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Aliases for UBA3 Gene

Aliases for UBA3 Gene

  • Ubiquitin Like Modifier Activating Enzyme 3 2 3 5
  • Ubiquitin-Activating Enzyme E1C (Homologous To Yeast UBA3) 2 3
  • Ubiquitin-Activating Enzyme E1C (UBA3 Homolog, Yeast) 2 3
  • NEDD8-Activating Enzyme E1 Catalytic Subunit 2 3
  • NEDD8-Activating Enzyme E1 Subunit 2 2 3
  • Ubiquitin-Activating Enzyme 3 3 4
  • NEDD8-Activating Enzyme E1C 3 4
  • UBE1C 3 4
  • UBA3, Ubiquitin-Activating Enzyme E1 Homolog 3
  • Ubiquitin-Like Modifier Activating Enzyme 3 2
  • Ubiquitin-Like Modifier-Activating Enzyme 3 4
  • Ubiquitin-Activating Enzyme E1C 4
  • Nedd8-Activating Enzyme HUba3 3
  • EC 6.3.2.- 4
  • EC 6.3.2 58
  • HUBA3 3
  • NAE2 3

External Ids for UBA3 Gene

Previous HGNC Symbols for UBA3 Gene

  • UBE1C

Previous GeneCards Identifiers for UBA3 Gene

  • GC03M069187
  • GC03M069103

Summaries for UBA3 Gene

Entrez Gene Summary for UBA3 Gene

  • The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E1 ubiquitin-activating enzyme family. The encoded enzyme associates with AppBp1, an amyloid beta precursor protein binding protein, to form a heterodimer, and then the enzyme complex activates NEDD8, a ubiquitin-like protein, which regulates cell division, signaling and embryogenesis. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for UBA3 Gene

UBA3 (Ubiquitin Like Modifier Activating Enzyme 3) is a Protein Coding gene. Among its related pathways are Class I MHC mediated antigen processing and presentation and Coregulation of Androgen receptor activity. GO annotations related to this gene include protein heterodimerization activity and small protein activating enzyme activity.

UniProtKB/Swiss-Prot for UBA3 Gene

  • Catalytic subunit of the dimeric UBA3-NAE1 E1 enzyme. E1 activates NEDD8 by first adenylating its C-terminal glycine residue with ATP, thereafter linking this residue to the side chain of the catalytic cysteine, yielding a NEDD8-UBA3 thioester and free AMP. E1 finally transfers NEDD8 to the catalytic cysteine of UBE2M. Down-regulates steroid receptor activity. Necessary for cell cycle progression.

Gene Wiki entry for UBA3 Gene

Additional gene information for UBA3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UBA3 Gene

Genomics for UBA3 Gene

Regulatory Elements for UBA3 Gene

Enhancers for UBA3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H069079 2 FANTOM5 Ensembl ENCODE dbSUPER 22.1 -8.1 -8121 18 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 YBX1 ZNF2 YY1 ZNF766 ARL6IP5 UBA3 TMF1 EOGT LMOD3 GC03M069083
GH03H069050 1.3 ENCODE dbSUPER 20.2 +28.4 28418 2 PKNOX1 FOXA2 ATF1 ARID4B SIN3A DMAP1 BRCA1 YY1 ZNF121 SLC30A9 UBA3 ARL6IP5 TMF1 MIR3136
GH03H069008 1.3 Ensembl ENCODE 10.9 +68.8 68828 6 ARID4B SIN3A DMAP1 ZNF766 ZNF143 SP3 MXD4 REST ZNF592 KAT8 TMF1 ENSG00000244513 UBA3 ARL6IP5 EOGT GC03P068964
GH03H069057 0.9 ENCODE dbSUPER 8.1 +21.7 21719 2 ZNF687 MAX ELF1 NBN ETV6 MYC IKZF2 RUNX3 SPI1 ARL6IP5 UBA3 EOGT GC03P069062 TMF1
GH03H069063 0.4 dbSUPER 11 +15.5 15474 3 NFE2L2 ARL6IP5 UBA3 EOGT TMF1 GC03P069062
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UBA3 on UCSC Golden Path with GeneCards custom track

Promoters for UBA3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000154073 508 1401 TBP ZNF76 YY1 ZNF143 EGR2 THAP11 SP5 SMAD5 CBFB GTF2B

Genomic Location for UBA3 Gene

Chromosome:
3
Start:
69,054,730 bp from pter
End:
69,080,408 bp from pter
Size:
25,679 bases
Orientation:
Minus strand

Genomic View for UBA3 Gene

Genes around UBA3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBA3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBA3 Gene

