OTUB1 Gene (Protein Coding)

OTU Deubiquitinase, Ubiquitin Aldehyde Binding 1

GC11P063985
GIFtS:
41
The product of this gene is a member of the OTU (ovarian tumor) superfamily of predicted cysteine proteases. The encoded protein is a highly specific ubiquitin iso-peptidase, and cleaves ubiquitin from branched poly-ubiquitin chains but not from ubiquitinated substrates. It interacts with another ubiquitin protease and an E3 ubiquitin ligase that inhibits cytokine gene transcri... See more...

Aliases for OTUB1 Gene

Aliases for OTUB1 Gene

  • OTU Deubiquitinase, Ubiquitin Aldehyde Binding 1 2 3 5
  • OTU Domain-Containing Ubiquitin Aldehyde-Binding Protein 1 3 4
  • Ubiquitin-Specific-Processing Protease OTUB1 3 4
  • OTU Domain, Ubiquitin Aldehyde Binding 1 2 3
  • Deubiquitinating Enzyme OTUB1 3 4
  • Ubiquitin Thioesterase OTUB1 3 4
  • Otubain-1 3 4
  • OTB1 3 4
  • OTU1 3 4
  • Ubiquitin-Specific Protease Otubain 1 3
  • OTU-Domain Ubal-Binding 1 3
  • EC 3.4.19.12 4
  • FLJ20113 2
  • FLJ40710 2
  • EC 3.1.2 51
  • HSPC263 3
  • OTUB1 5
  • HOTU1 4

External Ids for OTUB1 Gene

Previous GeneCards Identifiers for OTUB1 Gene

  • GC11P063529
  • GC11P063510
  • GC11P063753
  • GC11P060082

Summaries for OTUB1 Gene

Entrez Gene Summary for OTUB1 Gene

  • The product of this gene is a member of the OTU (ovarian tumor) superfamily of predicted cysteine proteases. The encoded protein is a highly specific ubiquitin iso-peptidase, and cleaves ubiquitin from branched poly-ubiquitin chains but not from ubiquitinated substrates. It interacts with another ubiquitin protease and an E3 ubiquitin ligase that inhibits cytokine gene transcription in the immune system. It is proposed to function in specific ubiquitin-dependent pathways, possibly by providing an editing function for polyubiquitin chain growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

GeneCards Summary for OTUB1 Gene

OTUB1 (OTU Deubiquitinase, Ubiquitin Aldehyde Binding 1) is a Protein Coding gene. Diseases associated with OTUB1 include Autosomal Dominant Cerebellar Ataxia. Among its related pathways are Deubiquitination and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include hydrolase activity and thiol-dependent ubiquitin-specific protease activity. An important paralog of this gene is OTUB2.

UniProtKB/Swiss-Prot Summary for OTUB1 Gene

  • Hydrolase that can specifically remove 'Lys-48'-linked conjugated ubiquitin from proteins and plays an important regulatory role at the level of protein turnover by preventing degradation. Regulator of T-cell anergy, a phenomenon that occurs when T-cells are rendered unresponsive to antigen rechallenge and no longer respond to their cognate antigen. Acts via its interaction with RNF128/GRAIL, a crucial inductor of CD4 T-cell anergy. Isoform 1 destabilizes RNF128, leading to prevent anergy. In contrast, isoform 2 stabilizes RNF128 and promotes anergy. Surprisingly, it regulates RNF128-mediated ubiquitination, but does not deubiquitinate polyubiquitinated RNF128. Deubiquitinates estrogen receptor alpha (ESR1). Mediates deubiquitination of 'Lys-48'-linked polyubiquitin chains, but not 'Lys-63'-linked polyubiquitin chains. Not able to cleave di-ubiquitin. Also capable of removing NEDD8 from NEDD8 conjugates, but with a much lower preference compared to 'Lys-48'-linked ubiquitin.
  • Plays a key non-catalytic role in DNA repair regulation by inhibiting activity of RNF168, an E3 ubiquitin-protein ligase that promotes accumulation of 'Lys-63'-linked histone H2A and H2AX at DNA damage sites. Inhibits RNF168 independently of ubiquitin thioesterase activity by binding and inhibiting UBE2N/UBC13, the E2 partner of RNF168, thereby limiting spreading of 'Lys-63'-linked histone H2A and H2AX marks. Inhibition occurs by binding to free ubiquitin: free ubiquitin acts as an allosteric regulator that increases affinity for UBE2N/UBC13 and disrupts interaction with UBE2V1. The OTUB1-UBE2N/UBC13-free ubiquitin complex adopts a configuration that mimics a cleaved 'Lys48'-linked di-ubiquitin chain.

