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    OTUD6A OTU deubiquitinase 6A [ Homo sapiens (human) ]

    Gene ID: 139562, updated on 10-Dec-2024

    Summary

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    Official Symbol
    OTUD6Aprovided by HGNC
    Official Full Name
    OTU deubiquitinase 6Aprovided by HGNC
    Primary source
    HGNC:HGNC:32312
    See related
    Ensembl:ENSG00000189401 MIM:300714; AllianceGenome:HGNC:32312
    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
    DUBA2; HSHIN6
    Summary
    Deubiquitinating enzymes (DUBs; see MIM 603478) are proteases that specifically cleave ubiquitin (MIM 191339) linkages, negating the action of ubiquitin ligases. DUBA2 belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain.[supplied by OMIM, May 2008]
    Orthologs
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    Genomic context

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    See OTUD6A in Genome Data Viewer
    Location:
    Xq13.1
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (70062457..70064179)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (68495808..68497530)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (69282307..69284029)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ectodysplasin A Neighboring gene microRNA 676 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:69306192-69306426 Neighboring gene acyl-CoA wax alcohol acyltransferase 2 Neighboring gene MED14-independent group 3 enhancer GRCh37_chrX:69330633-69331832 Neighboring gene MT-CYB pseudogene 31 Neighboring gene MT-ND6 pseudogene 31

    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. Ovarian tumor deubiquitinase 6A regulates cell proliferation via deubiquitination of nucleolin and caspase‑7. Kim SH, et al. Int J Oncol, 2022 Oct. PMID 36082810
    2. OTUD6A orchestrates complex modulation of TEAD4-mediated transcriptional programs. Kim HJ, et al. FEBS Lett, 2024 May. PMID 38594215
    3. Deubiquitinase OTUD6A promotes proliferation of cancer cells via regulating Drp1 stability and mitochondrial fission. Shi L, et al. Mol Oncol, 2020 Dec. PMID 33070427, Free PMC Article
    4. OTUD6A promotes prostate tumorigenesis via deubiquitinating Brg1 and AR. Fu X, et al. Commun Biol, 2022 Mar 1. PMID 35233061, Free PMC Article
    5. Deubiquitinase OTUD6a drives cardiac inflammation and hypertrophy by deubiquitination of STING. Fang Z, et al. Biochim Biophys Acta Mol Basis Dis, 2024 Apr. PMID 38342418

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. OTUD6A orchestrates complex modulation of TEAD4-mediated transcriptional programs.
      Title: OTUD6A orchestrates complex modulation of TEAD4-mediated transcriptional programs.
    2. Deubiquitinase OTUD6a drives cardiac inflammation and hypertrophy by deubiquitination of STING.
      Title: Deubiquitinase OTUD6a drives cardiac inflammation and hypertrophy by deubiquitination of STING.
    3. OTUD6A in tubular epithelial cells mediates angiotensin II-induced kidney injury by targeting STAT3.
      Title: OTUD6A in tubular epithelial cells mediates angiotensin II-induced kidney injury by targeting STAT3.
    4. Deubiquitinase OTUD6A promotes breast cancer progression by increasing TopBP1 stability and rendering tumor cells resistant to DNA-damaging therapy.
      Title: Deubiquitinase OTUD6A promotes breast cancer progression by increasing TopBP1 stability and rendering tumor cells resistant to DNA-damaging therapy.
    5. Ovarian tumor deubiquitinase 6A regulates cell proliferation via deubiquitination of nucleolin and caspase7.
      Title: Ovarian tumor deubiquitinase 6A regulates cell proliferation via deubiquitination of nucleolin and caspase‑7.
    6. Prostate-specific oncogene OTUD6A promotes prostatic tumorigenesis via deubiquitinating and stabilizing c-Myc.
      Title: Prostate-specific oncogene OTUD6A promotes prostatic tumorigenesis via deubiquitinating and stabilizing c-Myc.
    7. OTUD6A promotes prostate tumorigenesis via deubiquitinating Brg1 and AR.
      Title: OTUD6A promotes prostate tumorigenesis via deubiquitinating Brg1 and AR.
    8. Deubiquitinase OTUD6A promotes proliferation of cancer cells via regulating Drp1 stability and mitochondrial fission.
      Title: Deubiquitinase OTUD6A promotes proliferation of cancer cells via regulating Drp1 stability and mitochondrial fission.
    9. OTUD6A Is an Aurora Kinase A-Specific Deubiquitinase.
      Title: OTUD6A Is an Aurora Kinase A-Specific Deubiquitinase.
    Submit: New GeneRIF Correction

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ25831

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cysteine-type deubiquitinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cysteine-type deubiquitinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein K11-linked deubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein K27-linked deubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein K29-linked deubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein K33-linked deubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    OTU domain-containing protein 6A
    Names
    HIN-6 protease
    NP_997203.1

    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_207320.3 → NP_997203.1  OTU domain-containing protein 6A

      See identical proteins and their annotated locations for NP_997203.1

      Status: VALIDATED

      Source sequence(s)
      AK098697, AL158141
      Consensus CDS
      CCDS14395.1
      UniProtKB/Swiss-Prot
      B2RPB7, Q7L8S5
      Related
      ENSP00000339389.2, ENST00000338352.3
      Conserved Domains (2) summary
      COG5539
      Location:5 → 271
      COG5539; Predicted cysteine protease (OTU family) [Posttranslational modification, protein turnover, chaperones]
      pfam02338
      Location:147 → 269
      OTU; OTU-like cysteine protease

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      70062457..70064179
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      68495808..68497530
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7L8S5.1 GenPept UniProtKB/Swiss-Prot:Q7L8S5

    Gene LinkOut

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

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