Proteins for UBA3 Gene

  • Protein details for UBA3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TBC4-UBA3_HUMAN
    Recommended name:
    NEDD8-activating enzyme E1 catalytic subunit
    Protein Accession:
    Q8TBC4
    Secondary Accessions:
    • A6NLB5
    • A8K027
    • O76088
    • Q9NTU3

    Protein attributes for UBA3 Gene

    Size:
    463 amino acids
    Molecular mass:
    51852 Da
    Quaternary structure:
    • Heterodimer of UBA3 and NAE1. Interacts with NEDD8, UBE2F and UBE2M. Binds ESR1 and ESR2 with bound steroid ligand (By similarity). Interacts with TBATA (By similarity).
    Miscellaneous:
    • Arg-211 acts as a selectivity gate, preventing misactivation of ubiquitin by this NEDD8-specific E1 complex.
    SequenceCaution:
    • Sequence=AAC27648.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for UBA3 Gene

    Alternative splice isoforms for UBA3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UBA3 Gene

Selected DME Specific Peptides for UBA3 Gene

Q8TBC4:
  • IIPAVASTNA
  • LYPPQVNFP
  • IDGGTEGFKGNARVI
  • STESLQFLLDTCK
  • GPFTHPDFE
  • NLNRQFLF
  • SIEERTRPNLSKTLKELGLVDGQELAVADVTTPQTVLFK
  • TFYRQFHI
  • CATEVFKIATSAY
  • GEEPEKKRRRIEEL
  • YEDGVLDPSSI
  • PLNNYLVFNDVDGLYTYTFEAERKENC
  • NFPMCTIASMPRLPEHC
  • GCELLKNL
  • ASLQMKSPAIT

Post-translational modifications for UBA3 Gene

  • Ubiquitination at Lys86, Lys147, posLast=284284, Lys307, Lys361, posLast=398398, Lys409, and posLast=434434
  • Modification sites at PhosphoSitePlus

Domains & Families for UBA3 Gene

Gene Families for UBA3 Gene

Graphical View of Domain Structure for InterPro Entry

Q8TBC4

UniProtKB/Swiss-Prot:

UBA3_HUMAN :
  • Belongs to the ubiquitin-activating E1 family. UBA3 subfamily.
Family:
  • Belongs to the ubiquitin-activating E1 family. UBA3 subfamily.
genes like me logo Genes that share domains with UBA3: view

Function for UBA3 Gene

Molecular function for UBA3 Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
Binding of TP53BP2 to the regulatory subunit NAE1 decreases activity.
UniProtKB/Swiss-Prot Function:
Catalytic subunit of the dimeric UBA3-NAE1 E1 enzyme. E1 activates NEDD8 by first adenylating its C-terminal glycine residue with ATP, thereafter linking this residue to the side chain of the catalytic cysteine, yielding a NEDD8-UBA3 thioester and free AMP. E1 finally transfers NEDD8 to the catalytic cysteine of UBE2M. Down-regulates steroid receptor activity. Necessary for cell cycle progression.

Enzyme Numbers (IUBMB) for UBA3 Gene

Gene Ontology (GO) - Molecular Function for UBA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10722740
GO:0005524 ATP binding IEA --
GO:0008641 small protein activating enzyme activity IEA --
GO:0016874 ligase activity IEA --
GO:0016881 acid-amino acid ligase activity IEA --
genes like me logo Genes that share ontologies with UBA3: view
genes like me logo Genes that share phenotypes with UBA3: view

Animal Models for UBA3 Gene

MGI Knock Outs for UBA3:

Animal Model Products

  • Taconic Biosciences Mouse Models for UBA3

CRISPR Products

miRNA for UBA3 Gene

miRTarBase miRNAs that target UBA3

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for UBA3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for UBA3 Gene

Localization for UBA3 Gene

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 UBA3 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Cytosol (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UBA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with UBA3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for UBA3 Gene

Pathways & Interactions for UBA3 Gene

genes like me logo Genes that share pathways with UBA3: view

UniProtKB/Swiss-Prot Q8TBC4-UBA3_HUMAN

  • Pathway: Protein modification; protein neddylation.

