Aliases for SAE1 Gene
Aliases for SAE1 Gene
External Ids for SAE1 Gene
- HGNC: 30660
- Entrez Gene: 10055
- Ensembl: ENSG00000142230
- OMIM: 613294
- UniProtKB: Q9UBE0
Previous GeneCards Identifiers for SAE1 Gene
- GC19P048277
- GC19P048024
- GC19P052310
- GC19P052326
- GC19P052327
- GC19P052328
- GC19P047634
- GC19P044058
Summaries 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 Ogden Syndrome and Adult Dermatomyositis. Among its related pathways are SUMOylation and Ubiquitin mediated proteolysis. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and enzyme activator activity. An important paralog of this gene is NAE1.
UniProtKB/Swiss-Prot 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.
Additional gene information for SAE1 Gene
- Monarch Initiative
- Search for SAE1 at DataMed
- Search for SAE1 at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SAE1 Gene
Genomics for SAE1 Gene
GeneHancer (GH) Regulatory Elements for SAE1 Gene
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 UCSC Golden Path with GeneCards custom track
- 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
Genomic Locations for SAE1 Gene
- chr19:47,113,274-47,210,636
- (GRCh38/hg38)
- Size:
- 97,363 bases
- Orientation:
- Plus strand
- chr19:47,616,531-47,713,893
- (GRCh37/hg19)
- Size:
- 97,363 bases
- Orientation:
- Plus strand
Genomic View for SAE1 Gene
Genes around SAE1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19q13.32 by HGNC
- 19q13.32 by Entrez Gene
- 19q13.32 by Ensembl
SAE1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SAE1 Gene
Proteins for SAE1 Gene
-
Protein details for SAE1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9UBE0-SAE1_HUMAN
- Recommended name:
- SUMO-activating enzyme subunit 1
- Protein Accession:
- Q9UBE0
- 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
Protein Expression for SAE1 Gene
Post-translational modifications for SAE1 Gene
Other Protein References for SAE1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Atlas Antibodies Anti-SAE1 Antibody (HPA043552) and Anti-SAE1 Antibody (HPA041906)
- Novus Biologicals Antibodies for SAE1
-
Abcam antibodies for SAE1
- Invitrogen Antibodies for SAE1 (AFLGC-SAE1)
- antibodies-online: Search results for available SAE1 related products ranked by validation data
-
Boster Bio Antibodies for SAE1
-
Custom Antibody ServicesProSci Antibodies for SAE1
-
Santa Cruz Biotechnology (SCBT) Antibodies for SAE1
- Sino Biological Antibodies for SAE1
Protein Products
- Atlas Antibodies PrEST Antigen SAE1 (APrEST82726) and PrEST Antigen SAE1 (APrEST82725)
- Search Origene for MassSpec and Protein Over-expression Lysates for SAE1
- Origene Custom Protein Services for SAE1
- Sino Biological Recombinant Proteins for SAE1
- Sino Biological Cell Lysates for SAE1
- ProSpec Recombinant Proteins for SAE1
-
Abcam proteins for SAE1
Assay Products
- antibodies-online: Search results for 11 available SAE1 Elisa Kits ranked by validation data
- Compare Top SAE1 Elisa Kits
-
Quality Products:
-
Boster Bio ELISA Kits for SAE1
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
- Blocks:
- InterPro:
- ProtoNet:
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- Family:
-
- Belongs to the ubiquitin-activating E1 family.
