PARL (presenilin associated rhomboid like)

2014-11-01  

Identity

HGNC
PARL
LOCATION
3q27.1
LOCUSID
55486
ALIAS
PRO2207,PSARL,PSARL1,PSENIP2,RHBDS1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55486
MIM: 607858
HGNC: 18253
Ensembl: ENSG00000175193

Variants:

dbSNP: 55486
ClinVar: 55486
TCGA: ENSG00000175193
COSMIC: PARL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000175193ENST00000311101Q9H300
ENSG00000175193ENST00000317096Q9H300
ENSG00000175193ENST00000417784H7C122
ENSG00000175193ENST00000418450H7C045
ENSG00000175193ENST00000421484F8WCQ4
ENSG00000175193ENST00000435888C9JNP8
ENSG00000175193ENST00000449306H7C0U0
ENSG00000175193ENST00000450375H7C1V6
ENSG00000175193ENST00000638817A0A1W2PS40
ENSG00000175193ENST00000639100A0A1W2PP66
ENSG00000175193ENST00000639900F8WCQ4

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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

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
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
359218902022Cleavage of mitochondrial homeostasis regulator PGAM5 by the intramembrane protease PARL is governed by transmembrane helix dynamics and oligomeric state.0
359218902022Cleavage of mitochondrial homeostasis regulator PGAM5 by the intramembrane protease PARL is governed by transmembrane helix dynamics and oligomeric state.0
321449862020Proapoptotic Mitochondrial Carrier Homolog Protein PSAP Mediates Death Receptor 6 Induced Apoptosis.4
323206862020PARL Protease: A Glimpse at Intramembrane Proteolysis in the Inner Mitochondrial Membrane.17
324706502020Accumulation of HAX-1 and PARL in brainstem- and cortical-type Lewy bodies in Parkinson's disease and dementia with Lewy bodies.2
321449862020Proapoptotic Mitochondrial Carrier Homolog Protein PSAP Mediates Death Receptor 6 Induced Apoptosis.4
323206862020PARL Protease: A Glimpse at Intramembrane Proteolysis in the Inner Mitochondrial Membrane.17
324706502020Accumulation of HAX-1 and PARL in brainstem- and cortical-type Lewy bodies in Parkinson's disease and dementia with Lewy bodies.2
293018592018PARL partitions the lipid transfer protein STARD7 between the cytosol and mitochondria.43
293018592018PARL partitions the lipid transfer protein STARD7 between the cytosol and mitochondria.43
281785232017The Mitochondrial Rhomboid Protease PARL Is Regulated by PDK2 to Integrate Mitochondrial Quality Control and Metabolism.36
282881302017PARL mediates Smac proteolytic maturation in mitochondria to promote apoptosis.63
286417772017Role of PARL-PINK1-Parkin pathway in adipocyte differentiation.11
288135802017Genetic Association of the PARL-ABCC5-HTR3D-HTR3C Locus With Primary Angle-Closure Glaucoma in Chinese.6
281785232017The Mitochondrial Rhomboid Protease PARL Is Regulated by PDK2 to Integrate Mitochondrial Quality Control and Metabolism.36

Citation

Dessen P

PARL (presenilin associated rhomboid like)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71666/css/css/card-gene.css