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

Gene ID: 161725, updated on 12-Oct-2019

Summary

Official Symbol
OTUD7Aprovided by HGNC
Official Full Name
OTU deubiquitinase 7Aprovided by HGNC
Primary source
HGNC:HGNC:20718
See related
Ensembl:ENSG00000169918 MIM:612024
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

Genomic context

See OTUD7A in Genome Data Viewer
Location:
15q13.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (31475398..31870673, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (31773884..32162875, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107987220 Neighboring gene REX4 homolog, 3'-5' exonuclease pseudogene Neighboring gene uncharacterized LOC105370753 Neighboring gene distal CHRNA7 low-copy repeat recombination region Neighboring gene DEP domain containing 1 pseudogene 1 Neighboring gene uncharacterized LOC105370940 Neighboring gene cholinergic receptor nicotinic alpha 7 subunit Neighboring gene uncharacterized LOC105370754

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

NHGRI GWAS Catalog

Description
A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.
NHGRI GWA Catalog
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
NHGRI GWA 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.
NHGRI GWA Catalog

Pathways from BioSystems

  • Deubiquitination, organism-specific biosystem (from REACTOME)
    Deubiquitination, organism-specific biosystemUbiquitination, the modification of proteins by the covalent attachment of ubiquitin (Ub), is a key regulatory mechanism for many many cellular processes, including protein degradation by the 26S pro...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Ovarian tumor domain proteases, organism-specific biosystem (from REACTOME)
    Ovarian tumor domain proteases, organism-specific biosystemHumans have 16 Overian tumour domain (OTU) family DUBs that can be evolutionally divided into three classes, the OTUs, the Otubains (OTUBs), and the A20-like OTUs (Komander et al. 2009). OTU family ...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
K63-linked polyubiquitin modification-dependent protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thiol-dependent ubiquitin-specific protease activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thiol-dependent ubiquitin-specific protease activity IDA
Inferred from Direct Assay
more info
PubMed 
thiol-dependent ubiquitinyl hydrolase activity TAS
Traceable Author Statement
more info
 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
negative regulation of I-kappaB kinase/NF-kappaB signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein K11-linked deubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein K11-linked deubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein K48-linked deubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein K63-linked deubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein deubiquitination TAS
Traceable Author Statement
more info
 
protein deubiquitination involved in ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001329907.2NP_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_130901.3NP_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
    Q8TE49
    Related
    ENSP00000305926.4, ENST00000307050.5
    Conserved Domains (3) summary
    cd14347
    Location:2668
    UBA_Cezanne_like; UBA-like domain found in OTU domain-containing proteins OTU7A, OTU7B and similar proteins
    pfam01754
    Location:888911
    zf-A20; A20-like zinc finger
    cl19932
    Location:205368
    OTU; OTU-like cysteine protease

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

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

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_011332701.1 Reference GRCh38.p13 PATCHES

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

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_187660.1 Reference GRCh38.p13 ALT_REF_LOCI_2

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