Function for SAE1 Gene
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004839 | ubiquitin activating enzyme activity | TAS | 10187858 |
| GO:0005515 | protein binding | IPI | 15660128 |
| GO:0008022 | protein C-terminus binding | IDA | 10187858 |
| GO:0008047 | enzyme activator activity | TAS | 9920803 |
| GO:0008641 | ubiquitin-like modifier activating enzyme activity | IEA | -- |
Phenotypes for SAE1 Gene
- GenomeRNAi human phenotypes for SAE1:
-
- Increased shRNA abundance (Z-score > 2)
- Wnt reporter downregulated
- Decreased shRNA abundance (Z-score < -2)
- Increased cell death HMECs cells
- Negative genetic interaction between BLM-/- and BLM+/+
- Decreased viability in esophageal squamous lineage
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Synthetic lethal with Ras
- Decreased centriole number
- Increased Sindbis virus (SINV) infection
- Increased transferrin (TF) endocytosis
- Synthetic lethal with MLN4924 (a NAE inhibitor)
Animal Model Products
-
Taconic Biosciences Mouse Models for SAE1
- Cyagen custom Knockout/knockin (KOKI) mouse models for SAE1
-
CRISPR Products
-
OriGene CRISPR knockouts for SAE1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SAE1
- genomics-online: gRNA clones - Search results for 129 available SAE1 gene related products
- Overview of 129 available SAE1 gene related products
- Applied Biological Materials (abm): CRISPR Clones for SAE1 - Now 50% OFF >
- * SAE1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * SAE1 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for SAE1
miRNA for SAE1 Gene
- miRTarBase miRNAs that target SAE1
-
- hsa-mir-1229-3p (MIRT036348)
- hsa-mir-615-3p (MIRT040267)
- hsa-mir-324-3p (MIRT042940)
- hsa-mir-151a-3p (MIRT043603)
- hsa-mir-30a-5p (MIRT293782)
- hsa-mir-30c-5p (MIRT293783)
- hsa-mir-30d-5p (MIRT293784)
- hsa-mir-203a-5p (MIRT293785)
- hsa-mir-30b-5p (MIRT293786)
- hsa-mir-30e-5p (MIRT293788)
- hsa-mir-4266 (MIRT293789)
- hsa-mir-4695-5p (MIRT293790)
- hsa-mir-4779 (MIRT293791)
- hsa-mir-1273g-5p (MIRT293792)
- hsa-mir-6816-3p (MIRT293793)
- hsa-mir-3651 (MIRT399442)
- hsa-mir-6779-3p (MIRT399446)
- hsa-mir-7976 (MIRT399450)
- hsa-mir-651-5p (MIRT554500)
- hsa-mir-299-5p (MIRT554501)
- hsa-mir-103b (MIRT554502)
- hsa-mir-129-2-3p (MIRT554503)
- hsa-mir-129-1-3p (MIRT554504)
- hsa-mir-4687-5p (MIRT554505)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for SAE1
- Browse OriGene Inhibitory RNA Products For SAE1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SAE1
- genomics-online: shRNA clones - Search results for 129 available SAE1 gene related products
- Overview of 129 available SAE1 gene related products
Clone Products
-
- MG205319
- MR205319
- MR205319L1
- MR205319L1V
- MR205319L2
- MR205319L2V
- MR205319L3
- MR205319L3V
- MR205319L4
- MR205319L4V
- MR229267
- MR229422
- RC201820
- RC201820L1
- RC201820L1V
- RC201820L2
- RC201820L2V
- RC201820L3
- RC201820L3V
- RC201820L4
- RC201820L4V
- RC226908
- RC226908L1
- RC226908L1V
- RC226908L2
- RC226908L2V
- RC226908L3
- RC226908L3V
- RC226908L4
- RC226908L4V
- RC226930
- RC226930L1
- RC226930L1V
- RC226930L2
- RC226930L2V
- RC226930L3
- RC226930L3V
- RC226930L4
- RC226930L4V
- RC227950
- RC227950L1
- RC227950L1V
- RC227950L2
- RC227950L2V
- RC227950L3
- RC227950L3V
- RC227950L4
- RC227950L4V
- RC501820
- RG201820
- RG226908
- RG226930
- RG227950
- RR207212
- RR207212L1
- RR207212L1V
- RR207212L2
- RR207212L2V
- RR207212L3
- RR207212L3V
- RR207212L4
- RR207212L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SAE1
- Addgene plasmids for SAE1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SAE1
- Applied Biological Materials (abm): Clones for SAE1 - Now 50% OFF >
- * SAE1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * SAE1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 2 |
| mitochondrion | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | NAS | 10187858 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005737 | cytoplasm | IBA | 21873635 |
| GO:0031510 | SUMO activating enzyme complex | IDA,IBA | 15660128 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for SAE1 Gene
Pathways & Interactions for SAE1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | SUMOylation |
.95
|
|
| 2 | Metabolism of proteins | ||
| 3 | Proteolysis Putative SUMO-1 pathway | ||
| 4 | Ubiquitin mediated proteolysis | ||
| 5 | 4-1BB Pathway |
.30
|
|
Pathways by source for SAE1 Gene
6 Reactome pathways for SAE1 Gene
1 KEGG pathway for SAE1 Gene
2 GeneGo (Thomson Reuters) pathways for SAE1 Gene
1 Qiagen pathway for SAE1 Gene
1 GeneTex pathway for SAE1 Gene
UniProtKB/Swiss-Prot Q9UBE0-SAE1_HUMAN
- Pathway: Protein modification; protein sumoylation.
