Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

SAE1 Gene

protein-coding   GIFtS: 69
GCID: GC19P047634

SUMO1 Activating Enzyme Subunit 1

  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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
SUMO1 Activating Enzyme Subunit 11 2     Activator Of SUMO12
AOS12 3 5     Sentrin/SUMO-Activating Protein AOS12
SUA12 3 5     SUMO-1 Activating Enzyme E1 N Subunit2
Ubiquitin-Like 1-Activating Enzyme E1A2 3     SUMO-1 Activating Enzyme Subunit 12
UBLE1A2 3     SUMO-Activating Enzyme Subunit 12
Activator Of Sumo 11     Ubiquitin-Like Protein SUMO-1 Activating Enzyme2
HSPC1402     

External Ids:    HGNC: 306601   Entrez Gene: 100552   Ensembl: ENSG000001422307   OMIM: 6132945   UniProtKB: Q9UBE03   
ORGUL members:         
NONCODE14:n407760      

Export aliases for SAE1 gene to outside databases

Previous GC identifers: GC19P048277 GC19P048024 GC19P052310 GC19P052326 GC19P052327 GC19P052328 GC19P044058


(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 SAE1 Gene:
Posttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or
sumoylation, regulates protein structure and intracellular localization. SAE1 and UBA2 (MIM 613295) form a
heterodimer that functions as a SUMO-activating enzyme for the sumoylation of proteins (Okuma et al., 1999
(PubMed 9920803)).(supplied by OMIM, Mar 2010)

GeneCards Summary for SAE1 Gene: 
SAE1 (SUMO1 activating enzyme subunit 1) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with SAE1 include adult dermatomyositis, and color blindness, and among its related super-pathways are Proteolytic Processing of SUMO and Proteolysis Putative SUMO-1 pathway. GO annotations related to this gene include protein C-terminus binding and nucleotide binding.

UniProtKB/Swiss-Prot: SAE1_HUMAN, Q9UBE0
Function: The heterodimer acts as a E1 ligase for SUMO1, SUMO2, SUMO3, and probably SUMO4. It mediates
ATP-dependent activation of SUMO proteins followed by formation of a thioester bond between a SUMO protein and a
conserved active site cysteine residue on UBA2/SAE2

Gene Wiki entry for SAE1 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_000019.9  NC_018930.2  NT_011109.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SAE1 gene promoter:
         Egr-3   Sp1   Egr-1   Pax-2   Pax-2a   CUTL1   GATA-1   Egr-2   E2F-1   c-Myb   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSAE1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SAE1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SAE1


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

Entrez Gene cytogenetic band: 19q13.32   Ensembl cytogenetic band:  19q13.32   HGNC cytogenetic band: 19q13.32

SAE1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SAE1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P047634:  view genomic region     (about GC identifiers)

Start:
47,616,531 bp from pter      End:
47,713,893 bp from pter
Size:
97,363 bases      Orientation:
plus 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: SAE1_HUMAN, Q9UBE0 (See protein sequence)
Recommended Name: SUMO-activating enzyme subunit 1  
Size: 346 amino acids; 38450 Da
Subunit: Heterodimer of SAE1 and UBA2/SAE2. The heterodimer corresponds to the two domains that are encoded on a
single polypeptide chain in ubiquitin-activating enzyme E1. Interacts with UBE2I
Subcellular location: Nucleus
4 PDB 3D structures from and Proteopedia for SAE1:
1Y8Q (3D)        1Y8R (3D)        3KYC (3D)        3KYD (3D)    
Secondary accessions: B2RDP5 B3KMQ2 F5GXX7 G3XAK6 O95717 Q9P020
Alternative splicing: 3 isoforms:  Q9UBE0-1   Q9UBE0-2   Q9UBE0-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SAE1: NX_Q9UBE0

Explore proteomics data for SAE1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UBE0

  • SAE1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SAE1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001139185.1  NP_001139186.1  NP_005491.1  

    ENSEMBL proteins: 
     ENSP00000471010   ENSP00000472389   ENSP00000469938   ENSP00000416557   ENSP00000468931  
     ENSP00000470741   ENSP00000398818   ENSP00000469978   ENSP00000270225   ENSP00000473037  
     ENSP00000440818   ENSP00000440955  
    Reactome Protein details: Q9UBE0
    Human Recombinant Protein Products for SAE1: 
    EMD Millipore Purified and/or Recombinant SAE1 Protein
    R&D Systems Recombinant & Natural Proteins for SAE1 (SUMO Activating Enzyme E1 (SAE1/UBA2))
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for SAE1
    OriGene Protein Over-expression Lysate for SAE1
    OriGene MassSpec for SAE1 
    OriGene Custom Protein Services for SAE1
    GenScript Custom Purified and Recombinant Proteins Services for SAE1
    Novus Biologicals SAE1 Proteins
    Novus Biologicals SAE1 Lysates
    Sino Biological Recombinant Protein for SAE1
    Sino Biological Cell Lysate for SAE1 
    ProSpec Recombinant Protein for SAE1
    Cloud-Clone Corp. Proteins for SAE1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS10187858
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0043231intracellular membrane-bounded organelle IDA--

