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

UBA7 Gene

protein-coding   GIFtS: 63
GCID: GC03M049844

Ubiquitin-Like Modifier Activating Enzyme 7

(Previous name: ubiquitin-activating enzyme E1-like)
(Previous symbol: UBE1L)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
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 71 2     Ubiquitin-Activating Enzyme E1 Homolog B (Yeast)1
UBE1L1 2 3     Ubiquitin-Activating Enzyme E1-Like1
UBE22 3 5     UBA1B2
Ubiquitin-Activating Enzyme 72 3     UBA1, Ubiquitin-Activating Enzyme E1 Homolog B2
Ubiquitin-Activating Enzyme E1 Homolog2 3     UBA7, Ubiquitin-Activating Enzyme E12
D82 3     Ubiquitin-Activating Enzyme E1-Related Protein2
UBA11     Ubiquitin-Activating Enzyme-22
UBA71     Ubiquitin-Like Modifier-Activating Enzyme 72
Ubiquitin-Activating Enzyme E11     

External Ids:    HGNC: 124711   Entrez Gene: 73182   Ensembl: ENSG000001821797   OMIM: 1913255   UniProtKB: P412263   

Export aliases for UBA7 gene to outside databases

Previous GC identifer: GC03M049818


(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 UBA7 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 is a retinoid
target that triggers promyelocytic leukemia (PML)/retinoic acid receptor alpha (RARalpha) degradation and
apoptosis in acute promyelocytic leukemia, where it is involved in the conjugation of the ubiquitin-like
interferon-stimulated gene 15 protein. (provided by RefSeq, Jul 2008)

GeneCards Summary for UBA7 Gene: 
UBA7 (ubiquitin-like modifier activating enzyme 7) is a protein-coding gene. Diseases associated with UBA7 include acute promyelocytic leukemia, and crohn's disease, and among its related super-pathways are Antigen processing: Ubiquitination & Proteasome degradation and Interferon Signaling. GO annotations related to this gene include ISG15 activating enzyme activity and ligase activity. An important paralog of this gene is UBA1.

UniProtKB/Swiss-Prot: UBA7_HUMAN, P41226
Function: Activates ubiquitin by first adenylating with ATP its C-terminal glycine residue and thereafter linking
this residue to the side chain of a cysteine residue in E1, yielding an ubiquitin-E1 thioester and free AMP

Gene Wiki entry for UBA7 (UBE1L) 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_022517.18  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the UBA7 gene promoter:
         GR   NF-1/L   NF-1   AML1a   Pax-5   GR-beta   MyoD   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUBA7 promoter sequence
   Search SABiosciences Chromatin IP Primers for UBA7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UBA7


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

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

UBA7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UBA7 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M049844:  view genomic region     (about GC identifiers)

Start:
49,842,638 bp from pter      End:
49,851,391 bp from pter
Size:
8,754 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: UBA7_HUMAN, P41226 (See protein sequence)
Recommended Name: Ubiquitin-like modifier-activating enzyme 7  
Size: 1012 amino acids; 111694 Da
Subunit: Monomer (By similarity). Binds and is involved in the conjugation of G1P2/ISG15
Miscellaneous: There are two active sites within the E1 molecule, allowing it to accommodate two ubiquitin
moieties at a time, with a new ubiquitin forming an adenylate intermediate as the previous one is transferred to
the thiol site
Secondary accessions: Q9BRB2

Explore the universe of human proteins at neXtProt for UBA7: NX_P41226

Explore proteomics data for UBA7 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P41226

  • UBA7 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    UBA7 Protein Expression
    REFSEQ proteins: NP_003326.2  
    ENSEMBL proteins: 
     ENSP00000333266  
    Reactome Protein details: P41226
    Human Recombinant Protein Products for UBA7: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for UBA7 (ISG15 Activating Enzyme/UBE1L)
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    OriGene Purified Protein for UBA7
    OriGene Protein Over-expression Lysate for UBA7
    OriGene MassSpec for UBA7 
    OriGene Custom Protein Services for UBA7
    GenScript Custom Purified and Recombinant Proteins Services for UBA7
    Novus Biologicals UBA7 Proteins
    Novus Biologicals UBA7 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    UBA7 for ontologies           About GeneDecksing



