SAE1 Gene (Protein Coding)

SUMO1 Activating Enzyme Subunit 1

GC19P047114
GIFtS:
45
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] See more...

Aliases for SAE1 Gene

Aliases for SAE1 Gene

  • SUMO1 Activating Enzyme Subunit 1 2 3 5
  • AOS1 2 3 4
  • Ubiquitin-Like 1-Activating Enzyme E1A 3 4
  • SUMO-Activating Enzyme Subunit 1 3 4
  • UBLE1A 3 4
  • SUA1 3 4
  • Ubiquitin-Like Protein SUMO-1 Activating Enzyme 3
  • SUMO-1 Activating Enzyme E1 N Subunit 3
  • Sentrin/SUMO-Activating Protein AOS1 3
  • SUMO-1 Activating Enzyme Subunit 1 3
  • Activator Of Sumo 1 2
  • Activator Of SUMO1 3
  • HSPC140 3
  • FLJ3091 2
  • SAE1 5
  • Sua1 2

External Ids for SAE1 Gene

Previous GeneCards Identifiers for SAE1 Gene

  • GC19P048277
  • GC19P048024
  • GC19P052310
  • GC19P052326
  • GC19P052327
  • GC19P052328
  • GC19P047634
  • GC19P044058

Summaries for SAE1 Gene

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. Among its related pathways are 4-1BB Pathway and SUMOylation. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and enzyme activator activity. An important paralog of this gene is UBA1.

UniProtKB/Swiss-Prot Summary for SAE1 Gene

  • The heterodimer acts as an 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.

Tocris Summary for SAE1 Gene

Gene Wiki entry for SAE1 Gene

Additional gene information for SAE1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SAE1 Gene

Genomics for SAE1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for SAE1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SAE1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SAE1

Top Transcription factor binding sites by QIAGEN in the SAE1 gene promoter:
  • c-Myb
  • CUTL1
  • E2F-1
  • Egr-1
  • Egr-2
  • Egr-3
  • GATA-1
  • Pax-2
  • Pax-2a
  • Sp1

Genomic Locations for SAE1 Gene

Latest Assembly
chr19:47,113,274-47,210,636
(GRCh38/hg38)
Size:
97,363 bases
Orientation:
Plus strand

Previous Assembly
chr19:47,634,092-47,713,893
(GRCh37/hg19 by Entrez Gene)
Size:
79,802 bases
Orientation:
Plus strand

chr19:47,616,531-47,713,886
(GRCh37/hg19 by Ensembl)
Size:
97,356 bases
Orientation:
Plus strand

Genomic View for SAE1 Gene

Genes around SAE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SAE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SAE1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SAE1 Gene

Proteins for SAE1 Gene

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  • Protein details for SAE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBE0-SAE1_HUMAN
    Recommended name:
    SUMO-activating enzyme subunit 1
    Protein Accession:
    Q9UBE0
    Secondary Accessions:
    • B2RDP5
    • B3KMQ2
    • F5GXX7
    • G3XAK6
    • O95717
    • Q9P020

    Protein attributes for SAE1 Gene

    Size:
    346 amino acids
    Molecular mass:
    38450 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for SAE1 Gene

    Alternative splice isoforms for SAE1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SAE1 Gene

Protein Expression for SAE1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SAE1 Gene

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

Other Protein References for SAE1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SAE1 Gene

Domains & Families for SAE1 Gene

Gene Families for SAE1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SAE1 Gene

InterPro:
Blocks:
  • UBA/THIF-type NAD/FAD binding fold

Suggested Antigen Peptide Sequences for SAE1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ14689 fis, clone NT2RP2005204, highly similar to Ubiquitin-like 1-activating enzyme E1A (B3KNJ4_HUMAN)
  • cDNA FLJ58436, highly similar to Ubiquitin-like 1-activating enzyme E1A (B4DY66_HUMAN)
  • Ubiquitin-like 1-activating enzyme E1A (SAE1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UBE0

UniProtKB/Swiss-Prot:

SAE1_HUMAN :
  • Belongs to the ubiquitin-activating E1 family.
Family:
  • Belongs to the ubiquitin-activating E1 family.
genes like me logo Genes that share domains with SAE1: view

Function for SAE1 Gene

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  6. Cell Lines for research

Molecular function for SAE1 Gene

UniProtKB/Swiss-Prot Function:
The heterodimer acts as an 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.

