2   FOXL1   YY1   GATA-2   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUBA3 promoter sequence
   Search SABiosciences Chromatin IP Primers for UBA3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UBA3


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

Entrez Gene cytogenetic band: 3p14.1   Ensembl cytogenetic band:  3p14.1   HGNC cytogenetic band: 3p14.1

UBA3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UBA3 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M069103:  view genomic region     (about GC identifiers)

Start:
69,103,881 bp from pter      End:
69,129,559 bp from pter
Size:
25,679 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: UBA3_HUMAN, Q8TBC4 (See protein sequence)
Recommended Name: NEDD8-activating enzyme E1 catalytic subunit  
Size: 463 amino acids; 51852 Da
Subunit: Heterodimer of UBA3 and NAE1. Interacts with NEDD8, UBE2F and UBE2M. Binds ESR1 and ESR2 with bound
steroid ligand (By similarity). Interacts with TBATA (By similarity)
Miscellaneous: Arg-211 acts as a selectivity gate, preventing misactivation of ubiquitin by this NEDD8-specific E1
complex
Sequence caution: Sequence=AAC27648.1; Type=Erroneous initiation;
6/12 PDB 3D structures from and Proteopedia for UBA3 (see all 12):
1R4M (3D)        1R4N (3D)        1TT5 (3D)        1Y8X (3D)        1YOV (3D)        2LQ7 (3D)    
Secondary accessions: A6NLB5 A8K027 O76088 Q9NTU3
Alternative splicing: 2 isoforms:  Q8TBC4-1   Q8TBC4-2   

Explore the universe of human proteins at neXtProt for UBA3: NX_Q8TBC4

Explore proteomics data for UBA3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8TBC4

  • 4/15 DME Specific Peptides for UBA3 (Q8TBC4) (see all 15)
     NLNRQFLF  TFYRQFHI  GCELLKNL  GPFTHPDFE 

    UBA3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    UBA3 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_003959.3  NP_937838.1  

    ENSEMBL proteins: 
     ENSP00000400294   ENSP00000354340   ENSP00000340041   ENSP00000417547   ENSP00000419077  
     ENSP00000440085  
    Reactome Protein details: Q8TBC4
    Human Recombinant Protein Products for UBA3: 
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    Novus Biologicals UBA3 Proteins
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    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for UBA3 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--

    UBA3 for ontologies           About GeneDecksing



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

    5/8 InterPro protein domains (see all 8):
     IPR018074 UBQ-activ_enz_E1_AS
     IPR023318 Ub_act_enz_dom_a
     IPR014929 E2_binding
     IPR000127 UBact_repeat
     IPR019572 Ubiquitin-activating_enzyme

    Graphical View of Domain Structure for InterPro Entry Q8TBC4

    ProtoNet protein and cluster: Q8TBC4

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

    UniProtKB/Swiss-Prot: UBA3_HUMAN, Q8TBC4
    Similarity: Belongs to the ubiquitin-activating E1 family. UBA3 subfamily


    UBA3 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: UBA3_HUMAN, Q8TBC4
    Function: Catalytic subunit of the dimeric UBA3-NAE1 E1 enzyme. E1 activates NEDD8 by first adenylating its
    C-terminal glycine residue with ATP, thereafter linking this residue to the side chain of the catalytic cysteine,
    yielding a NEDD8-UBA3 thioester and free AMP. E1 finally transfers NEDD8 to the catalytic cysteine of UBE2M.
    Down-regulates steroid receptor activity. Necessary for cell cycle progression
    Enzyme regulation: Binding of TP53BP2 to the regulatory subunit NAE1 decreases activity

         Enzyme Numbers (IUBMB): EC 6.3.2.-1 EC 6.3.22

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0005515protein binding IPI10722740
    GO:0005524ATP binding IEA--
    GO:0008641small protein activating enzyme activity ----
    GO:0016881acid-amino acid ligase activity IEA--
         
    UBA3 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for UBA3:
     Decreased viability of wild-ty  Increased cell death in HCT116  Increased circadian period len 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Uba3):
     cellular  embryogenesis  mortality/aging 

    UBA3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Uba3tm1Tchi for UBA3

       inGenious Targeting Laboratory - Custom generated mouse model solutions for UBA3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for UBA3

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    (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 UBA3 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Antigen processing: Ubiquitination & Proteasome degradation
    Antigen processing: Ubiquitination & Proteasome degradation0.83
    Ubiquitin mediated proteolysis0.36
    Class I MHC mediated antigen processing & presentation0.83
    2Immune System
    Immune System0.56
    Adaptive Immune System0.56
    3Coregulation of Androgen receptor activity
    Coregulation of Androgen receptor activity

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for UBA3
        Coregulation of Androgen receptor activity