    UBA7 Antibody Products: 
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    Novus Biologicals UBA7 Antibodies
    Abcam antibodies for UBA7
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    LSBio Antibodies in human, mouse, rat for UBA7 

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    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (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

    5/10 InterPro protein domains (see all 10):
     IPR018074 UBQ-activ_enz_E1_AS
     IPR018075 UBQ-activ_enz_E1
     IPR018965 Ub-activating_enz_e1_C
     IPR000127 UBact_repeat
     IPR023280 Ub-like_act_enz_cat_cys_dom

    Graphical View of Domain Structure for InterPro Entry P41226

    ProtoNet protein and cluster: P41226

    2 Blocks protein domains:
    IPB000011 Ubiquitin-activating enzyme
    IPB000594 UBA/THIF-type NAD/FAD binding fold


    UniProtKB/Swiss-Prot: UBA7_HUMAN, P41226
    Similarity: Belongs to the ubiquitin-activating E1 family


    UBA7 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: UBA7_HUMAN, P41226
    Function: Activates ubiquitin by first adenylating with ATP its C-terminal glycine residue and thereafter linking
    this residue to the side chain of a cysteine residue in E1, yielding an ubiquitin-E1 thioester and free AMP

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0005524ATP binding IEA--
    GO:0008641small protein activating enzyme activity ----
    GO:0016874ligase activity IEA--
    GO:0019782ISG15 activating enzyme activity IDA16428300
         
    UBA7 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for UBA7:
     Decreased cilium length after   Increased cell death HMECs cel 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Uba7):
     cellular  normal 

    UBA7 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for UBA7 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for UBA7

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for UBA7 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for UBA7 

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    1 QIAGEN miScript miRNA Assays for microRNA that regulate UBA7:
    hsa-miR-1909*
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBA7


    (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 UBA7 About   (see all 7)                                                                                              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
    2Interferon Signaling
    Interferon Signaling0.61
    Antiviral mechanism by IFN-stimulated genes0.42
    Cytokine Signaling in Immune system0.61
    ISG15 antiviral mechanism0.42
    3Immune System
    Immune System0.56
    Innate Immune System0.50
    Adaptive Immune System0.56
    4RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways
    RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways0.52
    Negative regulators of RIG-I/MDA5 signaling0.49
    5Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Parkinson's disease0.61

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for UBA7
        Parkinsons Disease Pathway
    Proteasome Degradation

    5/11        Reactome Pathways for UBA7 (see all 11)
        Antiviral mechanism by IFN-stimulated genes
    Cytokine Signaling in Immune system
    RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways
    Adaptive Immune System
    Antigen processing: Ubiquitination & Proteasome degradation


    2         Kegg Pathways  (Kegg details for UBA7):
        Ubiquitin mediated proteolysis
    Parkinson's disease

    UniProtKB/Swiss-Prot: UBA7_HUMAN, P41226
    Pathway: Protein modification; protein ubiquitination


    UBA7 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for UBA7

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/9 Interacting proteins for UBA7 (P412262, 3 ENSP000003332664) via UniProtKB, MINT, STRING, and/or I2D (see all 9)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ISG15P051612, 3, ENSP000003686994MINT-68321 I2D: score=6 STRING: ENSP00000368699
    FASP254453, ENSP000003479794I2D: score=2 STRING: ENSP00000347979
    DDX58ENSP000003692134STRING: ENSP00000369213
    HERC5ENSP000002643504STRING: ENSP00000264350
    TRIM25ENSP000003238894STRING: ENSP00000323889
    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:0006464cellular protein modification process IDA16428300
    GO:0016567protein ubiquitination IEA--
    GO:0019221cytokine-mediated signaling pathway TAS--
    GO:0019941modification-dependent protein catabolic process IEA--
    GO:0032020ISG15-protein conjugation IDA16428300

    UBA7 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

    UBA7 for compounds           About GeneDecksing

    EMD Millipore small molecules for UBA7:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for UBA7

    4 HMDB Compounds for UBA7    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    3 Novoseek inferred chemical compound relationships for UBA7 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoid 68.6 9 11891284 (4), 14976209 (2), 17302201 (1), 15520223 (1)
    retinoic acid 54.1 11 11891284 (4), 14976209 (4), 15520223 (1)
    cysteine 8.4 1 16407192 (1)