Phenotypes From GWAS Catalog for SAE1 Gene

Gene Ontology (GO) - Molecular Function for SAE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004839 ubiquitin activating enzyme activity TAS 10187858
GO:0005515 protein binding IPI 10187858
GO:0008022 protein C-terminus binding IDA 10187858
GO:0008047 enzyme activator activity TAS 9920803
GO:0008641 ubiquitin-like modifier activating enzyme activity IEA --
genes like me logo Genes that share ontologies with SAE1: view
genes like me logo Genes that share phenotypes with SAE1: view

Animal Models for research

  • Taconic Biosciences Mouse Models for SAE1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SAE1

Clone products for research

  • Addgene plasmids for SAE1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SAE1 Gene

Localization for SAE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SAE1 Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SAE1 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 2
mitochondrion 2
plasma membrane 1
extracellular 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SAE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,HDA 16791210
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IBA 21873635
GO:0031510 SUMO activating enzyme complex IBA,IDA 10187858
genes like me logo Genes that share ontologies with SAE1: view

Pathways & Interactions for SAE1 Gene

genes like me logo Genes that share pathways with SAE1: view

Pathways by source for SAE1 Gene

1 KEGG pathway for SAE1 Gene
2 GeneGo (Thomson Reuters) pathways for SAE1 Gene
  • DNA damage Role of SUMO in p53 regulation
  • Proteolysis Putative SUMO-1 pathway
1 Qiagen pathway for SAE1 Gene
  • SUMO Pathway
1 GeneTex pathway for SAE1 Gene

UniProtKB/Swiss-Prot Q9UBE0-SAE1_HUMAN

  • Pathway: Protein modification; protein sumoylation.

Gene Ontology (GO) - Biological Process for SAE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006464 cellular protein modification process IEA --
GO:0016567 protein ubiquitination IEA --
GO:0016925 protein sumoylation IBA,TAS --
GO:0018215 protein phosphopantetheinylation IEA --
GO:0032446 protein modification by small protein conjugation IBA 21873635
genes like me logo Genes that share ontologies with SAE1: view

No data available for SIGNOR curated interactions for SAE1 Gene

Drugs & Compounds for SAE1 Gene

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(3) Drugs for SAE1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved, Investigational Nutra 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0

(1) Additional Compounds for SAE1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
 14000-31-8
genes like me logo Genes that share compounds with SAE1: view

Transcripts for SAE1 Gene

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mRNA/cDNA for SAE1 Gene

3 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SAE1

Clone products for research

  • Addgene plasmids for SAE1

Alternative Splicing Database (ASD) splice patterns (SP) for SAE1 Gene

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: - - - - - - -
SP6: - - - -
SP7: - -
SP8:
SP9: - -
SP10: -

Relevant External Links for SAE1 Gene

GeneLoc Exon Structure for
SAE1

Expression for SAE1 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SAE1 Gene

mRNA expression in normal human tissues for SAE1 Gene
mRNA expression by GTEx for SAE1 GenemRNA expression by BioGPS for SAE1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SAE1 Gene

This gene is overexpressed in Bone (7.2) and Peripheral blood mononuclear cells (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SAE1 Gene



Protein tissue co-expression partners for SAE1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SAE1

SOURCE GeneReport for Unigene cluster for SAE1 Gene:

Hs.515500

mRNA Expression by UniProt/SwissProt for SAE1 Gene:

Q9UBE0-SAE1_HUMAN
Tissue specificity: Expression level increases during S phase and drops in G2 phase (at protein level).

Evidence on tissue expression from TISSUES for SAE1 Gene

  • Lung(4.8)
  • Intestine(4.8)
  • Nervous system(4.7)
  • Eye(4.7)
  • Liver(4.6)
  • Blood(4.5)
  • Skin(4.2)
  • Kidney(3.1)
  • Pancreas(2.8)
  • Thyroid gland(2.4)
  • Muscle(2.3)
  • Lymph node(2.1)
  • Heart(2.1)
  • Spleen(2)
genes like me logo Genes that share expression patterns with SAE1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SAE1 Gene

