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Aliases for UBA2 Gene

Aliases for UBA2 Gene

  • Ubiquitin Like Modifier Activating Enzyme 2 2 3
  • Ubiquitin-Like Modifier Activating Enzyme 2 2 3 5
  • Ubiquitin-Like Modifier-Activating Enzyme 2 3 4
  • Anthracycline-Associated Resistance ARX 3 4
  • Ubiquitin-Like 1-Activating Enzyme E1B 3 4
  • SUMO1 Activating Enzyme Subunit 2 2 3
  • SAE2 3 4
  • Ubiquitin-Activating Enzyme E1 Homolog (Yeast) 2
  • UBA2, Ubiquitin-Activating Enzyme E1 Homolog 3
  • SUMO-1 Activating Enzyme Subunit 2 3
  • HRIHFB2115 3
  • EC 6.3.2.- 4
  • EC 6.3.2 63
  • UBLE1B 4
  • UBA2 2
  • 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 chromosome 19q13.11 deletion syndrome. Among its related pathways are Transport to the Golgi and subsequent modification and SUMOylation. GO annotations related to this gene include protein heterodimerization activity and transcription factor binding.

UniProtKB/Swiss-Prot for UBA2 Gene

  • 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 UBA2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UBA2 Gene

Genomics for UBA2 Gene

Regulatory Elements for UBA2 Gene

Promoters for UBA2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around UBA2 on UCSC Golden Path with GeneCards custom track

Genomic Location for UBA2 Gene

Chromosome:
19
Start:
34,428,176 bp from pter
End:
34,471,251 bp from pter
Size:
43,076 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

Proteomics data for UBA2 Gene at MOPED

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 Lys 65, Lys 77, Lys 245, Lys 253, Lys 257, Lys 316, Lys 324, Lys 336, Lys 420, and Lys 472
  • Modification sites at PhosphoSitePlus

Other Protein References for UBA2 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for UBA2 (SAE2)

Domains & Families for UBA2 Gene

Gene Families for UBA2 Gene

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

GENATLAS Biochemistry:
sentrin (UBL1) avtivating protein component with AOS1(SAE1) and UBL1 required for activation of UBL1
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for UBA2 Gene

Gene Ontology (GO) - Molecular Function for UBA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
GO:0008047 enzyme activator activity TAS 10187858
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 tm1a(KOMP)Wtsi

Animal Model Products

  • Taconic Biosciences Mouse Models for UBA2

CRISPR Products

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
Jensen Localization Image for UBA2 Gene COMPARTMENTS Subcellular localization image for UBA2 gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 2
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for UBA2 Gene

Pathways & Interactions for UBA2 Gene

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

Pathways by source for UBA2 Gene

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 TAS --
GO:0043687 post-translational protein modification TAS --
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
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Diphosphate Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
genes like me logo Genes that share compounds with UBA2: view

Transcripts for UBA2 Gene

Unigene Clusters for UBA2 Gene

Ubiquitin-like modifier activating enzyme 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
UBA2

Expression for UBA2 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for UBA2 Gene



SOURCE GeneReport for Unigene cluster for UBA2 Gene Hs.631580

genes like me logo Genes that share expression patterns with UBA2: view

Protein tissue co-expression partners for UBA2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 36
  • 100 (a)
OneToOne
UBA2 35
  • 99.79 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia UBA2 35
  • 93.65 (n)
  • 97.97 (a)
UBA2 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UBA2 36
  • 98 (a)
OneToOne
UBA2 35
  • 94.22 (n)
  • 97.97 (a)
mouse
(Mus musculus)
Mammalia Uba2 36
  • 95 (a)
OneToOne
Uba2 35
  • 87.72 (n)
  • 94.36 (a)
Uba2 16
oppossum
(Monodelphis domestica)
Mammalia UBA2 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UBA2 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Uba2 35
  • 87.48 (n)
  • 94.68 (a)
chicken
(Gallus gallus)
Aves UBA2 35
  • 83.37 (n)
  • 89.88 (a)
UBA2 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UBA2 36
  • 77 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.15151 35
tropical clawed frog
(Silurana tropicalis)
Amphibia uba2 35
  • 74.99 (n)
  • 80.53 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3706 35
zebrafish
(Danio rerio)
Actinopterygii uba2 36
  • 75 (a)
OneToOne
uba2 35
  • 70.54 (n)
  • 77.39 (a)
wufi17g06 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008637 35
  • 55.32 (n)
  • 53.61 (a)
fruit fly
(Drosophila melanogaster)
Insecta Uba2 37
  • 49 (a)
Uba2 35
  • 56.39 (n)
  • 53.66 (a)
Uba2 36
  • 45 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea uba-2 37
  • 47 (a)
uba-2 36
  • 46 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR138W 35
  • 48.33 (n)
  • 41.22 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBA2 35
  • 47.53 (n)
  • 36.7 (a)
UBA2 36
  • 34 (a)
OneToOne
UBA2 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E03103g 35
  • 49.17 (n)
  • 40.5 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons SAE2 35
  • 53.14 (n)
  • 44.21 (a)
rice
(Oryza sativa)
Liliopsida Os.18065 35
Os07g0586500 35
  • 56.87 (n)
  • 48.03 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.7030 35
bread mold
(Neurospora crassa)
Ascomycetes NCU03526 35
  • 51.06 (n)
  • 46.99 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes fub2 35
  • 52.96 (n)
  • 47.33 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1 35
Species with no ortholog for UBA2:
  • 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 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)

Paralogs for UBA2 Gene

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

Pseudogenes.org Pseudogenes for UBA2 Gene

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

No data available for Paralogs for UBA2 Gene

Variants for UBA2 Gene

Sequence variations from dbSNP and Humsavar for UBA2 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1043062 - 34,452,029(+) AGGCC(G/T)GAAAG nc-transcript-variant, reference, missense
rs2161472 -- 34,451,967(-) AAAAA(A/T)ATATA intron-variant
rs2287830 -- 34,428,394(-) GGCGG(G/T)AGAAC nc-transcript-variant, reference, synonymous-codon, utr-variant-5-prime
rs1974818 -- 34,440,198(-) tacag(A/G)tgccc intron-variant
rs1030215 -- 34,468,032(-) CCCAA(A/G)TCATA intron-variant

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

Variant ID Type Subtype PubMed ID
esv2718483 CNV Deletion 23290073
nsv2469 CNV Insertion 18451855
nsv517392 CNV Gain+Loss 19592680

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)

Relevant External Links for UBA2 Gene

HapMap Linkage Disequilibrium report
UBA2

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

Disorders for UBA2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for UBA2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
chromosome 19q13.11 deletion syndrome
  • 19q13.11 microdeletion syndrome
- elite association - COSMIC cancer census association via MalaCards
Search UBA2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for UBA2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UBA2
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 J.M.P. … Hay R.T. (J. Biol. Chem. 1999) 2 3 4 23 67
  2. In vitro SUMO-1 modification requires two enzymatic steps, E1 and E2. (PMID: 9920803) Okuma T. … Yasuda H. (Biochem. Biophys. Res. Commun. 1999) 2 3
  3. Molecular cloning and characterization of human AOS1 and UBA2, components of the sentrin-activating enzyme complex. (PMID: 10217437) Gong L. … Yeh E.T.H. (FEBS Lett. 1999) 3 23
  4. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for UBA2 Gene

Sources for UBA2 Gene

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