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] See more...

Aliases for OTUD7A Gene

Aliases for OTUD7A Gene

  • OTU Deubiquitinase 7A 2 3 5
  • OTU Domain-Containing Protein 7A 3 4
  • Zinc Finger Protein Cezanne 2 3 4
  • C15orf16 3 4
  • CEZANNE2 3 4
  • OTUD7 3 4
  • Chromosome 15 Open Reading Frame 16 2
  • OTU Domain-Containing 7A 3
  • OTU Domain Containing 7A 2
  • OTU Domain Containing 7 2
  • EC 3.4.19.12 4
  • Cezanne 2 3
  • C16ORF15 3

External Ids for OTUD7A Gene

Previous HGNC Symbols for OTUD7A Gene

  • C15orf16
  • OTUD7

Previous GeneCards Identifiers for OTUD7A Gene

  • GC15M029564
  • GC15M031773
  • GC15M008953

Summaries for OTUD7A Gene

Entrez Gene Summary for OTUD7A Gene

  • 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]

GeneCards Summary for OTUD7A Gene

OTUD7A (OTU Deubiquitinase 7A) is a Protein Coding gene. Diseases associated with OTUD7A include Chromosome 15Q13.3 Deletion Syndrome. Among its related pathways are Ovarian tumor domain proteases and Deubiquitination. Gene Ontology (GO) annotations related to this gene include thiol-dependent ubiquitin-specific protease activity. An important paralog of this gene is OTUD7B.

UniProtKB/Swiss-Prot Summary for OTUD7A Gene

  • Has deubiquitinating activity towards 'Lys-11'-linked polyubiquitin chains.

Additional gene information for OTUD7A Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OTUD7A Gene

Genomics for OTUD7A Gene

GeneHancer (GH) Regulatory Elements for OTUD7A Gene

Promoters and enhancers for OTUD7A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J031869 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 756 +0.4 388 2.4 ZNF785 POLR2A ZNF148 SP7 ZNF639 CEBPG SP5 GMEB1 GLIS2 CEBPA OTUD7A lnc-CHRNA7-4 lnc-GOLGA8H-2-002
GH15J031456 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 8.2 +412.3 412288 3.8 SP1 RELA MAFK ZNF687 CREM ZBED1 IKZF1 BACH1 IKZF2 CBFB ENSG00000270055 CHRNA7 OTUD7A piR-43105-190 piR-32214-198
GH15J031487 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 8.3 +381.8 381766 2.6 CTCF FOXA1 RAD21 SP1 ZBTB33 MLLT1 EGR1 IKZF1 RXRA REST OTUD7A CHRNA7 MTMR10 KLF13 RF00017-1736 lnc-TRPM1-4
GH15J031471 Enhancer 0.8 ENCODE dbSUPER 7.6 +398.2 398156 3.2 POLR2A MLLT1 ZNF687 IKZF1 ZIC2 IKZF2 ELF1 RUNX3 FOS BMI1 OTUD7A HSALNG0104825 lnc-TRPM1-4
GH15J031464 Enhancer 0.7 FANTOM5 ENCODE dbSUPER 8 +405.4 405411 1.7 MNT ZBTB33 HSALNG0104825 OTUD7A CHRNA7 lnc-TRPM1-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OTUD7A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the OTUD7A gene promoter:
  • C/EBPalpha
  • CUTL1
  • ER-alpha
  • HOXA3
  • Meis-1
  • Meis-1a
  • Meis-1b
  • Nkx6-1
  • POU2F1
  • POU2F1a

Genomic Locations for OTUD7A Gene

Genomic Locations for OTUD7A Gene
chr15:31,475,398-31,870,789
(GRCh38/hg38)
Size:
395,392 bases
Orientation:
Minus strand
chr15:31,775,329-32,162,992
(GRCh37/hg19)
Size:
387,664 bases
Orientation:
Minus strand

Genomic View for OTUD7A Gene

Genes around OTUD7A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OTUD7A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OTUD7A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OTUD7A Gene

Proteins for OTUD7A Gene

  • Protein details for OTUD7A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TE49-OTU7A_HUMAN
    Recommended name:
    OTU domain-containing protein 7A
    Protein Accession:
    Q8TE49
    Secondary Accessions:
    • Q8IWK5