Orthologs for SAE1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SAE1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia SAE1 29 30
  • 99.81 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia SAE1 29 30
  • 92.1 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia SAE1 29 30
  • 91.5 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Sae1 29 16 30
  • 87.57 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia SAE1 30
  • 87 (a)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Sae1 29
  • 86.71 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia SAE1 30
  • 85 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia SAE1 30
  • 78 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia sae1 29
  • 73.84 (n)
Str.7505 29
African clawed frog
(Xenopus laevis)
 Amphibia Xl.7420 29
Zebrafish
(Danio rerio)
 Actinopterygii sae1 29 30
  • 69 (n)
 OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.4380 29
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP004459 29
  • 53.82 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta Aos1 29 30 31
  • 50.15 (n)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea aos-1 29 30 31
  • 44.17 (n)
 OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes AOS1 29 30 32
  • 46.18 (n)
 OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0E04863g 29
  • 45.68 (n)
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons SAE1B 29
  • 49.78 (n)
Rice
(Oryza sativa)
 Liliopsida Os11g0497000 29
  • 48.98 (n)
Bread mold
(Neurospora crassa)
 Ascomycetes NCU09006 29
  • 47.41 (n)
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes rad31 29
  • 43.99 (n)
Species where no ortholog for SAE1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SAE1 Gene

ENSEMBL:
Gene Tree for SAE1 (if available)
TreeFam:
Gene Tree for SAE1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SAE1: view image
Alliance of Genome Resources:
Additional Orthologs for SAE1

Paralogs for SAE1 Gene

Paralogs for SAE1 Gene

(2) SIMAP similar genes for SAE1 Gene using alignment to 10 proteins:

  • SAE1_HUMAN
  • B3KNJ4_HUMAN
  • B4DY66_HUMAN
  • M0QX65_HUMAN
  • M0QYM8_HUMAN
  • M0QYP2_HUMAN
  • M0QZS6_HUMAN
  • M0R054_HUMAN
  • M0R286_HUMAN
  • M0R375_HUMAN

Pseudogenes.org Pseudogenes for SAE1 Gene

genes like me logo Genes that share paralogs with SAE1: view

Variants for SAE1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SAE1 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs117605411 Benign: not provided 47,197,285(+) T/C
NM_005500.3(SAE1):c.786T>C (p.Tyr262=) 		NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SAE1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SAE1 Gene

Variant ID Type Subtype PubMed ID
dgv650e199 CNV deletion 23128226
esv2659430 CNV deletion 23128226
esv2718661 CNV deletion 23290073
esv3556490 CNV deletion 23714750
esv3644546 CNV loss 21293372
esv3644547 CNV loss 21293372
esv3644548 CNV loss 21293372
nsv1067417 CNV gain 25217958
nsv1116337 CNV deletion 24896259
nsv1131432 CNV deletion 24896259
nsv1138713 CNV deletion 24896259
nsv512586 CNV loss 21212237
nsv833851 CNV loss 17160897
nsv833852 CNV loss 17160897

Variation tolerance for SAE1 Gene

Residual Variation Intolerance Score: 81.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.78; 33.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SAE1 Gene

Human Gene Mutation Database (HGMD)
SAE1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SAE1
Leiden Open Variation Database (LOVD)
SAE1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SAE1 Gene

Disorders for SAE1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SAE1 Gene - From: COP

Disorder Aliases PubMed IDs
adult dermatomyositis
  • adult onset dermatomyositis
- elite association - COSMIC cancer census association via MalaCards
Search SAE1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SAE1

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SAE1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SAE1 Gene

Publications for SAE1 Gene

  1. In vitro SUMO-1 modification requires two enzymatic steps, E1 and E2. (PMID: 9920803) Okuma T … Yasuda H (Biochemical and biophysical research communications 1999) 2 3 4 22
  2. Molecular cloning and characterization of human AOS1 and UBA2, components of the sentrin-activating enzyme complex. (PMID: 10217437) Gong L … Yeh ET (FEBS letters 1999) 2 3 4 22
  3. Identification of the enzyme required for activation of the small ubiquitin-like protein SUMO-1. (PMID: 10187858) Desterro JM … Hay RT (The Journal of biological chemistry 1999) 2 3 4
  4. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. (PMID: 21833088) International Multiple Sclerosis Genetics Consortium … Compston A (Nature 2011) 3 40
  5. Active site remodelling accompanies thioester bond formation in the SUMO E1. (PMID: 20164921) Olsen SK … Lima CD (Nature 2010) 3 4

ExternalLinks

View latest publications for SAE1 gene in Mastermind

Products for SAE1 Gene

  • Addgene plasmids for SAE1

Sources for SAE1 Gene