NCSTN - nicastrin Gene

中文名称：尼卡斯特林

种属: Homo sapiens

同用名: ATAG1874

基因 ID: 23385 | 基因类型: protein coding

关于 NCSTN

Cytogenetic location: 1q23.2 Genomic coordinates (GRCh38): 1:160,343,383-160,358,949 (from NCBI)

This gene has 45 transcripts (splice variants), 204 orthologues and is associated with 2 phenotypes. Ubiquitous expression in placenta (RPKM 38.1), duodenum (RPKM 30.4) and 25 other tissues.

功能概要

该基因编码一种 I 型跨膜糖蛋白，它是多聚体 γ-分泌酶复合物的组成部分。编码的蛋白质可切割完整的膜蛋白，包括 Notch 受体和 β-淀粉样蛋白前体蛋白，并且可能是 γ-分泌酶复合物组装所需的稳定辅助因子。 β-淀粉样蛋白前体蛋白的裂解产生淀粉样蛋白 β 肽，它是神经炎斑块的主要成分，也是阿尔茨海默病患者大脑中的标志性病变；然而，编码蛋白在阿尔茨海默氏病中的作用尚不清楚。该基因的突变与家族性痤疮反转有关。该基因的假基因存在于 21 号染色体上。已经描述了该基因的可变剪接转录本变体，但尚未确定其中一些变体的全长性质。[RefSeq 提供，2014 年 2 月]

This gene encodes a type I transmembrane glycoprotein that is an integral component of the multimeric gamma-secretase complex. The encoded protein cleaves integral membrane proteins, including Notch receptors and beta-amyloid precursor protein, and may be a stabilizing cofactor required for gamma-secretase complex assembly. The cleavage of beta-amyloid precursor protein yields amyloid beta peptide, the main component of the neuritic plaque and the hallmark lesion in the brains of patients with Alzheimer's disease; however, the nature of the encoded protein's role in Alzheimer's disease is not known for certain. Mutations in this gene are associated with familial acne inversa. A pseudogene of this gene is present on chromosome 21. Alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Feb 2014]

NCSTN 基因产物(4)

mRNA	Protein	Name
NM_001290184.2	NP_001277113.1	nicastrin isoform 2
NM_001290186.2	NP_001277115.1	nicastrin isoform 3 precursor
NM_001349729.2	NP_001336658.1	nicastrin isoform 4 precursor
NM_015331.3	NP_056146.1	nicastrin 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 ATPase binding	IPI IPI: 通过物理相互作用推断	26094765	GOA
enables growth factor receptor binding	IPI IPI: 通过物理相互作用推断	26094765	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	12297508	GOA
enables protein-macromolecule adaptor activity	IGI IGI: 通过遗传相互作用推断	12763021	GOA
enables protein-macromolecule adaptor activity	IMP IMP: 通过突变表型推断	12297508	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in Notch receptor processing	IDA IDA: 通过直接分析推断	27608597	GOA
involved in Notch receptor processing	IMP IMP: 通过突变表型推断	12297508	GOA
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 metabolic process	IDA IDA: 通过直接分析推断	25043039	GOA
involved in amyloid-beta formation	IDA IDA: 通过直接分析推断	27608597	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	12297508	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	12297508	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	12297508	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	12297508	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

NCSTN 蛋白结构

Nicastrin

0
200
400
600
709 a.a.

蛋白主名

其他名称

nicastrin

anterior pharynx-defective 2

重组 NCSTN 蛋白

目录号	产品名	蛋白编号	纯度
HY-P74698	Nicastrin Protein, Human (HEK293, His)	Q92542-1 (N34-E669)	≥95%

关联疾病

疾病名称

别名

Acne Inversa, Familial, 1

ACNINV1	Hidradenitis Suppurativa, Familial
Acne Inversa, Familial	Acne Inversa Familial
Hidradenitis Suppurativa Familial	Familial Acne Inversa
Acne Inversa, Familial, Type 1

Skin Disease

Skin Diseases	Genodermatosis
Abnormality Of The Skin	Skin Diseases, Genetic
Skin And Subcutaneous Tissue Disease	Dermatologic Disorders

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

Sweat Gland Disease

Sweat Gland Diseases

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

Anal Canal Squamous Cell Carcinoma

Squamous Cell Carcinoma Of The Anal Canal

Inclusion Body Myositis

Ibm	Sporadic Inclusion Body Myositis
Inflammatory Myopathy	Myositis, Inclusion Body
Inflammatory Myopathies	Sibm
Myositis Inclusion Body	Nonaka Myopathy
Inclusion Body Myopathy, Autosomal Recessive	Inclusion Body Myopathy, Autosomal Dominant
Myositis	Inclusion Body Myopathy, Sporadic

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

Spinocerebellar Ataxia, Autosomal Recessive 6

SCAR6	Norwegian Infantile Onset Ataxia
Autosomal Recessive Spinocerebellar Ataxia 6	Autosomal Recessive Spinocerebellar Ataxia Type 6
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Cerebellar Ataxia, Infantile Nonprogressive, Autosomal Recessive
Spinocerebellar Ataxia Autosomal Recessive 6	Cerebellar Ataxia Infantile Nonprogressive Autosomal Recessive

