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

Gene ID: 161725, updated on 5-Mar-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
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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (31475398..31870673, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (29269748..29664824, complement)
105.20220307 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 (22) 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)

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

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 IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein K11-linked deubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein K48-linked deubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein K63-linked deubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein deubiquitination involved in ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in proteolysis IEA
Inferred from Electronic Annotation
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_2023_10

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

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