Tissue expression of BAP1 - Summary - The Human Protein Atlas

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BAP1

TISSUE

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CELL

PATHOLOGY

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

GENERAL INFORMATION
Gene name	BAP1
Gene description	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
Protein class	Cancer-related genes Disease related genes Enzymes Potential drug targets Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	6
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Expressed in all
GTEx:	Expressed in all
FANTOM5:	Expressed in all

Protein evidence

Evidence at protein level

Protein expression

General nuclear expression.

DATA RELIABILITY
Data reliability description	Antibody staining mainly consistent with RNA expression data.
Reliability score	Approved based on 2 antibodies. HPA028814 , CAB004322
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RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

Cerebral cortex

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

Thyroid gland

Parathyroid gland

Adrenal gland

Bone marrow & immune system

Appendix

Bone marrow

Lymph node

Tonsil

Spleen

Muscle tissues

Heart muscle

Skeletal muscle

Smooth muscle

Lung

Nasopharynx

N/A

Bronchus

N/A

Lung

Liver & gallbladder

Liver

Gallbladder

Pancreas

Pancreas

Gastrointestinal tract

Oral mucosa

N/A

Salivary gland

Esophagus

Stomach

Duodenum

Small intestine

Colon

Rectum

Kidney & urinary bladder

Kidney

Urinary bladder

Male tissues

Testis

Epididymis

Prostate

Seminal vesicle

Female tissues

Breast

Vagina

N/A

Cervix, uterine

Endometrium

Fallopian tube

Ovary

Placenta

Adipose & soft tissue

Adipose tissue

Soft tissue

N/A

Skin

Skin

Cerebral cortex

PROTEIN EXPRESSION OVERVIEW
Organ Expression Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
GTEx dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Expressed in all

GENE INFORMATION
Gene name	BAP1 (HGNC Symbol)
Synonyms	hucep-6, KIAA0272, UCHL2
Description	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) (HGNC Symbol)
Entrez gene summary	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]
Chromosome	3
Cytoband	p21.1
Chromosome location (bp)	52401013 - 52410350
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000163930 (version 83.38)
Entrez gene	8314
UniProt	Q92560 (UniProt - Evidence at protein level)
neXtProt	NX_Q92560
Antibodypedia	BAP1 antibodies

PROTEIN BROWSER

BAP1-001	BAP1-010	BAP1-014	BAP1-015	BAP1-016	BAP1-201

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
BAP1-001 ENSP00000417132 ENST00000460680	Q92560 [Direct mapping] Ubiquitin carboxyl-terminal hydrolase BAP1 A0A024R305 [Target identity:100%; Query identity:100%] Ubiquitin carboxyl-terminal hydrolase Show all	Enzymes ENZYME proteins Hydrolases Peptidases Cysteine-type peptidases Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0001558 [regulation of cell growth] GO:0003682 [chromatin binding] GO:0004843 [ubiquitin-specific protease activity] GO:0005515 [protein binding] GO:0005622 [intracellular] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005737 [cytoplasm] GO:0006464 [cellular protein modification process] GO:0006511 [ubiquitin-dependent protein catabolic process] GO:0008233 [peptidase activity] GO:0008285 [negative regulation of cell proliferation] GO:0016579 [protein deubiquitination] GO:0035517 [PR-DUB complex] GO:0035520 [monoubiquitinated protein deubiquitination] GO:0035522 [monoubiquitinated histone H2A deubiquitination] GO:0051726 [regulation of cell cycle] GO:0071108 [protein K48-linked deubiquitination] GO:1903955 [positive regulation of protein targeting to mitochondrion] Show all	729 aa 80.4 kDa	No	0
BAP1-010 ENSP00000296288 ENST00000296288	F8W6N3 [Direct mapping] Ubiquitin carboxyl-terminal hydrolase Show all	Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0004843 [ubiquitin-specific protease activity] GO:0005622 [intracellular] GO:0005654 [nucleoplasm] GO:0005737 [cytoplasm] GO:0006511 [ubiquitin-dependent protein catabolic process] Show all	711 aa 78.2 kDa	No	0
BAP1-014 ENSP00000420647 ENST00000478368	H0Y8E8 [Direct mapping] Ubiquitin carboxyl-terminal hydrolase BAP1 Show all	Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0004843 [ubiquitin-specific protease activity] GO:0005654 [nucleoplasm] GO:0005737 [cytoplasm] GO:0006511 [ubiquitin-dependent protein catabolic process] Show all	253 aa 28.2 kDa	No	0
BAP1-015 ENSP00000418320 ENST00000469613	H7C4V7 [Direct mapping] Ubiquitin carboxyl-terminal hydrolase BAP1 Show all	Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0004843 [ubiquitin-specific protease activity] GO:0005622 [intracellular] GO:0006511 [ubiquitin-dependent protein catabolic process] Show all	129 aa 14.6 kDa	No	0
BAP1-016 ENSP00000417776 ENST00000470173	C9J7L9 [Direct mapping] Ubiquitin carboxyl-terminal hydrolase Show all	Phobius predicted secreted proteins Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0004843 [ubiquitin-specific protease activity] GO:0005622 [intracellular] GO:0006511 [ubiquitin-dependent protein catabolic process] Show all	112 aa 12.3 kDa	No	0
BAP1-201 ENSP00000482839 ENST00000615113	Q96TC6 [Direct mapping] Cerebral protein-13; Ubiquitin carboxyl-terminal hydrolase BAP1 Show all	MEMSAT3 predicted membrane proteins SCAMPI predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014) Show all		162 aa 16.6 kDa	No	0

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