    4        Reactome Pathways for UBA3
        Antigen processing: Ubiquitination & Proteasome degradation
    Adaptive Immune System
    Class I MHC mediated antigen processing & presentation
    Immune System


    1         Kegg Pathway  (Kegg details for UBA3):
        Ubiquitin mediated proteolysis

    UniProtKB/Swiss-Prot: UBA3_HUMAN, Q8TBC4
    Pathway: Protein modification; protein neddylation


    UBA3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for UBA3

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

    5/64 Interacting proteins for UBA3 (Q8TBC41, 2, 3 ENSP000003543404) via UniProtKB, MINT, STRING, and/or I2D (see all 64)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBE2MP610811, 3, ENSP000002530234EBI-717567,EBI-1041660 I2D: score=5 STRING: ENSP00000253023
    RAD23AP547252, 3, ENSP000003213654MINT-2791332 I2D: score=1 STRING: ENSP00000321365
    CHD3Q128732, 3MINT-65033 I2D: score=5 
    RAD23BP547272, 3, ENSP000003507084MINT-2791310 MINT-2791370 I2D: score=1 STRING: ENSP00000350708
    UIMC1Q96RL13, ENSP000003664344I2D: score=2 STRING: ENSP00000366434
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000278mitotic cell cycle ----
    GO:0006464cellular protein modification process TAS9694792
    GO:0006508proteolysis TAS9694792
    GO:0007113endomitotic cell cycle IEA--
    GO:0045116protein neddylation IEA--

    UBA3 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 UBA3

    Search CenterWatch for drugs/clinical trials and news about UBA3

    (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 UBA3 gene (3 alternative transcripts): 
    NM_003968.3  NM_198195.1  NM_198197.1  

    Unigene Cluster for UBA3:

    Ubiquitin-like modifier activating enzyme 3
    Hs.154320  [show with all ESTs]
    Unigene Representative Sequence: NM_003968
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000415609(uc011bfz.2) ENST00000361055(uc003dno.3) ENST00000349511(uc003dnq.3 uc011bfy.2)
    ENST00000461934 ENST00000465627 ENST00000461522 ENST00000465108 ENST00000493957
    ENST00000466763 ENST00000485424 ENST00000464605 ENST00000540295
    miRNA
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    Additional mRNA sequence: 

    AB012190.1 AF046024.1 AK002159.1 AK289392.1 AK298878.1 AK314751.1 AK316540.1 AL117566.1 
    BC022853.1 CR533537.1 

    24/33 DOTS entries (see all 33):

    DT.100824573  DT.95349004  DT.100824571  DT.452636  DT.120881860  DT.100673627  DT.120881849  DT.101984597 
    DT.120881856  DT.100824575  DT.99999886  DT.100008710  DT.100036654  DT.120881863  DT.91759473  DT.91759480 
    DT.92001678  DT.100036656  DT.100674495  DT.100824561  DT.100824563  DT.100824567  DT.120881867  DT.120881875 

    24/337 AceView cDNA sequences (see all 337):

    BI093727 BM769632 BM725067 CR606720 T17227 BG940403 BQ225233 AW132016 
    AA401865 AA045168 CN483729 BM698162 W47457 AI277653 AU134117 BM828181 
    BX477927 AI590139 BP346277 AI248702 AI753960 D81795 CA843829 NM_198195 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for UBA3 (see all 12)    About this scheme

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


    ECgene alternative splicing isoforms for UBA3

    (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

    UBA3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTGTTTAAA
    UBA3 Expression
    About this image


    See UBA3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UBA3

    SOURCE GeneReport for Unigene cluster: Hs.154320

    UniProtKB/Swiss-Prot: UBA3_HUMAN, Q8TBC4
    Tissue specificity: Ubiquitously expressed

        SABiosciences Expression via Pathway-Focused PCR Array including UBA3: 
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat

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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 eukaryotes.

    Orthologs for UBA3 gene from 10/25 species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Uba31 , 5 ubiquitin-like modifier activating enzyme 31, 5 92.35(n)1
    99.35(a)1
      6 (44.90 cM)5
    222001  NM_011666.21  NP_035796.21 
     971838165 
    chicken
    (Gallus gallus)
    Aves UBA31 ubiquitin-like modifier activating enzyme 3 82.29(n)
    90.28(a)
      426073  XM_003642026.1  XP_003642074.1 
    lizard
    (Anolis carolinensis)
    Reptilia UBA36
    Uncharacterized protein
    81(a)
    1 ↔ 1
    2(182340571-182360905)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.139602 Xenopus laevis transcribed sequence with moderate similarity more 78.54(n)    CA792133.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.42242 Danio rerio mRNA similar to ubiquitin-activating enzyme more 77.3(n)    BC045372.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG133431 CG13343 59.76(n)
    65.18(a)
      36539  NM_137069.3  NP_610913.1 
    worm
    (Caenorhabditis elegans)
    Secernentea rfl-11 Protein RFL-1 56.6(n)
    55.07(a)
      175982  NM_066133.4  NP_498534.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes UBA3(YPR066W)4 Protein that acts together with Ula1p to activate Rub1p more   --   16(681213-682112) 856179  NP_015391.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ECR11 ubiquitin-activating enzyme E1 C 54.06(n)
    48.98(a)
      832038  NM_121923.3  NP_568370.1 
    rice
    (Oryza sativa)
    Liliopsida Os.101902 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 73.48(n)    AK062561.1 


