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 (MIM 613294) and UBA2 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 UBA2 Gene

Aliases for UBA2 Gene

  • Ubiquitin Like Modifier Activating Enzyme 2 2 3 5
  • Anthracycline-Associated Resistance ARX 3 4
  • Ubiquitin-Like 1-Activating Enzyme E1B 3 4
  • SUMO1 Activating Enzyme Subunit 2 2 3
  • SUMO-Activating Enzyme Subunit 2 3 4
  • HRIHFB2115 2 3
  • SAE2 3 4
  • UBA2, Ubiquitin-Activating Enzyme E1 Homolog (Yeast) 2
  • UBA2, Ubiquitin-Activating Enzyme E1 Homolog 3
  • Ubiquitin-Like Modifier Activating Enzyme 2 2
  • Ubiquitin-Like Modifier-Activating Enzyme 2 4
  • SUMO-1 Activating Enzyme Subunit 2 3
  • EC 2.3.2.- 4
  • FLJ13058 2
  • EC 6.3.2 51
  • UBLE1B 4
  • UBA2 5
  • ARX 3

External Ids for UBA2 Gene

Previous HGNC Symbols for UBA2 Gene

  • SAE2

Previous GeneCards Identifiers for UBA2 Gene

  • GC19P035536
  • GC19P035368
  • GC19P039595
  • GC19P039611
  • GC19P034919
  • GC19P031425

Summaries for UBA2 Gene

Entrez Gene Summary for UBA2 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 (MIM 613294) and UBA2 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 UBA2 Gene

UBA2 (Ubiquitin Like Modifier Activating Enzyme 2) is a Protein Coding gene. Diseases associated with UBA2 include Xeroderma Pigmentosum, Complementation Group C and Parkinson Disease 7, Autosomal Recessive Early-Onset. Among its related pathways are Metabolism of proteins and SUMOylation. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and transcription factor binding. An important paralog of this gene is UBA1.

UniProtKB/Swiss-Prot Summary for UBA2 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.

Gene Wiki entry for UBA2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UBA2 Gene

Genomics for UBA2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for UBA2 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 UBA2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UBA2

Top Transcription factor binding sites by QIAGEN in the UBA2 gene promoter:
  • C/EBPalpha
  • CUTL1
  • HFH-1
  • HOXA5
  • Ik-1
  • NF-kappaB1
  • POU2F1
  • POU2F1a
  • PPAR-alpha
  • XBP-1

Genomic Locations for UBA2 Gene

Genomic Locations for UBA2 Gene
chr19:34,428,176-34,471,251
(GRCh38/hg38)
Size:
43,076 bases
Orientation:
Plus strand
chr19:34,919,257-34,960,853
(GRCh37/hg19)
Size:
41,597 bases
Orientation:
Plus strand

Genomic View for UBA2 Gene

Genes around UBA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBA2 Gene

Proteins for UBA2 Gene

  • Protein details for UBA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBT2-SAE2_HUMAN
    Recommended name:
    SUMO-activating enzyme subunit 2
    Protein Accession:
    Q9UBT2
    Secondary Accessions:
    • B3KWB9
    • O95605
    • Q59H87
    • Q6IBP6
    • Q9NTJ1
    • Q9UED2

    Protein attributes for UBA2 Gene

    Size:
    640 amino acids
    Molecular mass:
    71224 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 UBA2 Gene

    Alternative splice isoforms for UBA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UBA2 Gene

Selected DME Specific Peptides for UBA2 Gene

Q9UBT2:
  • QDDVLIVDSDEE
  • PIHCIVWAK
  • GLIVLEGLKILSG
  • IESGTAGYLGQV
  • NLNRQFLF
  • LNVHKVTV
  • PGCTIRNTPSE
  • SKAQVAKESVL
  • NGSDDGAQPSTS
  • KEKFAMVAPDVQIEDGKGTILISSE
  • GCELLKNL
  • KSMAGNIIPAIATTNAVI
  • NALDNRAARN

Post-translational modifications for UBA2 Gene

  • Sumoylated with SUMO1 and SUMO2/3 and by UBC9. Sumoylation at Lys-236 inhibits enzymatic activity. Sumoylation at the C-terminal lysine cluster plays an essential role in nuclear trafficking.
  • Ubiquitination at Lys65, Lys77, Lys245, Lys253, Lys257, Lys271, Lys316, Lys324, Lys336, Lys420, and Lys472
  • Modification sites at PhosphoSitePlus

