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 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:31,775,329-31,947,542)mRNA (may differ from genome)Protein (926 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMGIneXtProt
OMIMPubMedReactomeStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
  ID: OTU7A_HUMAN
DESCRIPTION: RecName: Full=OTU domain-containing protein 7A; EC=3.4.19.12; 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
  Genetic Association Database (archive): OTUD7A
CDC HuGE Published Literature: OTUD7A
Positive Disease Associations: Cholesterol, LDL , Echocardiography , Mortality
Related Studies:
  1. 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. [PubMed 17903299]
    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.
  2. 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. [PubMed 17903301]
    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.
  3. 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. [PubMed 20400778]
    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.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: OTUD7A
Diseases sorted by gene-association score: chromosome 15q13.3 microdeletion syndrome (3), congenital stationary night blindness (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2.82 RPKM in Testis
Total median expression: 27.07 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -14.8093-0.159 Picture PostScript Text
3' UTR -58.64168-0.349 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003323 - OTU
IPR009060 - UBA-like
IPR002653 - Znf_A20

Pfam Domains:
PF01754 - A20-like zinc finger
PF02338 - OTU-like cysteine protease

SCOP Domains:
46934 - UBA-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help

2L2D
- NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q8TE49
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0004843 thiol-dependent ubiquitin-specific protease activity
GO:0008233 peptidase activity
GO:0008234 cysteine-type peptidase activity
GO:0008270 zinc ion binding
GO:0016787 hydrolase activity
GO:0036459 thiol-dependent ubiquitinyl hydrolase activity
GO:0046872 metal ion binding
GO:0070530 K63-linked polyubiquitin binding

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

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AJ430383 - Homo sapiens mRNA for Cezanne 2 protein.
BC172582 - Synthetic construct Homo sapiens clone IMAGE:100069276, MGC:199287 OTU domain containing 7A (OTUD7A) mRNA, encodes complete protein.
KJ534968 - Homo sapiens clone OTUD7A_iso-A_adult-A05 OTU domain-containing 7A isoform A (OTUD7A) mRNA, partial cds, alternatively spliced.
BC035668 - Homo sapiens OTU domain containing 7A, mRNA (cDNA clone IMAGE:5729413), partial cds.
AK126002 - Homo sapiens cDNA FLJ44014 fis, clone TESTI4024907.
AK308630 - Homo sapiens cDNA, FLJ98671.
JD486861 - Sequence 467885 from Patent EP1572962.
JD354248 - Sequence 335272 from Patent EP1572962.
JD195830 - Sequence 176854 from Patent EP1572962.
JD461823 - Sequence 442847 from Patent EP1572962.
JD271289 - Sequence 252313 from Patent EP1572962.
JD458507 - Sequence 439531 from Patent EP1572962.
JD458512 - Sequence 439536 from Patent EP1572962.
JD458511 - Sequence 439535 from Patent EP1572962.
JD056228 - Sequence 37252 from Patent EP1572962.
JD458513 - Sequence 439537 from Patent EP1572962.
JD458514 - Sequence 439538 from Patent EP1572962.
JD271292 - Sequence 252316 from Patent EP1572962.
JD056235 - Sequence 37259 from Patent EP1572962.
CR749403 - Homo sapiens mRNA; cDNA DKFZp686P1247 (from clone DKFZp686P1247).
JD247832 - Sequence 228856 from Patent EP1572962.
JD492364 - Sequence 473388 from Patent EP1572962.
JD269074 - Sequence 250098 from Patent EP1572962.
JD488232 - Sequence 469256 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8TE49 (Reactome details) participates in the following event(s):

R-HSA-8865182 OTUD7A hydrolyses K11diUb
R-HSA-5689896 Ovarian tumor domain proteases
R-HSA-5688426 Deubiquitination
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: C15orf16, CEZANNE2, NM_130901, NP_570971, OTU7A_HUMAN, OTUD7, Q8IWK5, Q8TE49
UCSC ID: uc001zfq.3
RefSeq Accession: NM_130901
Protein: Q8TE49 (aka OTU7A_HUMAN)
CCDS: CCDS10026.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_130901.1
exon count: 11CDS single in 3' UTR: no RNA size: 3042
ORF size: 2781CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 5347.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 89# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.