PSENEN - presenilin enhancer, gamma-secretase subunit Gene

中文名称：早老素增强因子，γ-分泌酶亚单位

种属: Homo sapiens

同用名: PEN2; PEN-2; MDS033; ACNINV2; MSTP064

基因 ID: 55851 | 基因类型: protein coding

关于 PSENEN

Cytogenetic location: 19q13.12 Genomic coordinates (GRCh38): 19:35,745,651-35,747,519 (from NCBI)

This gene has 3 transcripts (splice variants), 186 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 43.8), lung (RPKM 19.9) and 25 other tissues.

功能概要

早老素是 γ 分泌酶蛋白复合物的成分，是某些 I 型跨膜蛋白 (例如 Notch 蛋白和 β 淀粉样蛋白前体蛋白) 的膜内加工所必需的。 Notch 受体的信号转导广泛的发育细胞命运。 β-淀粉样蛋白前体蛋白的加工会产生具有神经毒性的淀粉样蛋白 β 肽，这是与阿尔茨海默病相关的老年斑的主要成分。该基因编码一种蛋白质，该蛋白质是 Notch 通路信号以及伽马分泌酶的活性和积累所必需的。导致该基因单倍体不足的突变会导致家族性痤疮 inversa-2 (ACNINV2) 。可变剪接导致多个转录本变体。[RefSeq 提供，2013 年 7 月]

Presenilins, which are components of the gamma-secretase protein complex, are required for intramembranous processing of some type I transmembrane proteins, such as the Notch proteins and the beta-amyloid precursor protein. Signaling by Notch receptors mediates a wide range of developmental cell fates. Processing of the beta-amyloid precursor protein generates neurotoxic amyloid beta Peptides, the major component of senile plaques associated with Alzheimer's disease. This gene encodes a protein that is required for Notch pathway signaling, and for the activity and accumulation of gamma-secretase. Mutations resulting in haploinsufficiency for this gene cause familial acne inversa-2 (ACNINV2). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

PSENEN 基因产物(2)

mRNA	Protein	Name
NM_001281532.3	NP_001268461.1	gamma-secretase subunit PEN-2
NM_172341.4	NP_758844.1	gamma-secretase subunit PEN-2

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 activator activity	IGI IGI: 通过遗传相互作用推断	12763021	GOA
enables endopeptidase activator activity	IMP IMP: 通过突变表型推断	12522139	GOA
enables enzyme binding	IPI IPI: 通过物理相互作用推断	12522139	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	15322109	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in amyloid precursor protein catabolic process	IDA IDA: 通过直接分析推断	15274632	GOA
involved in amyloid precursor protein catabolic process	IGI IGI: 通过遗传相互作用推断	12763021	GOA
involved in amyloid precursor protein catabolic process	IMP IMP: 通过突变表型推断	12660785	GOA
involved in amyloid precursor protein metabolic process	IDA IDA: 通过直接分析推断	25043039	GOA
involved in amyloid-beta formation	IGI IGI: 通过遗传相互作用推断	12763021	GOA
involved in amyloid-beta formation	IMP IMP: 通过突变表型推断	12660785	GOA
involved in membrane protein ectodomain proteolysis	IDA IDA: 通过直接分析推断	15274632	GOA
involved in membrane protein intracellular domain proteolysis	IDA IDA: 通过直接分析推断	15274632	GOA
involved in positive regulation of endopeptidase activity	IGI IGI: 通过遗传相互作用推断	12763021	GOA
involved in positive regulation of endopeptidase activity	IMP IMP: 通过突变表型推断	12522139	GOA
involved in protein processing	IDA IDA: 通过直接分析推断	15274632	GOA
involved in protein processing	IGI IGI: 通过遗传相互作用推断	12763021	GOA
involved in protein processing	IMP IMP: 通过突变表型推断	12522139	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in Golgi apparatus	IDA IDA: 通过直接分析推断	15274632	GOA
located in endoplasmic reticulum	IDA IDA: 通过直接分析推断	15274632	GOA
part of gamma-secretase complex	IDA IDA: 通过直接分析推断	25043039	GOA
part of gamma-secretase complex	IGI IGI: 通过遗传相互作用推断	12763021	GOA
part of gamma-secretase complex	IPI IPI: 通过物理相互作用推断	26280335	GOA
located in membrane	IDA IDA: 通过直接分析推断	25043039	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	15274632	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

PSENEN 蛋白结构

PEN-2

0
101 a.a.