Interacting Proteins for SAE1 Gene
Selected Interacting proteins:
Q9UBE0-SAE1_HUMAN
ENSP00000270225
for SAE1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for SAE1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006464 | cellular protein modification process | IEA | -- |
| GO:0016567 | protein ubiquitination | TAS | 10187858 |
| GO:0016925 | protein sumoylation | IMP,TAS | -- |
| GO:0032446 | protein modification by small protein conjugation | IBA | 21873635 |
| GO:0043085 | positive regulation of catalytic activity | IEA | -- |
No data available for SIGNOR curated interactions for SAE1 Gene
Drugs & Compounds for SAE1 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| pyrophosphate |
|
14000-31-8 |
|
Drug Products
- Atlas Antibodies PrEST Antigen SAE1 (APrEST82726) and PrEST Antigen SAE1 (APrEST82725)
Transcripts for SAE1 Gene
mRNA/cDNA for SAE1 Gene
- (3) REFSEQ mRNAs :
- (23) Additional mRNA sequences :
- (739) Selected AceView cDNA sequences:
- (11) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000594144 723 bps (ENST00000594144.5)
- ENST00000594526 709 bps (ENST00000594526.5)
- ENST00000597808 570 bps (ENST00000597808.5)
- ENST00000413379 2313 bps (ENST00000413379.7)
- ENST00000600706 744 bps (ENST00000600706.5)
Unigene Clusters for SAE1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for SAE1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SAE1
- genomics-online: gRNA clones - Search results for 129 available SAE1 gene related products
- Overview of 129 available SAE1 gene related products
- Applied Biological Materials (abm): CRISPR Clones for SAE1 - Now 50% OFF >
- * SAE1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * SAE1 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for SAE1
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for SAE1
- Browse OriGene Inhibitory RNA Products For SAE1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SAE1
- genomics-online: shRNA clones - Search results for 129 available SAE1 gene related products
- Overview of 129 available SAE1 gene related products
Clone Products
-
- MG205319
- MR205319
- MR205319L1
- MR205319L1V
- MR205319L2
- MR205319L2V
- MR205319L3
- MR205319L3V
- MR205319L4
- MR205319L4V
- MR229267
- MR229422
- RC201820
- RC201820L1
- RC201820L1V
- RC201820L2
- RC201820L2V
- RC201820L3
- RC201820L3V
- RC201820L4
- RC201820L4V
- RC226908
- RC226908L1
- RC226908L1V
- RC226908L2
- RC226908L2V
- RC226908L3
- RC226908L3V
- RC226908L4
- RC226908L4V
- RC226930
- RC226930L1
- RC226930L1V
- RC226930L2
- RC226930L2V
- RC226930L3
- RC226930L3V
- RC226930L4
- RC226930L4V
- RC227950
- RC227950L1
- RC227950L1V
- RC227950L2
- RC227950L2V
- RC227950L3
- RC227950L3V
- RC227950L4
- RC227950L4V
- RC501820
- RG201820
- RG226908
- RG226930
- RG227950
- RR207212
- RR207212L1
- RR207212L1V
- RR207212L2
- RR207212L2V
- RR207212L3
- RR207212L3V
- RR207212L4
- RR207212L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SAE1
- Addgene plasmids for SAE1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SAE1
- Applied Biological Materials (abm): Clones for SAE1 - Now 50% OFF >
- * SAE1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * SAE1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
| 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: | - |
Expression for SAE1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
- Intermediate Mesoderm (Gastrulation Derivatives)
- Thyroid (Endocrine System)
- Kidney (Urinary System)
- Intestine (Gastrointestinal Tract)
- Pancreas (Endocrine System)
- Ovary (Reproductive System)
-
Uterus (Reproductive System)
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of SAE1 Gene:
SAE1SOURCE GeneReport for Unigene cluster for SAE1 Gene:
Hs.515500mRNA 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(4.7)
- Nervous system(4.7)
- Eye(4.6)
- Liver(4.5)
- Blood(4.3)
- Skin(4)
- Pancreas(2.8)
- Kidney(2.4)
Primer Products
-
OriGene qPCR primer pairs for SAE1
-
OriGene qPCR primer pairs and template standards for SAE1
- genomics-online: primer clones - Search results for 129 available SAE1 gene related products
- Overview of 129 available SAE1 gene related products
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SAE1 35 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | SAE1 35 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | SAE1 35 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Sae1 17 35 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | SAE1 35 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Sae1 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | SAE1 35 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | SAE1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | sae1 34 |
