PARL - presenilin associated rhomboid like Gene

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

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 55486

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	参考文献	由来
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	参考文献	由来
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	参考文献	由来
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

関連疾患

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
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Phase
HY-152265A	PARL-IN-1 TFA	Activator	/	Phase 2

Pre-clinical Phase

Bioactive Molecules (5)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-169380	PARL-IN-2		99.80%	Unkown
HY-152265	PARL-IN-1	Activator	96.57%	Unkown
HY-RS10044	PARL Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18365	Parl Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24844	Parl Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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
Others	PARL	NCBI