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    OTUD5 OTU deubiquitinase 5 [ Homo sapiens (human) ]

    Gene ID: 55593, updated on 10-Dec-2024

    Summary

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    Official Symbol
    OTUD5provided by HGNC
    Official Full Name
    OTU deubiquitinase 5provided by HGNC
    Primary source
    HGNC:HGNC:25402
    See related
    Ensembl:ENSG00000068308 MIM:300713; AllianceGenome:HGNC:25402
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DUBA; MCAND
    Summary
    This gene encodes a member of the OTU (ovarian tumor) domain-containing cysteine protease superfamily. The OTU domain confers deubiquitinase activity and the encoded protein has been shown to suppress the type I interferon-dependent innate immune response by cleaving the polyubiquitin chain from an essential type I interferon adaptor protein. Cleavage results in disassociation of the adaptor protein from a downstream signaling complex and disruption of the type I interferon signaling cascade. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Oct 2008]
    Expression
    Ubiquitous expression in brain (RPKM 16.1), spleen (RPKM 14.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See OTUD5 in Genome Data Viewer
    Location:
    Xp11.23
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (48922024..48958381, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (48332501..48368844, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (48779301..48815643, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 35 member A2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29618 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29619 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29620 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20826 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20827 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29621 Neighboring gene Pim-2 proto-oncogene, serine/threonine kinase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:48778351-48779235 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:48780780-48781287 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:48781288-48781794 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:48784732-48785370 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:48794231-48795004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29622 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29623 Neighboring gene CRISPRi-validated PIM2 and PQBP1 regulatory elements GRCh37_chrX:48797400-48798550 and GRCh37_chrX:48797725-48798225 Neighboring gene CRISPRi-validated PIM2 and PQBP1 regulatory elements GRCh37_chrX:48798640-48799830 and GRCh37_chrX:48798965-48799505 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20828 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20829 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20830 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29625 Neighboring gene Sharpr-MPRA regulatory region 12141 Neighboring gene RNA, U6 small nuclear 722, pseudogene Neighboring gene potassium voltage-gated channel subfamily D member 1

    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. The deubiquitinase OTUD5 regulates Ku80 stability and non-homologous end joining. Li F, et al. Cell Mol Life Sci, 2019 Oct. PMID 30980112, Free PMC Article
    2. The Regulation and Double-Edged Roles of the Deubiquitinase OTUD5. Fu L, et al. Cells, 2023 Apr 14. PMID 37190070, Free PMC Article
    3. An X-linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene. Tripolszki K, et al. Clin Genet, 2021 Feb. PMID 33131077
    4. Conformational Dynamics of Deubiquitinase A and Functional Implications. Kabra A, et al. Biochemistry, 2021 Jan 26. PMID 33417762, Free PMC Article
    5. Deubiquitinase OTUD5 modulates mTORC1 signaling to promote bladder cancer progression. Hou T, et al. Cell Death Dis, 2022 Sep 9. PMID 36085200, Free PMC Article

    See all (64) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. OTUD5 promotes end-joining of deprotected telomeres by promoting ATM-dependent phosphorylation of KAP1[S824].
      Title: OTUD5 promotes end-joining of deprotected telomeres by promoting ATM-dependent phosphorylation of KAP1(S824).
    2. OTUD5 promotes the growth of hepatocellular carcinoma by deubiquitinating and stabilizing SLC38A1.
      Title: OTUD5 promotes the growth of hepatocellular carcinoma by deubiquitinating and stabilizing SLC38A1.
    3. Hepatocyte Deubiquitinating Enzyme OTUD5 Deficiency is a Key Aggravator for Metabolic Dysfunction-Associated Steatohepatitis by Disturbing Mitochondrial Homeostasis.
      Title: Hepatocyte Deubiquitinating Enzyme OTUD5 Deficiency is a Key Aggravator for Metabolic Dysfunction-Associated Steatohepatitis by Disturbing Mitochondrial Homeostasis.
    4. Autophagy of OTUD5 destabilizes GPX4 to confer ferroptosis-dependent kidney injury.
      Title: Autophagy of OTUD5 destabilizes GPX4 to confer ferroptosis-dependent kidney injury.
    5. The Regulation and Double-Edged Roles of the Deubiquitinase OTUD5.
      Title: The Regulation and Double-Edged Roles of the Deubiquitinase OTUD5.
    6. Mechanism of OTUD5 in non-small cell lung cancer cell proliferation, invasion, and migration.
      Title: Mechanism of OTUD5 in non-small cell lung cancer cell proliferation, invasion, and migration.
    7. Deubiquitinase OTUD5 modulates mTORC1 signaling to promote bladder cancer progression.
      Title: Deubiquitinase OTUD5 modulates mTORC1 signaling to promote bladder cancer progression.
    8. Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation.
      Title: Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation.
    9. Deubiquitinase OTUD5 is a positive regulator of mTORC1 and mTORC2 signaling pathways.
      Title: Deubiquitinase OTUD5 is a positive regulator of mTORC1 and mTORC2 signaling pathways.
    10. An X-linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene.
      Title: An X-linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene.
    Submit: New GeneRIF Correction See all GeneRIFs (19)

