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    UBA6 ubiquitin like modifier activating enzyme 6 [ Homo sapiens (human) ]

    Gene ID: 55236, updated on 5-May-2024

    Summary

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    Official Symbol
    UBA6provided by HGNC
    Official Full Name
    ubiquitin like modifier activating enzyme 6provided by HGNC
    Primary source
    HGNC:HGNC:25581
    See related
    Ensembl:ENSG00000033178 MIM:611361; AllianceGenome:HGNC:25581
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    E1-L2; MOP-4; UBE1L2
    Summary
    Modification of proteins with ubiquitin (UBB; MIM 191339) or ubiquitin-like proteins controls many signaling networks and requires a ubiquitin-activating enzyme (E1), a ubiquitin conjugating enzyme (E2), and a ubiquitin protein ligase (E3). UBE1L2 is an E1 enzyme that initiates the activation and conjugation of ubiquitin-like proteins (Jin et al., 2007 [PubMed 17597759]).[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in lymph node (RPKM 7.6), appendix (RPKM 7.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    4q13.2
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (67612652..67701155, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (71055730..71144265, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (68478370..68566873, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene NANOG hESC enhancer GRCh37_chr4:68344255-68344756 Neighboring gene centromere protein C Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:68385691-68386192 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:68386193-68386692 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:68410993-68411543 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21595 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21596 Neighboring gene Sharpr-MPRA regulatory region 12077 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21597 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15462 Neighboring gene signal transducing adaptor family member 1 Neighboring gene small EDRK-rich factor 2-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15463 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15464 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21598 Neighboring gene dynein, axonemal, assembly factor 5 pseudodgene Neighboring gene UBA6 divergent transcript Neighboring gene ST3GAL1 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder. Quintela I, et al. Am J Med Genet A, 2015 Dec. PMID 26284580
    2. Activating the ubiquitin family: UBA6 challenges the field. Groettrup M, et al. Trends Biochem Sci, 2008 May. PMID 18353650
    3. Structures of UBA6 explain its dual specificity for ubiquitin and FAT10. Truongvan N, et al. Nat Commun, 2022 Aug 15. PMID 35970836, Free PMC Article
    4. Down-regulation of UBA6 exacerbates brain injury by inhibiting the activation of Notch signaling pathway to promote cerebral cell apoptosis in rat acute cerebral infarction model. Chen Z, et al. Mol Cell Probes, 2020 Oct. PMID 32497710
    5. Ubiquitination-activating enzymes UBE1 and UBA6 regulate ubiquitination and expression of cardiac sodium channel Nav1.5. Hu Y, et al. Biochem J, 2020 May 15. PMID 32315024

    See all (71) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. UBA6 Inhibition Accelerates Lysosomal TRPML1 Depletion and Exosomal Secretion in Lung Cancer Cells.
      Title: UBA6 Inhibition Accelerates Lysosomal TRPML1 Depletion and Exosomal Secretion in Lung Cancer Cells.
    2. UBA6 and NDFIP1 regulate the degradation of ferroportin.
      Title: UBA6 and NDFIP1 regulate the degradation of ferroportin.
    3. Down-regulation of UBA6 exacerbates brain injury by inhibiting the activation of Notch signaling pathway to promote cerebral cell apoptosis in rat acute cerebral infarction model.
      Title: Down-regulation of UBA6 exacerbates brain injury by inhibiting the activation of Notch signaling pathway to promote cerebral cell apoptosis in rat acute cerebral infarction model.
    4. Ubiquitination-activating enzymes UBE1 and UBA6 regulate ubiquitination and expression of cardiac sodium channel Nav1.5.
      Title: Ubiquitination-activating enzymes UBE1 and UBA6 regulate ubiquitination and expression of cardiac sodium channel Nav1.5.
    5. These findings demonstrate that UBA6 and BIRC6 negatively regulate autophagy by limiting the availability of LC3B.
      Title: Negative regulation of autophagy by UBA6-BIRC6-mediated ubiquitination of LC3.
    6. Polyubiquitination and proteasomal degradation of ezrin and CUGBP1 require Uba6, but not Uba1, and that Uba6 is involved in the control of ezrin localization and epithelial morphogenesis. These data suggest that distinctive substrate pools exist for Uba1 and Uba6 that reflect non-redundant biological roles for Uba6.
      Title: Orthogonal ubiquitin transfer identifies ubiquitination substrates under differential control by the two ubiquitin activating enzymes.
    7. this study revealed a novel function of LMO2 involving in the regulatory hierarchy of UBA6-USE1-FAT10ylation pathway by targeting the E1 enzyme UBA6.
      Title: LMO2 blocks the UBA6-USE1 interaction and downstream FAT10ylation by targeting the ubiquitin fold domain of UBA6.
    8. Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder.
      Title: Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder.
    9. Diminished ubiquitylation phenotype observed in enteropathogenic Escherichia coli infected cells corresponds to a strong reduction in the abundance of both Ube1 and Uba6.
      Title: The Escherichia coli adherence factor plasmid of enteropathogenic Escherichia coli causes a global decrease in ubiquitylated host cell proteins by decreasing ubiquitin E1 enzyme expression through host aspartyl proteases.
    10. Data indicate the potential role of cytokine-induced FAT10 expression in regulating Uba6 pathways.
      Title: Mechanistic studies on activation of ubiquitin and di-ubiquitin-like protein, FAT10, by ubiquitin-like modifier activating enzyme 6, Uba6.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    Clone Names

