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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)
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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   

Export aliases for SAE1 gene to outside databases

Previous GC identifers: GC19P048277 GC19P048024 GC19P052310 GC19P052326 GC19P052327 GC19P052328 GC19P044058


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for 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. Diseases associated with SAE1 include adult dermatomyositis, and color blindness. GO annotations related to this gene include protein heterodimerization activity and ligase activity.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000019.10  NT_011109.17  NC_018930.2  
Regulatory elements:
   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 Chromatin IP Primers for SAE1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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: 

  • Ubiquitination2 at Lys32, Lys53, Lys183, Lys195, Lys198, Lys335
  • Modification sites at PhosphoSitePlus

  • See SAE1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    SAE1 Human Recombinant Protein Products:

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    Novus Biologicals SAE1 Proteins
    Novus Biologicals SAE1 Lysates
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    Sino Biological Cell Lysate for SAE1
    ProSpec Recombinant Protein for SAE1
    Cloud-Clone Corp. Proteins for SAE1

    SAE1 Antibody Products:

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

    4 InterPro protein domains:
     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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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): Selected molecular function terms (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:
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SAE1

    miRNA
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    miRTarBase miRNAs that target SAE1:
    hsa-mir-1229-3p (MIRT036348), hsa-mir-151a-3p (MIRT043603), hsa-mir-615-3p (MIRT040267), hsa-mir-324-3p (MIRT042940)

    Block miRNA regulation of human, mouse, rat SAE1 using miScript Target Protectors
    3 qRT-PCR 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
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SAE1_HUMAN, Q9UBE0: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    chloroplast1
    mitochondrion1

    Gene Ontology (GO): 4 cellular component terms:    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


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SAE1 About    
    See pathways by source

    SuperPathContained pathways About
    1Processing and Activation of SUMO
    Processing and Activation of SUMO
    Transfer of SUMO from E1 to E2 (UBE2I, UBC9)0.00
    Conjugation of SUMO to E1 (UBA2-SAE1)0.00
    SUMOylation0.00
    2Proteolysis Putative SUMO 1 pathway
    DNA damage Role of SUMO in p53 regulation0.33
    Proteolysis Putative SUMO 1 pathway0.33
    3Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Post-translational protein modification0.43
    Metabolism of proteins0.30
    4Class I MHC mediated antigen processing and presentation
    Ubiquitin mediated proteolysis0.35
    54-1BB Pathway
    SUMO Pathway0.30

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe 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


    2 Reactome Pathways for SAE1
        SUMO is transferred from E1 to E2 (UBE2I, UBC9)
    SUMO is conjugated to E1 (UBA2:SAE1)


    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

        Pathway & Disease-focused RT2 Profiler PCR Array including SAE1: 

              Ubiquitination (Ubiquitylation) Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SAE1

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

    Selected Interacting proteins for SAE1 (Q9UBE01, 2, 3 ENSP000002702254) via UniProtKB, MINT, STRING, and/or I2D (see all 111)
    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
    ENSG00000206454Q018603, ENSP000003730164I2D: score=1 STRING: ENSP00000373016
    ENSG00000229094Q018603, ENSP000003888424I2D: score=1 STRING: ENSP00000388842
    ENSG00000230336Q018603, ENSP000004000474I2D: score=1 STRING: ENSP00000400047
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    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
    GO:0043687post-translational protein modification TAS--

    SAE1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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--



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for 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
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    hsa-miR-4252 hsa-miR-500a hsa-miR-371-5p
    SwitchGear 3'UTR luciferase reporter plasmidSAE1 3' UTR sequence
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      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 

    Selected 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 

    Selected AceView cDNA sequences (see all 739):

    AA939182 AA541297 BU855744 AA604261 BQ892552 AL045365 BU149561 CD244609 
    BE794143 CA396398 AA236737 BQ055981 BQ670034 AA309007 AA922736 BQ228018 
    AI589540 BQ052692 BG325377 BE888771 CR612586 BU190133 AL552980 BU155711 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SAE1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Kidney (Urinary System)
             Metanephros
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    SAE1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SAE1 Protein Expression

    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)

        Pathway & Disease-focused RT2 Profiler PCR Array including SAE1: 
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat

    Primer
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    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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SAE1 gene from Selected 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_001285891.11  NP_001272820.11 
     163270545 
    lizard
    (Anolis carolinensis)
    Reptilia SAE16
    SUMO1 activating enzyme subunit 1
    78(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
    aos-11
    30(a)3
    44.17(n)1
    32.52(a)1
      V(10130268-10132861)3
    1794091  NM_073203.41  NP_505604.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes AOS1(YPR180W)4
    AOS11
    Subunit of a heterodimeric nuclear SUMO activating more4
    AOS11
    46.18(n)1
    36.94(a)1
      16(895961-897004)4
    8563101, 4  NP_015506.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons SAE1B1 SAE1B 49.78(n)
    37.91(a)
      835127  NM_180831.2  NP_851162.1 
    rice
    (Oryza sativa)
    Liliopsida Os11g04970001 Os11g0497000 48.98(n)
    36.57(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)
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    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SAE1 (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
    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 613294    OMIM disorders: --

    12 diseases for SAE1:    
    About MalaCards
    adult dermatomyositis    color blindness    dermatomyositis    tetralogy of fallot
    blindness    myositis    multiple sclerosis    tonsillitis
    thyroiditis    malaria    cerebritis    endotheliitis

    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)
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    PubMed articles for SAE1 gene, integrated from 10 sources (see all 50):
    (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. (FEBS Lett. 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. (Biochem. Biophys. Res. Commun. 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. (J. Biol. Chem. 1999)
    4. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. (PubMed id 21833088)1, 4  ....Compston A. (Nature 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. (Arch. Biochem. Biophys. 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. (EMBO J. 2005)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Expression and regulation of the mammalian SUMO-1 E1 enzyme. (PubMed id 11481243)1, 2 Azuma Y....Dasso M. (FASEB J. 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. (J. Biol. Chem. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10055 HGNC: 30660 AceView: SAE1 Ensembl:ENSG00000142230 euGenes: HUgn10055
    ECgene: SAE1 Kegg: 10055 H-InvDB: SAE1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SAE1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for 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



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