PARL (presenilin associated rhomboid like)

2014-11-01  

Identity

HGNC
LOCATION
3q27.1
LOCUSID
ALIAS
PRO2207,PSARL,PSARL1,PSENIP2,RHBDS1
FUSION GENES

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
211389422011PINK1 cleavage at position A103 by the mitochondrial protease PARL.130
214263482011The mitochondrial intramembrane protease PARL cleaves human Pink1 to regulate Pink1 trafficking.117
213550492011Functional alteration of PARL contributes to mitochondrial dysregulation in Parkinson's disease.48
229155952012Rhomboid protease PARL mediates the mitochondrial membrane potential loss-induced cleavage of PGAM5.39
282881302017PARL mediates Smac proteolytic maturation in mitochondria to promote apoptosis.26
157295722005The mitochondrial rhomboid protease PSARL is a new candidate gene for type 2 diabetes.23
261018262015Intramembrane protease PARL defines a negative regulator of PINK1- and PARK2/Parkin-dependent mitophagy.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
196802652009Hax1 lacks BH modules and is peripherally associated to heavy membranes: implications for Omi/HtrA2 and PARL activity in the regulation of mitochondrial stress and apoptosis.15
147327052004Self-regulated cleavage of the mitochondrial intramembrane-cleaving protease PARL yields Pbeta, a nuclear-targeted peptide.14

Citation

Dessen P

PARL (presenilin associated rhomboid like)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71666/parl