Tbio BAP1 Ubiquitin carboxyl-terminal hydrolase BAP1

Protein Summary

Description

Deubiquitinating enzyme that plays a key role in chromatin by mediating deubiquitination of histone H2A and HCFC1. Catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-119' (H2AK119ub1). Does not deubiquitinate monoubiquitinated histone H2B. Acts as a regulator of cell growth by mediating deubiquitination of HCFC1 N-terminal and C-terminal chains, with some specificity toward 'Lys-48'-linked polyubiquitin chains compared to 'Lys-63'-linked polyubiquitin chains. Deubiquitination of HCFC1 does not lead to increase stability of HCFC1. Interferes with the BRCA1 and BARD1 heterodimer activity by inhibiting their ability to mediate ubiquitination and autoubiquitination. It however does not mediate deubiquitination of BRCA1 and BARD1. Able to mediate autodeubiquitination via intramolecular interactions to couteract monoubiquitination at the nuclear localization signal (NLS), thereby protecting it from cytoplasmic sequestration (PubMed:24703950). Acts as a tumor suppressor. This gene belongs to the ubiquitin C-terminal hydrolase subfamily of deubiquitinating enzymes that are involved in the removal of ubiquitin from proteins. The encoded enzyme binds to the breast cancer type 1 susceptibility protein (BRCA1) via the RING finger domain of the latter and acts as a tumor suppressor. In addition, the enzyme may be involved in regulation of transcription, regulation of cell cycle and growth, response to DNA damage and chromatin dynamics. Germline mutations in this gene may be associated with tumor predisposition syndrome (TPDS), which involves increased risk of cancers including malignant mesothelioma, uveal melanoma and cutaneous melanoma. [provided by RefSeq, May 2013]

Uniprot Accession IDs

• Q92560
• A8K993
• Q6LEM0
• Q7Z5E8

Gene Name

• BAP1

Ensembl ID

• ENST00000460680
• ENSP00000417132
• ENSG00000163930

Symbol

• KIAA0272
• UCHL2
• hucep-6
• HUCEP-13

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
kinase perturbation	0.99
disease perturbation	0.83
histone modification site profile	0.79
transcription factor perturbation	0.74
cell type or tissue	0.73

Protein Classes

PANTHER Classes

Protein / Hydrolase / Protease / Cysteine Protease / Ubiquitin Carboxyl-terminal Hydrolase Bap1

DTO Classes

Protein / Enzyme / Protease / Cysteine Protease / Ubiquitin Carboxyl-terminal Hydrolase Bap1

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 242.27   (req: < 5)

Gene RIFs: 187   (req: <= 3)

Antibodies: 387   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 242.27   (req: >= 5)

Gene RIFs: 187   (req: > 3)

Antibodies: 387   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 17

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Expression Data (0 Tissues)

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No expression data found

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Target Illumination GWAS Analytics (TIGA)

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (134)

Explore Interacting Targets

1 – 10 of 134

• See Interactions on String-DB

ASXL1

Tbio

Family:  Epigenetic

Novelty:  0.00342965

p_int:  0.999999998

p_ni:  2e-9

p_wrong:  1e-9

Score:  0.978

Data Source:  BioPlex,Reactome,STRINGDB

ASXL3

Tbio

Family:  Epigenetic

Novelty:  0.03722366

p_int:  0.999999911

p_ni:  6e-9

p_wrong:  8.3e-8

Score:  0.806

Data Source:  BioPlex,STRINGDB

KDM1B

Tbio

Family:  Epigenetic

Novelty:  0.02174039

p_int:  0.999999907

p_ni:  9.3e-8

Score:  0.956

Data Source:  BioPlex,STRINGDB

ASXL2

Tbio

Family:  Epigenetic

Novelty:  0.04277784

p_int:  0.999999887

p_ni:  1.13e-7

Score:  0.983

Data Source:  BioPlex,Reactome,STRINGDB

MBD5

Tbio

Family:  Epigenetic

Novelty:  0.03015349

p_int:  0.999999836

p_ni:  1.5e-8

p_wrong:  1.5e-7

Score:  0.933

Data Source:  BioPlex,STRINGDB

PSME3

Tbio

Novelty:  0.01051254

p_int:  0.999999676

p_ni:  3.24e-7

Score:  0.162

Data Source:  BioPlex,STRINGDB

FOXK2

Tbio

Family:  TF

Novelty:  0.01420141

p_int:  0.999999624

p_ni:  3.76e-7

Score:  0.969

Data Source:  BioPlex,Reactome,STRINGDB

GOPC

Tbio

Novelty:  0.01110168

p_int:  0.999995523

p_ni:  0.000004458

p_wrong:  1.8e-8

Score:  0.181

Data Source:  BioPlex,STRINGDB

FOXK1

Tbio

Family:  TF

Novelty:  0.01321144

p_int:  0.999988043

p_ni:  0.000011957

Score:  0.965

Data Source:  BioPlex,Reactome,STRINGDB

CAMK2D

Tchem

Family:  Kinase

Novelty:  0.02326864

p_int:  0.99997876

p_ni:  0.000021239

p_wrong:  1e-9

Score:  0.179

Data Source:  BioPlex,STRINGDB

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (9)

