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OTUD4 OTU deubiquitinase 4 [ Homo sapiens (human) ]

Gene ID: 54726, updated on 16-Apr-2024

Summary

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Official Symbol
OTUD4provided by HGNC
Official Full Name
OTU deubiquitinase 4provided by HGNC
Primary source
HGNC:HGNC:24949
See related
Ensembl:ENSG00000164164 MIM:611744; AllianceGenome:HGNC:24949
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
HIN1; DUBA6; HSHIN1
Summary
Alternatively spliced transcript variants have been found for this gene. The smaller protein isoform encoded by the shorter transcript variant is found only in HIV-1 infected cells. [provided by RefSeq, Jul 2010]
Expression
Ubiquitous expression in testis (RPKM 19.7), bone marrow (RPKM 11.0) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
4q31.21
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (145133650..145180589, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (148451040..148497987, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (146054802..146101741, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene anaphase promoting complex subunit 10 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15722 Neighboring gene RN7SK pseudogene 235 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:146018722-146019921 Neighboring gene ATP binding cassette subfamily E member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21962 Neighboring gene MPRA-validated peak5130 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21963 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:146100843-146101672 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:146101673-146102502 Neighboring gene uncharacterized LOC124900794 Neighboring gene uncharacterized LOC105377465

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. Brain DNA methylomic analysis of frontotemporal lobar degeneration reveals OTUD4 in shared dysregulated signatures across pathological subtypes. Fodder K, et al. Acta Neuropathol, 2023 Jul. PMID 37149835, Free PMC Article
  2. OTUD4 enhances TGFβ signalling through regulation of the TGFβ receptor complex. Jaynes PW, et al. Sci Rep, 2020 Sep 24. PMID 32973272, Free PMC Article
  3. HIV-1 promotor insertion revealed by selective detection of chimeric provirus-host gene transcripts. Raineri I, et al. Nucleic Acids Res, 1992 Dec 11. PMID 1475186, Free PMC Article
  4. UBL7 enhances antiviral innate immunity by promoting Lys27-linked polyubiquitination of MAVS. Jiang W, et al. Cell Rep, 2023 Mar 28. PMID 36943869
  5. OTUD4 Is a Phospho-Activated K63 Deubiquitinase that Regulates MyD88-Dependent Signaling. Zhao Y, et al. Mol Cell, 2018 Feb 1. PMID 29395066, Free PMC Article

See all (93) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. NRF2 regulates EGF stability through OTUD4 in lung adenocarcinoma.
    Title: NRF2 regulates EGF stability through OTUD4 in lung adenocarcinoma.
  2. OTUD4 promotes the progression of glioblastoma by deubiquitinating CDK1 and activating MAPK signaling pathway.
    Title: OTUD4 promotes the progression of glioblastoma by deubiquitinating CDK1 and activating MAPK signaling pathway.
  3. Deubiquitinating enzyme OTUD4 regulates metastasis in triple-negative breast cancer by stabilizing Snail1.
    Title: Deubiquitinating enzyme OTUD4 regulates metastasis in triple-negative breast cancer by stabilizing Snail1.
  4. OTUD4 regulates metastasis and chemoresistance in melanoma by stabilizing Snail1.
    Title: OTUD4 regulates metastasis and chemoresistance in melanoma by stabilizing Snail1.
  5. Brain DNA methylomic analysis of frontotemporal lobar degeneration reveals OTUD4 in shared dysregulated signatures across pathological subtypes.
    Title: Brain DNA methylomic analysis of frontotemporal lobar degeneration reveals OTUD4 in shared dysregulated signatures across pathological subtypes.
  6. OTUD4 enhances TGFbeta signalling through regulation of the TGFbeta receptor complex.
    Title: OTUD4 enhances TGFβ signalling through regulation of the TGFβ receptor complex.
  7. Knockdown of OTUD4 in HeLa cells resulted in defects in stress granule formation and led to apoptotic cell death
    Title: New roles for the de-ubiquitylating enzyme OTUD4 in an RNA-protein network and RNA granules.
  8. Authors demonstrate that the deubiquitinase OTUD4, which nominally encodes a K48-specific deubiquitinase, is phosphorylated near its catalytic domain, activating a latent K63-specific deubiquitinase. Besides phosphorylation, this latter activity requires an adjacent ubiquitin-interacting motif, which increases the affinity of OTUD4 for K63-linked chains.
    Title: OTUD4 Is a Phospho-Activated K63 Deubiquitinase that Regulates MyD88-Dependent Signaling.
  9. There is an evolutionary loss of activity in de-ubiquitylating enzymes of the OTU family, OTUD4, otu, and CG3251.
    Title: Evolutionary Loss of Activity in De-Ubiquitylating Enzymes of the OTU Family.
  10. OTUD4 is a positive regulator of ALKBH2 and ALKBH3, two DNA demethylases critical for alkylation repair.
    Title: Noncanonical regulation of alkylation damage resistance by the OTUD4 deubiquitinase.
Submit: New GeneRIF Correction See all GeneRIFs (11)

