Human Gene SAE1 (uc002pgc.3)
  Description: Homo sapiens SUMO1 activating enzyme subunit 1 (SAE1), transcript variant 1, mRNA.
RefSeq Summary (NM_005500): 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].
Transcript (Including UTRs)
   Position: hg19 chr19:47,634,080-47,713,893 Size: 79,814 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr19:47,634,188-47,712,508 Size: 78,321 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:47,634,080-47,713,893)mRNA (may differ from genome)Protein (346 aa)
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UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SAE1_HUMAN
DESCRIPTION: RecName: Full=SUMO-activating enzyme subunit 1; AltName: Full=Ubiquitin-like 1-activating enzyme E1A;
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.
PATHWAY: Protein modification; protein sumoylation.
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.
INTERACTION: Q9UBT2:UBA2; NbExp=3; IntAct=EBI-743154, EBI-718569;
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Expression level increases during S phase and drops in G2 phase (at protein level).
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
SIMILARITY: Belongs to the ubiquitin-activating E1 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): SAE1
CDC HuGE Published Literature: SAE1
Positive Disease Associations: Multiple Sclerosis
Related Studies:
  1. Multiple Sclerosis
    Stephen Sawcer et al. Nature 2011, Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis., Nature. [PubMed 21833088]

-  MalaCards Disease Associations
  MalaCards Gene Search: SAE1
Diseases sorted by gene-association score: childhood type dermatomyositis (8), adult dermatomyositis (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 53.65 RPKM in Testis
Total median expression: 1144.96 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -52.90108-0.490 Picture PostScript Text
3' UTR -466.831385-0.337 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009036 - Molybdenum_cofac_synth_MoeB
IPR016040 - NAD(P)-bd_dom
IPR000594 - ThiF_NAD_FAD-bd
IPR000011 - UBQ/SUMO-activ_enz_E1-like

Pfam Domains:
PF00899 - ThiF family

SCOP Domains:
69572 - Activating enzymes of the ubiquitin-like proteins
51735 - NAD(P)-binding Rossmann-fold domains

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1Y8Q - X-ray MuPIT 1Y8R - X-ray MuPIT 3KYC - X-ray MuPIT 3KYD - X-ray


ModBase Predicted Comparative 3D Structure on Q9UBE0
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserGenome Browser
 Gene Details Gene DetailsGene DetailsGene Details
 Gene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsemblFlyBaseWormBaseSGD
 Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence
 AlignmentAlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004839 ubiquitin activating enzyme activity
GO:0005515 protein binding
GO:0008022 protein C-terminus binding
GO:0008047 enzyme activator activity
GO:0008641 small protein activating enzyme activity
GO:0016874 ligase activity
GO:0043008 ATP-dependent protein binding
GO:0044388 small protein activating enzyme binding
GO:0046982 protein heterodimerization activity
GO:0019948 SUMO activating enzyme activity

Biological Process:
GO:0006464 cellular protein modification process
GO:0016567 protein ubiquitination
GO:0016925 protein sumoylation
GO:0043085 positive regulation of catalytic activity
GO:1903955 positive regulation of protein targeting to mitochondrion

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0031510 SUMO activating enzyme complex


