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    OTUD5 OTU deubiquitinase 5 [ Homo sapiens (human) ]

    Gene ID: 55593, updated on 5-May-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    Xp11.23
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (48922024..48958381, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (48332501..48368844, complement)
    105.20220307 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC104871, DKFZp761A052

    Gene Ontology Provided by GOA

    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

    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)

    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_001136157.2NP_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:221330
      OTU; OTU-like cysteine protease
    2. NM_001136158.2NP_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:221330
      OTU; OTU-like cysteine protease
    3. NM_001136159.2NP_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:4113
      OTU; OTU-like cysteine protease
    4. NM_017602.4NP_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:221335
      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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      48922024..48958381 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Conserved Domains (1) summary
      cl19932
      Location:4113
      OTU; OTU-like cysteine protease
    2. XM_017029630.2XP_016885119.1  OTU domain-containing protein 5 isoform X5

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

      Conserved Domains (1) summary
      cl19932
      Location:221330
      OTU; OTU-like cysteine protease
    4. XM_006724537.4XP_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:221335
      OTU; OTU-like cysteine protease
    5. XM_005278039.5XP_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:221335
      OTU; OTU-like cysteine protease
    6. XM_024452396.2XP_024308164.1  OTU domain-containing protein 5 isoform X6

      Conserved Domains (1) summary
      cl19932
      Location:4113
      OTU; OTU-like cysteine protease
    7. XM_005278042.4XP_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:4118
      OTU; OTU-like cysteine protease
    8. XM_005272622.5XP_005272679.1  OTU domain-containing protein 5 isoform X3

      Conserved Domains (1) summary
      cl19932
      Location:221330
      OTU; OTU-like cysteine protease
    9. XM_011543932.3XP_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:221335
      OTU; OTU-like cysteine protease
    10. XM_047442248.1XP_047298204.1  OTU domain-containing protein 5 isoform X4

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

      Conserved Domains (1) summary
      cl19932
      Location:297
      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_054333410.1XP_054189385.1  OTU domain-containing protein 5 isoform X7

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

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

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

      UniProtKB/Swiss-Prot
      B4DGG7, G5E9D7, Q4KMN9, Q8N6T5, Q96G74, Q9H650, Q9H9U0, Q9NT65
    5. XM_054333402.1XP_054189377.1  OTU domain-containing protein 5 isoform X1

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

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

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

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

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

    11. XM_054333411.1XP_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_054327379.1XP_054183354.1  OTU domain-containing protein 5 isoform X7

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

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

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

      UniProtKB/Swiss-Prot
      B4DGG7, G5E9D7, Q4KMN9, Q8N6T5, Q96G74, Q9H650, Q9H9U0, Q9NT65
    5. XM_054327371.1XP_054183346.1  OTU domain-containing protein 5 isoform X1

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

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

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

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

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

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