蛋白主名

其他名称

gamma-secretase subunit PEN-2

hematopoietic stem/progenitor cells protein MDS033

PSENEN 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
Intra	PSENEN	Q9NZ42	PSEN1	Homo sapiens	P49768-2	Y2H Prey Pooling	32296183
Intra	PSENEN	Q9NZ42	PSEN1	Homo sapiens	P49768-2	Y2H Array	32296183
Intra	PSENEN	Q9NZ42	CRB3	Homo sapiens	Q9BUF7-2	Y2H Prey Pooling	32296183
Intra	PSENEN	Q9NZ42	CRB3	Homo sapiens	Q9BUF7-2	Y2H Array	32296183
Intra	PSENEN	Q9NZ42	SLC10A2	Homo sapiens	Q12908	Y2H Array	32296183
Intra	PSENEN	Q9NZ42	SLC10A2	Homo sapiens	Q12908	Y2H Prey Pooling	32296183
Intra	PSENEN	Q9NZ42	SLC10A6	Homo sapiens	Q3KNW5	Y2H Prey Pooling	32296183
Intra	PSENEN	Q9NZ42	SLC10A6	Homo sapiens	Q3KNW5	Y2H Array	32296183
Intra	PSENEN	Q9NZ42	PSEN1	Homo sapiens	P49768	Anti Bait CoIP	15322109
Intra	PSENEN	Q9NZ42	PSEN1	Homo sapiens	P49768	Anti Tag CoIP	15322109
Intra	PSENEN	Q9NZ42	FYN	Homo sapiens	P06241	Validated Y2H	32814053
Intra	PSENEN	Q9NZ42	FYN	Homo sapiens	P06241	Y2H Pooling	32814053
Intra	PSENEN	Q9NZ42	FYN	Homo sapiens	P06241	Y2H Array	32814053
Intra	PSENEN	Q9NZ42	FTL	Homo sapiens	P02792	Y2H	23685131
Intra	PSENEN	Q9NZ42	CYTH1	Homo sapiens	Q15438	Y2H Array	32814053
Intra	PSENEN	Q9NZ42	CYTH1	Homo sapiens	Q15438	Y2H Pooling	32814053
Intra	PSENEN	Q9NZ42	CYTH1	Homo sapiens	Q15438	Validated Y2H	32814053
Intra	PSENEN	Q9NZ42	NCSTN	Homo sapiens	Q92542	Anti Bait CoIP	15322109

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease

ACNINV2	Acne Inversa Familial
Hidradenitis Suppurativa Familial	Acne Inversa, Familial, 2

Dowling-Degos Disease

Reticular Pigment Anomaly Of Flexures	Dark Dot Disease
Reticulate Acropigmentation Of Kitamura	Dowling-Degos Kitamura Disease
Kitamura Reticulate Acropigmentation	Ddd
Dowling-Degos-Kitamura Disease	Reticular Pigmented Anomaly Of Flexures

Acne

Acne Vulgaris	Acne Varioliformis
Frontalis Acne

Hidradenitis Suppurativa

Acne Inversa	Suppurative Hidradenitis
Acne Inversa, Familial	Apocrinitis
Hidradenitides, Suppurative	Hidradenitis, Suppurative
Suppurative Hidradenitides	Inverse Acne

Hidradenitis

Hydradenitis

Anal Canal Squamous Cell Carcinoma

Squamous Cell Carcinoma Of The Anal Canal

Alzheimer Disease, Familial, 1

Alzheimer Disease	Alzheimer'S Disease
Presenile And Senile Dementia	AD1
Alzheimer Disease, Susceptibility To	Alzheimer Disease, Late-Onset, Susceptibility To
Alzheimer Disease 1, Familial	AD
Familial Alzheimer Disease	Alzheimer Disease, Late-Onset
Alzheimers Dementia	Alzheimer Dementia
Alzheimer Sclerosis	Alzheimer Syndrome
Alzheimer-Type Dementia	Dat
Primary Senile Degenerative Dementia	Sdat
Alzheimer Disease 1	Autosomal Dominant Alzheimer Disease
Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy	Late Onset Alzheimer Disease
Alzheimers Disease	Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
Late-Onset Alzheimers Disease	Alzheimer'S Disease Pathway Kegg
Dementia Due To Alzheimer'S Disease	Alzheimer Disease Type 1
Alzheimers

Sweat Gland Disease

Sweat Gland Diseases

Sebaceous Gland Disease

Sebaceous Gland Anomaly

Sebaceous Gland Diseases

Pain Agnosia

Analgesia

Agnosia

Dyspraxia	Primary Visual Agnosia
Dyspraxia Syndrome	Monomodal Visual Amnesia
Visual Amnesia	Agnosia, Primary Visual
Apraxias	Alexia

Porokeratosis

Disseminated Superficial Actinic Porokeratosis	Dsap
Porokeratosis Of Mibelli	Porokeratosis, Disseminated Superficial Actinic
Porokeratosis, Disseminated Superficial Actinic, 1

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

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS11278	PSENEN Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	PSENEN	VGNC	VGNC:99688
Canis familiaris	PSENEN	VGNC	VGNC:53755
Bos taurus	PSENEN	VGNC	VGNC:99676
Rattus norvegicus	PSENEN	RGD	RGD:1312037
Mus musculus	PSENEN	MGD	MGI:1913590

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