Cerebral Amyloid Angiopathy, Cst3-Related

Cerebral Amyloid Angiopathy	Hereditary Cerebral Hemorrhage With Amyloidosis
Hchwa	Hereditary Cystatin C Amyloid Angiopathy
Cerebral Amyloid Angiopathy, Familial	Amyloidosis, Cerebroarterial, Icelandic Type
Amyloidosis Vi	Cerebral Hemorrhage, Hereditary, With Amyloidosis
Cst3-Related Cerebral Amyloid Angiopathy	Cerebral Hemorrhage, Hereditary, With Amyloidosis, Icelandic Variant
Hereditary Cerebral Hemorrhage With Amyloidosis, Icelandic Variant	Caa, Familial
Cerebral Amyloid Angiopathy, Genetic	Acys Amyloidosis
Cst3-Related Amyloidosis	Cystatin Amyloidosis
Hchwa, Icelandic Type	Hereditary Cerebral Hemorrhage With Amyloidosis, Icelandic Type
Amyloidosis 6	AMYL6
Acys	Caa
Cerebral Amyloid Angiopathy Cst3-Related	Cerebroarterial Amyloidosis Icelandic Type
Cystatin C Amyloidosis	Hccaa
Hchwai	Hchwa-I
Hereditary Cerebral Hemorrhage With Amyloidosis Icelandic Type	Cerebral Amyloid Angiopathy Familial
Angiopathy, Amyloid, Cerebral, Cst3-Related	Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
Familial Cerebral Amyloid Angiopathy	Cerebral Amyloid Angiopathy, Hereditary

Sebaceous Gland Disease

Sebaceous Gland Anomaly

Sebaceous Gland Diseases

Cerebral Amyloid Angiopathy, App-Related

Hchwad	Amyloidosis, Cerebroarterial, App-Related
Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant	Cerebral Amyloid Angiopathy, App-Related, Dutch Variant
Cerebral Amyloid Angiopathy, App-Related, Iowa Variant	Cerebral Amyloid Angiopathy, App-Related, Italian Variant
Cerebral Amyloid Angiopathy, App-Related, Flemish Variant	Cerebral Amyloid Angiopathy, App-Related, Arctic Variant
Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants	App-Related Cerebral Amyloid Angiopathy
Abetaa21g Amyloidosis	Abeta Amyloidosis, Italian Type
Abeta Amyloidosis, Arctic Type	Abeta Amyloidosis, Iowa Type
Abeta Amyloidosis, Dutch Type	Hchwa-D
Abeta Amyloidosis, Flemish Type	Abetaa21g-Related Amyloidosis
Hchwa, Flemish Type	Hereditary Cerebral Hemorrhage With Amyloidosis, Flemish Type
Abetae22k Amyloidosis	Hchwa, Italian Type
Hereditary Cerebral Hemorrhage With Amyloidosis, Italian Type	Abetae22g Amyloidosis
Hchwa, Arctic Type	Hereditary Cerebral Hemorrhage With Amyloidosis, Arctic Type
Abetad23n Amyloidosis	Hchwa, Iowa Type
Hereditary Cerebral Hemorrhage With Amyloidosis, Iowa Type	Abetal34v Amyloidosis
Abeta Amyloidosis, Piedmont Type	Abetal34v-Related Amyloidosis
Hchwa, Piedmont Type	Hereditary Cerebral Hemorrhage With Amyloidosis, Piedmont Type
Abetae22q Amyloidosis	Hchwa, Dutch Type
Hereditary Cerebral Hemorrhage With Amyloidosis, Dutch Type	CAA-APP
Amyloidosis Cerebroarterial App-Related	Amyloidosis Hereditary With Cerebral Hemorrhage Dutch Variant
Cerebral Amyloid Angiopathy App-Related Arctic Variant	Cerebral Amyloid Angiopathy App-Related Dutch Variant
Cerebral Amyloid Angiopathy App-Related Flemish Variant	Cerebral Amyloid Angiopathy App-Related Iowa Variant
Cerebral Amyloid Angiopathy App-Related Italian Variant	Familial Occipital Calcifications With Hemorrhagic Strokes Leukoencephalopathy Arterial Dysplasia Dementia
Fochs-Ladd	Hereditary Cerebral Amyloid Angiopathy Dutch Type
Hereditary Cerebral Hemorrhage With Amyloidosis Dutch Type	Hereditary Cerebral Hemorrhage With Amyloidosis Italian Type
Cerebral Hemorrhage With Amyloidosis, Hereditary, Dutch Type

Pick Disease Of Brain

Pick Disease	Pick'S Disease
Pick Disease Of The Brain	Lobar Atrophy Of Brain
Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions	Behavioral Variant Of Frontotemporal Dementia
Dementia In Pick'S Disease	Lobar Atrophy Of The Brain
Bvftd	Bv-Ftd
PIDB	Picks Disease

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

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

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-RS09103	NCSTN Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	NCSTN	RGD	RGD:631418
Bos taurus	NCSTN	VGNC	VGNC:31929
Macaca mulatta	NCSTN	VGNC	VGNC:74976
Canis familiaris	NCSTN	VGNC	VGNC:43668
Felis catus	NCSTN	VGNC	VGNC:63745
Mus musculus	NCSTN	MGD	MGI:1891700
Others	NCSTN	NCBI

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站点地图隐私声明

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上海工商

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沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

NCSTN - nicastrin Gene

关于 NCSTN

功能概要

NCSTN 基因产物(4)

NCSTN 蛋白结构

重组 NCSTN 蛋白

关联疾病

直系同源

热门区域

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NCSTN - nicastrin Gene

关于 NCSTN

功能概要

NCSTN 基因产物(4)

NCSTN 蛋白结构

重组 NCSTN 蛋白

关联疾病

相关产品

直系同源

热门区域

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B

C

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G

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J

L

N

Q

S

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