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    Ube2a ubiquitin-conjugating enzyme E2A [ Mus musculus (house mouse) ]

    Gene ID: 22209, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Ube2aprovided by MGI
    Official Full Name
    ubiquitin-conjugating enzyme E2Aprovided by MGI
    Primary source
    MGI:MGI:102959
    See related
    Ensembl:ENSMUSG00000016308 AllianceGenome:MGI:102959
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    HR6A; HHR6A; Mhr6a
    Summary
    Enables ubiquitin conjugating enzyme activity and ubiquitin protein ligase binding activity. Involved in positive regulation of mitophagy. Acts upstream of or within blastocyst hatching; maternal process involved in female pregnancy; and protein ubiquitination. Located in XY body and chromatin. Is expressed in several structures, including alimentary system; brain; female reproductive system; integumental system; and respiratory system. Human ortholog(s) of this gene implicated in syndromic X-linked intellectual disability Nascimento type. Orthologous to human UBE2A (ubiquitin conjugating enzyme E2 A). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in placenta adult (RPKM 13.3), CNS E18 (RPKM 11.1) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Ube2a in Genome Data Viewer
    Location:
    X A3.3; X 21.28 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (36137948..36147875)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (36874295..36884222)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene mitochondrial dynamic related lncRNA Neighboring gene STARR-seq mESC enhancer starr_47006 Neighboring gene STING1 ER exit protein 1 Neighboring gene 60S ribosomal protein L39 pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E11047 Neighboring gene NF-kappaB repressing factor Neighboring gene predicted gene 15008 Neighboring gene septin 6

    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. An essential role for UBE2A/HR6A in learning and memory and mGLUR-dependent long-term depression. Bruinsma CF, et al. Hum Mol Genet, 2016 Jan 1. PMID 26476408
    2. Disruption of pre-TCR expression accelerates lymphomagenesis in E2A-deficient mice. Engel I, et al. Proc Natl Acad Sci U S A, 2002 Aug 20. PMID 12172006, Free PMC Article
    3. Loss of HR6B ubiquitin-conjugating activity results in damaged synaptonemal complex structure and increased crossing-over frequency during the male meiotic prophase. Baarends WM, et al. Mol Cell Biol, 2003 Feb. PMID 12556476, Free PMC Article
    4. Enhanced genomic instability and defective postreplication repair in RAD18 knockout mouse embryonic stem cells. Tateishi S, et al. Mol Cell Biol, 2003 Jan. PMID 12509447, Free PMC Article
    5. The ubiquitin-conjugating DNA repair enzyme HR6A is a maternal factor essential for early embryonic development in mice. Roest HP, et al. Mol Cell Biol, 2004 Jun. PMID 15169909, Free PMC Article

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. results indicate a causal role of UBE2A in learning and mGLUR-dependent long-term depression
      Title: An essential role for UBE2A/HR6A in learning and memory and mGLUR-dependent long-term depression.
    2. RNF168, in complex with RAD6A or RAD6B, is activated in the DNA-damage-induced protein ubiquitination cascade.
      Title: RNF168 forms a functional complex with RAD6 during the DNA damage response.
    3. Disruption of pre-TCR expression accelerates lymphomagenesis in E2A-deficient mice.
      Title: Disruption of pre-TCR expression accelerates lymphomagenesis in E2A-deficient mice.
    4. signaling through Notch modulates the turnover of E2A proteins
      Title: Notch-induced E2A ubiquitination and degradation are controlled by MAP kinase activities.
    5. absence of mHR6A in oocytes prevents development beyond the embryonic two-cell stage
      Title: The ubiquitin-conjugating DNA repair enzyme HR6A is a maternal factor essential for early embryonic development in mice.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (3)  1 citation

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin conjugating enzyme activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin conjugating enzyme activity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    enables ubiquitin conjugating enzyme activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ubiquitin conjugating enzyme activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables ubiquitin protein ligase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ubiquitin protein ligase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ubiquitin-protein transferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ubiquitin-protein transferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in DNA repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in DNA repair ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in G2/M transition of mitotic cell cycle ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within blastocyst hatching IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in chromatin remodeling ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within in utero embryonic development IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    NOT acts_upstream_of_or_within in utero embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within maternal process involved in female pregnancy IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of mitophagy IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of mitophagy ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein K11-linked ubiquitination ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein K11-linked ubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein K48-linked ubiquitination ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein K48-linked ubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein polyubiquitination 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 response to UV ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    part_of HULC complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of HULC complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of HULC complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in XY body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in chromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in late endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lysosome IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ubiquitin-conjugating enzyme E2 A
    Names
    E2 ubiquitin-conjugating enzyme A
    RAD6 homolog A
    ubiquitin carrier protein A
    ubiquitin-conjugating enzyme E2A (RAD6 homolog)
    ubiquitin-conjugating enzyme HR6A
    ubiquitin-protein ligase A
    NP_001300625.1
    NP_062642.1

    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_001313696.1 → NP_001300625.1  ubiquitin-conjugating enzyme E2 A isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction in the 3' end compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AA013850, AK163966, AK164074, BE994531
      Consensus CDS
      CCDS85765.1
      UniProtKB/TrEMBL
      Q3TQ27, Q3TUV9
      Related
      ENSMUSP00000144242.2, ENSMUST00000202991.4
      Conserved Domains (1) summary
      pfam00179
      Location:8 → 142
      UQ_con; Ubiquitin-conjugating enzyme

    2. NM_019668.4 → NP_062642.1  ubiquitin-conjugating enzyme E2 A isoform 1

      See identical proteins and their annotated locations for NP_062642.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA013850, AK164074, BE994531
      Consensus CDS
      CCDS30064.1
      UniProtKB/Swiss-Prot
      Q9Z255
      UniProtKB/TrEMBL
      Q3TUV9, Q3UCS1
      Related
      ENSMUSP00000016452.8, ENSMUST00000016452.11
      Conserved Domains (1) summary
      pfam00179
      Location:8 → 145
      UQ_con; Ubiquitin-conjugating enzyme

    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
      36137948..36147875
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Z255.1 GenPept UniProtKB/Swiss-Prot:Q9Z255

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