Gene Wiki entry for OTUB1 Gene

Additional gene information for OTUB1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OTUB1 Gene

Genomics for OTUB1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for OTUB1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OTUB1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OTUB1

Top Transcription factor binding sites by QIAGEN in the OTUB1 gene promoter:
  • Elk-1
  • HSF1 (long)
  • HSF1short
  • NF-1
  • NF-1/L
  • NRF-2
  • RFX1
  • Sox9
  • STAT3
  • Zic3

Genomic Locations for OTUB1 Gene

Latest Assembly
chr11:63,985,853-64,001,811
(GRCh38/hg38)
Size:
15,959 bases
Orientation:
Plus strand

Previous Assembly
chr11:63,753,910-63,765,884
(GRCh37/hg19 by Entrez Gene)
Size:
11,975 bases
Orientation:
Plus strand

chr11:63,753,325-63,769,283
(GRCh37/hg19 by Ensembl)
Size:
15,959 bases
Orientation:
Plus strand

Genomic View for OTUB1 Gene

Genes around OTUB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OTUB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OTUB1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for OTUB1 Gene

Proteins for OTUB1 Gene

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  • Protein details for OTUB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96FW1-OTUB1_HUMAN
    Recommended name:
    Ubiquitin thioesterase OTUB1
    Protein Accession:
    Q96FW1
    Secondary Accessions:
    • Q32Q78
    • Q96II3
    • Q9NXQ4
    • Q9P0B8

    Protein attributes for OTUB1 Gene

    Size:
    271 amino acids
    Molecular mass:
    31284 Da
    Quaternary structure:
    • Isoform 1 and isoform 2 interact with RNF128. Isoform 1 forms a ternary complex with RNF128 and USP8. Isoform 1 interacts with the C-terminal UCH catalytic domain of USP8. Isoform 2 does not associate with USP8. Interacts with FUS, ESR1 and RACK1. Interacts with UBE2N/UBC13.
    SequenceCaution:
    • Sequence=AAF28941.1; Type=Erroneous initiation; Evidence={ECO:0000305};
    Miscellaneous:
    • In the structure described by PubMed:18954305, the His-265 active site of the catalytic triad is located too far to interact directly with the active site Cys-91. A possible explanation is that OTUB1 is in inactive conformation in absence of ubiquitin and a conformation change may move His-265 in the proximity of Cys-91 in presence of ubiquitin substrate.
    • [Isoform 2]: Lacks the catalytic sites for protease activity.

    Three dimensional structures from OCA and Proteopedia for OTUB1 Gene

    Alternative splice isoforms for OTUB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for OTUB1 Gene

Protein Expression for OTUB1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for OTUB1 Gene

Q96FW1:
  • KESDHIHIIAL
  • DRGEGGT
  • FPEGSEP
  • TRPDGNCF

Post-translational modifications for OTUB1 Gene

  • Ubiquitination at Lys71, Lys84, Lys109, Lys188, and Lys201
  • Modification sites at PhosphoSitePlus

Other Protein References for OTUB1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for OTUB1 Gene

Gene Families for OTUB1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for OTUB1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for OTUB1 Gene

GenScript: Design optimal peptide antigens:
  • Ubiquitin-specific-processing protease OTUB1 (OTUB1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96FW1

UniProtKB/Swiss-Prot:

OTUB1_HUMAN :
  • In addition to ubiquitin-binding at the Cys-91 active site, a proximal ubiquitin-binding site is also present at Cys-23 Occupancy of the active site is needed to enable tight binding to the second site. Distinct binding sites for the ubiquitins may allow to discriminate among different isopeptide linkages (i.e. 'Lys-48'-, 'Lys-63'-linked polyubiquitin) in polyubiquitin substrates and achieve linkage-specific deubiquitination.
  • Belongs to the peptidase C65 family.
Domain:
  • In addition to ubiquitin-binding at the Cys-91 active site, a proximal ubiquitin-binding site is also present at Cys-23 Occupancy of the active site is needed to enable tight binding to the second site. Distinct binding sites for the ubiquitins may allow to discriminate among different isopeptide linkages (i.e. 'Lys-48'-, 'Lys-63'-linked polyubiquitin) in polyubiquitin substrates and achieve linkage-specific deubiquitination.
Family:
  • Belongs to the peptidase C65 family.
genes like me logo Genes that share domains with OTUB1: view

Function for OTUB1 Gene

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  2. CRISPR products for research
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  4. Inhibitory RNAs for research
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  6. Cell Lines for research