Domains & Families for UBA2 Gene

Gene Families for UBA2 Gene

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

Protein Domains for UBA2 Gene

Suggested Antigen Peptide Sequences for UBA2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ42740 fis, clone BRAWH2016655, highly similar to Ubiquitin-like 1-activating enzyme E1B (B3KWB9_HUMAN)
  • Ubiquitin-like 1-activating enzyme E1B (SAE2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UBT2

UniProtKB/Swiss-Prot:

SAE2_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 UBA2: view

Function for UBA2 Gene

Molecular function for UBA2 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.
GENATLAS Biochemistry:
sentrin (UBL1) avtivating protein component with AOS1(SAE1) and UBL1 required for activation of UBL1

Enzyme Numbers (IUBMB) for UBA2 Gene

Phenotypes From GWAS Catalog for UBA2 Gene

Gene Ontology (GO) - Molecular Function for UBA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000287 magnesium ion binding IMP 15660128
GO:0005515 protein binding IPI 10187858
GO:0005524 ATP binding IMP 15660128
GO:0008134 transcription factor binding IEA --
genes like me logo Genes that share ontologies with UBA2: view
genes like me logo Genes that share phenotypes with UBA2: view

Animal Models for UBA2 Gene

MGI Knock Outs for UBA2:
  • Uba2 Uba2<tm1a(KOMP)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for UBA2

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBA2

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for UBA2 Gene

Localization for UBA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UBA2 Gene

Cytoplasm. Nucleus. Note=Shuttles between the cytoplasm and the nucleus, sumoylation is required either for nuclear translocation or nuclear retention.

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 UBA2 gene
Compartment Confidence
nucleus 5
plasma membrane 2
cytoskeleton 2
cytosol 2
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for UBA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA,TAS --
GO:0005737 cytoplasm IBA 21873635
GO:0031510 SUMO activating enzyme complex IBA,IDA 10187858
genes like me logo Genes that share ontologies with UBA2: view

Pathways & Interactions for UBA2 Gene

genes like me logo Genes that share pathways with UBA2: view

Pathways by source for UBA2 Gene

2 GeneGo (Thomson Reuters) pathways for UBA2 Gene
  • DNA damage Role of SUMO in p53 regulation
  • Proteolysis Putative SUMO-1 pathway
1 Qiagen pathway for UBA2 Gene
  • SUMO Pathway

UniProtKB/Swiss-Prot Q9UBT2-SAE2_HUMAN

  • Pathway: Protein modification; protein sumoylation.

Gene Ontology (GO) - Biological Process for UBA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016925 protein sumoylation IEA,TAS --
GO:0032446 protein modification by small protein conjugation IBA 21873635
GO:0033235 positive regulation of protein sumoylation IDA 10187858
genes like me logo Genes that share ontologies with UBA2: view

No data available for SIGNOR curated interactions for UBA2 Gene

Drugs & Compounds for UBA2 Gene

(3) Drugs for UBA2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(1) Additional Compounds for UBA2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with UBA2: view

Transcripts for UBA2 Gene

mRNA/cDNA for UBA2 Gene

1 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBA2

Alternative Splicing Database (ASD) splice patterns (SP) for UBA2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16
SP1:
SP2: -
SP3:
SP4:

Relevant External Links for UBA2 Gene

GeneLoc Exon Structure for
UBA2

Expression for UBA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UBA2 Gene

Protein differential expression in normal tissues from HIPED for UBA2 Gene

This gene is overexpressed in Lymph node (16.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UBA2 Gene



Protein tissue co-expression partners for UBA2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UBA2

SOURCE GeneReport for Unigene cluster for UBA2 Gene:

Hs.631580

Evidence on tissue expression from TISSUES for UBA2 Gene

  • Nervous system(4.9)
  • Skin(4.6)
  • Liver(4.4)
  • Lung(3.2)
  • Kidney(2.8)
  • Intestine(2.7)
  • Blood(2.7)
  • Eye(2.4)
  • Muscle(2.3)
  • Heart(2.2)
  • Lymph node(2.1)
  • Stomach(2)
genes like me logo Genes that share expression patterns with UBA2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for UBA2 Gene