|
||
| Str.7505 34 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.7420 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | sae1 35 34 |
|
OneToOne | |
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.4380 34 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004459 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Aos1 35 36 34 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | aos-1 35 36 34 |
|
OneToOne | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | AOS1 37 35 34 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E04863g 34 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | SAE1B 34 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os11g0497000 34 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU09006 34 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | rad31 34 |
|
- Species where no ortholog for SAE1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 squirt (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
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
Variants for SAE1 Gene
| SNP ID | Clin | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000001417 | -- | 47,211,122(+) | G/A | downstream_transcript_variant | |
| rs1000024363 | -- | 47,192,017(+) | G/A | genic_downstream_transcript_variant, intron_variant | |
| rs1000088314 | -- | 47,194,845(+) | T/A | genic_downstream_transcript_variant, intron_variant | |
| rs1000110305 | -- | 47,174,005(+) | C/T | intron_variant | |
| rs1000122699 | -- | 47,206,863(+) | A/G | genic_downstream_transcript_variant, intron_variant |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SAE1 Gene
Disorders for SAE1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| ogden syndrome |
|
|
| adult dermatomyositis |
|
|
Search SAE1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for SAE1
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for SAE1 Gene
Publications for SAE1 Gene
- 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 23 58
- 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 23 58
- 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 58
- 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 45 58
- Active site remodelling accompanies thioester bond formation in the SUMO E1. (PMID: 20164921) Olsen SK … Lima CD (Nature 2010) 3 4 58
ExternalLinks
Products for SAE1 Gene
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Sources for SAE1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) UniGene
- (28) AceView
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) HGMD
- (45) GAD
- (46) BGMUT
- (47) HuGE
- (48) Atlas
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) OCA
- (69) Proteopedia
- (70) MOPED
- (71) neXtProt
- (72) Reactome
- (73) GeneGo (Thomson Reuters)
- (74) fRNAdb
- (75) DISEASES
- (76) SIMAP
- (77) GenomeRNAi
- (78) LifeMap
- (79) miRTarBase
- (80) MalaCards
- (81) Invitrogen
- (82) BitterDB
- (83) ESI-BIO
- (84) RefSeq
- (85) BioSystems
- (86) MaxQB
- (87) IUPHAR
- (88) BioGPS
- (89) Illumina
- (90) COMPARTMENTS
- (91) HOMER
- (92) PaxDb
- (93) ApexBio
- (94) Addgene
- (95) antibodies-online
- (96) CYP
- (97) NONCODE
- (98) SwitchGear Genomics
- (99) TreeFam
- (100) PathCards
- (101) GeneReviews
- (102) GeneTex
- (103) Taconic Biosciences
- (104) GTEx
- (105) ProteomicsDB
- (106) SCBT
- (107) DGIdb
- (108) ClinicalTrials
- (109) FDA Approved Drugs
- (110) RVIS
- (111) SIGNOR
- (112) diseasecard
- (113) NIH Rare Diseases
- (114) Orphanet
- (115) UMLS
- (116) GTR
- (117) Disease Ontology
- (118) Genetics Home Reference
- (119) MeSH
- (120) MedlinePlus
- (121) CDC
- (122) NINDS
- (123) NCBI Bookshelf
- (124) ClinVar
- (125) Gene Damage Index
- (126) ViGene Biosciences
- (127) HPO
- (128) UDN
- (129) VISTA
- (130) FANTOM5
- (131) ENCODE
- (132) ProSci
- (133) Horizon
- (134) NURSA
- (135) IID
- (136) Cyagen
- (137) VectorBuilder
- (138) SNPedia
- (139) BRCA Exchange
- (140) St John's Lab
- (141) CIViC
- (142) ProteoGenix
- (143) dbSUPER
- (144) TISSUES
- (145) Gene ORGANizer
- (146) abm
- (147) CrownBio
- (148) Human Protein Atlas
- (149) GWAS Catalog
- (150) Monarch Initiative
- (151) DataMed
- (152) HumanCyc
- (153) genomics-online
- (154) UCNEbase
- (155) EPDnew
- (156) Applied Biosystems
- (157) GlyConnect
- (158) Aminode
- (159) GeneCopoeia
- (160) GPS-Prot
- (161) RNACentral
- (162) LncRNADisease
- (163) LOVD
- (164) miR2Disease
- (165) DiseaseEnhancer
- (166) Boster Bio
- (167) Biorbyt
- (168) Biocompare
- (169) Mastermind