    SAE1 for ontologies           About GeneDecksing



    SAE1 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for SAE1
    OriGene Custom Antibody Services for SAE1
    GenScript Custom Superior Antibodies Services for SAE1
    Novus Biologicals SAE1 Antibodies
    Abcam antibodies for SAE1
    Cloud-Clone Corp. Antibodies for SAE1 
    ThermoFisher Antibody for SAE1
    LSBio Antibodies in human, mouse, rat for SAE1 

    Assay Products for SAE1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SAE1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SAE1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SAE1 
    Cloud-Clone Corp. CLIAs for SAE1


    (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

    4 InterPro protein domains:
     IPR009036 Molybdenum_cofac_synth_MoeB
     IPR000594 ThiF_NAD_FAD-bd
     IPR016040 NAD(P)-bd_dom
     IPR000011 UBQ/SUMO-activ_enz_E1-like

    Graphical View of Domain Structure for InterPro Entry Q9UBE0

    ProtoNet protein and cluster: Q9UBE0

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

    UniProtKB/Swiss-Prot: SAE1_HUMAN, Q9UBE0
    Similarity: Belongs to the ubiquitin-activating E1 family


    SAE1 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: SAE1_HUMAN, Q9UBE0
    Function: The heterodimer acts as a E1 ligase for SUMO1, SUMO2, SUMO3, and probably SUMO4. It mediates
    ATP-dependent activation of SUMO proteins followed by formation of a thioester bond between a SUMO protein and a
    conserved active site cysteine residue on UBA2/SAE2

         Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004839ubiquitin activating enzyme activity TAS10187858
    GO:0005515protein binding IPI12941704
    GO:0008022protein C-terminus binding IDA10187858
    GO:0008047enzyme activator activity TAS9920803
         
    SAE1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for SAE1:
     Increased cell death in DLD-1   Synthetic lethal with Ras  Wnt reporter upregulated 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SAE1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SAE1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SAE1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SAE1 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SAE1
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate SAE1:
    hsa-miR-4252 hsa-miR-500a hsa-miR-371-5p
    SwitchGear 3'UTR luciferase reporter plasmidSAE1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SAE1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SAE1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SAE1
    Sirion Biotech Customized adenovirus for overexpression of SAE1

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for SAE1 (see all 23)
    OriGene ORF clones in mouse, rat for SAE1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): SAE1 (NM_005500)
    Sino Biological Human cDNA Clone for SAE1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SAE1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SAE1
    Sirion Biotech Customized lentivirus for stable overexpression of SAE1 
                         Customized lentivirus expression plasmids for stable overexpression of SAE1 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SAE1
    Search LifeMap BioReagents cell lines for SAE1
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SAE1


    (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 SAE1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1SUMOylation
    SUMOylation0.67
    Conjugation of SUMO to E1 (UBA2:SAE1)0.56
    Processing and Activation of SUMO0.67
    Transfer of SUMO from E1 to E2 (UBE2I, UBC9)0.33
    2DNA damage Role of SUMO in p53 regulation
    Proteolysis Putative SUMO-1 pathway0.33
    DNA damage Role of SUMO in p53 regulation0.33
    3Antigen processing: Ubiquitination & Proteasome degradation
    Ubiquitin mediated proteolysis0.36
    44-1BB Pathway
    SUMO Pathway0.30

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for SAE1
        Proteolysis Putative SUMO-1 pathway
    DNA damage Role of SUMO in p53 regulation

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for SAE1
        SUMO Pathway

    2 GeneGo (Thomson Reuters) Pathways for SAE1
        Proteolysis Putative SUMO-1 pathway
    DNA damage Role of SUMO in p53 regulation


    4        Reactome Pathways for SAE1
        Transfer of SUMO from E1 to E2 (UBE2I, UBC9)
    Conjugation of SUMO to E1 (UBA2:SAE1)
    SUMOylation
    Processing and Activation of SUMO


