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OTUD1 OTU deubiquitinase 1 [ Homo sapiens (human) ]

Gene ID: 220213, updated on 2-Nov-2024

Summary

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Official Symbol
OTUD1provided by HGNC
Official Full Name
OTU deubiquitinase 1provided by HGNC
Primary source
HGNC:HGNC:27346
See related
Ensembl:ENSG00000165312 MIM:612022; AllianceGenome:HGNC:27346
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
DUBA7; OTDC1
Summary
Deubiquitinating enzymes (DUBs; see MIM 603478) are proteases that specifically cleave ubiquitin (MIM 191339) linkages, negating the action of ubiquitin ligases. DUBA7 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 OTUD1 in Genome Data Viewer
Location:
10p12.2
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (23439075..23442377)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (23459207..23462509)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (23728004..23731306)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene chromosome 10 open reading frame 67 Neighboring gene C10orf67 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 3018 Neighboring gene uncharacterized LOC124902591 Neighboring gene NANOG hESC enhancer GRCh37_chr10:23698923-23699424 Neighboring gene MPRA-validated peak907 silencer Neighboring gene MPRA-validated peak908 silencer Neighboring gene MIR1254-2-OTUD1 intergenic CAGE-defined monocyte enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2219 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2218 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2217 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:23800961-23802160 Neighboring gene uncharacterized LOC105376454 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3152 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2220 Neighboring gene KIAA1217 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:24113200-24113379 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:24207043-24207938 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:24207939-24208832 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:24385043-24385660 Neighboring gene nucleoporin 35 pseudogene 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. A putative OTU domain-containing protein 1 deubiquitinating enzyme is differentially expressed in thyroid cancer and identifies less-aggressive tumours. Carneiro AP, et al. Br J Cancer, 2014 Jul 29. PMID 24937664, Free PMC Article
  2. Deubiquitinase OTUD1 Resolves Stalled Translation on polyA and Rare Codon Rich mRNAs. Snaurova R, et al. Mol Cell Biol, 2022 Dec 15. PMID 36445135, Free PMC Article
  3. The Deubiquitinase OTUD1 Suppresses Secretory Neutrophil Polarization And Ameliorates Immunopathology of Periodontitis. Song J, et al. Adv Sci (Weinh), 2023 Oct. PMID 37639212, Free PMC Article
  4. Ovarian tumor domain-containing protein 1 deubiquitinates and stabilizes p53. Piao S, et al. Cell Signal, 2017 May. PMID 28216291
  5. Generation of Rat Monoclonal Antibodies Against a Deubiquitinase, Ovarian Tumor Domain-Containing Protein 1. Oikawa D, et al. Monoclon Antib Immunodiagn Immunother, 2018 Aug. PMID 30130141

See all (40) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The deubiquitinase OTUD1 deubiquitinates TIPE2 and plays a protective role in sepsis-induced lung injury by targeting TAK1-mediated MAPK and NF-kappaB signaling.
    Title: The deubiquitinase OTUD1 deubiquitinates TIPE2 and plays a protective role in sepsis-induced lung injury by targeting TAK1-mediated MAPK and NF-κB signaling.
  2. The Deubiquitinase OTUD1 Suppresses Secretory Neutrophil Polarization And Ameliorates Immunopathology of Periodontitis.
    Title: The Deubiquitinase OTUD1 Suppresses Secretory Neutrophil Polarization And Ameliorates Immunopathology of Periodontitis.
  3. The deubiquitinase OTUD1 noncanonically suppresses Akt activation through its N-terminal intrinsically disordered region.
    Title: The deubiquitinase OTUD1 noncanonically suppresses Akt activation through its N-terminal intrinsically disordered region.
  4. The deubiquitinase OTUD1 regulates immunoglobulin production and proteasome inhibitor sensitivity in multiple myeloma.
    Title: The deubiquitinase OTUD1 regulates immunoglobulin production and proteasome inhibitor sensitivity in multiple myeloma.
  5. OTUD1 deubiquitinase regulates NF-kappaB- and KEAP1-mediated inflammatory responses and reactive oxygen species-associated cell death pathways.
    Title: OTUD1 deubiquitinase regulates NF-κB- and KEAP1-mediated inflammatory responses and reactive oxygen species-associated cell death pathways.
  6. Melatonin induces apoptotic cell death through Bim stabilization by Sp1-mediated OTUD1 upregulation.
    Title: Melatonin induces apoptotic cell death through Bim stabilization by Sp1-mediated OTUD1 upregulation.
  7. OTUD1 Activates Caspase-Independent and Caspase-Dependent Apoptosis by Promoting AIF Nuclear Translocation and MCL1 Degradation.
    Title: OTUD1 Activates Caspase-Independent and Caspase-Dependent Apoptosis by Promoting AIF Nuclear Translocation and MCL1 Degradation.
  8. The deubiquitinase OTUD1 enhances iron transport and potentiates host antitumor immunity.
    Title: The deubiquitinase OTUD1 enhances iron transport and potentiates host antitumor immunity.
  9. OTUD1 Negatively Regulates Type I IFN Induction by Disrupting Noncanonical Ubiquitination of IRF3.
    Title: OTUD1 Negatively Regulates Type I IFN Induction by Disrupting Noncanonical Ubiquitination of IRF3.
  10. The data demonstrate that OTUD1 is involved in maintaining immune homeostasis and loss-of-function mutations of OTUD1 enhance the immune response and are associated with autoimmunity.
    Title: Mutations of deubiquitinase OTUD1 are associated with autoimmune disorders.
Submit: New GeneRIF Correction See all GeneRIFs (15)

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

EBI GWAS Catalog

Description
Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.
EBI GWAS Catalog

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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Replication interactions

Interaction Pubs
Knockdown of OTU domain containing 1 (OTUD1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 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 
Process Evidence Code Pubs
involved_in protein K63-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 1
Names
DUBA-7
OTU domain containing 1
NP_001138845.1

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_001145373.3 → NP_001138845.1  OTU domain-containing protein 1

    See identical proteins and their annotated locations for NP_001138845.1

    Status: VALIDATED

    Source sequence(s)
    AL512603
    Consensus CDS
    CCDS44366.1
    UniProtKB/Swiss-Prot
    Q5VV17
    Related
    ENSP00000365678.3, ENST00000376495.5
    Conserved Domains (1) summary
    pfam02338
    Location:315 → 432
    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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    23439075..23442377
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    23459207..23462509
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5VV17.1 GenPept UniProtKB/Swiss-Prot:Q5VV17

Gene LinkOut

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Other Literature Sources
Chemical Information
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