    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
    Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
    MedGen: C5542341 OMIM: 301056 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)

    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

    Clone Names

    • MGC104871, DKFZp761A052

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables K48-linked deubiquitinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables K48-linked deubiquitinase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables K63-linked deubiquitinase activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables K63-linked deubiquitinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables K63-linked deubiquitinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables K63-linked deubiquitinase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 deubiquitinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables deubiquitinase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of canonical Wnt signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of type I interferon production TAS
    Traceable Author Statement
    more info
    		  
    involved_in neural crest cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of TORC1 signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of TORC1 signaling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of TORC2 signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of TORC2 signaling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein K48-linked deubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein K48-linked deubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein K63-linked deubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein K63-linked deubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein deubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein deubiquitination TAS
    Traceable Author Statement
    more info
    		  
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to lipopolysaccharide IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    OTU domain-containing protein 5
    Names
    OTU domain containing 5
    deubiquinating enzyme A
    deubiquitinase A
    deubiquitinating enzyme A
    NP_001129629.1
    NP_001129630.1
    NP_001129631.1
    NP_060072.1
    XP_005272679.1
    XP_005278096.1
    XP_005278099.1
    XP_006724600.1
    XP_011542234.1
    XP_011542236.1
    XP_016885117.1
    XP_016885119.1
    XP_024308164.1
    XP_024308165.1
    XP_047298204.1
    XP_054183345.1
    XP_054183346.1
    XP_054183347.1
    XP_054183348.1
    XP_054183349.1
    XP_054183350.1
    XP_054183351.1
    XP_054183352.1
    XP_054183353.1
    XP_054183354.1
    XP_054183355.1
    XP_054189376.1
    XP_054189377.1
    XP_054189378.1
    XP_054189379.1
    XP_054189380.1
    XP_054189381.1
    XP_054189382.1
    XP_054189383.1
    XP_054189384.1
    XP_054189385.1
    XP_054189386.1

    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_001136157.2 → NP_001129629.1  OTU domain-containing protein 5 isoform b

      See identical proteins and their annotated locations for NP_001129629.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame portion of an internal coding exon, compared to variant 1, resulting in a shorter protein (isoform b) compared to isoform a. Variants 2 and 3 encode the same isoform (b).
      Source sequence(s)
      AL137509, BC009917, BC028225, CB243128
      Consensus CDS
      CCDS48104.1
      UniProtKB/Swiss-Prot
      Q96G74
      Related
      ENSP00000365671.3, ENST00000376488.8
      Conserved Domains (1) summary
      cl19932
      Location:221 → 330
      OTU; OTU-like cysteine protease

    2. NM_001136158.2 → NP_001129630.1  OTU domain-containing protein 5 isoform b

      See identical proteins and their annotated locations for NP_001129630.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR and lacks an in-frame portion of an internal coding exon, compared to variant 1, resulting in a shorter protein compared to isoform a. Variants 2 and 3 encode the same isoform (b).
      Source sequence(s)
      BC009917, BC011738, BC028225, CB243128
      Consensus CDS
      CCDS48104.1
      UniProtKB/Swiss-Prot
      Q96G74
      Related
      ENSP00000379969.3, ENST00000396743.7
      Conserved Domains (1) summary
      cl19932
      Location:221 → 330
      OTU; OTU-like cysteine protease

    3. NM_001136159.2 → NP_001129631.1  OTU domain-containing protein 5 isoform c

      See identical proteins and their annotated locations for NP_001129631.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate in-frame exon in the 5' coding region and uses a downstream start codon, compared to variant 1. The resulting protein (isoform c) has a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AK294590, CB243128, CN368451, DC419901
      Consensus CDS
      CCDS48105.1
      UniProtKB/Swiss-Prot
      Q96G74
      Related
      ENSP00000401629.2, ENST00000428668.2
      Conserved Domains (1) summary
      cl19932
      Location:4 → 113
      OTU; OTU-like cysteine protease

    4. NM_017602.4 → NP_060072.1  OTU domain-containing protein 5 isoform a

      See identical proteins and their annotated locations for NP_060072.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      BC009917, CB243128
      Consensus CDS
      CCDS14313.1
      UniProtKB/Swiss-Prot
      B4DGG7, G5E9D7, Q4KMN9, Q8N6T5, Q96G74, Q9H650, Q9H9U0, Q9NT65
      Related
      ENSP00000156084.4, ENST00000156084.8
      Conserved Domains (1) summary
      cl19932
      Location:221 → 335
      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
      48922024..48958381 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024452397.2 → XP_024308165.1  OTU domain-containing protein 5 isoform X7

      Conserved Domains (1) summary
      cl19932
      Location:4 → 113
      OTU; OTU-like cysteine protease

