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OTUD5 OTU deubiquitinase 5 [ Homo sapiens (human) ]

Gene ID: 55593, updated on 5-Mar-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
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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_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

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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. The Regulation and Double-Edged Roles of the Deubiquitinase OTUD5. Fu L, et al. Cells, 2023 Apr 14. PMID 37190070, Free PMC Article
  2. 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
  3. Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation. Beck DB, et al. Sci Adv, 2021 Jan. PMID 33523931, Free PMC Article
  4. Conformational Dynamics of Deubiquitinase A and Functional Implications. Kabra A, et al. Biochemistry, 2021 Jan 26. PMID 33417762, Free PMC Article
  5. 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

See all (55) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. Autophagy of OTUD5 destabilizes GPX4 to confer ferroptosis-dependent kidney injury.
    Title: Autophagy of OTUD5 destabilizes GPX4 to confer ferroptosis-dependent kidney injury.
  3. The Regulation and Double-Edged Roles of the Deubiquitinase OTUD5.
    Title: The Regulation and Double-Edged Roles of the Deubiquitinase OTUD5.
  4. 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.
  5. Deubiquitinase OTUD5 modulates mTORC1 signaling to promote bladder cancer progression.
    Title: Deubiquitinase OTUD5 modulates mTORC1 signaling to promote bladder cancer progression.
  6. 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.
  7. 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.
  8. 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.
  9. OTUD5-mediated deubiquitination of YAP in macrophage promotes M2 phenotype polarization and favors triple-negative breast cancer progression.
    Title: OTUD5-mediated deubiquitination of YAP in macrophage promotes M2 phenotype polarization and favors triple-negative breast cancer progression.
  10. Conformational Dynamics of Deubiquitinase A and Functional Implications.
    Title: Conformational Dynamics of Deubiquitinase A and Functional Implications.
Submit: New GeneRIF Correction See all GeneRIFs (17)

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
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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

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 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 IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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 
involved_in protein deubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within 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
  
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_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_024452397.2 → 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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