Orthologs for UBA2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UBA2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia UBA2 30 31
  • 99.79 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia UBA2 30 31
  • 94.22 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia UBA2 30 31
  • 93.65 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia UBA2 31
  • 90 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Uba2 30 17 31
  • 87.72 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Uba2 30
  • 87.48 (n)
Oppossum
(Monodelphis domestica)
Mammalia UBA2 31
  • 85 (a)
OneToOne
Chicken
(Gallus gallus)
Aves UBA2 30 31
  • 83.37 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia UBA2 31
  • 77 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia uba2 30
  • 74.99 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15151 30
Zebrafish
(Danio rerio)
Actinopterygii uba2 30 31
  • 70.54 (n)
OneToOne
wufi17g06 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3706 30
Fruit Fly
(Drosophila melanogaster)
Insecta Uba2 30 31 32
  • 56.39 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008637 30
  • 55.32 (n)
Worm
(Caenorhabditis elegans)
Secernentea uba-2 31 32
  • 46 (a)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E03103g 30
  • 49.17 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AFR138W 30
  • 48.33 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBA2 30 31 33
  • 47.53 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons SAE2 30
  • 53.14 (n)
Rice
(Oryza sativa)
Liliopsida Os07g0586500 30
  • 56.87 (n)
Os.18065 30
Wheat
(Triticum aestivum)
Liliopsida Ta.7030 30
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes fub2 30
  • 52.96 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU03526 30
  • 51.06 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.1 30
Species where no ortholog for UBA2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • 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 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)

Evolution for UBA2 Gene

ENSEMBL:
Gene Tree for UBA2 (if available)
TreeFam:
Gene Tree for UBA2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UBA2: view image

Paralogs for UBA2 Gene

Paralogs for UBA2 Gene

(1) SIMAP similar genes for UBA2 Gene using alignment to 7 proteins:

  • SAE2_HUMAN
  • B3KWB9_HUMAN
  • K7EPL2_HUMAN
  • K7ES38_HUMAN
  • K7ESK7_HUMAN
  • U3KQ55_HUMAN
  • U3KQ93_HUMAN

Pseudogenes.org Pseudogenes for UBA2 Gene

genes like me logo Genes that share paralogs with UBA2: view

Variants for UBA2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UBA2 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
654989 Uncertain Significance: not provided 34,434,873(+) C/T NONSENSE
rs1555725969 Uncertain Significance: not provided 34,428,476(+) T/TGGCCGGG FRAMESHIFT_VARIANT
rs1555729503 Uncertain Significance: Inborn genetic diseases 34,450,307(+) CTA/C FRAMESHIFT_VARIANT
rs1555731122 Likely Pathogenic: not provided 34,458,898(+) G/GT FRAMESHIFT_VARIANT
rs1043062 - p.Leu307Arg

Additional dbSNP identifiers (rs#s) for UBA2 Gene

Structural Variations from Database of Genomic Variants (DGV) for UBA2 Gene

Variant ID Type Subtype PubMed ID
esv2718483 CNV deletion 23290073
nsv1059395 CNV gain 25217958
nsv2469 CNV insertion 18451855
nsv517392 CNV gain+loss 19592680
nsv961211 CNV duplication 23825009

Variation tolerance for UBA2 Gene

Residual Variation Intolerance Score: 19% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.67; 45.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UBA2 Gene

Human Gene Mutation Database (HGMD)
UBA2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UBA2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBA2 Gene

Disorders for UBA2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for UBA2 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search UBA2 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with UBA2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UBA2 Gene

Publications for UBA2 Gene

  1. 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 23
  2. 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
  3. 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) 3 4 23
  4. Small ubiquitin-like modifier (SUMO) modification of E1 Cys domain inhibits E1 Cys domain enzymatic activity. (PMID: 22403398) Truong K … Chen Y (The Journal of biological chemistry 2012) 3 4
  5. Sumoylation of SAE2 C terminus regulates SAE nuclear localization. (PMID: 23095757) Truong K … Chen Y (The Journal of biological chemistry 2012) 3 4

Products for UBA2 Gene

Sources for UBA2 Gene