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    Otud7a OTU domain containing 7A [ Mus musculus (house mouse) ]

    Gene ID: 170711, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Otud7aprovided by MGI
    Official Full Name
    OTU domain containing 7Aprovided by MGI
    Primary source
    MGI:MGI:2158505
    See related
    Ensembl:ENSMUSG00000033510 AllianceGenome:MGI:2158505
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Otud7
    Summary
    Predicted to enable K63-linked polyubiquitin modification-dependent protein binding activity and cysteine-type deubiquitinase activity. Predicted to be involved in protein K11-linked deubiquitination and protein deubiquitination involved in ubiquitin-dependent protein catabolic process. Predicted to be active in cytoplasm and nucleus. Used to study chromosome 15q13.3 microdeletion syndrome. Orthologous to human OTUD7A (OTU deubiquitinase 7A). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in cerebellum adult (RPKM 5.0), cortex adult (RPKM 4.3) and 6 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Otud7a in Genome Data Viewer
    Location:
    7 C; 7 34.52 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (63094493..63415980)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (63444745..63766232)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene cholinergic receptor, nicotinic, alpha polypeptide 7 Neighboring gene STARR-seq mESC enhancer starr_19001 Neighboring gene STARR-seq mESC enhancer starr_19002 Neighboring gene RIKEN cDNA 4930554H23 gene Neighboring gene STARR-seq mESC enhancer starr_19003 Neighboring gene thyroid hormone receptor associated protein 3 pseudogene Neighboring gene high mobility group box 2 pseudogene Neighboring gene NOP16 nucleolar protein homolog pseudogene Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:70961406-70961515 Neighboring gene ribosomal protein S11 pseudogene Neighboring gene predicted gene, 39023 Neighboring gene uncharacterized protein C9orf85 homolog pseudogene

    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. Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome. Yin J, et al. Am J Hum Genet, 2018 Feb 1. PMID 29395075, Free PMC Article
    2. OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome. Uddin M, et al. Am J Hum Genet, 2018 Feb 1. PMID 29395074, Free PMC Article
    3. Trabid, a new positive regulator of Wnt-induced transcription with preference for binding and cleaving K63-linked ubiquitin chains. Tran H, et al. Genes Dev, 2008 Feb 15. PMID 18281465, Free PMC Article
    4. Genetic mapping of putative Chrna7 and Luzp2 neuronal transcriptional enhancers due to impact of a transgene-insertion and 6.8 Mb deletion in a mouse model of Prader-Willi and Angelman syndromes. Stefan M, et al. BMC Genomics, 2005 Nov 9. PMID 16280085, Free PMC Article
    5. Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome. Unda BK, et al. Mol Psychiatry, 2023 Apr. PMID 36604605, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. decreased OTUD7A dosage is a major contributor to the neurodevelopmental phenotypes associated with 15q13.3 microdeletion syndrome
      Title: Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome.
    2. OTUD7A is a major regulatory gene for 15q13.3 microdeletion syndrome phenotypes.
      Title: OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome.
    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 DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables K63-linked polyubiquitin modification-dependent protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cysteine-type deubiquitinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cysteine-type deubiquitinase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables cysteine-type deubiquitinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein K11-linked deubiquitination ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein K11-linked deubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein deubiquitination involved in ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    OTU domain-containing protein 7A
    Names
    Cezanne 2 protein
    zinc finger protein Cezanne 2
    NP_570950.1
    XP_006540746.1
    XP_011249113.1
    XP_017177494.1
    XP_030098045.1
    XP_030098046.1
    XP_030098047.1
    XP_036008616.1
    XP_036008617.1

    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_130880.1 → NP_570950.1  OTU domain-containing protein 7A

      See identical proteins and their annotated locations for NP_570950.1

      Status: PROVISIONAL

      Source sequence(s)
      AJ430384
      Consensus CDS
      CCDS21330.1
      UniProtKB/Swiss-Prot
      Q8R554
      Related
      ENSMUSP00000057282.8, ENSMUST00000058476.14
      Conserved Domains (3) summary
      cd14347
      Location:26 → 68
      UBA_Cezanne_like; UBA-like domain found in OTU domain-containing proteins OTU7A, OTU7B and similar proteins
      pfam01754
      Location:888 → 911
      zf-A20; A20-like zinc finger
      cl19932
      Location:207 → 371
      OTU; OTU-like cysteine protease