    1         Kegg Pathway  (Kegg details for SAE1):
        Ubiquitin mediated proteolysis

    UniProtKB/Swiss-Prot: SAE1_HUMAN, Q9UBE0
    Pathway: Protein modification; protein sumoylation


    SAE1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SAE1

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

    5/63 Interacting proteins for SAE1 (Q9UBE01, 2, 3 ENSP000002702254) via UniProtKB, MINT, STRING, and/or I2D (see all 63)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBA2Q9UBT21, 2, 3, ENSP000002465484EBI-743154,EBI-718569 MINT-66320 I2D: score=16 STRING: ENSP00000246548
    TP53P046372, 3, ENSP000002693054MINT-50577 I2D: score=1 STRING: ENSP00000269305
    ENSG00000206454Q018603I2D: score=1 
    ENSG00000229094Q018603I2D: score=1 
    ENSG00000230336Q018603I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006464cellular protein modification process ----
    GO:0016567protein ubiquitination TAS10187858
    GO:0016925protein sumoylation TAS--
    GO:0043085positive regulation of catalytic activity TAS9920803

    SAE1 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 SAE1

    4 HMDB Compounds for SAE1    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--

    Search CenterWatch for drugs/clinical trials and news about SAE1

    (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 SAE1 gene (3 alternative transcripts): 
    NM_001145713.1  NM_001145714.1  NM_005500.2  

    Unigene Cluster for SAE1:

    SUMO1 activating enzyme subunit 1
    Hs.515500  [show with all ESTs]
    Unigene Representative Sequence: BX538265
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000594144 ENST00000594526 ENST00000597808 ENST00000413379(uc010ekx.3)
    ENST00000600706 ENST00000598840 ENST00000414294 ENST00000600753 ENST00000270225(uc002pgc.3 uc010ekw.3 uc010xyk.2 uc002pge.3)
    ENST00000596995 ENST00000392776(uc002pgd.3) ENST00000540850
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SAE1
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate SAE1:
    hsa-miR-4252 hsa-miR-500a hsa-miR-371-5p
    SwitchGear 3'UTR luciferase reporter plasmidSAE1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SAE1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SAE1
    Clone
    Products:
         
    OriGene clones in human, mouse for SAE1 (see all 23)
    OriGene ORF clones in mouse, rat for SAE1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): SAE1 (NM_005500)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SAE1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SAE1
    Sirion Biotech Customized lentivirus for stable overexpression of SAE1 
                         Customized lentivirus expression plasmids for stable overexpression of SAE1 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SAE1
    OriGene qSTAR qPCR primer pairs in human, mouse for SAE1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SAE1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SAE1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SAE1

    Additional mRNA sequence: 

    AF046025.2 AF090385.2 AF110956.1 AF161489.1 AK021978.1 AK055481.1 AK090645.1 AK302287.1 
    AK315624.1 BC000344.2 BC003611.2 BC018271.1 BC128518.1 BC128519.1 BT007290.1 BX538265.1 
    NR_027280.1 

    24/36 DOTS entries (see all 36):

    DT.456192  DT.100880224  DT.85105605  DT.95334267  DT.100880225  DT.100690136  DT.100880210  DT.100880216 
    DT.100880214  DT.110612  DT.100880218  DT.121498604  DT.100880211  DT.92461230  DT.100880222  DT.100880215 
    DT.100880219  DT.100880221  DT.121498524  DT.75145118  DT.95334254  DT.121498618  DT.97860556  DT.100880226 

    24/739 AceView cDNA sequences (see all 739):

    BP341360 BU149561 BQ650218 BQ425441 AA922736 BU181837 AI745511 BQ881525 
    BE617185 H64621 BE906074 BQ052692 AA939182 BQ928453 BQ423122 AA385752 
    BG574117 AU143677 CF243054 BU191681 BU556728 BQ433142 BM705951 AA309709 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for SAE1 (see all 10)    About this scheme

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


    ECgene alternative splicing isoforms for SAE1

    (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

    SAE1 expression in normal human tissues (normalized intensities)      SAE1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGGCTCAAGT
    SAE1 Expression
    About this image


    SAE1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/24 selected tissues (see all 24) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Epithelium (Reproductive System)    fully expand to see all 4 entries
             vagina ; squamous epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Metanephros
             kidney ; cells in glomeruli   
     
     Pancreas (Endocrine System)    fully expand to see all 2 entries
             Islets of Langerhans
             pancreas ; exocrine glandular cells   

    See SAE1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SAE1

    SOURCE GeneReport for Unigene cluster: Hs.515500

    UniProtKB/Swiss-Prot: SAE1_HUMAN, Q9UBE0
    Tissue specificity: Expression level increases during S phase and drops in G2 phase (at protein level)

