• Gene id: 55486

Gene Summary

• Gene Symbol: PARL   Gene   UCSC   Ensembl
• Aliases: PRO2207, PSARL, PSARL1, PSENIP2, RHBDS1
• Gene name: presenilin associated rhomboid like
• Alternate names: presenilins-associated rhomboid-like protein, mitochondrial, mitochondrial intramembrane-cleaving protease PARL, rhomboid 7 homolog 1,
• Gene location: 3q27.1 (183884900: 183826487)     Exons: 13     NC_000003.12
• Gene summary(Entrez): This gene encodes a member of the rhomboid family of intramembrane serine proteases that is localized to the inner mitochondrial membrane. The encoded protein regulates mitochondrial remodeling and apoptosis through regulated substrate proteolysis. Proteo
• OMIM: 607858

Protein Summary

• Protein general information: Q9H300  
  • Name: Presenilins associated rhomboid like protein, mitochondrial (EC 3.4.21.105) (Mitochondrial intramembrane cleaving protease PARL) [Cleaved into: P beta (Pbeta)]
  • Length: 379  
  • Mass: 42190
• Sequence:

  MAWRGWAQRGWGCGQAWGASVGGRSCEELTAVLTPPQLLGRRFNFFIQQKCGFRKAPRKVEPRRSDPGTSGEAYK
  RSALIPPVEETVFYPSPYPIRSLIKPLFFTVGFTGCAFGSAAIWQYESLKSRVQSYFDGIKADWLDSIRPQKEGD
  FRKEINKWWNNLSDGQRTVTGIIAANVLVFCLWRVPSLQRTMIRYFTSNPASKVLCSPMLLSTFSHFSLFHMAAN
  MYVLWSFSSSIVNILGQEQFMAVYLSAGVISNFVSYVGKVATGRYGPSLGASGAIMTVLAAVCTKIPEGRLAIIF
  LPMFTFTAGNALKAIIAMDTAGMILGWKFFDHAAHLGGALFGIWYVTYGHELIWKNREPLVKIWHEIRTNGPKKG
  GGSK

• Structural information:
  • Interpro: IPR022764  IPR035952  
  • STRING: ENSP00000325421
• Other Databases: GeneCards:  PARL  Malacards:  PARL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006508	proteolysis	IGI	biological process
GO:0006508	proteolysis	IMP	biological process
GO:0004175	endopeptidase activity	IGI	molecular function
GO:0004175	endopeptidase activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2000377	regulation of reactive oxygen species metabolic process	IMP	biological process
GO:0010821	regulation of mitochondrion organization	IMP	biological process
GO:1903214	regulation of protein targeting to mitochondrion	IGI	biological process
GO:1903214	regulation of protein targeting to mitochondrion	NAS	biological process
GO:0033619	membrane protein proteolysis	TAS	biological process
GO:0033619	membrane protein proteolysis	NAS	biological process
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0030162	regulation of proteolysis	IGI	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0005743	mitochondrial inner membrane	IBA	cellular component
GO:0004252	serine-type endopeptidase activity	IBA	molecular function
GO:0010821	regulation of mitochondrion organization	IBA	biological process
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0006851	mitochondrial calcium ion transmembrane transport	TAS	biological process
GO:2001243	negative regulation of intrinsic apoptotic signaling pathway	IEA	biological process
GO:1903146	regulation of autophagy of mitochondrion	IEA	biological process
GO:0090201	negative regulation of release of cytochrome c from mitochondria	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0004175	endopeptidase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0033619	membrane protein proteolysis	IDA	biological process
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0005739	mitochondrion	IDA	cellular component

Diseases

Associated diseases	References
Myopia	PMID:18846214
Hyperinsulinism	PMID:15729572
Coronary artery disease	PMID:18758826
Breast carcinoma	PMID:24185965
Leber hereditary optic neuropathy	PMID:20407791
type 2 diabetes mellitus	PMID:20444421
type 2 diabetes mellitus	PMID:19185381
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)