    ENSEMBL Gene Tree for UBA3 (if available)
    TreeFam Gene Tree for UBA3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for UBA3 gene
    1 SIMAP similar gene for UBA3 using alignment to 5 protein entries:     UBA3_HUMAN (see all proteins):
    UBE1C

    UBA3 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

    10/566 SNPs in UBA3 are shown (see all 566)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1495688231,2
    C--69103672(+) AAACTC/GTGTCG 2 -- ds50010--------
    rs558515381,2
    --69103677(+) CTGTCT/GCAAAA 2 -- ds50011Minor allele frequency- G:0.00NA 2
    rs579731331,2
    C--69103698(+) AAAAAAA/-TTATA 2 -- ds50011Minor allele frequency- -:0.00NA 2
    rs1438764721,2
    --69103955(+) TTAAA-/CCAGCC 2 -- ut310--------
    rs2016074611,2
    C--69103955(-) GGCTGG/TTTAAA 2 -- ut310--------
    rs1410583241,2
    C--69104089(+) AACAAC/GATAAA 2 -- ut310--------
    rs117094061,2
    C,H--69104133(+) TAAATG/CAGTGT 2 -- ut314Minor allele frequency- C:0.00NS EA 420
    rs766713311,2
    C,F--69104137(+) TGAGTG/ATTATA 2 -- ut311Minor allele frequency- A:0.01EA 120
    rs1823063141,2
    --69104140(+) GTGTTA/GTATCA 2 -- ut310--------
    rs1877193541,2
    --69104169(+) ATATAC/TTCCAG 2 -- ut310--------

    HapMap Linkage Disequilibrium report for UBA3 (69103881 - 69129559 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for UBA3:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv876933CNV Loss21882294
    nsv520488CNV Loss19592680
    nsv876934CNV Gain21882294


    Human Gene Mutation Database (HGMD): UBA3
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing UBA3
    DNA2.0 Custom Variant and Variant Library Synthesis for UBA3

    (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: 603172    OMIM disorders: --

    2 diseases for UBA3:    About MalaCards
    neuronitis    


    UBA3 for disorders           About GeneDecksing


    Export disorders for UBA3 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 UBA3 gene, integrated from 9 sources (see all 43):
    (articles sorted by number of sources associating them with UBA3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A new NEDD8-ligating system for cullin-4A. (PubMed id 9694792)1, 2, 3 Osaka F.... Kato S. (1998)
    2. E2-RING expansion of the NEDD8 cascade confers specificity to cullin modification. (PubMed id 19250909)1, 2 Huang D.T....Schulman B.A. (2009)
    3. Structural basis for recruitment of Ubc12 by an E2 binding domain in NEDD8's E1. (PubMed id 15694336)1, 2 Huang D.T....Schulman B.A. (2005)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. A unique E1-E2 interaction required for optimal conjugation of the ubiquitin-like protein NEDD8. (PubMed id 15361859)1, 2 Huang D.T.... Schulman B.A. (2004)
    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. (2004)
    7. Insights into the ubiquitin transfer cascade from the structure of the activating enzyme for NEDD8. (PubMed id 12646924)1, 2 Walden H.... Schulman B.A. (2003)
    8. Conservation in the mechanism of Nedd8 activation by the human AppBp1-Uba3 heterodimer. (PubMed id 12740388)1, 2 Bohnsack R.N. and Haas A.L. (2003)
    9. The structure of the APPBP1-UBA3-NEDD8-ATP complex reveals the basis for selective ubiquitin-like protein activation by an E1. (PubMed id 14690597)1, 2 Walden H.... Schulman B.A. (2003)
    10. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (2001)

    (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: 9039 HGNC: 12470 AceView: UBE1C Ensembl:ENSG00000144744 euGenes: HUgn9039
    ECgene: UBA3 Kegg: 9039 H-InvDB: UBA3

    (According to HUGE)
    About This Section
      --

    (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 UBA3 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 UBA3 gene:
    Search GeneIP for patents involving UBA3

    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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