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UBA7 Gene

protein-coding   GIFtS: 54

GC03M049818
ubiquitin-like modifier activating enzyme 7
(Previous name: ubiquitin-activating enzyme E1-like )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: UBE1L)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
D8 1, 2, 3
MGC12713 2
UBA1B 1, 2
UBE1L 2, 3
UBE2 1, 2, 3
Descriptions
UBA1, ubiquitin-activating enzyme E1 homolog B 2
UBA7, ubiquitin-activating enzyme E1 2
Ubiquitin-activating enzyme 7 3
Ubiquitin-activating enzyme E1 homolog 3
ubiquitin-activating enzyme E1-like 1, 2
ubiquitin-activating enzyme E1-related protein 2
ubiquitin-activating enzyme-2 2
ubiquitin-like modifier activating enzyme 7 2
External Ids
HGNC: 124711
Entrez Gene: 73182
UniProtKB: P412263
Ensembl: ENSG000001821797
Search outside databases for aliases for UBA7 gene

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

EntrezGene summary for UBA7:
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]

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)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

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)

GeneLoc gene densities for chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M049818:     (about GC identifiers)

Start:
49,817,642 bp from pter
End:
49,826,395 bp from pter
Size:
8,754 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000003.10  NT_022517.17  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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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

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_003326.2  

    ENSEMBL proteins: 
    ENSP00000333266 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
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    Recombinant Proteins from Abcam (Ube1L)
    Human Recombinant Proteins from Abnova (UBE1L)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 


    Antibodies for UBA7: 
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    Antibodies from Abcam (Ube1L), each with their AbpromiseSM
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    Novus Biologicals Antibodies for UBA7

    Assays for UBA7: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    5/8 InterPro domains/families (see all 8 ):
     IPR018074 UBQ-activ_enz_E1_AS
     IPR018965 Ub-activating_enz_e1_C
     IPR000594 ThiF_NAD_FAD_bd
     IPR018075 UBQ-activ_enz_E1
     IPR000127 UBact_repeat


       GeneDecks  UBA7 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P41226

    ProtoNet protein and cluster: P41226

    2 Blocks protein families:
    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

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (UBA7)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (UBE1L)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_003335

                  Applied Biosystems Silencer® siRNAs for UBA7

                  Sigma-Aldrich siRNA and siRNA Panels for UBA7  
                         Sigma-Aldrich shRNA Panels and shRNA for UBA7  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for UBA7
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_003335
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_003335
                                     untagged cDNA clone in CMV expression vector: NM_003335 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_003335

    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

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

    cellularnormal

    4 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166 nucleotide binding IEA--
    GO:0005524 ATP binding IEA--
    GO:0016874 ligase activity IEA--
    GO:0019782 ISG15 activating enzyme activity IDA16428300
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


    2 Kegg Pathways  (Kegg details for UBA7):
     hsa04120 Ubiquitin mediated proteolysis
     hsa05012 Parkinson's disease

       GeneDecks  UBA7 for the pathways selected above  
    About GeneDecksing
    UniProtKB/Swiss-Prot: UBA7_HUMAN, P41226
    Pathway: Protein modification; protein ubiquitination

     Gene Network CentralTM Interacting Genes and Proteins Network for  UBA7 


    5/9 Interacting proteins for UBA7 (ENSP000003332663 P412262) via UniProtKB, MINT, and/or STRING (see all 9 )

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ISG15P051612STRING (score=.997) MINT-68321
    HERC5ENSP000002643503STRING (score=.928)
    CCND1ENSP000002275073STRING (score=.867)
    UBCENSP000003448183STRING (score=.842)
    UBE2AENSP000003606243STRING (score=.753)
    About this table

    4 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006464 protein modification process IDA16428300
    GO:0008152 metabolic process IEA--
    GO:0019941 modification-dependent protein catabolic process IEA--
    GO:0032020 ISG15-protein conjugation IDA16428300
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for UBA7

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (UBA7)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (UBE1L)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_003335

                  Sigma-Aldrich siRNA and siRNA Panels for UBA7  
                         Sigma-Aldrich shRNA Panels and shRNA for UBA7  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_003335  

    REFSEQ mRNAs for UBA7 gene: 

    NM_003335.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_003335  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_003335
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_003335
                                     untagged cDNA clone in CMV expression vector: NM_003335 

    Additional cDNA sequence: 

    BC006378.2 BT007026.1 L13852.1 

    11 DOTS entries:

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

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

    AL044030 BT007026 AL547566 AW576378 BQ073643 BF917672 BQ215515 CD364579 
    CA866495 CD516564 CA866761 CA422452 BF848533 BF935874 AL044026 CK430594 
    CA426107 CD370845 CF453713 BF847898 BM671696 BC006378 BX482902 BQ214509 