Gene Ontology (GO) - Biological Process for UBA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle IEA --
GO:0006464 cellular protein modification process TAS 9694792
GO:0006508 proteolysis TAS 9694792
GO:0007049 cell cycle IEA --
GO:0007113 endomitotic cell cycle IEA --
genes like me logo Genes that share ontologies with UBA3: view

No data available for SIGNOR curated interactions for UBA3 Gene

Drugs & Compounds for UBA3 Gene

(1) Drugs for UBA3 Gene - From: DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
MLN-4924 Pharma 0
genes like me logo Genes that share compounds with UBA3: view

Transcripts for UBA3 Gene

Unigene Clusters for UBA3 Gene

Ubiquitin-like modifier activating enzyme 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for UBA3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for UBA3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15 ^ 16 ^ 17 ^ 18
SP1: - -
SP2: -
SP3: - -
SP4: -
SP5: - -
SP6: - - -
SP7: - -
SP8:
SP9: - - - -
SP10: - - - - -
SP11:
SP12:

Relevant External Links for UBA3 Gene

GeneLoc Exon Structure for
UBA3
ECgene alternative splicing isoforms for
UBA3

Expression for UBA3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UBA3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for UBA3 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for UBA3 Gene



Protein tissue co-expression partners for UBA3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of UBA3 Gene:

UBA3

SOURCE GeneReport for Unigene cluster for UBA3 Gene:

Hs.154320

mRNA Expression by UniProt/SwissProt for UBA3 Gene:

Q8TBC4-UBA3_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for UBA3 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with UBA3: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for UBA3 Gene

Orthologs for UBA3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UBA3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UBA3 33 34
  • 99.86 (n)
dog
(Canis familiaris)
Mammalia UBA3 33 34
  • 95.68 (n)
cow
(Bos Taurus)
Mammalia UBA3 33 34
  • 95.61 (n)
oppossum
(Monodelphis domestica)
Mammalia UBA3 34
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UBA3 34
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Uba3 33 16 34
  • 92.35 (n)
rat
(Rattus norvegicus)
Mammalia Uba3 33
  • 92.28 (n)
chicken
(Gallus gallus)
Aves UBA3 33 34
  • 82.29 (n)
lizard
(Anolis carolinensis)
Reptilia UBA3 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia uba3 33
  • 78.17 (n)
Str.4967 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.13960 33
zebrafish
(Danio rerio)
Actinopterygii uba3 33 34
  • 76.12 (n)
Dr.4224 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1172 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005102 33
  • 63.06 (n)
fruit fly
(Drosophila melanogaster)
Insecta Uba3 33 34
  • 59.76 (n)
worm
(Caenorhabditis elegans)
Secernentea rfl-1 33 34
  • 56.57 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBA3 34 36
  • 44 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons ECR1 33
  • 54.06 (n)
rice
(Oryza sativa)
Liliopsida Os01g0271500 33
  • 56.44 (n)
Os.10190 33
barley
(Hordeum vulgare)
Liliopsida Hv.8881 33
wheat
(Triticum aestivum)
Liliopsida Ta.9932 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 67 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU02532 33
  • 53.93 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes uba3 33
  • 53.46 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7842 33
Species where no ortholog for UBA3 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)
  • 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)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 UBA3 Gene

ENSEMBL:
Gene Tree for UBA3 (if available)
TreeFam:
Gene Tree for UBA3 (if available)

Paralogs for UBA3 Gene

(1) SIMAP similar genes for UBA3 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with UBA3: view

No data available for Paralogs for UBA3 Gene

Variants for UBA3 Gene

Sequence variations from dbSNP and Humsavar for UBA3 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1000137675 -- 69,065,542(+) GGCTT(A/C)ACTGA intron-variant
rs1000258666 -- 69,075,809(+) TCACT(A/G)CAACC intron-variant
rs1000421654 -- 69,058,091(+) ACGCC(C/T)GGCTA intron-variant
rs1000489022 -- 69,063,213(+) GTAAT(C/T)CTATG intron-variant
rs1000749576 -- 69,077,589(+) AATTT(C/T)CAACT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for UBA3 Gene

Variant ID Type Subtype PubMed ID
nsv475162 CNV novel sequence insertion 20440878
nsv478374 CNV novel sequence insertion 20440878
nsv520488 CNV loss 19592680

Variation tolerance for UBA3 Gene

Residual Variation Intolerance Score: 8.27% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.66; 14.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UBA3 Gene

Human Gene Mutation Database (HGMD)
UBA3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UBA3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBA3 Gene

Disorders for UBA3 Gene

Relevant External Links for UBA3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UBA3

No disorders were found for UBA3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for UBA3 Gene

Publications for UBA3 Gene

  1. A new NEDD8-ligating system for cullin-4A. (PMID: 9694792) Osaka F … Kato S (Genes & development 1998) 2 3 4 60
  2. E2-RING expansion of the NEDD8 cascade confers specificity to cullin modification. (PMID: 19250909) Huang DT … Schulman BA (Molecular cell 2009) 3 4 60
  3. Structural basis for recruitment of Ubc12 by an E2 binding domain in NEDD8's E1. (PMID: 15694336) Huang DT … Schulman BA (Molecular cell 2005) 3 4 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for UBA3 Gene

Sources for UBA3 Gene

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