    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_000073.7 Reference GRCm39 C57BL/6J

      Range
      63094493..63415980
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030242185.1 → XP_030098045.1  OTU domain-containing protein 7A isoform X1

      Conserved Domains (4) summary
      PRK07764
      Location:702 → 884
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      cd14347
      Location:26 → 68
      UBA_Cezanne_like; UBA-like domain found in OTU domain-containing proteins OTU7A, OTU7B and similar proteins
      pfam01754
      Location:895 → 918
      zf-A20; A20-like zinc finger
      cl19932
      Location:207 → 378
      OTU; OTU-like cysteine protease

    2. XM_030242186.1 → XP_030098046.1  OTU domain-containing protein 7A isoform X2

      Conserved Domains (4) summary
      PRK07764
      Location:701 → 883
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      cd14347
      Location:26 → 68
      UBA_Cezanne_like; UBA-like domain found in OTU domain-containing proteins OTU7A, OTU7B and similar proteins
      pfam01754
      Location:894 → 917
      zf-A20; A20-like zinc finger
      cl19932
      Location:206 → 377
      OTU; OTU-like cysteine protease

    3. XM_036152724.1 → XP_036008617.1  OTU domain-containing protein 7A isoform X1

      Conserved Domains (4) summary
      PRK07764
      Location:702 → 884
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      cd14347
      Location:26 → 68
      UBA_Cezanne_like; UBA-like domain found in OTU domain-containing proteins OTU7A, OTU7B and similar proteins
      pfam01754
      Location:895 → 918
      zf-A20; A20-like zinc finger
      cl19932
      Location:207 → 378
      OTU; OTU-like cysteine protease

    4. XM_011250811.3 → XP_011249113.1  OTU domain-containing protein 7A isoform X1

      See identical proteins and their annotated locations for XP_011249113.1

      Conserved Domains (4) summary
      PRK07764
      Location:702 → 884
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      cd14347
      Location:26 → 68
      UBA_Cezanne_like; UBA-like domain found in OTU domain-containing proteins OTU7A, OTU7B and similar proteins
      pfam01754
      Location:895 → 918
      zf-A20; A20-like zinc finger
      cl19932
      Location:207 → 378
      OTU; OTU-like cysteine protease

    5. XM_017322005.1 → XP_017177494.1  OTU domain-containing protein 7A isoform X2

      Conserved Domains (4) summary
      PRK07764
      Location:701 → 883
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      cd14347
      Location:26 → 68
      UBA_Cezanne_like; UBA-like domain found in OTU domain-containing proteins OTU7A, OTU7B and similar proteins
      pfam01754
      Location:894 → 917
      zf-A20; A20-like zinc finger
      cl19932
      Location:206 → 377
      OTU; OTU-like cysteine protease

    6. XM_030242187.2 → XP_030098047.1  OTU domain-containing protein 7A isoform X1

      Conserved Domains (4) summary
      PRK07764
      Location:702 → 884
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      cd14347
      Location:26 → 68
      UBA_Cezanne_like; UBA-like domain found in OTU domain-containing proteins OTU7A, OTU7B and similar proteins
      pfam01754
      Location:895 → 918
      zf-A20; A20-like zinc finger
      cl19932
      Location:207 → 378
      OTU; OTU-like cysteine protease

    7. XM_036152723.1 → XP_036008616.1  OTU domain-containing protein 7A isoform X1

      Conserved Domains (4) summary
      PRK07764
      Location:702 → 884
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      cd14347
      Location:26 → 68
      UBA_Cezanne_like; UBA-like domain found in OTU domain-containing proteins OTU7A, OTU7B and similar proteins
      pfam01754
      Location:895 → 918
      zf-A20; A20-like zinc finger
      cl19932
      Location:207 → 378
      OTU; OTU-like cysteine protease

    8. XM_006540683.5 → XP_006540746.1  OTU domain-containing protein 7A isoform X3

      Conserved Domains (3) summary
      PRK07764
      Location:649 → 831
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      pfam01754
      Location:842 → 865
      zf-A20; A20-like zinc finger
      cl19932
      Location:154 → 325
      OTU; OTU-like cysteine protease
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8R554.1 GenPept UniProtKB/Swiss-Prot:Q8R554

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