    Unigene Cluster for UBA7:

    Ubiquitin-like modifier activating enzyme 7
    Hs.16695  [show with all ESTs]
    Unigene Representative Sequence: NM_003335


    GeneLoc Exon Structure

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

    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:                                -                                                         

    About this scheme

    ECgene alternative splicing isoforms for UBA7

    1 Ensembl transcript including schematic representation:
    ENST00000333486  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    UBA7 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for UBA7

    1 / 2

    5 probe-sets matching UBA7 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    1294_at2 U95-A 1 1.00 1.00 1.00 1.00 -- -- -- -- --

    203281_s_at2 U133-A 1 1.00 1.00 -- -- -- -- -- -- --
    1294_at2 U133-A 1 1.00 1.00 -- -- -- -- -- -- --

    203281_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    1294_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  UBA7 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TGGACTTTGT

    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

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for UBA7 gene from 5/6 species (see all 6 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    UBA71   -- ubiquitin-like modifier activating enzyme 7 84.06(n)
    81.25(a)
    608118  XM_845452.1  XP_850545.1 
    chimpanzee
    (Pan troglodytes)
    UBA71   -- ubiquitin-like modifier activating enzyme 7 99.56(n)
    99.19(a)
    744322  XM_001166289.1  XP_001166289.1 
    cow
    (Bos taurus)
    UBA71   -- ubiquitin-like modifier activating enzyme 7 82.7(n)
    77.96(a)
    497204  NM_001012284.1  NP_001012284.1 
    rat
    (Rattus norvegicus)
    Uba71   -- ubiquitin-like modifier activating enzyme 7 79.96(n)
    74.8(a)
    301000  XM_217252.4  XP_217252.3 
    mouse
    (Mus musculus)
    Uba75
    Ube1l1
    9 (60.00 cM)5
    ubiquitin-like modifier activating enzyme 75
    ubiquitin-activating enzyme E1-like1
    80.96(n)1
    75.79(a)1
    741531  NM_023738.31  NP_076227.11 
     AF2886945  AI8943135  (see all 19)
    About this table        Species with no ortholog for UBA7

    ENSEMBL Gene Tree for UBA7
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for UBA7 gene
    UBA62  UBA12  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/52 NCBI SNPs in UBA7 are shown (see all 52 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 30)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 3 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs22301491,2
    C,F,H49820530(-) CTTCCA/GTGTGG 1 H/R mis110Minor allele frequency- G:0.02MN EU EA WA NA 956
    rs130711871,2
    C,H49824429(+) GGGCTG/AGAGCA 1 X/Q non1 ese34Minor allele frequency- A:0.00EU EA WA 416
    rs124863581,2
    C,H49823840(+) CTGTCC/TGCTTC 1 R/Q mis1 ese34Minor allele frequency- T:0.00EU EA WA 406
    rs22343861,2
    H49820846(-) CTCCCC/GTGAAG 1 L/V mis1 ese34Minor allele frequency- G:0.00EU EA WA 416
    --
    rs67753841,2
    C49828077(+) tcccaA/Gagtgc 1 -- ng310--------
    --
    rs119289131,2
    H49821856(+) CTGGGG/AACACT 1 S/P mis1 ese34Minor allele frequency- A:0.00EU EA WA 406
    rs22343791,2
    H49824324(-) GGCCAC/GCCCAG 1 P/A mis1 ese34Minor allele frequency- G:0.00EU EA WA 412
    rs17998451,2
    A,C,F,H49822627(-) CTCCCT/CTGCCA 1 -- int14Minor allele frequency- C:0.22EU EA WA 406
    rs17998431,2
    A,C,F49824727(-) AAGGTC/G/TTGGGA 1 -- int12NA 182
    --
    rs38193251,2
    A,C49818727(-) CCCCCA/GCCCCC 1 -- int10--------
    About this table

    HapMap Linkage Disequilibrium images for UBA7 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 191325

    4 Novoseek disease relationships for UBA7 gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemia promyelocytic acute 67.79 2 11891284 (1), 14976209 (1)
    cancer lung 36.30 10 19074853 (3), 15520223 (3), 10709110 (2)
    cancer 13.83 3 10709110 (1), 14976209 (1)
    tumors 0.00 4 19074853 (1), 15520223 (1), 10709110 (1)
    About this table

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/32 PubMed articles for UBA7 gene (see all 32 ):
    (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, and/or H-InvDB)
    About This Section

    Entrez Gene: 7318 HGNC: 12471 AceView: UBE1L Ensembl:ENSG00000182179 euGenes: HUgn7318
    ECgene: UBA7 H-InvDB: UBA7
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for UBA7:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Antibodies for UBA7

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