        SABiosciences Expression via Pathway-Focused PCR Array including SAE1: 
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SAE1
    OriGene qSTAR qPCR primer pairs in human, mouse for SAE1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SAE1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SAE1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SAE1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SAE1

    (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 SAE1 gene from 9/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sae11 , 5 SUMO1 activating enzyme subunit 11, 5 87.57(n)1
    93.35(a)1
      7 (8.88 cM)5
    564591  NM_019748.21  NP_062722.11 
     163270545 
    lizard
    (Anolis carolinensis)
    Reptilia SAE16
    Uncharacterized protein
    76(a)
    1 ↔ 1
    LGf(1740413-1758123)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.74202 Xenopus laevis SUMO-1 activating enzyme E1 N subunit more 73.99(n)    AY099426.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570348102   -- 72.58(n)    57034810 
    fruit fly
    (Drosophila melanogaster)
    Insecta Aos11 , 3 SMT3-dependent protein catabolism SUMO
    activating more3
    Aos11
    39(a)3
    50.15(n)1
    40.84(a)1
      87B103
    415321  NM_141941.21  NP_650198.11 
    worm
    (Caenorhabditis elegans)
    Secernentea aos-11 , 3 ubiquitin activating enzyme3
    Protein AOS-11
    30(a)3
    45.06(n)1
    32.1(a)1
      V(10130268-10132861)3
    1794091  NM_073203.31  NP_505604.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes AOS1(YPR180W)4
    AOS11
    Subunit of a heterodimeric nuclear SUMO activating more4
    Aos1p1
    46.39(n)1
    36.94(a)1
      16(895961-897004)4
    8563101, 4  NP_015506.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons SAE1A1 SUMO-activating enzyme subunit 1A 48.73(n)
    36.96(a)
      828596  NM_118626.2  NP_567712.1 
    rice
    (Oryza sativa)
    Liliopsida Os11g04970001 hypothetical protein 49.03(n)
    36.69(a)
      4350554  NM_001074469.1  NP_001067937.1 


    ENSEMBL Gene Tree for SAE1 (if available)
    TreeFam Gene Tree for SAE1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SAE1 gene
    2 SIMAP similar genes for SAE1 using alignment to 10 protein entries:     SAE1_HUMAN (see all proteins):
    UBA1    NAE1

    SAE1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SAE1
    PGOHUM00000242913


    (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

    10/1568 SNPs in SAE1 are shown (see all 1568)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1398583971,2
    Cuntested147678262(+) TGCCCA/GGCAGT 4 -- int10--------
    rs1904664341,2
    --47632080(+) TATTTA/TTTTAT 3 -- us2k10--------
    rs1169809881,2
    F--47632084(+) TATTTA/TTTTTT 3 -- us2k11Minor allele frequency- T:0.12NA 120
    rs621350761,2
    C--47632515(+) ATCCCC/TGTCTC 4 -- us2k16Minor allele frequency- T:0.00NA WA CSA 10
    rs711792981,2
    C--47632573(+) TTTTT-/T/TTT 
            
    AGACG
    7 -- us2k1 cds11NA 2
    rs1503694081,2
    C--47632699(+) GGCGTA/GTGCCA 4 -- us2k10--------
    rs1381500391,2
    --47632772(+) GTCTCA/GAACTC 4 -- us2k10--------
    rs1495523481,2
    --47632966(+) ATAGCA/GTTTCC 4 -- us2k10--------
    rs1443078371,2
    --47632974(+) TCCCTA/GTATTG 4 -- us2k10--------
    rs566997391,2
    C--47633061(+) TCTTT-/CTTT  
            
    TTTTT
    4 -- us2k10--------

    HapMap Linkage Disequilibrium report for SAE1 (47616531 - 47713893 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for SAE1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2718661CNV Deletion23290073
    esv2659430CNV Deletion23128226
    dgv650e199CNV Deletion23128226
    nsv512586CNV Loss21212237
    nsv833852CNV Loss17160897
    nsv833851CNV Loss17160897


    Human Gene Mutation Database (HGMD): SAE1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SAE1
    DNA2.0 Custom Variant and Variant Library Synthesis for SAE1

    (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: 613294    OMIM disorders: --

    7 diseases for SAE1:    About MalaCards
    adult dermatomyositis    color blindness    tetralogy of fallot    blindness
    dermatomyositis    myositis    multiple sclerosis

    2 diseases from the University of Copenhagen DISEASES database for SAE1:
    Adult dermatomyositis     Color blindness