    2. XM_017029630.2 → XP_016885119.1  OTU domain-containing protein 5 isoform X5

    3. XM_017029628.3 → XP_016885117.1  OTU domain-containing protein 5 isoform X3

      Conserved Domains (1) summary
      cl19932
      Location:221 → 330
      OTU; OTU-like cysteine protease

    4. XM_006724537.4 → XP_006724600.1  OTU domain-containing protein 5 isoform X2

      See identical proteins and their annotated locations for XP_006724600.1

      UniProtKB/Swiss-Prot
      B4DGG7, G5E9D7, Q4KMN9, Q8N6T5, Q96G74, Q9H650, Q9H9U0, Q9NT65
      Conserved Domains (1) summary
      cl19932
      Location:221 → 335
      OTU; OTU-like cysteine protease

    5. XM_005278039.5 → XP_005278096.1  OTU domain-containing protein 5 isoform X1

      See identical proteins and their annotated locations for XP_005278096.1

      Conserved Domains (1) summary
      cl19932
      Location:221 → 335
      OTU; OTU-like cysteine protease

    6. XM_024452396.2 → XP_024308164.1  OTU domain-containing protein 5 isoform X6

      Conserved Domains (1) summary
      cl19932
      Location:4 → 113
      OTU; OTU-like cysteine protease

    7. XM_005278042.4 → XP_005278099.1  OTU domain-containing protein 5 isoform X4

      See identical proteins and their annotated locations for XP_005278099.1

      Conserved Domains (1) summary
      cl19932
      Location:4 → 118
      OTU; OTU-like cysteine protease

    8. XM_005272622.5 → XP_005272679.1  OTU domain-containing protein 5 isoform X3

      Conserved Domains (1) summary
      cl19932
      Location:221 → 330
      OTU; OTU-like cysteine protease

    9. XM_011543932.3 → XP_011542234.1  OTU domain-containing protein 5 isoform X1

      See identical proteins and their annotated locations for XP_011542234.1

      Conserved Domains (1) summary
      cl19932
      Location:221 → 335
      OTU; OTU-like cysteine protease

    10. XM_047442248.1 → XP_047298204.1  OTU domain-containing protein 5 isoform X4

    11. XM_011543934.3 → XP_011542236.1  OTU domain-containing protein 5 isoform X8

      Conserved Domains (1) summary
      cl19932
      Location:2 → 97
      OTU; OTU-like cysteine protease

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791820.1 Reference GRCh38.p14 PATCHES

      Range
      80859..117216 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333410.1 → XP_054189385.1  OTU domain-containing protein 5 isoform X7

    2. XM_054333408.1 → XP_054189383.1  OTU domain-containing protein 5 isoform X5

    3. XM_054333405.1 → XP_054189380.1  OTU domain-containing protein 5 isoform X3

    4. XM_054333403.1 → XP_054189378.1  OTU domain-containing protein 5 isoform X2

      UniProtKB/Swiss-Prot
      B4DGG7, G5E9D7, Q4KMN9, Q8N6T5, Q96G74, Q9H650, Q9H9U0, Q9NT65

    5. XM_054333402.1 → XP_054189377.1  OTU domain-containing protein 5 isoform X1

    6. XM_054333409.1 → XP_054189384.1  OTU domain-containing protein 5 isoform X6

    7. XM_054333406.1 → XP_054189381.1  OTU domain-containing protein 5 isoform X4

    8. XM_054333404.1 → XP_054189379.1  OTU domain-containing protein 5 isoform X3

    9. XM_054333401.1 → XP_054189376.1  OTU domain-containing protein 5 isoform X1

    10. XM_054333407.1 → XP_054189382.1  OTU domain-containing protein 5 isoform X4

    11. XM_054333411.1 → XP_054189386.1  OTU domain-containing protein 5 isoform X8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      48332501..48368844 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327379.1 → XP_054183354.1  OTU domain-containing protein 5 isoform X7

    2. XM_054327377.1 → XP_054183352.1  OTU domain-containing protein 5 isoform X5

    3. XM_054327374.1 → XP_054183349.1  OTU domain-containing protein 5 isoform X3

    4. XM_054327372.1 → XP_054183347.1  OTU domain-containing protein 5 isoform X2

      UniProtKB/Swiss-Prot
      B4DGG7, G5E9D7, Q4KMN9, Q8N6T5, Q96G74, Q9H650, Q9H9U0, Q9NT65

    5. XM_054327371.1 → XP_054183346.1  OTU domain-containing protein 5 isoform X1

    6. XM_054327378.1 → XP_054183353.1  OTU domain-containing protein 5 isoform X6

    7. XM_054327375.1 → XP_054183350.1  OTU domain-containing protein 5 isoform X4

    8. XM_054327373.1 → XP_054183348.1  OTU domain-containing protein 5 isoform X3

    9. XM_054327370.1 → XP_054183345.1  OTU domain-containing protein 5 isoform X1

    10. XM_054327376.1 → XP_054183351.1  OTU domain-containing protein 5 isoform X4

    11. XM_054327380.1 → XP_054183355.1  OTU domain-containing protein 5 isoform X8

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96G74.1 GenPept UniProtKB/Swiss-Prot:Q96G74

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