OTUB1 OTU deubiquitinase, ubiquitin aldehyde binding 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: OTUB1provided by HGNC
Official Full Name: OTU deubiquitinase, ubiquitin aldehyde binding 1provided by HGNC
Primary source: HGNC:HGNC:23077
See related: Ensembl:ENSG00000167770 MIM:608337; AllianceGenome:HGNC:23077
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OTB1; OTU1; HSPC263
Summary: 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]
Expression: Ubiquitous expression in brain (RPKM 29.9), placenta (RPKM 22.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (63986438..63998412)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (63976132..63988115)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (63753910..63765884)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Involvement of the OTUB1-YAP1 axis in driving malignant behaviors of head and neck squamous cell carcinoma.
Title: Involvement of the OTUB1-YAP1 axis in driving malignant behaviors of head and neck squamous cell carcinoma.
The Interaction of OTUB1 and TRAF3 Mediates NLRP3 Inflammasome Activity to Regulate TGF-beta1-induced BEAS-2B Cell Injury.
Title: The Interaction of OTUB1 and TRAF3 Mediates NLRP3 Inflammasome Activity to Regulate TGF-β1-induced BEAS-2B Cell Injury.
OTUB1's role in promoting OSCC development by stabilizing RACK1 involves cell proliferation, migration, invasion, and tumor-associated macrophage M1 polarization.
Title: OTUB1's role in promoting OSCC development by stabilizing RACK1 involves cell proliferation, migration, invasion, and tumor-associated macrophage M1 polarization.
OTUB1 inhibits breast cancer by non-canonically stabilizing CCN6.
Title: OTUB1 inhibits breast cancer by non-canonically stabilizing CCN6.
SET7 methylates the deubiquitinase OTUB1 at Lys [122] to impair its binding to E2 enzyme UBC13 and relieve its suppressive role on ferroptosis.
Title: SET7 methylates the deubiquitinase OTUB1 at Lys (122) to impair its binding to E2 enzyme UBC13 and relieve its suppressive role on ferroptosis.
OTUB1 Catalytic-Independently Deubiquitinates TGFBI and Mediates the Angiogenesis in Infantile Hemangioma by Regulating Glycolysis.
Title: OTUB1 Catalytic-Independently Deubiquitinates TGFBI and Mediates the Angiogenesis in Infantile Hemangioma by Regulating Glycolysis.
OTUB1 suppresses Hippo signaling via modulating YAP protein in gastric cancer.
Title: OTUB1 suppresses Hippo signaling via modulating YAP protein in gastric cancer.
Mutant p53 driven-LINC00857, a protein scaffold between FOXM1 and deubiquitinase OTUB1, promotes the metastasis of pancreatic cancer.
Title: Mutant p53 driven-LINC00857, a protein scaffold between FOXM1 and deubiquitinase OTUB1, promotes the metastasis of pancreatic cancer.
Overexpression of OTU domain-containing ubiquitin aldehyde-binding protein 1 exacerbates colorectal cancer malignancy by inhibiting protein degradation of beta-Catenin via Ubiquitin-proteasome pathway.
Title: Overexpression of OTU domain-containing ubiquitin aldehyde-binding protein 1 exacerbates colorectal cancer malignancy by inhibiting protein degradation of β-Catenin via Ubiquitin-proteasome pathway.
OTUB1 augments hypoxia signaling via its non-canonical ubiquitination inhibition of HIF-1alpha during hypoxia adaptation.
Title: OTUB1 augments hypoxia signaling via its non-canonical ubiquitination inhibition of HIF-1α during hypoxia adaptation.

Submit: New GeneRIF Correction See all GeneRIFs (51)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	HIV-1 Nef downregulates the expression of ubiquitin thioesterase (OTUB1) protein in Nef-transfected SupT1 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

RH102958 (e-PCR)
- UniSTS:97292

SHGC-30562 (e-PCR)
- UniSTS:167698

GDB:434012 (e-PCR)
- UniSTS:157204

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

sY3084 (e-PCR)
- UniSTS:515126

D10S16 (e-PCR)
- UniSTS:155756

D1S1423 (e-PCR)
- UniSTS:149619

D1S1425 (e-PCR)
- UniSTS:149621

D11S3114 (e-PCR)
- UniSTS:152207

L29953 (e-PCR)
- UniSTS:52164

RH78815 (e-PCR)
- UniSTS:56519

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cysteine-type deubiquitinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables cysteine-type deubiquitinase activity	IDA Inferred from Direct Assay more info	PubMed
enables deNEDDylase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin binding	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin binding	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin-protein transferase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage response	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA repair	IEA Inferred from Electronic Annotation more info
involved_in adaptive immune response	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of double-strand break repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of double-strand break repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of TORC1 signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in protein K48-linked deubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein K48-linked deubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein deubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in proteolysis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info

General protein information

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Preferred Names: ubiquitin thioesterase OTUB1

Names: OTU domain, ubiquitin aldehyde binding 1; OTU domain-containing ubiquitin aldehyde-binding protein 1; OTU-domain Ubal-binding 1; deubiquitinating enzyme OTUB1; otubain-1; ubiquitin-specific protease otubain 1; ubiquitin-specific-processing protease OTUB1

NP_060140.2

EC 3.4.19.12

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_017670.3 → NP_060140.2 ubiquitin thioesterase OTUB1

See identical proteins and their annotated locations for NP_060140.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the predominant transcript.

Source sequence(s)

AK098029, AP000721, BC007519, CK906312

Consensus CDS

CCDS8055.1

UniProtKB/Swiss-Prot

Q32Q78, Q96FW1, Q96II3, Q9NXQ4, Q9P0B8

UniProtKB/TrEMBL

Q659F9

Related

ENSP00000444357.1, ENST00000538426.6

Conserved Domains (1) summary

pfam10275
Location:40 → 271

Peptidase_C65; Peptidase C65 Otubain

RNA

NR_003089.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2), also known as alternative reading frame 1 or ARF-1, includes an alternate segment in the 3' coding region, compared to variant 1, resulting in a frameshift. The nature of the polypeptide, if any, expressed from this transcript has not been experimentally confirmed. This variant is predominantly found in lymphoid tissues.

Source sequence(s)

AK098029, AL096714, CK906312