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

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA1046, DKFZp434I0721

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 RNA binding HDA 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 molecular adaptor 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 DNA alkylation repair IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in innate immune response IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of interleukin-1-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of interleukin-1-mediated signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of toll-like receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of toll-like receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein K48-linked deubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein K63-linked deubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein deubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in proteolysis IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of protein K48-linked deubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of protein K48-linked deubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IC
Inferred by Curator
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
OTU domain-containing protein 4
Names
HIV-1 induced protein HIN-1
NP_001096123.1
NP_001352986.1
NP_001352987.1
NP_059963.1
XP_011530342.2
XP_011530343.2
XP_011530344.1
XP_047271794.1
XP_054206243.1
XP_054206244.1
XP_054206245.1
XP_054206246.1

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.

Genomic

  1. NG_047157.1 RefSeqGene

    Range
    4385..51324
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001102653.1 → NP_001096123.1  OTU domain-containing protein 4 isoform 3

    See identical proteins and their annotated locations for NP_001096123.1

    Status: REVIEWED

    Source sequence(s)
    AC096757, BC118572, DB446926
    Consensus CDS
    CCDS47139.1
    UniProtKB/Swiss-Prot
    Q01804
    Related
    ENSP00000409279.2, ENST00000454497.6
    Conserved Domains (1) summary
    cl19932
    Location:3 → 56
    OTU; OTU-like cysteine protease

  2. NM_001366057.1 → NP_001352986.1  OTU domain-containing protein 4 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC096757
    Consensus CDS
    CCDS93644.1
    UniProtKB/Swiss-Prot
    B4DYS4, Q01804, Q147U2, Q1ZYK1, Q6PG39, Q96MQ5, Q9NT94, Q9UPV6
    Related
    ENSP00000395487.2, ENST00000447906.8
    Conserved Domains (2) summary
    cl19932
    Location:42 → 121
    OTU; OTU-like cysteine protease
    cl26464
    Location:543 → 886
    Atrophin-1; Atrophin-1 family

  3. NM_001366058.1 → NP_001352987.1  OTU domain-containing protein 4 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC096757
    Conserved Domains (1) summary
    cl19932
    Location:42 → 121
    OTU; OTU-like cysteine protease

  4. NM_017493.7 → NP_059963.1  OTU domain-containing protein 4 isoform 2

    See identical proteins and their annotated locations for NP_059963.1

    Status: REVIEWED

    Source sequence(s)
    AC096757, X68242
    Consensus CDS
    CCDS3764.1
    UniProtKB/TrEMBL
    D6RA27
    Related
    ENSP00000424192.2, ENST00000509620.6
    Conserved Domains (1) summary
    cl19932
    Location:3 → 56
    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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    145133650..145180589 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047415838.1 → XP_047271794.1  OTU domain-containing protein 4 isoform X3

  2. XM_011532041.3 → XP_011530343.2  OTU domain-containing protein 4 isoform X2

  3. XM_011532040.3 → XP_011530342.2  OTU domain-containing protein 4 isoform X1

  4. XM_011532042.4 → XP_011530344.1  OTU domain-containing protein 4 isoform X4

    See identical proteins and their annotated locations for XP_011530344.1

    Conserved Domains (1) summary
    cl19932
    Location:3 → 63
    OTU; OTU-like cysteine protease

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    148451040..148497987 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054350270.1 → XP_054206245.1  OTU domain-containing protein 4 isoform X3

  2. XM_054350269.1 → XP_054206244.1  OTU domain-containing protein 4 isoform X2

  3. XM_054350268.1 → XP_054206243.1  OTU domain-containing protein 4 isoform X1

  4. XM_054350271.1 → XP_054206246.1  OTU domain-containing protein 4 isoform X4

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_199324.2: Suppressed sequence

    Description
    NM_199324.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q01804.4 GenPept UniProtKB/Swiss-Prot:Q01804

Gene LinkOut

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