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Aliases for UBA1 Gene

Aliases for UBA1 Gene

  • Ubiquitin-Like Modifier Activating Enzyme 1 2 3
  • UBE1 3 4 6
  • Ubiquitin-Activating Enzyme E1 2 4
  • A1S9T 3 4
  • AMCX1 3 6
  • SMAX2 3 6
  • A1ST 3 6
  • GXP1 3 6
  • Ubiquitin-Activating Enzyme E1 (A1S9T And BN75 Temperature Sensitivity Complementing) 2
  • A1S9T And BN75 Temperature Sensitivity Complementing 3
  • POC20 Centriolar Protein Homolog (Chlamydomonas) 2
  • Ubiquitin-Activating Enzyme E1 Homolog (Yeast) 2
  • UBA1, Ubiquitin-Activating Enzyme E1 Homolog A 3
  • Ubiquitin-Like Modifier-Activating Enzyme 1 3
  • POC20 Centriolar Protein Homolog 3
  • Protein A1S9 4
  • CFAP124 3
  • POC20 3
  • UBA1A 3
  • UBE1X 3
  • UBA1 2
  • A1S9 3

External Ids for UBA1 Gene

Previous Symbols for UBA1 Gene

  • A1S9T
  • GXP1
  • UBE1

Summaries for UBA1 Gene

Entrez Gene Summary for UBA1 Gene

  • The protein encoded by this gene catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation. This gene complements an X-linked mouse temperature-sensitive defect in DNA synthesis, and thus may function in DNA repair. It is part of a gene cluster on chromosome Xp11.23. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for UBA1 Gene

UBA1 (Ubiquitin-Like Modifier Activating Enzyme 1) is a Protein Coding gene. Diseases associated with UBA1 include spinal muscular atrophy, x-linked 2, infantile and wallerian degeneration. Among its related pathways are TGF-Beta Pathway and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include ligase activity and small protein activating enzyme activity. An important paralog of this gene is UBA7.

UniProtKB/Swiss-Prot for UBA1 Gene

  • Catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation through the ubiquitin-proteasome system. Activates ubiquitin by first adenylating its C-terminal glycine residue with ATP, and thereafter linking this residue to the side chain of a cysteine residue in E1, yielding a ubiquitin-E1 thioester and free AMP. Essential for the formation of radiation-induced foci, timely DNA repair and for response to replication stress. Promotes the recruitment of TP53BP1 and BRCA1 at DNA damage sites.

Gene Wiki entry for UBA1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UBA1 Gene

Genomics for UBA1 Gene

Genomic Location for UBA1 Gene

Start:
47,190,800 bp from pter
End:
47,215,128 bp from pter
Size:
24,329 bases
Orientation:
Plus strand

Genomic View for UBA1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for UBA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBA1 Gene

Regulatory Elements for UBA1 Gene

Transcription factor binding sites by QIAGEN in the UBA1 gene promoter:

Proteins for UBA1 Gene

  • Protein details for UBA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P22314-UBA1_HUMAN
    Recommended name:
    Ubiquitin-like modifier-activating enzyme 1
    Protein Accession:
    P22314
    Secondary Accessions:
    • Q5JRR8
    • Q96E13

    Protein attributes for UBA1 Gene

    Size:
    1058 amino acids
    Molecular mass:
    117849 Da
    Quaternary structure:
    • Monomer (By similarity). Interacts with GAN (via BTB domain).
    Miscellaneous:
    • There are two active sites within the E1 molecule, allowing it to accommodate two ubiquitin moieties at a time, with a new ubiquitin forming an adenylate intermediate as the previous one is transferred to the thiol site

    Three dimensional structures from OCA and Proteopedia for UBA1 Gene

    Alternative splice isoforms for UBA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UBA1 Gene

Proteomics data for UBA1 Gene at MOPED

Post-translational modifications for UBA1 Gene

  • ISGylated.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys68, Lys89, Lys185, Lys304, Lys322, Lys385, Lys443, Lys465, Lys470, Lys526, Lys528, Lys593, Lys604, Lys627, Lys635, Lys657, Lys671, Lys746, Lys838, Lys843, Lys889, Lys923, and Lys980

Other Protein References for UBA1 Gene

No data available for DME Specific Peptides for UBA1 Gene

Domains for UBA1 Gene

Gene Families for UBA1 Gene

HGNC:
  • UBE1 :Ubiquitin-like modifier activating enzymes

UniProtKB/Swiss-Prot:

UBA1_HUMAN
Domain:
  • The first 11 amino acids are essential for phosphorylation and exclusive nuclear localization:
    • P22314
Family:
  • Belongs to the ubiquitin-activating E1 family.:
    • P22314
genes like me logo Genes that share domains with UBA1: view

Function for UBA1 Gene

Molecular function for UBA1 Gene

UniProtKB/Swiss-Prot Function: Catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation through the ubiquitin-proteasome system. Activates ubiquitin by first adenylating its C-terminal glycine residue with ATP, and thereafter linking this residue to the side chain of a cysteine residue in E1, yielding a ubiquitin-E1 thioester and free AMP. Essential for the formation of radiation-induced foci, timely DNA repair and for response to replication stress. Promotes the recruitment of TP53BP1 and BRCA1 at DNA damage sites.