Molecular function for OTUB1 Gene

UniProtKB/Swiss-Prot Function:
Hydrolase that can specifically remove 'Lys-48'-linked conjugated ubiquitin from proteins and plays an important regulatory role at the level of protein turnover by preventing degradation. Regulator of T-cell anergy, a phenomenon that occurs when T-cells are rendered unresponsive to antigen rechallenge and no longer respond to their cognate antigen. Acts via its interaction with RNF128/GRAIL, a crucial inductor of CD4 T-cell anergy. Isoform 1 destabilizes RNF128, leading to prevent anergy. In contrast, isoform 2 stabilizes RNF128 and promotes anergy. Surprisingly, it regulates RNF128-mediated ubiquitination, but does not deubiquitinate polyubiquitinated RNF128. Deubiquitinates estrogen receptor alpha (ESR1). Mediates deubiquitination of 'Lys-48'-linked polyubiquitin chains, but not 'Lys-63'-linked polyubiquitin chains. Not able to cleave di-ubiquitin. Also capable of removing NEDD8 from NEDD8 conjugates, but with a much lower preference compared to 'Lys-48'-linked ubiquitin.
UniProtKB/Swiss-Prot Function:
Plays a key non-catalytic role in DNA repair regulation by inhibiting activity of RNF168, an E3 ubiquitin-protein ligase that promotes accumulation of 'Lys-63'-linked histone H2A and H2AX at DNA damage sites. Inhibits RNF168 independently of ubiquitin thioesterase activity by binding and inhibiting UBE2N/UBC13, the E2 partner of RNF168, thereby limiting spreading of 'Lys-63'-linked histone H2A and H2AX marks. Inhibition occurs by binding to free ubiquitin: free ubiquitin acts as an allosteric regulator that increases affinity for UBE2N/UBC13 and disrupts interaction with UBE2V1. The OTUB1-UBE2N/UBC13-free ubiquitin complex adopts a configuration that mimics a cleaved 'Lys48'-linked di-ubiquitin chain.
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={ECO:0000269|PubMed:23827681};.
UniProtKB/Swiss-Prot EnzymeRegulation:
By free ubiquitin: binding of free ubiquitin triggers conformational changes in the OTU domain and formation of a ubiquitin-binding helix in the N-terminus, promoting binding of the conjugated donor ubiquitin in UBE2N/UBC13 to OTUB1.

Enzyme Numbers (IUBMB) for OTUB1 Gene

Phenotypes From GWAS Catalog for OTUB1 Gene

Gene Ontology (GO) - Molecular Function for OTUB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004843 thiol-dependent ubiquitin-specific protease activity IEA,IDA 18954305
GO:0005515 protein binding IPI 16364312
GO:0008233 peptidase activity IEA --
GO:0008234 cysteine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with OTUB1: view
genes like me logo Genes that share phenotypes with OTUB1: view

Animal Models for research

  • Taconic Biosciences Mouse Models for OTUB1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OTUB1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for OTUB1 Gene

Localization for OTUB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OTUB1 Gene

Cytoplasm.

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 OTUB1 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 4
mitochondrion 3
cytoskeleton 2
endosome 2
plasma membrane 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for OTUB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with OTUB1: view

Pathways & Interactions for OTUB1 Gene

genes like me logo Genes that share pathways with OTUB1: view

Pathways by source for OTUB1 Gene

1 R&D Systems pathway for OTUB1 Gene
1 Cell Signaling Technology pathway for OTUB1 Gene

SIGNOR curated interactions for OTUB1 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for OTUB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
GO:0006281 DNA repair IEA --
GO:0006508 proteolysis IEA --
GO:0006974 cellular response to DNA damage stimulus IEA,IDA 20725033
genes like me logo Genes that share ontologies with OTUB1: view

Drugs & Compounds for OTUB1 Gene

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  1. Drug products for research
No Compound Related Data Available

Transcripts for OTUB1 Gene

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  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for OTUB1 Gene

1 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OTUB1

Alternative Splicing Database (ASD) splice patterns (SP) for OTUB1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b
SP1: - - - - -
SP2: - - - -
SP3: - - -
SP4: - - -
SP5: - -
SP6: - -
SP7: -

Relevant External Links for OTUB1 Gene

GeneLoc Exon Structure for
OTUB1

Expression for OTUB1 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OTUB1 Gene

mRNA expression in normal human tissues for OTUB1 Gene
mRNA expression by GTEx for OTUB1 GenemRNA expression by BioGPS for OTUB1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for OTUB1 Gene



Protein tissue co-expression partners for OTUB1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OTUB1

SOURCE GeneReport for Unigene cluster for OTUB1 Gene:

Hs.473788

mRNA Expression by UniProt/SwissProt for OTUB1 Gene:

Q96FW1-OTUB1_HUMAN
Tissue specificity: Isoform 1 is ubiquitous. Isoform 2 is expressed only in lymphoid tissues such as tonsils, lymph nodes and spleen, as well as peripheral blood mononuclear cells.