    Protein attributes for OTUD7A Gene

    Size:
    926 amino acids
    Molecular mass:
    100677 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for OTUD7A Gene

    Alternative splice isoforms for OTUD7A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for OTUD7A Gene

Post-translational modifications for OTUD7A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for OTUD7A Gene

No data available for DME Specific Peptides for OTUD7A Gene

Domains & Families for OTUD7A Gene

Gene Families for OTUD7A Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for OTUD7A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for OTUD7A Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger protein Cezanne 2 (OTU7A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TE49

UniProtKB/Swiss-Prot:

OTU7A_HUMAN :
  • Belongs to the peptidase C64 family.
Family:
  • Belongs to the peptidase C64 family.
genes like me logo Genes that share domains with OTUD7A: view

Function for OTUD7A Gene

Molecular function for OTUD7A Gene

UniProtKB/Swiss-Prot Function:
Has deubiquitinating activity towards 'Lys-11'-linked polyubiquitin chains.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).; EC=3.4.19.12; Evidence=. ;.

Enzyme Numbers (IUBMB) for OTUD7A Gene

Phenotypes From GWAS Catalog for OTUD7A Gene

Gene Ontology (GO) - Molecular Function for OTUD7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0004843 thiol-dependent ubiquitin-specific protease activity IDA,IBA 23827681
GO:0005515 protein binding IEA --
GO:0008233 peptidase activity IEA --
GO:0008234 cysteine-type peptidase activity IEA --
genes like me logo Genes that share ontologies with OTUD7A: view
genes like me logo Genes that share phenotypes with OTUD7A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OTUD7A

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for OTUD7A Gene

Localization for OTUD7A Gene

Subcellular locations from UniProtKB/Swiss-Prot for OTUD7A Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OTUD7A gene
Compartment Confidence
cytosol 5
nucleus 4

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for OTUD7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with OTUD7A: view

Pathways & Interactions for OTUD7A Gene

genes like me logo Genes that share pathways with OTUD7A: view

Pathways by source for OTUD7A Gene

Gene Ontology (GO) - Biological Process for OTUD7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0016579 protein deubiquitination TAS --
GO:0035871 protein K11-linked deubiquitination IDA,IEA 23827681
GO:0043124 negative regulation of I-kappaB kinase/NF-kappaB signaling IBA 21873635
GO:0070536 protein K63-linked deubiquitination IBA 21873635
genes like me logo Genes that share ontologies with OTUD7A: view

No data available for SIGNOR curated interactions for OTUD7A Gene

Drugs & Compounds for OTUD7A Gene

No Compound Related Data Available

Transcripts for OTUD7A Gene

mRNA/cDNA for OTUD7A Gene

(2) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OTUD7A

Alternative Splicing Database (ASD) splice patterns (SP) for OTUD7A Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: - - -
SP2: - - -
SP3: -

Relevant External Links for OTUD7A Gene

GeneLoc Exon Structure for
OTUD7A
ECgene alternative splicing isoforms for
OTUD7A

Expression for OTUD7A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for OTUD7A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for OTUD7A Gene

This gene is overexpressed in Pancreatic juice (33.9) and Testis (32.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for OTUD7A Gene



Protein tissue co-expression partners for OTUD7A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of OTUD7A Gene:

OTUD7A

SOURCE GeneReport for Unigene cluster for OTUD7A Gene:

Hs.355236

Evidence on tissue expression from TISSUES for OTUD7A Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with OTUD7A: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for OTUD7A Gene

Orthologs for OTUD7A Gene

This gene was present in the common ancestor of animals.

