PMPCB (peptidase, mitochondrial processing subunit beta)

2009-09-01  

Identity

HGNC
PMPCB
LOCATION
7q22.1
LOCUSID
9512
ALIAS
Beta-MPP,MAS1,MPP11,MPPB,MPPP52,P-52
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9512
MIM: 603131
HGNC: 9119
Ensembl: ENSG00000105819

Variants:

dbSNP: 9512
ClinVar: 9512
TCGA: ENSG00000105819
COSMIC: PMPCB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000105819ENST00000249269O75439
ENSG00000105819ENST00000428154G3V0E4
ENSG00000105819ENST00000443722F8WBE1
ENSG00000105819ENST00000444457F8WEC8
ENSG00000105819ENST00000453466F8WEA6
ENSG00000105819ENST00000456433F8WAZ6

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Mitochondrial protein importREACTOMER-HSA-1268020

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
313376032019PMPCB Silencing Sensitizes HCC Tumor Cells to Sorafenib Therapy.15
313376032019PMPCB Silencing Sensitizes HCC Tumor Cells to Sorafenib Therapy.15
295762182018Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.40
295762182018Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.40
249031032014OxLDL triggers retrograde translocation of arginase2 in aortic endothelial cells via ROCK and mitochondrial processing peptidase.40
249031032014OxLDL triggers retrograde translocation of arginase2 in aortic endothelial cells via ROCK and mitochondrial processing peptidase.40
223540882012Mitochondrial processing peptidase regulates PINK1 processing, import and Parkin recruitment.322
223540882012Mitochondrial processing peptidase regulates PINK1 processing, import and Parkin recruitment.322
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
195803452009Acute lymphoblastic leukemia-derived dendritic cells express tumor associated antigens: PNPT1, PMPCB, RHAMM, BSG and ERCC1.5
195803452009Acute lymphoblastic leukemia-derived dendritic cells express tumor associated antigens: PNPT1, PMPCB, RHAMM, BSG and ERCC1.5

Citation

Dessen P

PMPCB (peptidase, mitochondrial processing subunit beta)

Atlas Genet Cytogenet Oncol Haematol. 2009-09-01

Online version: http://atlasgeneticsoncology.org/gene/51109/pmpcb