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Aliases for OTUD7A Gene

Aliases for OTUD7A Gene

  • OTU Deubiquitinase 7A 2 3 5
  • 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 Protein 7A 3
  • OTU Domain Containing 7A 2
  • OTU Domain-Containing 7A 3
  • 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 Microdeletion Syndrome and Congenital Stationary Night Blindness. Among its related pathways are Ovarian tumor domain proteases and Metabolism of proteins. GO annotations related to this gene include thiol-dependent ubiquitin-specific protease activity. An important paralog of this gene is OTUD7B.

UniProtKB/Swiss-Prot for OTUD7A Gene

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

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OTUD7A Gene

Genomics for OTUD7A Gene

Regulatory Elements for OTUD7A Gene

Enhancers for OTUD7A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15F031487 1.2 FANTOM5 Ensembl ENCODE 8.3 +381.7 381721 2.7 PKNOX1 TBL1XR1 RAD21 RFX5 YY1 EGR1 ZNF143 FOS DEK ZNF654 OTUD7A CHRNA7 MTMR10 KLF13 GC15M031476 LOC105370753
GH15F031456 1.6 FANTOM5 Ensembl ENCODE 8.1 +412.5 412538 3.1 HDGF TBL1XR1 ZBTB40 RELA EGR1 EED ZNF143 CREM CHD2 MTA2 ENSG00000270055 CHRNA7 OTUD7A LOC400347 GC15M031476
GH15F031464 1 FANTOM5 ENCODE 8 +405.4 405411 1.7 SOX5 NFIA ZBTB33 MNT PRDM10 ZIC2 SP7 OTUD7A CHRNA7 GC15M031476 LOC400347
GH15F031471 1.2 Ensembl ENCODE 7.6 +398.1 398083 3.4 CTCF MXI1 WRNIP1 BMI1 NR2F2 SMARCA4 POLR2A IKZF1 NBN MLLT1 OTUD7A GC15M031476 LOC400347
GH15F031048 1 Ensembl ENCODE 5.1 +820.4 820389 3.6 CTCF IRF2 RFX1 PKNOX1 ELF1 NR2F2 POLR2A GLIS1 ETV6 IRF1 MTMR10 OTUD7A ENSG00000270055 ENSG00000261628 GC15M031066 MIR211 LOC105370752
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around OTUD7A on UCSC Golden Path with GeneCards custom track

Promoters for OTUD7A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001793463 188 1999 KLF17 SIN3A FEZF1 GLI4 GLIS2 ELK1 EGR1 CREM ZNF263 SP5

Genomic Location for OTUD7A Gene

Chromosome:
15
Start:
31,475,398 bp from pter
End:
31,870,789 bp from pter
Size:
395,392 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

Protein Domains for OTUD7A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for OTUD7A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TE49

UniProtKB/Swiss-Prot:

OTU7A_HUMAN :
  • Contains 1 OTU domain.
  • Belongs to the peptidase C64 family.
  • Contains 1 A20-type zinc finger.
Domain:
  • Contains 1 OTU domain.
Family:
  • Belongs to the peptidase C64 family.
Similarity:
  • Contains 1 A20-type zinc finger.
genes like me logo Genes that share domains with OTUD7A: view

Function for OTUD7A Gene

Molecular function for OTUD7A Gene

UniProtKB/Swiss-Prot CatalyticActivity:
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).
UniProtKB/Swiss-Prot Function:
Has deubiquitinating activity towards Lys-11-linked polyubiquitin chains.

Enzyme Numbers (IUBMB) 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 23827681
GO:0008233 peptidase activity IEA --
GO:0008234 cysteine-type peptidase activity IEA --
GO:0008270 zinc ion binding 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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
Jensen Localization Image for OTUD7A Gene COMPARTMENTS Subcellular localization image for OTUD7A gene
Compartment Confidence
nucleus 5
cytosol 4

Gene Ontology (GO) - Cellular Components for OTUD7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IBA --
GO:0005737 cytoplasm IEA,IBA --
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:0006955 immune response IBA --
GO:0035871 protein K11-linked deubiquitination IEA,IDA 23827681
GO:0043124 negative regulation of I-kappaB kinase/NF-kappaB signaling IBA --
GO:0045088 regulation of innate immune response IBA --
genes like me logo Genes that share ontologies with OTUD7A: view

No data available for SIGNOR curated interactions for OTUD7A Gene

Transcripts for OTUD7A Gene

mRNA/cDNA for OTUD7A Gene

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

Unigene Clusters for OTUD7A Gene

OTU domain containing 7A:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 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
genes like me logo Genes that share expression patterns with OTUD7A: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia OTUD7A 34 35
  • 92.64 (n)
cow
(Bos Taurus)
Mammalia OTUD7A 34 35
  • 89.38 (n)
mouse
(Mus musculus)
Mammalia Otud7a 34 16 35
  • 88.37 (n)
rat
(Rattus norvegicus)
Mammalia Otud7a 34
  • 87.92 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia OTUD7A 35
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia OTUD7A 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves OTUD7A 34 35
  • 71.77 (n)
lizard
(Anolis carolinensis)
Reptilia OTUD7A 35
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia otud7a 34
  • 69.03 (n)
Str.20400 34
zebrafish
(Danio rerio)
Actinopterygii LOC559455 34
  • 71.64 (n)
OTUD7A 35
  • 71 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea otub-2 35
  • 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)

Paralogs for OTUD7A Gene

Paralogs for OTUD7A Gene

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

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 Sequence Context AA Info Type
rs10083590 -- 31,486,935(+) ACATG(C/T)CTACA intron-variant
rs10152122 -- 31,844,643(+) CTCCC(A/G)GAACT intron-variant
rs10152334 -- 31,845,986(+) CCAGG(A/G)ACTCA intron-variant
rs10152378 -- 31,767,140(+) AAGCA(C/G)ACTGA intron-variant
rs10152502 -- 31,864,047(+) ctctt(C/T)gctaa 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)

Relevant External Links for OTUD7A Gene

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

(2) MalaCards diseases for OTUD7A Gene - From: DISEASES

Disorder Aliases PubMed IDs
chromosome 15q13.3 microdeletion syndrome
  • chromosome 15q13.3 deletion syndrome
congenital stationary night blindness
  • congenital essential nyctalopia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for OTUD7A

Genetic Association Database (GAD)
OTUD7A
Human Genome Epidemiology (HuGE) Navigator
OTUD7A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
OTUD7A
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 T.E. … Komander D. (Cell 2013) 2 3 4 64
  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 A.C. … Smith N.L. (Circ Cardiovasc Genet 2010) 3 46 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. (PMID: 24722188) Corominas R. … Iakoucheva L.M. (Nat. Commun. 2014) 3 64
  5. Snail1-dependent transcriptional repression of Cezanne2 in hepatocellular carcinoma. (PMID: 23792447) Xu Z. … Gui Y. (Oncogene 2014) 3 64

Products for OTUD7A Gene

Sources for OTUD7A Gene

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