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

    Gene ID: 22209, updated on 2-Nov-2024

    Summary

    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, Nov 2024]
    Expression
    Ubiquitous expression in placenta adult (RPKM 13.3), CNS E18 (RPKM 11.1) and 28 other tissues See more
    Orthologs
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    Genomic context

    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

    Expression

    • Project title: Mouse ENCODE transcriptome data 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001313696.1NP_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:8142
      UQ_con; Ubiquitin-conjugating enzyme
    2. NM_019668.4NP_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:8145
      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)