    Search CenterWatch for drugs/clinical trials and news about UBA7

    (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 UBA7 gene: 
    NM_003335.2  

    Unigene Cluster for UBA7:

    Ubiquitin-like modifier activating enzyme 7
    Hs.16695  [show with all ESTs]
    Unigene Representative Sequence: NM_003335
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000333486(uc003cxr.3) ENST00000497908 ENST00000488536 ENST00000483751
    ENST00000478875 ENST00000473992 ENST00000489826 ENST00000460516 ENST00000460703
    ENST00000478688 ENST00000494212

    miRNA
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    hsa-miR-1909*
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    Additional mRNA sequence: 

    BC006378.2 BT007026.1 L13852.1 

    11 DOTS entries:

    DT.445469  DT.92430180  DT.95243263  DT.40108845  DT.95113689  DT.100787258  DT.100787255  DT.95113692 
    DT.40194929  DT.97844492  DT.97864605 

    24/213 AceView cDNA sequences (see all 213):

    BC006378 CA426107 BM695256 CD516564 CA314101 CA422452 BX954194 BF765765 
    NM_003335 BU787668 BF847898 BM704555 BX346418 AW576378 BQ008818 BF848533 
    CD364579 CF453713 CA866495 BQ214509 BM272748 BX482902 BM671696 CA866761 

    GeneLoc Exon Structure

    5/14 Alternative Splicing Database (ASD) splice patterns (SP) for UBA7 (see all 14)    About this scheme

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

    ExUns: 18 ^ 19a · 19b · 19c · 19d ^ 20 ^ 21a · 21b ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27
    SP1:                                                                                          
    SP2:                                                                                          
    SP3:  -     -     -     -     -     -     -                                                   
    SP4:                                                                                          
    SP5:                                -                                                         


    ECgene alternative splicing isoforms for UBA7

    (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

    UBA7 expression in normal human tissues (normalized intensities)      UBA7 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGACTTTGT
    UBA7 Expression
    About this image


    UBA7 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 5 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             b cells   

    See UBA7 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UBA7

    SOURCE GeneReport for Unigene cluster: Hs.16695

    UniProtKB/Swiss-Prot: UBA7_HUMAN, P41226
    Tissue specificity: Expressed in a variety of normal and tumor cell types, but is reduced in lung cancer cell
    lines

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBA7

    (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 UBA7 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Uba71 , 5 ubiquitin-like modifier activating enzyme 71, 5 80.92(n)1
    75.79(a)1
      9 (59.07 cM)5
    741531  NM_023738.41  NP_076227.11 
     1079755055 
    chicken
    (Gallus gallus)
    Aves UBA71 ubiquitin-like modifier activating enzyme 7 59.65(n)
    48.96(a)
      395178  XM_425145.3  XP_425145.3 
    lizard
    (Anolis carolinensis)
    Reptilia UBA76
    ubiquitin-like modifier activating enzyme 7
    46(a)
    1 ↔ 1
    2(147030628-147101885)
    zebrafish
    (Danio rerio)
    Actinopterygii BX649282.16
    Uncharacterized protein
    43(a)
    1 ↔ 1
    6(52900365-52991541)
    fruit fly
    (Drosophila melanogaster)
    Insecta Uba16
    Ubiquitin activating enzyme 1
    34(a)
    1 → many
    2R(5575794-5580833)
    worm
    (Caenorhabditis elegans)
    Secernentea uba-16
    Protein UBA-1, isoform a
    33(a)
    1 → many
    IV(9989670-9995034)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes UBA16
    Ubiquitin activating enzyme (E1), involved in ubiq...
    36(a)
    1 → many
    XI(39163-42237)


    ENSEMBL Gene Tree for UBA7 (if available)
    TreeFam Gene Tree for UBA7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for UBA7 gene
    UBA12  UBA62  
    2 SIMAP similar genes for UBA7 using alignment to 1 protein entry:     UBA7_HUMAN:
    UBA1    UBA6

