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    OTUD7A OTU deubiquitinase 7A [ Homo sapiens (human) ]

    Gene ID: 161725, updated on 27-Nov-2024

    Summary

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    Official Symbol
    OTUD7Aprovided by HGNC
    Official Full Name
    OTU deubiquitinase 7Aprovided by HGNC
    Primary source
    HGNC:HGNC:20718
    See related
    Ensembl:ENSG00000169918 MIM:612024; AllianceGenome:HGNC:20718
    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
    NEDHS; OTUD7; C15orf16; C16ORF15; CEZANNE2
    Summary
    The protein encoded by this gene is a deubiquitinizing enzyme and possible tumor suppressor. The encoded protein acts on TNF receptor associated factor 6 (TRAF6) to control nuclear factor kappa B expression. However, this gene is downregulated by SNAIL1 in hepatocellular carcinoma cells, contributing to their progression and malignancy. [provided by RefSeq, Aug 2016]
    Expression
    Broad expression in brain (RPKM 2.7), testis (RPKM 2.0) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See OTUD7A in Genome Data Viewer
    Location:
    15q13.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (31475398..31870673, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (29269748..29664824, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (31767601..32162876, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene KLF transcription factor 13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:31727051-31727570 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:31732825-31733325 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:31756624-31757124 Neighboring gene ubiquitin conjugating enzyme E2 C pseudogene 4 Neighboring gene REX4 homolog, 3'-5' exonuclease pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:31782018-31782667 Neighboring gene uncharacterized LOC105370753 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:31820681-31821180 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:31830279-31830817 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:31846511-31847094 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:31897378-31898128 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:31901686-31902240 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:31901130-31901685 Neighboring gene distal CHRNA7 low-copy repeat recombination region Neighboring gene uncharacterized LOC124903455 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:32091007-32091506 Neighboring gene DEP domain containing 1 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 11410 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6268 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:32197193-32197694 Neighboring gene small nucleolar RNA SNORA18 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:32267901-32268583 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:32269149-32269715 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:32269716-32270281 Neighboring gene uncharacterized LOC124903441 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:32322777-32323342 Neighboring gene cholinergic receptor nicotinic alpha 7 subunit

    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. Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction. Garret P, et al. Clin Genet, 2020 Apr. PMID 31997314
    2. Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures. Suzuki H, et al. Am J Med Genet A, 2021 Apr. PMID 33381903
    3. OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome. Uddin M, et al. Am J Hum Genet, 2018 Feb 1. PMID 29395074, Free PMC Article
    4. CircRNA_OTUD7A upregulates FOXP1 expression to facilitate the progression of diffuse large B-cell lymphoma via acting as a sponge of miR-431-5p. Liu W, et al. Genes Genomics, 2021 Jun. PMID 33830472
    5. Snail1-dependent transcriptional repression of Cezanne2 in hepatocellular carcinoma. Xu Z, et al. Oncogene, 2014 May 29. PMID 23792447

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CircRNA_OTUD7A upregulates FOXP1 expression to facilitate the progression of diffuse large B-cell lymphoma via acting as a sponge of miR-431-5p.
      Title: CircRNA_OTUD7A upregulates FOXP1 expression to facilitate the progression of diffuse large B-cell lymphoma via acting as a sponge of miR-431-5p.
    2. SPOP and OTUD7A Control EWS-FLI1 Protein Stability to Govern Ewing Sarcoma Growth.
      Title: SPOP and OTUD7A Control EWS-FLI1 Protein Stability to Govern Ewing Sarcoma Growth.
    3. Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures.
      Title: Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures.
    4. Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.
      Title: Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.
    5. OTUD7A is a major regulatory gene for 15q13.3 microdeletion syndrome phenotypes.
      Title: OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome.
    6. Snail1-mediated suppression of Cezanne2 may have a key role in HCC malignancy.
      Title: Snail1-dependent transcriptional repression of Cezanne2 in hepatocellular carcinoma.
    7. Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genomic variation associated with mortality among adults of European and African ancestry with heart failure: the cohorts for heart and aging research in genomic epidemiology consortium.
    Submit: New GeneRIF Correction

    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

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2018-04-27)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2018-04-27)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.
    EBI GWAS Catalog
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    EBI GWAS Catalog
    Genomic variation associated with mortality among adults of European and African ancestry with heart failure: the cohorts for heart and aging research in genomic epidemiology consortium.
    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)

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables K63-linked polyubiquitin modification-dependent protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 cysteine-type deubiquitinase activity TAS
    Traceable Author Statement
    more info
    		  
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein K11-linked deubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein deubiquitination TAS
    Traceable Author Statement
    more info
    		  
    involved_in protein deubiquitination involved in ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    OTU domain-containing protein 7A
    Names
    OTU domain-containing 7A
    cezanne 2
    zinc finger protein Cezanne 2
    NP_001316836.1
    NP_001369566.1
    NP_570971.1

    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_001329907.2 → NP_001316836.1  OTU domain-containing protein 7A isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compazred to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC021316, AC026951, AC079969, AC104266, AC104759

    2. NM_001382637.1 → NP_001369566.1  OTU domain-containing protein 7A isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC021316, AC079969, AC104266, AC104759
      Consensus CDS
      CCDS91972.1
      Related
      ENSP00000305926.5, ENST00000307050.6

    3. NM_130901.3 → NP_570971.1  OTU domain-containing protein 7A isoform 1

      See identical proteins and their annotated locations for NP_570971.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC026951, AC079969, AC104759, AJ430383, HY011402
      Consensus CDS
      CCDS10026.1
      UniProtKB/Swiss-Prot
      Q8IWK5, Q8TE49
      Related
      ENSP00000453883.2, ENST00000560598.2
      Conserved Domains (3) summary
      cd14347
      Location:26 → 68
      UBA_Cezanne_like; UBA-like domain found in OTU domain-containing proteins OTU7A, OTU7B and similar proteins
      pfam01754
      Location:888 → 911
      zf-A20; A20-like zinc finger
      cl19932
      Location:205 → 368
      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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      31475398..31870673 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_011332701.1 Reference GRCh38.p14 PATCHES

      Range
      3648775..4043360 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_187660.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      3761227..4155812 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      29269748..29664824 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TE49.1 GenPept UniProtKB/Swiss-Prot:Q8TE49

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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