Reactome (8)

WikiPathways (1)

DNA Double Strand Break Response (R-HSA-5693606)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	DNA Double Strand Break Response	58 targets	R-HSA-5693606
Reactome	DNA Double-Strand Break Repair	146 targets	R-HSA-5693532
Reactome	DNA Repair	306 targets	R-HSA-73894
Reactome	Deubiquitination	278 targets	R-HSA-5688426
Reactome	Metabolism of proteins	2050 targets	R-HSA-392499

Name	Explore in Pharos	Explore in Source
DNA Double Strand Break Response	58 targets	R-HSA-5693606
DNA Double-Strand Break Repair	146 targets	R-HSA-5693532
DNA Repair	306 targets	R-HSA-73894
Deubiquitination	278 targets	R-HSA-5688426
Metabolism of proteins	2050 targets	R-HSA-392499

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (22)

Functions (4)

Components (5)

Processes (13)

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1 – 4 of 4

GO Term	Evidence	Assigned by
chromatin binding	Inferred from Direct Assay (IDA)	UniProtKB
thiol-dependent ubiquitin-specific protease activity	Inferred from Direct Assay (IDA)	UniProtKB
thiol-dependent ubiquitinyl hydrolase activity	Inferred from Direct Assay (IDA)	UniProtKB
peptidase activity	Non-traceable Author Statement (NAS)	UniProtKB

Disease Associations ()

No disease associations found

GWAS Traits (21)

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1 – 5 of 21

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
triglyceride measurement	EFO_0004530	3	5	5		94.5
high density lipoprotein cholesterol measurement	EFO_0004612	6	6	8		92.2
urate measurement	EFO_0004531	1	4	4		92.2
BMI-adjusted waist circumference	EFO_0007789	2	8	8		89.4
BMI-adjusted waist-hip ratio	EFO_0007788	1	9	9		88.2

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GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
triglyceride measurement	EFO_0004530	5		94.5
high density lipoprotein cholesterol measurement	EFO_0004612	8		92.2
urate measurement	EFO_0004531	4		92.2
BMI-adjusted waist circumference	EFO_0007789	8		89.4
BMI-adjusted waist-hip ratio	EFO_0007788	9		88.2

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UniProt Keyword Find Similar Targets

No Header	No Header
Chromatin regulator
Coiled coil
Complete proteome
Cytoplasm
Hydrolase
Nucleus
Phosphoprotein
Polymorphism
Protease
Reference proteome

GWAS Trait Find Similar Targets

No Header	No Header
apolipoprotein A 1 measurement
apolipoprotein B measurement
blood protein measurement
BMI-adjusted waist circumference
BMI-adjusted waist-hip ratio
creatinine measurement
ferritin measurement
glomerular filtration rate
hematocrit
high density lipoprotein cholesterol measurement

MGI Phenotype Find Similar Targets

No Header	No Header
cardiovascular system phenotype
cellular phenotype
digestive/alimentary phenotype
embryo phenotype
endocrine/exocrine gland phenotype
growth/size/body region phenotype
hematopoietic system phenotype
homeostasis/metabolism phenotype
immune system phenotype
integument phenotype

IDG Resources

No IDG generated resources found

Orthologs (15)

1 – 5 of 15

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	BRCA1 associated protein 1	VGNC:5025	460426
Macaque	BRCA1 associated protein 1		697221
Mouse	Brca1 associated protein 1	MGI:1206586	104416
Rat	Brca1 associated protein 1	RGD:1311938	306257
Dog	BRCA1 associated protein 1	VGNC:38379	484737

Species	Name	OMA	EggNOG	Inparanoid
Chimp	BRCA1 associated protein 1
Macaque	BRCA1 associated protein 1
Mouse	Brca1 associated protein 1
Rat	Brca1 associated protein 1
Dog	BRCA1 associated protein 1

Publication Statistics

PubMed Score 242.27

PubMed score by year

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PubTator Score 354.24

PubTator score by year

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Related Publications

Text Mined References (215)

GeneRif Annotations (187)

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PMID	Year	Title