PARL - presenilin associated rhomboid like Gene

中文名称：早老素相关菱形样

种属: Homo sapiens

同用名: PSARL; PSARL1; RHBDS1; PRO2207; PSENIP2

基因 ID: 55486 | 基因类型: protein coding

关于 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.

功能概要

该基因编码位于线粒体内膜的膜内丝氨酸蛋白酶菱形家族成员。编码的蛋白质通过调节底物蛋白水解来调节线粒体重塑和细胞凋亡。编码蛋白质的蛋白水解加工导致小肽 P-β 的释放，它可能转运到细胞核。该基因的突变可能与帕金森病有关。[RefSeq 提供，2016 年 5 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables endopeptidase activity	IDA IDA: 通过直接分析推断	22354088	GOA
enables endopeptidase activity	IGI IGI: 通过遗传相互作用推断	21138942	GOA
enables endopeptidase activity	IMP IMP: 通过突变表型推断	21426348	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	21138942	GOA
enables serine-type endopeptidase activity	IMP IMP: 通过突变表型推断	22915595	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in membrane protein proteolysis	IDA IDA: 通过直接分析推断	22354088	GOA
involved in protein processing	IMP IMP: 通过突变表型推断	28288130	GOA
involved in proteolysis	IGI IGI: 通过遗传相互作用推断	21138942	GOA
involved in proteolysis	IMP IMP: 通过突变表型推断	21426348	GOA
involved in regulation of mitochondrion organization	IMP IMP: 通过突变表型推断	21355049	GOA
involved in regulation of protein targeting to mitochondrion	IGI IGI: 通过遗传相互作用推断	21355049	GOA
involved in regulation of proteolysis	IGI IGI: 通过遗传相互作用推断	21355049	GOA
involved in regulation of reactive oxygen species metabolic process	IMP IMP: 通过突变表型推断	21138942	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in mitochondrion	IDA IDA: 通过直接分析推断	22354088	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

PARL 蛋白结构

Rhomboid

0
100
200
300
379 a.a.

蛋白主名

其他名称

presenilins-associated rhomboid-like protein, mitochondrial

mitochondrial intramembrane-cleaving protease PARL

关联疾病

疾病名称

别名

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

疾病名称	别名
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

目录号	产品名	作用方式	纯度	Phase
HY-152265A	PARL-IN-1 TFA	Activator	/	Phase 2

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-152265	PARL-IN-1	Activator	/	否
HY-169380	PARL-IN-2		/	否
HY-RS10044	PARL Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。	站点地图隐私声明
沪ICP备15051369号-4 上海工商沪公网安备31011502019417 沪(浦)应急管危经许[2021]201709(QFYS) 营业执照（三证合一）
Copyright © 2013-2024 MedChemExpress. All Rights Reserved.

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

PARL - presenilin associated rhomboid like Gene

关于 PARL

功能概要

PARL 基因产物(5)

PARL 蛋白结构

关联疾病

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

姓名
邮箱 *

Sorry, but the email address you supplied was invalid.

PARL - presenilin associated rhomboid like Gene

关于 PARL

功能概要

PARL 基因产物(5)

PARL 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z