Evidence on tissue expression from TISSUES for OTUB1 Gene

  • Nervous system(4.9)
  • Intestine(4.8)
  • Skin(4.6)
  • Blood(4.5)
  • Liver(4.4)
  • Lung(3.9)
  • Kidney(3.2)
  • Eye(2.7)
  • Muscle(2.6)
  • Lymph node(2.4)
  • Spleen(2.2)
  • Stomach(2.2)
  • Bone marrow(2.1)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with OTUB1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for OTUB1 Gene

Orthologs for OTUB1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for OTUB1 Gene

Organism Taxonomy Gene Similarity Type Details
Mouse
(Mus musculus)
 Mammalia Otub1 31
  • 100 (a)
 OneToOne
Chimpanzee
(Pan troglodytes)
 Mammalia OTUB1 30 31
  • 99.26 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia OTUB1 31
  • 95 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia OTUB1 30 31
  • 94.83 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia OTUB1 30 31
  • 93.97 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia RGD1565010 30
  • 91.57 (n)
Oppossum
(Monodelphis domestica)
 Mammalia OTUB1 31
  • 87 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves OTUB1 30 31
  • 80 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia OTUB1 31
  • 85 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia otub1 30
  • 71.04 (n)
Str.10055 30
Zebrafish
(Danio rerio)
 Actinopterygii otub1b 31
  • 83 (a)
 OneToMany
otub1a 31
  • 79 (a)
 OneToMany
wufa19h07 30
Fruit Fly
(Drosophila melanogaster)
 Insecta CG4968 31
  • 53 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea otub-1 31
  • 30 (a)
 OneToMany
Barley
(Hordeum vulgare)
 Liliopsida Hv.12030 30
Wheat
(Triticum aestivum)
 Liliopsida Ta.10490 30
Bread mold
(Neurospora crassa)
 Ascomycetes NCU00595 30
  • 48.27 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.5787 31
  • 45 (a)
 OneToMany
Species where no ortholog for OTUB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Beta proteobacteria (Neisseria meningitidis)
  • 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)
  • 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 Vase (Ciona intestinalis)
  • 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)

Evolution for OTUB1 Gene

ENSEMBL:
Gene Tree for OTUB1 (if available)
TreeFam:
Gene Tree for OTUB1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OTUB1: view image

Paralogs for OTUB1 Gene

Paralogs for OTUB1 Gene

(2) SIMAP similar genes for OTUB1 Gene using alignment to 7 proteins:

  • OTUB1_HUMAN
  • F5GYJ8_HUMAN
  • F5GYN4_HUMAN
  • F5H3F0_HUMAN
  • F5H4F3_HUMAN
  • F5H6Q1_HUMAN
  • J3KR44_HUMAN
genes like me logo Genes that share paralogs with OTUB1: view

Variants for OTUB1 Gene

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  1. SNP Genotyping and Copy Number Assays for research

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for OTUB1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for OTUB1 Gene

Variant ID Type Subtype PubMed ID
esv29993 CNV loss 17803354
nsv1042075 CNV loss 25217958
nsv555181 CNV loss 21841781
nsv951010 CNV deletion 24416366

Variation tolerance for OTUB1 Gene

Residual Variation Intolerance Score: 29.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.06; 37.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OTUB1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
OTUB1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OTUB1 Gene

Disorders for OTUB1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for OTUB1 Gene - From: COP

Disorder Aliases PubMed IDs
autosomal dominant cerebellar ataxia
  • spinocerebellar ataxia
- elite association - COSMIC cancer census association via MalaCards
Search OTUB1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for OTUB1

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with OTUB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for OTUB1 Gene

Publications for OTUB1 Gene

  1. OTU Domain-containing ubiquitin aldehyde-binding protein 1 (OTUB1) deubiquitinates estrogen receptor (ER) alpha and affects ERalpha transcriptional activity. (PMID: 19383985) Stanisić V … O'Malley BW (The Journal of biological chemistry 2009) 2 3 4 23
  2. Structural basis and specificity of human otubain 1-mediated deubiquitination. (PMID: 18954305) Edelmann MJ … Kessler BM (The Biochemical journal 2009) 3 4 23
  3. Evidence for bidentate substrate binding as the basis for the K48 linkage specificity of otubain 1. (PMID: 19211026) Wang T … Wolberger C (Journal of molecular biology 2009) 3 4 23
  4. Otubains: a new family of cysteine proteases in the ubiquitin pathway. (PMID: 12704427) Balakirev MY … Chroboczek J (EMBO reports 2003) 2 3 4
  5. OTU deubiquitinases reveal mechanisms of linkage specificity and enable ubiquitin chain restriction analysis. (PMID: 23827681) Mevissen TE … Komander D (Cell 2013) 3 4

ExternalLinks

View latest publications for OTUB1 gene in Mastermind

Products for OTUB1 Gene

  • Addgene plasmids for OTUB1

Sources for OTUB1 Gene