PARL - presenilin associated rhomboid like Gene

Homo sapiens

Also known as PSARL; PSARL1; RHBDS1; PRO2207; PSENIP2

Gene ID: 55486 | Gene type: protein coding

About PARL

Cytogenetic location: 3q27.1 Genomic coordinates (GRCh38): 3:183,826,489-183,884,880 (from NCBI)

This gene has 13 transcripts (splice variants), 270 orthologues and 5 paralogues. Ubiquitous expression in fat (RPKM 16.5), colon (RPKM 14.6) and 25 other tissues.

Summary

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. Proteolytic processing of the encoded protein results in the release of a small peptide, P-beta, which may transit to the nucleus. Mutations in this gene may be associated with Parkinson's disease. [provided by RefSeq, May 2016]

PARL Products(5)

mRNA	Protein	Name
NM_001037639.3	NP_001032728.1	presenilins-associated rhomboid-like protein, mitochondrial isoform 2
NM_001324436.2	NP_001311365.1	presenilins-associated rhomboid-like protein, mitochondrial isoform 3
NM_001324437.2	NP_001311366.1	presenilins-associated rhomboid-like protein, mitochondrial isoform 4
NM_001324438.2	NP_001311367.1	presenilins-associated rhomboid-like protein, mitochondrial isoform 5 precursor
NM_018622.7	NP_061092.3	presenilins-associated rhomboid-like protein, mitochondrial isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables endopeptidase activity	IDA IDA: Inferred from direct assay	22354088	GOA
enables endopeptidase activity	IGI IGI: Inferred from genetic interaction	21138942	GOA
enables endopeptidase activity	IMP IMP: Inferred from mutant phenotype	21426348	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21138942	GOA
enables serine-type endopeptidase activity	IMP IMP: Inferred from mutant phenotype	22915595	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in membrane protein proteolysis	IDA IDA: Inferred from direct assay	22354088	GOA
involved in protein processing	IMP IMP: Inferred from mutant phenotype	28288130	GOA
involved in proteolysis	IGI IGI: Inferred from genetic interaction	21138942	GOA
involved in proteolysis	IMP IMP: Inferred from mutant phenotype	21426348	GOA
involved in regulation of mitochondrion organization	IMP IMP: Inferred from mutant phenotype	21355049	GOA
involved in regulation of protein targeting to mitochondrion	IGI IGI: Inferred from genetic interaction	21355049	GOA
involved in regulation of proteolysis	IGI IGI: Inferred from genetic interaction	21355049	GOA
involved in regulation of reactive oxygen species metabolic process	IMP IMP: Inferred from mutant phenotype	21138942	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in mitochondrion	IDA IDA: Inferred from direct assay	22354088	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PARL Protein Structure

Rhomboid

0
100
200
300
379 a.a.

Protein Preferred Names

Protein Names

presenilins-associated rhomboid-like protein, mitochondrial

mitochondrial intramembrane-cleaving protease PARL

Related Diseases

Diseases

Alias

3-Methylglutaconic Aciduria With Cataracts, Neurologic Involvement And Neutropenia

3-Methylglutaconic Aciduria Type 7	Mga7
3-Methylglutaconic Aciduria Type Vii	Megcann
Mgca7	3-Methylglutaconic Aciduria-Cataract-Neurologic Involvement-Neutropenia Syndrome
3-Methylglutaconic Aciduria With Cataracts, Neurologic Involvement, And Neutropenia

Malignant Inflammatory Fibrous Histiocytoma

Inflammatory Mfh

Xanthosarcoma

Tremor, Hereditary Essential, 2

ETM2	Essential Tremor 2
Essential Tremor, Hereditary, 2	Hereditary Essential Tremor 2
Tremor Hereditary Essential, 2