    SAE1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SAE1

    Export disorders for SAE1 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 SAE1 gene, integrated from 9 sources (see all 48):
    (articles sorted by number of sources associating them with SAE1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and characterization of human AOS1 and UBA2, components of the sentrin-activating enzyme complex. (PubMed id 10217437)1, 2, 3, 9 Gong L.... Yeh E.T.H. (1999)
    2. In vitro SUMO-1 modification requires two enzymatic steps, E1 and E2. (PubMed id 9920803)1, 2, 3, 9 Okuma T.... Yasuda H. (1999)
    3. Identification of the enzyme required for activation of the small ubiquitin-like protein SUMO-1. (PubMed id 10187858)1, 2, 3 Desterro J.M.P.... Hay R.T. (1999)
    4. Genetic risk and a primary role for cell-mediated immu ne mechanisms in multiple sclerosis. (PubMed id 21833088)1, 4  ....Compston A. (2011)
    5. A general approach for investigating enzymatic pathways and substrates for ubiquitin-like modifiers. (PubMed id 16620772)1, 2 Li T....Chock P.B. (2006)
    6. Structures of the SUMO E1 provide mechanistic insights into SUMO activation and E2 recruitment to E1. (PubMed id 15660128)1, 2 Lois L.M. and Lima C.D. (2005)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. 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)
    9. Expression and regulation of the mammalian SUMO-1 E1 enzyme. (PubMed id 11481243)1, 2 Azuma Y....Dasso M. (2001)
    10. Polymeric chains of SUMO-2 and SUMO-3 are conjugated to protein substrates by SAE1/SAE2 and Ubc9. (PubMed id 11451954)1, 2 Tatham M.H.... Hay R.T. (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: 10055 HGNC: 30660 AceView: SAE1 Ensembl:ENSG00000142230 euGenes: HUgn10055
    ECgene: SAE1 Kegg: 10055 H-InvDB: SAE1

    (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 SAE1 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 SAE1 gene:
    Search GeneIP for patents involving SAE1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     Browse Small Molecules at EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     EMD Millipore Purified and/or Recombinant SAE1 Protein
     Browse for Gene Knock-down Tools from EMD Millipore
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Recombinant/Natural Proteins for SAE1 (SUMO Activating Enzyme E1 (SAE1/UBA2))  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for SAE1   OriGene RNAi products in human, mouse, rat for SAE1  
     OriGene qPCR primer pairs and template standards for SAE1   OriGene Protein Over-expression Lysate for SAE1  
     OriGene MassSpec something-or-other for SAE1   OriGene clones in human, mouse for SAE1  
     OriGene qSTAR qPCR primer pairs in human, mouse for SAE1   OriGene Purified Protein for SAE1  
     OriGene ORF clones in mouse, rat for SAE1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for SAE1   OriGene Custom Protein Services for SAE1  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SAE1
     QIAGEN SeqTarget long-range PCR primers for resequencing SAE1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SAE1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SAE1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SAE1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SAE1
     GenScript Custom Purified and Recombinant Proteins Services for SAE1 GenScript cDNA clones with any tag delivered in your preferred vector for SAE1
     GenScript Custom Assay Services for SAE1 GenScript Custom Superior Antibodies Services for SAE1
     GenScript Custom overexpressing Cell Line Services for SAE1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in SAE1 promoter
     Search Chromatin IP Primers for SAE1
     RT2 qPCR Primer Assay in human, mouse, rat SAE1
     GNC Network for SAE1
     SABiosciences PCR Arrays including human, mouse, rat SAE1
     Search Tocris compounds for SAE1
     Proteins and Antibodies for SAE1
     Cell Lysates for SAE1
     cDNA Clones for SAE1
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     SAE1 antibodies
     SAE1 proteins
     SAE1 lysates
     Antibodies for SAE1
     See all of Abcam's Antibodies, Kits and Proteins for SAE1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for SAE1




     Proteins for SAE1
     Antibodies for SAE1
     ELISAs for SAE1
     CLIAs for SAE1
     Search LifeMap BioReagents cell lines for SAE1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SAE1
     SwitchGear 3'UTR luciferase reporter plasmids for SAE1
     SwitchGear Promoter luciferase reporter plasmids for SAE1
     ThermoFisher Antibody for SAE1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SAE1
     inGenious Targeting Laboratory - Custom generated mouse model solutions for SAE1
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SAE1
    Customized:
     lentivirus for stable overexpression of SAE1
     lentivirus expression plasmids for stable overexpression of SAE1
     adenovirus for overexpression of SAE1
     LSBio Antibodies in human, mouse, rat for SAE1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      SAE1 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4