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

SAE1 Gene

protein-coding   GIFtS: 65
GCID: GC19P047634

SUMO1 activating enzyme subunit 1
 Explore 4 diseases affiliated with
SAE1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SAE1    

Aliases
for SAE1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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     HSPC1402
AOS11 2 3 5     Activator Of SUMO12
SUA12 3 5     Sentrin/SUMO-Activating Protein AOS12
Ubiquitin-Like 1-Activating Enzyme E1A2 3     SUMO-1 Activating Enzyme E1 N Subunit2
UBLE1A2 3     SUMO-1 Activating Enzyme Subunit 12
FLJ30911     SUMO-Activating Enzyme Subunit 12
Sua11     Ubiquitin-Like Protein SUMO-1 Activating Enzyme2

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

Export aliases for SAE1 gene to outside databases

Previous GC identifers: GC19P048277 GC19P048024 GC19P052310 GC19P052326 GC19P052327 GC19P052328 GC19P044058


Summaries
for SAE1 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  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 plasmid: SAE1 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:
 47,634,080 bp from pter      End:
 47,713,893 bp from pter
Size:
 79,814 bases      Orientation:
 plus strand

Proteins
for SAE1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UBE0

    • SAE1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000416557   ENSP00000270225   ENSP00000440818   ENSP00000398818   ENSP00000440955  

    Human Recombinant Protein Products: 
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    Novus Biologicals SAE1 Proteins
    Novus Biologicals SAE1 Lysates
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for SAE1
    Uscn Proteins for SAE1

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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


    SAE1 for ontologies           About GeneDecksing



    SAE1 Antibody Products: 
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    Novus Biologicals SAE1 Antibodies
    Abcam antibodies for SAE1 
    Uscn Antibodies for SAE1
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    Uscn ELISAs and CLIAs for SAE1

    Protein Domains /
    Families
    for SAE1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SAE1 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 family: IPB000594 UBA/THIF-type NAD/FAD binding fold

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


    Function
    for SAE1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
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    hsa-miR-4252 hsa-miR-500a hsa-miR-371-5p
    SwitchGear 3'UTR luciferase reporter plasmid: SAE1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    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:0000166nucleotide binding IEA--
    GO:0004839ubiquitin activating enzyme activity TAS10187858
    GO:0005515protein binding IPI16189514
    GO:0008022protein C-terminus binding IDA10187858
    GO:0008047enzyme activator activity TAS9920803


    SAE1 for ontologies           About GeneDecksing


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


    Pathways & Interactions
    for SAE1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Proteolysis Putative SUMO-1 pathway
    		Proteolysis Putative SUMO-1 pathway1.00
    		Proteolysis_Putative SUMO-1 pathway0.97
    2DNA damage Role of SUMO in p53 regulation
    		DNA damage Role of SUMO in p53 regulation1.00
    		DNA damage_Role of SUMO in p53 regulation0.95
    3Antigen processing: Ubiquitination & Proteasome degradation
    		Ubiquitin mediated proteolysis0.36
    44-1BB Pathway
    		SUMO Pathway0.30

    Pathway sources
    See GeneCards unified pathways
    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


    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)

    5/57 Interacting proteins for SAE1 (Q9UBE01, 2, 3 ENSP000002702254) via UniProtKB, MINT, STRING, and/or I2D (see all 57)

    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
    POLR2GP624873, ENSP000003017884I2D: score=4 STRING: ENSP00000301788
    PSMB6P280723, ENSP000002705864I2D: score=3 STRING: ENSP00000270586
    SUMO3P558543, ENSP000003303434I2D: score=3 STRING: ENSP00000330343
    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 IEA--
    GO:0043085positive regulation of catalytic activity TAS9920803


    SAE1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SAE1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 

    Transcripts
    for SAE1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000413379(uc010ekx.3) ENST00000270225(uc002pgc.3 uc010ekw.3 uc010xyk.2 uc002pge.3)
    ENST00000392776(uc002pgd.3) ENST00000414294 ENST00000540850

    miRNA
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    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 plasmid: SAE1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SAE1 (see all 7)
    OriGene shRNA RFP: SAE1
    OriGene siRNA: SAE1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SAE1
    Clone
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SAE1

    Additional cDNA 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):

    BU181837 BU155711 AA633178 CB127803 AW273066 BC018271 CR622180 BQ435364 
    BQ649084 BE312290 BE617185 CB216444 AK090645 BU195018 CB130925 CA307105 
    BX440594 BE888771 AA385752 BG575158 AA236737 AI361334 BM705951 BM670231 

    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

    Expression
    for SAE1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CGGCTCAAGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SAE1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyMetanephrosKidney
    Reproductive SystemMesonephrosReproductive System
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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
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    In Situ
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    Orthologs
    for SAE1 gene

    (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 9/31 species (see all 31)    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
    		 --
    		 77(a)
    		 1 ↔ 1
    		 LGf(1745073-1758123)
    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
    for SAE1 gene

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

    SAE1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SAE1
    PGOHUM00000242913


    Genomic Variants
    for SAE1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1267 NCBI SNPs in SAE1 are shown (see all 1267)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 19 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1398583971,2
    		C,unknown47678262(+) 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
    rs1503694081,2
    		--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--------
    rs2006196641,2
    		--47633061(+) CCTTC-/CTTT  
                CTTTC     		4 -- us2k10--------
    rs566997391,2
    		C--47633081(+) TCTTT-/CTTT  
                TTTTT     		4 -- us2k10--------

    HapMap Linkage Disequilibrium report for SAE1 (47634080 - 47713893 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SAE1: --

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for SAE1 gene

    (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.)
    About This Section
    SAE1 for disorders           About GeneDecksing

    OMIM gene information: 613294    OMIM disorders: --

    4 diseases for SAE1:    About MalaCards
    color blindness    tetralogy of fallot    blindness    malaria

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

    Export disorders for SAE1 gene to outside databases

    Publications
    for SAE1 gene

    (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 43):
    (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. A general approach for investigating enzymatic pathways and substrates for ubiquitin-like modifiers. (PubMed id 16620772)1, 2 Li T....Chock P.B. (2006)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. 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)
    8. Expression and regulation of the mammalian SUMO-1 E1 enzyme. (PubMed id 11481243)1, 2 Azuma Y....Dasso M. (2001)
    9. 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)
    10. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2 Zhang Q.-H.... Chen Z. (2000)

    External Searches for SAE1 gene

    (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)

    Genome Databases showing SAE1 gene

    (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

    Other Databases showing SAE1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SAE1 gene

    (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

    Intellectual Property
    for SAE1 gene

    (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



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