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    Uba1 ubiquitin-like modifier activating enzyme 1 [ Mus musculus (house mouse) ]

    Gene ID: 22201, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Uba1provided by MGI
    Official Full Name
    ubiquitin-like modifier activating enzyme 1provided by MGI
    Primary source
    MGI:MGI:98890
    See related
    Ensembl:ENSMUSG00000001924 AllianceGenome:MGI:98890
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Sbx; A1S9; Ube-1; Ube1x
    Summary
    This gene encodes a member of the ubiquitin-activating E1 family. The encoded protein initiates the ubiquitin activation and transfer cascade, catalyzing the first step in ubiquitin conjugation to mark cellular proteins for proteasome degradation. Ubiquitin activating enzymes use ATP to form a thioester between a conserved catalytic cysteine of the enzyme and the C-terminal carboxylate of ubiquitin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
    Expression
    Ubiquitous expression in whole brain E14.5 (RPKM 120.8), CNS E14 (RPKM 109.7) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    X A1.3; X 16.15 cM
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (20524660..20549420)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (20658302..20683179)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E5720 Neighboring gene predicted gene, 23628 Neighboring gene NADH:ubiquinone oxidoreductase subunit B11 Neighboring gene RNA binding motif protein 10 Neighboring gene STARR-positive B cell enhancer mm9_chrX:20264845-20265145 Neighboring gene cyclin dependent kinase 16 Neighboring gene ubiquitin specific peptidase 11 Neighboring gene predicted gene, 39499

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Ubiquitin-activating enzyme E1 inhibitor PYR41 attenuates angiotensin II-induced activation of dendritic cells via the IκBa/NF-κB and MKP1/ERK/STAT1 pathways. Chen C, et al. Immunology, 2014 Jun. PMID 24456201, Free PMC Article
    2. The functional role of UBA1 cysteine-278 in ubiquitination. Yang U, et al. Biochem Biophys Res Commun, 2012 Oct 26. PMID 23022194
    3. Crystal structure of a fragment of mouse ubiquitin-activating enzyme. Szczepanowski RH, et al. J Biol Chem, 2005 Jun 10. PMID 15774460
    4. Distinct footprints of TCR engagement with highly homologous ligands. Santori FR, et al. J Immunol, 2004 Jun 15. PMID 15187125
    5. Immunofluorescent localization of the ubiquitin-activating enzyme, E1, to the nucleus and cytoskeleton. Trausch JS, et al. Am J Physiol, 1993 Jan. PMID 8430776

    See all (81) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Inhibition of the Ubiquitin-Activating Enzyme UBA1 Suppresses Diet-Induced Atherosclerosis in Apolipoprotein E-Knockout Mice.
      Title: Inhibition of the Ubiquitin-Activating Enzyme UBA1 Suppresses Diet-Induced Atherosclerosis in Apolipoprotein E-Knockout Mice.
    2. Inhibition of ubiquitin-activating enzyme E1 (Ube1) increases the levels of high- molecular weight mouse Htt in relatively unaffected tissues, declining in the nuclear fraction with age.
      Title: Ubiquitin-activating enzyme activity contributes to differential accumulation of mutant huntingtin in brain and peripheral tissues.
    3. Dysregulation of UBA1 and subsequent ubiquitination pathways led to beta-catenin accumulation in a model of spinal muscular atrophy.
      Title: Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy.
    4. These data suggest that Cys-278 can affect Ub charging through a change in the structural conformation of UBA1, not through direct interaction at the UBA1-Ub interface.
      Title: The functional role of UBA1 cysteine-278 in ubiquitination.
    5. E1 ligase of the proteasome is inhibitd by ziram and has a role in preventing dopaminergic cell damage
      Title: Ziram causes dopaminergic cell damage by inhibiting E1 ligase of the proteasome.
    6. biochemical and crystallographic characterization of the two half-domains and the crystal structure of the larger, second catalytic cysteine half-domain of mouse ubiquitin-activating enzyme
      Title: Crystal structure of a fragment of mouse ubiquitin-activating enzyme.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ligase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin activating enzyme activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin activating enzyme activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ubiquitin activating enzyme activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ubiquitin-like modifier activating enzyme activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA damage response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in DNA damage response ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein modification process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    colocalizes_with desmosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    colocalizes_with endosome membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of heterochromatin ISO
    Inferred from Sequence Orthology
    more info
    		  
    colocalizes_with lysosomal membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    colocalizes_with rough endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    ubiquitin-like modifier-activating enzyme 1
    Names
    ubiquitin-activating enzyme E1, Chr X
    NP_001129557.1
    NP_001263245.1
    NP_001263246.1
    NP_033483.3
    XP_030107162.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001136085.3 → NP_001129557.1  ubiquitin-like modifier-activating enzyme 1

      See identical proteins and their annotated locations for NP_001129557.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 4. All four variants encode the same protein.
      Source sequence(s)
      AL807240
      Consensus CDS
      CCDS30044.1
      UniProtKB/Swiss-Prot
      A6H6S6, P31253, Q02053, Q542H8
      UniProtKB/TrEMBL
      A0A1S6GWH5, B9EHN0
      Related
      ENSMUSP00000001989.9, ENSMUST00000001989.9
      Conserved Domains (1) summary
      TIGR01408
      Location:49 → 1055
      Ube1; ubiquitin-activating enzyme E1

    2. NM_001276316.2 → NP_001263245.1  ubiquitin-like modifier-activating enzyme 1

      See identical proteins and their annotated locations for NP_001263245.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 4. All four variants encode the same protein.
      Source sequence(s)
      AL807240
      Consensus CDS
      CCDS30044.1
      UniProtKB/Swiss-Prot
      A6H6S6, P31253, Q02053, Q542H8
      UniProtKB/TrEMBL
      A0A1S6GWH5, B9EHN0
      Related
      ENSMUSP00000086626.5, ENSMUST00000089217.11
      Conserved Domains (1) summary
      TIGR01408
      Location:49 → 1055
      Ube1; ubiquitin-activating enzyme E1

    3. NM_001276317.2 → NP_001263246.1  ubiquitin-like modifier-activating enzyme 1

      See identical proteins and their annotated locations for NP_001263246.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents the longest transcript. All four variants encode the same protein.
      Source sequence(s)
      AL807240
      Consensus CDS
      CCDS30044.1
      UniProtKB/Swiss-Prot
      A6H6S6, P31253, Q02053, Q542H8
      UniProtKB/TrEMBL
      A0A1S6GWH5, B9EHN0
      Conserved Domains (1) summary
      TIGR01408
      Location:49 → 1055
      Ube1; ubiquitin-activating enzyme E1

    4. NM_009457.5 → NP_033483.3  ubiquitin-like modifier-activating enzyme 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 4. All four variants encode the same protein.
      Source sequence(s)
      AL807240
      UniProtKB/Swiss-Prot
      A6H6S6, P31253, Q02053, Q542H8
      UniProtKB/TrEMBL
      B9EHN0

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      20524660..20549420
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030251302.1 → XP_030107162.1  ubiquitin-like modifier-activating enzyme 1 isoform X1

      UniProtKB/Swiss-Prot
      A6H6S6, P31253, Q02053, Q542H8
      UniProtKB/TrEMBL
      A0A1S6GWH5, B9EHN0
      Conserved Domains (1) summary
      TIGR01408
      Location:49 → 1055
      Ube1; ubiquitin-activating enzyme E1
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q02053.1 GenPept UniProtKB/Swiss-Prot:Q02053

    Gene LinkOut

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