3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy	3-Methylglutaconic Aciduria Type 3
Costeff Syndrome	Mga3
Costeff Optic Atrophy Syndrome	Optic Atrophy Plus Syndrome
Infantile Optic Atrophy With Chorea And Spastic Paraplegia	3-Methylglutaconic Aciduria Type Iii
Autosomal Recessive Optic Atrophy Plus Syndrome	Autosomal Recessive Optic Atrophy Type 3
Opa3 Defect	MGCA3
Mga, Type Iii	Iraqi Jewish Optic Atrophy Plus
Mga Type Iii	Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia
Iraqi-Jewish 'Optic Atrophy Plus'	Optic Atrophy 3, Autosomal Recessive
Opa3, Autosomal Recessive	Opa3-Related 3-Methylglutaconic Aciduria
Iraqi-Jewish Optic Atrophy Plus	Atrophy Of Optic Disc
3-Alpha Methylglutaconic Aciduria Type Iii	Optic Atrophy 3
Optic Atrophy Infantile With Chorea And Spastic Paraplegia	Autosomal Recessive Opa3
Autosomal Recessive Optic Atrophy 3	3-Methylglutaconic Aciduria 3
3-Alpha-Methylglutaconic Aciduria Type 3	Optic Atrophy 3 Autosomal Recessive
Atrophy, Optic	Atrophy, Optic, Plus Syndrome
Optic Nerve Atrophy	Primary Optic Atrophy
Oa - [Optic Atrophy]	Second Cranial Nerve Atrophy
Second Cranium Nerve Atrophy

Subacute Leukemia

Tabes Dorsalis

Posterior Spinal Sclerosis	Tabes Dorsalis - Neurosyphilis
Syphilitic Myelopathy

Spastic Paraplegia 7, Autosomal Recessive

SPG7	Hereditary Spastic Paraplegia 7
Spastic Paraplegia Type 7	Spastic Paraplegia 7
Hereditary Spastic Paraplegia, Paraplegin Type	Autosomal Recessive Spastic Paraplegia 7
Hereditary Spastic Paraplegia Paraplegin Type	Spastic Paraplegia-7
Paraplegia, Spastic, Autosomal Recessive, Type 7	Spastic Paraplegia, Hereditary
Autosomal Recessive Hereditary Spastic Paraplegia

Early-Onset Parkinson'S Disease

Early-Onset Parkinson Disease

Spinocerebellar Ataxia 28

Spinocerebellar Ataxia Type 28	SCA28
Ataxia, Spinocerebellar, Type 28

Parkinson Disease, Late-Onset

Parkinson Disease	Parkinson'S Disease
PD	PARK
Parkinson Disease, Susceptibility To	Late Onset Parkinson'S Disease
Late Onset Parkinson Disease	Paralysis Agitans
Primary Parkinsonism	Idiopathic Parkinson Disease
Parkinson'S	Parkinson Disease, Late-Onset, Susceptibility To
Parkinson Disease, Age Of Onset, Modifier	Lewy Body Parkinson Disease
Idiopathic Parkinson'S Disease	Pd - [Parkinson Disease]
Parkinson Disease Nos	Parkinson, Nos
Primary Parkinson Disease

Leber Hereditary Optic Neuropathy, Modifier Of

Leber Optic Atrophy	Leber Hereditary Optic Neuropathy
LHON	Leber'S Hereditary Optic Neuropathy
Leber Optic Atrophy, Susceptibility To	Leber'S Optic Atrophy
LOAM	Loas
Leber'S Disease	Leber'S Optic Neuropathy
Optic Atrophy, Hereditary, Leber	Lhon, Modifier Of
Optic Atrophy, Leber Type	Hereditary Optic Neuroretinopathy
Leber Hereditary Optic Atrophy	Loa
Optic Atrophy Leber Type	Leber Hereditary Optic Neuropathy, Modifier
Leber Hereditary Optic Neuropathy Susceptibility	Modifier Of Leber Hereditary Optic Neuropathy
Lebers Hereditary Optic Neuropathy	Leber Congenital Amaurosis

Optic Nerve Disease

Optic Neuropathy	Disorder Of The Second Nerve
Optic Nerve Disorder	Optic Nerve
Abnormality Of The Optic Nerve	Optic Nerve Disorders
Neuropathy, Optic	Disorder Of The Optic Nerve

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-152265A	PARL-IN-1 TFA	Activator	/	Phase 2

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-152265	PARL-IN-1	Activator	/	Unkown
HY-RS10044	PARL Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	PARL	VGNC	VGNC:53595
Mus musculus	PARL	MGD	MGI:1277152
Canis familiaris	PARL	VGNC	VGNC:54107
Rattus norvegicus	PARL	RGD	RGD:1306191

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