    UBA7 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

    10/252 SNPs in UBA7 are shown (see all 252)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0477934
    ----see VAR_0477932 H R mis40--------
    rs1495714481,2
    --49842969(+) CAGGAA/GCCCAA 1 -- int10--------
    rs1923194461,2
    C--49843636(+) CTTACC/TTCCCC 1 -- int10--------
    rs2015940511,2
    C--49843647(+) CCAACC/GCCCAT 1 -- int10--------
    rs2020392841,2
    --49845792(+) GCCCCA/GCTCCT 1 -- int10--------
    rs22343861,2
    C,H--49845842(-) CTCCCC/GTGAAG 2 L V mis1 ese35Minor allele frequency- G:0.00NS EA NA 418
    rs2015452111,2
    C--49845916(+) GAGGGA/GATGTT 1 -- int10--------
    rs1477712731,2
    --49846004(+) CTTACC/TATTCC 1 -- int10--------
    rs22343851,2
    C,F--49846041(-) TGTAGC/TATTAA 1 -- int18Minor allele frequency- T:0.28WA NA CSA EA 368
    rs1816371261,2
    --49846292(+) GAGAGA/GTAGCA 1 -- int10--------

    HapMap Linkage Disequilibrium report for UBA7 (49842638 - 49851391 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for UBA7:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv876766CNV Loss21882294
    nsv834688CNV Loss17160897


    Human Gene Mutation Database (HGMD): UBA7
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing UBA7
    DNA2.0 Custom Variant and Variant Library Synthesis for UBA7

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 191325    OMIM disorders: --

    9 diseases for UBA7:    About MalaCards
    acute promyelocytic leukemia    crohn's disease    leukemia    parkinson's disease
    influenza    lung cancer    hepatitis c    myeloma
    hepatitis


    UBA7 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    4 Novoseek inferred disease relationships for UBA7 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemia promyelocytic acute 65.9 2 11891284 (1), 14976209 (1)
    cancer lung 33.2 10 19074853 (3), 15520223 (3), 10709110 (2)
    cancer 9.96 3 10709110 (1), 14976209 (1)
    tumors 0 4 19074853 (1), 15520223 (1), 10709110 (1)

    Genetic Association Database (GAD): UBA7
    Human Genome Epidemiology (HuGE) Navigator: UBA7 (2 documents)

    Export disorders for UBA7 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 UBA7 gene, integrated from 9 sources (see all 48):
    (articles sorted by number of sources associating them with UBA7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A gene in the chromosomal region 3p21 with greatly reduced expression in lung cancer is similar to the gene for ubiquitin-activating enzyme. (PubMed id 8327486)1, 2, 3 Kok K.... Carritt B. (1993)
    2. Analysis of SNPs with an effect on gene expression id entifies UBE2L3 and BCL3 as potential new risk genes for Crohn's disease. (PubMed id 20601676)1, 4 Fransen K....Weersma R.K. (2010)
    3. Association analysis of 3p21 with Crohn's disease in a New Zealand population. (PubMed id 20307617)1, 4 Morgan A.R....Ferguson L.R. (2010)
    4. Identification of interferon-stimulated gene 15 as an antiviral molecule during Sindbis virus infection in vivo. (PubMed id 16254333)1, 2 Lenschow D.J.... Virgin H.W. IV (2005)
    5. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (2003)
    6. Influenza B virus NS1 protein inhibits conjugation of the interferon (IFN)-induced ubiquitin-like ISG15 protein. (PubMed id 11157743)1, 2 Yuan W. and Krug R.M. (2001)
    7. The genomic structure of the human UBE1L gene. (PubMed id 7734949)1, 2 Kok K....Buys C.H.C.M. (1995)
    8. UBE1L is a retinoid target that triggers PML/RARalpha degradation and apoptosis in acute promyelocytic leukemia. (PubMed id 11891284)1, 9 Kitareewan S....Dmitrovsky E. (2002)
    9. Involvement of UBE1L in ISG15 conjugation during retinoid-induced differentiation of acute promyelocytic leukemia. (PubMed id 14976209)1, 9 Pitha-Rowe I....Dmitrovsky E. (2004)
    10. UBE1L causes lung cancer growth suppression by targeting cyclin D1. (PubMed id 19074853)1, 9 Feng Q....Dmitrovsky E. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 7318 HGNC: 12471 AceView: UBE1L Ensembl:ENSG00000182179 euGenes: HUgn7318
    ECgene: UBA7 Kegg: 7318 H-InvDB: UBA7

    (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 UBA7 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 UBA7 gene:
    Search GeneIP for patents involving UBA7

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



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    About This Section

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