    • FLJ10808, FLJ23367

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables FAT10 activating enzyme activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables FAT10 activating enzyme activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables nucleotidyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables thiosulfate sulfurtransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin activating enzyme activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in amygdala development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in dendritic spine development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in hippocampus development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in learning IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein ubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    ubiquitin-like modifier-activating enzyme 6
    Names
    UBA6, ubiquitin-activating enzyme E1
    monocyte protein 4
    ubiquitin-activating enzyme 6
    ubiquitin-activating enzyme E1-like 2
    ubiquitin-activating enzyme E1-like protein 2
    NP_060697.4
    XP_016863848.1
    XP_047271849.1
    XP_054206360.1
    XP_054206361.1

    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_018227.6 → NP_060697.4  ubiquitin-like modifier-activating enzyme 6

      See identical proteins and their annotated locations for NP_060697.4

      Status: VALIDATED

      Source sequence(s)
      AC096720, AL832015, AW451445, AY359880, BC126484, BM973988
      Consensus CDS
      CCDS3516.1
      UniProtKB/Swiss-Prot
      A0AVT1, A6N8M7, B2RAV3, Q4W5K0, Q6UV21, Q86T78, Q86TC7, Q8N5T3, Q8N9E4, Q9H3T7, Q9NVC9
      Related
      ENSP00000313454.4, ENST00000322244.10
      Conserved Domains (4) summary
      cd01490
      Location:462 → 1005
      Ube1_repeat2; Ubiquitin activating enzyme (E1), repeat 2. E1, a highly conserved small protein present universally in eukaryotic cells, is part of cascade to attach ubiquitin (Ub) covalently to substrate proteins. This cascade consists of activating (E1), conjugating ...
      cd01491
      Location:43 → 432
      Ube1_repeat1; Ubiquitin activating enzyme (E1), repeat 1. E1, a highly conserved small protein present universally in eukaryotic cells, is part of cascade to attach ubiquitin (Ub) covalently to substrate proteins. This cascade consists of activating (E1), conjugating ...
      TIGR01408
      Location:38 → 1046
      Ube1; ubiquitin-activating enzyme E1
      pfam16191
      Location:299 → 361
      E1_4HB; Ubiquitin-activating enzyme E1 four-helix bundle

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      67612652..67701155 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017008359.3 → XP_016863848.1  ubiquitin-like modifier-activating enzyme 6 isoform X1

    2. XM_047415893.1 → XP_047271849.1  ubiquitin-like modifier-activating enzyme 6 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      71055730..71144265 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350385.1 → XP_054206360.1  ubiquitin-like modifier-activating enzyme 6 isoform X1

    2. XM_054350386.1 → XP_054206361.1  ubiquitin-like modifier-activating enzyme 6 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0AVT1.1 GenPept UniProtKB/Swiss-Prot:A0AVT1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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