-  Descriptions from all associated GenBank mRNAs
  AK021978 - Homo sapiens cDNA FLJ11916 fis, clone HEMBB1000217, highly similar to Ubiquitin-like 1-activating enzyme E1A.
AK055481 - Homo sapiens cDNA FLJ30919 fis, clone FEBRA2006418, highly similar to Homo sapiens SUMO-1 activating enzyme subunit 1 (SAE1) mRNA.
AK302287 - Homo sapiens cDNA FLJ58436 complete cds, highly similar to Ubiquitin-like 1-activating enzyme E1A.
AK027595 - Homo sapiens cDNA FLJ14689 fis, clone NT2RP2005204, highly similar to Ubiquitin-like 1-activating enzyme E1A.
BC018271 - Homo sapiens SUMO1 activating enzyme subunit 1, mRNA (cDNA clone MGC:16956 IMAGE:3452340), complete cds.
BC000344 - Homo sapiens SUMO1 activating enzyme subunit 1, mRNA (cDNA clone MGC:8572 IMAGE:2823028), complete cds.
AF161489 - Homo sapiens HSPC140 mRNA, complete cds.
AK315624 - Homo sapiens cDNA, FLJ96708, Homo sapiens SUMO-1 activating enzyme subunit 1 (SAE1), mRNA.
AF090385 - Homo sapiens SUMO-1-activating enzyme E1 N subunit (SUA1) mRNA, complete cds.
AF046025 - Homo sapiens activation of Sentrin/SUMO protein AOS1 (AOS1) mRNA, complete cds.
AK090645 - Homo sapiens cDNA FLJ33326 fis, clone BNGH42008943, highly similar to Homo sapiens SUMO-1 activating enzyme subunit 1 (SAE1) mRNA.
BC003611 - Homo sapiens SUMO1 activating enzyme subunit 1, mRNA (cDNA clone MGC:1437 IMAGE:2988252), complete cds.
AB385085 - Synthetic construct DNA, clone: pF1KB5341, Homo sapiens SAE1 gene for SUMO-activating enzyme subunit 1, complete cds, without stop codon, in Flexi system.
DQ891751 - Synthetic construct clone IMAGE:100004381; FLH179581.01X; RZPDo839A03132D SUMO-1 activating enzyme subunit 1 (SAE1) gene, encodes complete protein.
DQ894932 - Synthetic construct Homo sapiens clone IMAGE:100009392; FLH179577.01L; RZPDo839A03131D SUMO-1 activating enzyme subunit 1 (SAE1) gene, encodes complete protein.
KJ898146 - Synthetic construct Homo sapiens clone ccsbBroadEn_07540 SAE1 gene, encodes complete protein.
BT007290 - Homo sapiens SUMO-1 activating enzyme subunit 1 mRNA, complete cds.
AF110956 - Homo sapiens SUMO-1 activating enzyme subunit 1 (SAE1) mRNA, complete cds.
BC128518 - Homo sapiens cDNA clone IMAGE:40118709.
BC128519 - Homo sapiens cDNA clone IMAGE:40118712.
JD073717 - Sequence 54741 from Patent EP1572962.
CU676224 - Synthetic construct Homo sapiens gateway clone IMAGE:100017052 5' read SAE1 mRNA.
JD272686 - Sequence 253710 from Patent EP1572962.
JD404790 - Sequence 385814 from Patent EP1572962.
JD549731 - Sequence 530755 from Patent EP1572962.
JD383028 - Sequence 364052 from Patent EP1572962.
JD419380 - Sequence 400404 from Patent EP1572962.
JD267157 - Sequence 248181 from Patent EP1572962.
JD552728 - Sequence 533752 from Patent EP1572962.
JD468667 - Sequence 449691 from Patent EP1572962.
JD254386 - Sequence 235410 from Patent EP1572962.
JD275398 - Sequence 256422 from Patent EP1572962.
JD074220 - Sequence 55244 from Patent EP1572962.
JD551660 - Sequence 532684 from Patent EP1572962.
JD507356 - Sequence 488380 from Patent EP1572962.
JD432018 - Sequence 413042 from Patent EP1572962.
JD241718 - Sequence 222742 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04120 - Ubiquitin mediated proteolysis

BioCarta from NCI Cancer Genome Anatomy Project
h_eradPathway - ER¿associated degradation (ERAD) Pathway
h_sumoPathway - Basic Mechanisms of SUMOylation
h_ctbp1Pathway - SUMOylation as a mechanism to modulate CtBP-dependent gene responses

Reactome (by CSHL, EBI, and GO)

Protein Q9UBE0 (Reactome details) participates in the following event(s):

R-HSA-2990833 Conjugation of SUMO1 to UBA2:SAE1
R-HSA-2993781 Conjugation of SUMO3 to UBA2:SAE1
R-HSA-2993784 Conjugation of SUMO2 to UBA2:SAE1
R-HSA-2993769 Transfer of SUMO3 from E1 to UBE2I (UBC9)
R-HSA-2993780 Transfer of SUMO1 from E1 to UBE2I (UBC9)
R-HSA-2993790 Transfer of SUMO2 from E1 to UBE2I (UBC9)
R-HSA-3065676 SUMO is conjugated to E1 (UBA2:SAE1)
R-HSA-3065678 SUMO is transferred from E1 to E2 (UBE2I, UBC9)
R-HSA-3215018 Processing and activation of SUMO
R-HSA-2990846 SUMOylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: AOS1, B2RDP5, NM_005500, NP_005491, O95717, Q9P020, Q9UBE0, SAE1_HUMAN, SUA1, UBLE1A
UCSC ID: uc002pgc.3
RefSeq Accession: NM_005500
Protein: Q9UBE0 (aka SAE1_HUMAN)
CCDS: CCDS12696.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_005500.2
exon count: 9CDS single in 3' UTR: no RNA size: 2538
ORF size: 1041CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2192.00frame shift in genome: no % Coverage: 99.84
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.