Gene Ontology (GO) - Molecular Function for UBA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004839 ubiquitin activating enzyme activity IDA 12629039
GO:0004842 ubiquitin-protein transferase activity IBA --
GO:0005515 protein binding IPI 16227972
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with UBA1: view

Phenotypes for UBA1 Gene

GenomeRNAi human phenotypes for UBA1:
genes like me logo Genes that share phenotypes with UBA1: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for UBA1 Gene

Localization for UBA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UBA1 Gene

Cytoplasm. Mitochondrion. Nucleus.
Isoform 1: Nucleus.
Isoform 2: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for UBA1 Gene COMPARTMENTS Subcellular localization image for UBA1 gene
Compartment Confidence
cytosol 3
nucleus 3
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for UBA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000792 colocalizes_with heterochromatin IDA 1376922
GO:0005634 nucleus IDA 1376922
GO:0005737 cytoplasm IDA 1376922
GO:0005739 mitochondrion IDA 1376922
GO:0005765 colocalizes_with lysosomal membrane IDA 1376922
genes like me logo Genes that share ontologies with UBA1: view

Pathways for UBA1 Gene

genes like me logo Genes that share pathways with UBA1: view

UniProtKB/Swiss-Prot P22314-UBA1_HUMAN

  • Pathway: Protein modification; protein ubiquitination

Gene Ontology (GO) - Biological Process for UBA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006464 cellular protein modification process --
GO:0006974 cellular response to DNA damage stimulus IDA 22456334
GO:0008152 metabolic process --
GO:0008219 cell death --
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with UBA1: view

Compounds for UBA1 Gene

(4) HMDB Compounds for UBA1 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

(1) Drugbank Compounds for UBA1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Hexatantalum Dodecabromide
target
genes like me logo Genes that share compounds with UBA1: view

Transcripts for UBA1 Gene

Unigene Clusters for UBA1 Gene

Ubiquitin-like modifier activating enzyme 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for UBA1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b · 10c · 10d ^ 11a · 11b ^
SP1: - - - - - -
SP2: - - - - - - -
SP3: -
SP4:
SP5: - - - - - -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: - - - - - - - - - - - - - - -
SP13: - - - - - - - - - -
SP14: - - - - - -
SP15:
SP16:
SP17:
SP18: - - - - - - - - - - - - - -
SP19: - - - -
SP20:
SP21: - - - - - - - - - -
SP22: - - - -
SP23:
SP24: - - - - - - - - - - - - -
SP25: - - - - - - - - - - - - - - -
SP26: - -
SP27:
SP28:
SP29:
SP30:

ExUns: 12 ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c ^ 16 ^ 17 ^ 18a · 18b · 18c ^ 19a · 19b ^ 20a · 20b ^ 21a · 21b ^ 22a · 22b · 22c ^ 23a · 23b ^ 24a · 24b ^ 25a ·
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15: - - - - - - - - - - -
SP16:
SP17:
SP18:
SP19:
SP20: - -
SP21: - - - - - - - - - - - - - - - - - - - - - - - - - -
SP22:
SP23:
SP24:
SP25:
SP26:
SP27:
SP28:
SP29:
SP30:

ExUns: 25b · 25c · 25d ^ 26a · 26b · 26c ^ 27a · 27b · 27c ^ 28a · 28b · 28c · 28d ^ 29 ^ 30a · 30b · 30c ^ 31a · 31b ^ 32 ^ 33a · 33b
SP1:
SP2:
SP3:
SP4: - -
SP5:
SP6:
SP7:
SP8: - -
SP9: - - -
SP10: - - -
SP11: - - -
SP12:
SP13:
SP14:
SP15: - -
SP16:
SP17:
SP18:
SP19:
SP20: -
SP21: - - -
SP22:
SP23:
SP24:
SP25:
SP26:
SP27:
SP28:
SP29: -
SP30:

Relevant External Links for UBA1 Gene

GeneLoc Exon Structure for
UBA1
ECgene alternative splicing isoforms for
UBA1

Expression for UBA1 Gene

mRNA expression in normal human tissues for UBA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for UBA1 Gene

