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    OTUD6B OTU deubiquitinase 6B [ Homo sapiens (human) ]

    Gene ID: 51633, updated on 7-Apr-2024

    Summary

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    Official Symbol
    OTUD6Bprovided by HGNC
    Official Full Name
    OTU deubiquitinase 6Bprovided by HGNC
    Primary source
    HGNC:HGNC:24281
    See related
    Ensembl:ENSG00000155100 MIM:612021; AllianceGenome:HGNC:24281
    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
    DUBA5; CGI-77; DUBA-5; IDDFSDA
    Summary
    This gene encodes a member of the ovarian tumor domain (OTU)-containing subfamily of deubiquitinating enzymes. Deubiquitinating enzymes are primarily involved in removing ubiquitin from proteins targeted for degradation. This protein may function as a negative regulator of the cell cycle in B cells. [provided by RefSeq, Nov 2013]
    Expression
    Ubiquitous expression in brain (RPKM 6.6), testis (RPKM 5.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See OTUD6B in Genome Data Viewer
    Location:
    8q21.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (91070344..91087093)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (92195269..92212018)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (92082572..92099321)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene phosphatidylinositol-4,5-bisphosphate 4-phosphatase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19355 Neighboring gene OTUD6B antisense RNA 1 (head to head) Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27614 Neighboring gene MPRA-validated peak7106 silencer Neighboring gene leucine rich repeat containing 69 Neighboring gene ceruloplasmin pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:92209377-92209886 Neighboring gene microRNA 4661

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Novel biallelic variants affecting the OTU domain of the gene OTUD6B associate with severe intellectual disability syndrome and molecular dynamics simulations. Cingöz S, et al. Eur J Med Genet, 2022 Jun. PMID 35430327, Free PMC Article
    2. OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype. Abdel-Salam GMH, et al. J Hum Genet, 2022 Jan. PMID 34354232
    3. Deubiquitylase OTUD6B stabilizes the mutated pVHL and suppresses cell migration in clear cell renal cell carcinoma. Guo K, et al. Cell Death Dis, 2022 Feb 2. PMID 35110537, Free PMC Article
    4. Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability. Phetthong T, et al. Genes (Basel), 2021 Oct 7. PMID 34680978, Free PMC Article
    5. Studying OTUD6B-OTUB1 Protein-Protein Interaction by Low-Throughput GFP-Trap Assays and High-Throughput AlphaScreen Assays. Weber E, et al. Methods Mol Biol, 2021. PMID 33421002

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Human OTUD6B positively regulates type I IFN antiviral innate immune responses by deubiquitinating and stabilizing IRF3.
      Title: Human OTUD6B positively regulates type I IFN antiviral innate immune responses by deubiquitinating and stabilizing IRF3.
    2. MCTS1 enhances the proliferation of laryngeal squamous cell carcinoma via promoting OTUD6B-1 mediated LIN28B deubiquitination.
      Title: MCTS1 enhances the proliferation of laryngeal squamous cell carcinoma via promoting OTUD6B-1 mediated LIN28B deubiquitination.
    3. The OTUD6B-LIN28B-MYC axis determines the proliferative state in multiple myeloma.
      Title: The OTUD6B-LIN28B-MYC axis determines the proliferative state in multiple myeloma.
    4. Novel biallelic variants affecting the OTU domain of the gene OTUD6B associate with severe intellectual disability syndrome and molecular dynamics simulations.
      Title: Novel biallelic variants affecting the OTU domain of the gene OTUD6B associate with severe intellectual disability syndrome and molecular dynamics simulations.
    5. OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype.
      Title: OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype.
    6. Deubiquitylase OTUD6B stabilizes the mutated pVHL and suppresses cell migration in clear cell renal cell carcinoma.
      Title: Deubiquitylase OTUD6B stabilizes the mutated pVHL and suppresses cell migration in clear cell renal cell carcinoma.
    7. Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability.
      Title: Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability.
    8. DUB-independent regulation of pVHL by OTUD6B suppresses hepatocellular carcinoma.
      Title: DUB-independent regulation of pVHL by OTUD6B suppresses hepatocellular carcinoma.
    9. OTUD6B-AS1 Might Be a Novel Regulator of Apoptosis in Systemic Sclerosis.
      Title: OTUD6B-AS1 Might Be a Novel Regulator of Apoptosis in Systemic Sclerosis.
    10. The global OTUD6B expression level does not change significantly between nonneoplastic and malignant tissues, suggesting that modifications of splicing factors during the process of transformation are responsible for this isoform switch.
      Title: Deubiquitinase OTUD6B Isoforms Are Important Regulators of Growth and Proliferation.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    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

    Associated conditions

    Description Tests
    Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
    MedGen: C4479520 OMIM: 617452 GeneReviews: Not available
    		Compare labs

    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human OTU domain containing 6B (OTUD6B) at amino acid residues 5-6 by the HIV-1 protease PubMed

    Go to the HIV-1, Human Interaction Database

    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 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 cell population proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in proteasome assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein deubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein deubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein deubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of eukaryotic translation initiation factor 4F complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    deubiquitinase OTUD6B
    Names
    OTU domain containing 6B
    OTU domain-containing protein 6B
    NP_001273674.1
    NP_001402951.1
    NP_057107.4
    XP_011515431.2
    XP_047277820.1
    XP_054216621.1
    XP_054216622.1

    NCBI Reference Sequences (RefSeq)

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    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_001286745.3 → NP_001273674.1  deubiquitinase OTUD6B isoform 2

      See identical proteins and their annotated locations for NP_001273674.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC087439, AK293843, BQ000463
      Consensus CDS
      CCDS69513.1
      UniProtKB/Swiss-Prot
      Q8N6M0
      Related
      ENSP00000481196.1, ENST00000615618.1
      Conserved Domains (1) summary
      pfam02338
      Location:52 → 177
      OTU; OTU-like cysteine protease

    2. NM_001416022.1 → NP_001402951.1  deubiquitinase OTUD6B isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC087439

    3. NM_016023.5 → NP_057107.4  deubiquitinase OTUD6B isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AA748163, BC029760, BI712470, DA034027
      Consensus CDS
      CCDS6253.3
      UniProtKB/Swiss-Prot
      A8K6I1, B4DEY0, Q8N6M0, Q9NTA4, Q9Y387
      UniProtKB/TrEMBL
      A0A087X0W9
      Related
      ENSP00000384190.4, ENST00000404789.8
      Conserved Domains (2) summary
      COG5539
      Location:18 → 280
      COG5539; Predicted cysteine protease (OTU family) [Posttranslational modification, protein turnover, chaperones]
      pfam02338
      Location:153 → 278
      OTU; OTU-like cysteine protease

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      91070344..91087093
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421864.1 → XP_047277820.1  deubiquitinase OTUD6B isoform X2

    2. XM_011517129.3 → XP_011515431.2  deubiquitinase OTUD6B isoform X1

      UniProtKB/Swiss-Prot
      Q8N6M0
      Conserved Domains (1) summary
      pfam02338
      Location:52 → 177
      OTU; OTU-like cysteine protease

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      92195269..92212018
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360647.1 → XP_054216622.1  deubiquitinase OTUD6B isoform X2

    2. XM_054360646.1 → XP_054216621.1  deubiquitinase OTUD6B isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N6M0.1 GenPept UniProtKB/Swiss-Prot:Q8N6M0

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