Orthologs for OTUD7A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OTUD7A 33
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia OTUD7A 33 32
  • 92.64 (n)
OneToOne
cow
(Bos Taurus)
Mammalia OTUD7A 33 32
  • 89.38 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Otud7a 17 33 32
  • 88.37 (n)
rat
(Rattus norvegicus)
Mammalia Otud7a 32
  • 87.92 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia OTUD7A 33
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia OTUD7A 33
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves OTUD7A 33 32
  • 71.77 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OTUD7A 33
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia otud7a 32
  • 69.03 (n)
Str.20400 32
zebrafish
(Danio rerio)
Actinopterygii LOC559455 32
  • 71.64 (n)
OTUD7A 33
  • 71 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea otub-2 33
  • 32 (a)
OneToMany
Species where no ortholog for OTUD7A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for OTUD7A Gene

ENSEMBL:
Gene Tree for OTUD7A (if available)
TreeFam:
Gene Tree for OTUD7A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OTUD7A: view image

Paralogs for OTUD7A Gene

Paralogs for OTUD7A Gene

(2) SIMAP similar genes for OTUD7A Gene using alignment to 3 proteins:

  • OTU7A_HUMAN
  • H0YMI7_HUMAN
  • H0YN66_HUMAN

Pseudogenes.org Pseudogenes for OTUD7A Gene

genes like me logo Genes that share paralogs with OTUD7A: view

Variants for OTUD7A Gene

Sequence variations from dbSNP and Humsavar for OTUD7A Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000027825 -- 31,809,654(-) C/T intron_variant
rs1000030178 -- 31,815,583(-) G/A intron_variant
rs1000030610 -- 31,855,998(-) C/G intron_variant
rs1000034990 -- 31,843,199(-) C/T intron_variant
rs1000035468 -- 31,760,227(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for OTUD7A Gene

Variant ID Type Subtype PubMed ID
dgv109e55 CNV gain 17911159
dgv1185n106 CNV deletion 24896259
dgv11e196 CNV duplication 17116639
dgv2535n100 CNV gain 25217958
dgv432n67 CNV gain 20364138
dgv4435n54 CNV loss 21841781
dgv4436n54 CNV gain+loss 21841781
dgv4437n54 CNV gain+loss 21841781
dgv4438n54 CNV gain 21841781
dgv4439n54 CNV loss 21841781
dgv446e214 CNV gain 21293372
esv1355532 CNV deletion 17803354
esv1513730 CNV deletion 17803354
esv2184065 CNV deletion 18987734
esv2565352 CNV deletion 19546169
esv2665812 CNV deletion 23128226
esv2760023 CNV gain+loss 17122850
esv28045 CNV gain+loss 19812545
esv29485 CNV loss 19812545
esv34100 CNV loss 18971310
nsv1071200 CNV deletion 25765185
nsv1142861 CNV tandem duplication 24896259
nsv428302 CNV gain+loss 18775914
nsv469569 CNV loss 16826518
nsv469633 CNV loss 16826518
nsv476868 CNV novel sequence insertion 20440878
nsv568813 CNV loss 21841781
nsv568822 CNV loss 21841781
nsv568823 CNV loss 21841781
nsv568824 CNV loss 21841781
nsv568825 CNV gain 21841781
nsv817679 CNV loss 17921354
nsv9235 CNV gain 18304495
nsv9237 CNV gain+loss 18304495
nsv958020 CNV deletion 24416366
nsv976915 CNV duplication 23825009

Variation tolerance for OTUD7A Gene

Residual Variation Intolerance Score: 27.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.19; 52.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OTUD7A Gene

Human Gene Mutation Database (HGMD)
OTUD7A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
OTUD7A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OTUD7A Gene

Disorders for OTUD7A Gene

MalaCards: The human disease database

(1) MalaCards diseases for OTUD7A Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
chromosome 15q13.3 deletion syndrome
  • chromosome 15q13.3 microdeletion syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for OTUD7A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with OTUD7A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for OTUD7A Gene

Publications for OTUD7A Gene

  1. OTU deubiquitinases reveal mechanisms of linkage specificity and enable ubiquitin chain restriction analysis. (PMID: 23827681) Mevissen TE … Komander D (Cell 2013) 2 3 4 56
  2. 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. (PMID: 20400778) Morrison AC … Smith NL (Circulation. Cardiovascular genetics 2010) 3 43 56
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
  4. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3 56
  5. Discovery and Characterization of ZUFSP/ZUP1, a Distinct Deubiquitinase Class Important for Genome Stability. (PMID: 29576527) Kwasna D … Kulathu Y (Molecular cell 2018) 3 56

Products for OTUD7A Gene

Sources for OTUD7A Gene