SOURCE GeneReport for Unigene cluster for UBA1 Gene Hs.533273

genes like me logo Genes that share expressions with UBA1: view

Orthologs for UBA1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UBA1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia UBA1 36
  • 91.43 (n)
  • 96.6 (a)
UBA1 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UBA1 36
  • 91.08 (n)
  • 94.9 (a)
UBA1 37
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Uba1 36
  • 89.32 (n)
  • 95.56 (a)
Uba1 16
Uba1 37
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UBA1 37
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 90 (a)
OneToMany
-- 37
  • 43 (a)
OneToMany
-- 37
  • 80 (a)
OneToMany
-- 37
  • 80 (a)
OneToMany
-- 37
  • 65 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Uba1 36
  • 89.35 (n)
  • 96.41 (a)
lizard
(Anolis carolinensis)
Reptilia UBA1 37
  • 80 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii Dr.28845 36
uba1 36
  • 72.94 (n)
  • 79 (a)
uba1 37
  • 79 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011872 36
  • 62.52 (n)
  • 62.13 (a)
fruit fly
(Drosophila melanogaster)
Insecta Uba1 36
  • 61.77 (n)
  • 61.64 (a)
Uba1 37
  • 53 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea uba-1 36
  • 54.15 (n)
  • 51.35 (a)
uba-1 37
  • 46 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR433C 36
  • 57.75 (n)
  • 55.63 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBA1 36
  • 54.52 (n)
  • 53.99 (a)
UBA1 37
  • 52 (a)
OneToMany
UBA1 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B14278g 36
  • 55.98 (n)
  • 54.44 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3093 36
soybean
(Glycine max)
eudicotyledons Gma.1973 36
barley
(Hordeum vulgare)
Liliopsida Hv.2675 36
rice
(Oryza sativa)
Liliopsida Os.33799 36
Os07g0692900 36
  • 53.7 (n)
  • 46.43 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.684 36
bread mold
(Neurospora crassa)
Ascomycetes NCU04370 36
  • 59.59 (n)
  • 56.66 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ptr3 36
  • 54.74 (n)
  • 55.11 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10411 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 61 (a)
OneToMany
Species with no ortholog for UBA1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)

Evolution for UBA1 Gene

ENSEMBL:
Gene Tree for UBA1 (if available)
TreeFam:
Gene Tree for UBA1 (if available)

Paralogs for UBA1 Gene

Paralogs for UBA1 Gene

Selected SIMAP similar genes for UBA1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with UBA1: view

Variants for UBA1 Gene

Sequence variations from dbSNP and Humsavar for UBA1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs14952 -- 47,215,013(+) TGGCA(G/T)TGGCC utr-variant-3-prime
rs1127319 -- 47,214,974(+) CTCCA(A/C)ACCCC utr-variant-3-prime
rs1804872 -- 47,214,966(+) CCACC(A/C)CTCTC utr-variant-3-prime
rs2228658 -- 47,211,125(+) GTGGC(C/T)ACATT reference, synonymous-codon
rs2230147 -- 47,210,862(+) GCGCC(A/G)TTCTG synonymous-codon, reference

Relevant External Links for UBA1 Gene

HapMap Linkage Disequilibrium report
UBA1
Human Gene Mutation Database (HGMD)
UBA1
Locus Specific Mutation Databases (LSDB)
UBA1

No data available for Structural Variations from Database of Genomic Variants (DGV) for UBA1 Gene

Disorders for UBA1 Gene

(1) OMIM Diseases for UBA1 Gene (314370)

UniProtKB/Swiss-Prot

UBA1_HUMAN
  • Spinal muscular atrophy X-linked 2 (SMAX2) [MIM:301830]: A lethal infantile form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Clinical features include hypotonia, areflexia, and multiple congenital contractures. {ECO:0000269 PubMed:18179898, ECO:0000269 PubMed:23518311}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for UBA1

GeneTests
UBA1
GeneReviews
UBA1
Human Genome Epidemiology (HuGE) Navigator
UBA1
genes like me logo Genes that share disorders with UBA1: view

Publications for UBA1 Gene

  1. The human ubiquitin-activating enzyme E1 gene (UBE1) mapped to band Xp11.3----p11.23 by fluorescence in situ hybridization. (PMID: 1544321) Takahashi E. … Hori T. (Cytogenet. Cell Genet. 1992) 3 23
  2. The origin and loss of the ubiquitin activating enzyme gene on the mammalian Y chromosome. (PMID: 9467000) Mitchell M.J. … Graves J.A. (Hum. Mol. Genet. 1998) 3 23
  3. Immunoelectron microscopic localization of the ubiquitin-activating enzyme E1 in HepG2 cells. (PMID: 1376922) Schwartz A.L. … Geuze H. (Proc. Natl. Acad. Sci. U.S.A. 1992) 3 4
  4. Complementation by a cloned human ubiquitin-activating enzyme E1 of the S-phase-arrested mouse FM3A cell mutant with thermolabile E1. (PMID: 1606621) Ayusawa D. … Seno T. (Cell Struct. Funct. 1992) 3 4
  5. Human ubiquitin-activating enzyme (E1): compensation for heat-labile mouse E1 and its gene localization on the X chromosome. (PMID: 1845793) Kudo M. … Ui M. (Exp. Cell Res. 1991) 2 3

Products for UBA1 Gene

  • Addgene plasmids for UBA1

Sources for UBA1 Gene

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