Human Gene OTUD7A (uc001zfq.3) Description and Page Index
Description: Homo sapiens OTU domain containing 7A (OTUD7A), mRNA. RefSeq Summary (NM_130901): 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]. Transcript (Including UTRs) Position: hg19 chr15:31,775,329-31,947,542 Size: 172,214 Total Exon Count: 11 Strand: - Coding Region Position: hg19 chr15:31,775,497-31,947,449 Size: 171,953 Coding Exon Count: 11
ID:OTU7A_HUMAN DESCRIPTION: RecName: Full=OTU domain-containing protein 7A; EC=184.108.40.206; AltName: Full=Zinc finger protein Cezanne 2; FUNCTION: Has deubiquitinating activity that is directed towards 'Lys-48' or 'Lys-63'-linked polyubiquitin chains. Hydrolyzes both linear and branched forms of polyubiquitin (By similarity). CATALYTIC ACTIVITY: 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). SUBCELLULAR LOCATION: Cytoplasm (By similarity). Nucleus (By similarity). SIMILARITY: Belongs to the peptidase C64 family. SIMILARITY: Contains 1 A20-type zinc finger. SIMILARITY: Contains 1 OTU domain.
Genetic Association Studies of Complex Diseases and Disorders
Cholesterol, LDL Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics.
Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
Echocardiography Ramachandran S Vasan et al. BMC medical genetics 2007, Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study., BMC medical genetics.
In hypothesis-generating GWAS of echocardiography, ETT and BA vascular function in a moderate-sized community-based sample, we identified several SNPs that are candidates for replication attempts and we provide a web-based GWAS resource for the research community.
Mortality Alanna C Morrison et al. Circulation. Cardiovascular genetics 2010, 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., Circulation. Cardiovascular genetics.
This study identified a novel locus associated with all-cause mortality among individuals of European ancestry with HF. This finding warrants additional investigation, including replication, in other studies of HF.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8TE49
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006508 proteolysis GO:0006955 immune response GO:0016579 protein deubiquitination GO:0035871 protein K11-linked deubiquitination GO:0043124 negative regulation of I-kappaB kinase/NF-kappaB signaling GO:0045088 regulation of innate immune response GO:0050727 regulation of inflammatory response GO:0070536 protein K63-linked deubiquitination GO:0071108 protein K48-linked deubiquitination GO:0071947 protein deubiquitination involved in ubiquitin-dependent protein catabolic process