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Aliases for UBA2 Gene

Aliases for UBA2 Gene

  • Ubiquitin-Like Modifier Activating Enzyme 2 2 3
  • SAE2 3 4 6
  • 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
  • Ubiquitin-Activating Enzyme E1 Homolog (Yeast) 2
  • UBA2, Ubiquitin-Activating Enzyme E1 Homolog 3
  • SUMO-1 Activating Enzyme Subunit 2 3
  • SUMO-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 Symbols for UBA2 Gene

  • SAE2

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 adult dermatomyositis. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. GO annotations related to this gene include protein heterodimerization activity and ligase activity.

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

Genomic Location for UBA2 Gene

Start:
34,428,352 bp from pter
End:
34,471,251 bp from pter
Size:
42,900 bases
Orientation:
Plus strand

Genomic View for UBA2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for UBA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBA2 Gene

Regulatory Elements 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.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys65, Lys77, Lys245, Lys253, Lys257, Lys271, Lys316, Lys324, Lys336, Lys420, and Lys472

Other Protein References for UBA2 Gene

Domains for UBA2 Gene

Gene Families for UBA2 Gene

HGNC:
  • UBE1 :Ubiquitin-like modifier activating enzymes

Graphical View of Domain Structure for InterPro Entry

Q9UBT2

UniProtKB/Swiss-Prot:

SAE2_HUMAN
Family:
  • Belongs to the ubiquitin-activating E1 family.:
    • Q9UBT2
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:0003824 catalytic activity --
GO:0005515 protein binding IPI 15660128
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

No data available for Animal Models , Transcription Factor Targeting 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
plasma membrane 2
cytosol 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for UBA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol IBA --
GO:0031510 SUMO activating enzyme complex IDA 15660128
genes like me logo Genes that share ontologies with UBA2: view

Pathways 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
1 Qiagen pathway for UBA2 Gene
1 Cell Signaling Technology pathway 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:0006464 cellular protein modification process --
GO:0008152 metabolic process --
GO:0016925 protein sumoylation TAS --
GO:0019950 SMT3-dependent protein catabolic process --
GO:0043085 positive regulation of catalytic activity TAS 10187858
genes like me logo Genes that share ontologies with UBA2: view

Compounds for UBA2 Gene

(4) HMDB Compounds for UBA2 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine monophosphate
  • 5'-AMP
61-19-8
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
Phosphoric acid
  • acide phosphorique (FRENCH)
7664-38-2
Pyrophosphate
  • (4-)Diphosphoric acid ion
14000-31-8
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:

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with UBA2: view

No data available for 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 35
  • 99.79 (n)
  • 100 (a)
UBA2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia UBA2 35
  • 93.65 (n)
  • 97.97 (a)
UBA2 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UBA2 35
  • 94.22 (n)
  • 97.97 (a)
UBA2 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Uba2 35
  • 87.72 (n)
  • 94.36 (a)
Uba2 16
Uba2 36
  • 95 (a)
OneToOne
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 35
  • 70.54 (n)
  • 77.39 (a)
uba2 36
  • 75 (a)
OneToOne
wufi17g06 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008637 35
  • 55.32 (n)
  • 53.61 (a)
fruit fly
(Drosophila melanogaster)
Insecta Uba2 35
  • 56.39 (n)
  • 53.66 (a)
Uba2 36
  • 45 (a)
OneToOne
Uba2 37
  • 49 (a)
worm
(Caenorhabditis elegans)
Secernentea uba-2 36
  • 46 (a)
OneToOne
uba-2 37
  • 47 (a)
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

Selected 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 MAF
rs1030215 -- 34,468,032(-) CCCAA(A/G)TCATA intron-variant
rs1030216 -- 34,468,026(-) TCATA(C/T)TGGTG intron-variant
rs1043062 - 34,452,029(+) AGGCC(G/T)GAAAG missense, reference
rs1043070 -- 34,469,503(+) TACCC(G/T)TAGGT utr-variant-3-prime
rs1477338 -- 34,453,544(-) CCTGT(C/T)TCAAT 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

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

(1) MalaCards Diseases for UBA2 Gene

Search for UBA2 Gene in MalaCards »

(1) University of Copenhagen DISEASES for UBA2 Gene

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

No data available for UniProtKB/Swiss-Prot 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
  2. 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 4 23
  3. 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 4
  4. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 3 4
  5. Polymeric chains of SUMO-2 and SUMO-3 are conjugated to protein substrates by SAE1/SAE2 and Ubc9. (PMID: 11451954) Tatham M.H. … Hay R.T. (J. Biol. Chem. 2001) 3 4

Products for UBA2 Gene

Sources for UBA2 Gene

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