NCSTN - nicastrin Gene

Also Known as ATAG1874

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23385

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables ATPase binding	IPI IPI: Inferred from physical interaction	26094765	GOA
enables growth factor receptor binding	IPI IPI: Inferred from physical interaction	26094765	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12297508	GOA
enables protein-macromolecule adaptor activity	IGI IGI: Inferred from genetic interaction	12763021	GOA
enables protein-macromolecule adaptor activity	IMP IMP: Inferred from mutant phenotype	12297508	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in Notch receptor processing	IDA IDA: Inferred from direct assay	27608597	GOA
involved in Notch receptor processing	IMP IMP: Inferred from mutant phenotype	12297508	GOA
involved in amyloid precursor protein catabolic process	IDA IDA: Inferred from direct assay	15274632	GOA
involved in amyloid precursor protein catabolic process	IGI IGI: Inferred from genetic interaction	12763021	GOA
involved in amyloid precursor protein metabolic process	IDA IDA: Inferred from direct assay	25043039	GOA
involved in amyloid-beta formation	IDA IDA: Inferred from direct assay	27608597	GOA
involved in amyloid-beta formation	IGI IGI: Inferred from genetic interaction	12763021	GOA
involved in amyloid-beta formation	IMP IMP: Inferred from mutant phenotype	12297508	GOA
involved in membrane protein ectodomain proteolysis	IDA IDA: Inferred from direct assay	15274632	GOA
involved in membrane protein intracellular domain proteolysis	IDA IDA: Inferred from direct assay	15274632	GOA
involved in positive regulation of endopeptidase activity	IGI IGI: Inferred from genetic interaction	12763021	GOA
involved in positive regulation of endopeptidase activity	IMP IMP: Inferred from mutant phenotype	12297508	GOA
involved in protein processing	IDA IDA: Inferred from direct assay	15274632	GOA
involved in protein processing	IGI IGI: Inferred from genetic interaction	12763021	GOA
involved in protein processing	IMP IMP: Inferred from mutant phenotype	12297508	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	15274632	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	15274632	GOA
part of gamma-secretase complex	IDA IDA: Inferred from direct assay	12297508	GOA
part of gamma-secretase complex	IGI IGI: Inferred from genetic interaction	12763021	GOA
part of gamma-secretase complex	IPI IPI: Inferred from physical interaction	26280335	GOA
located in membrane	IDA IDA: Inferred from direct assay	25043039	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	15274632	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

NCSTN Protein Structure

Nicastrin

0
200
400
600
709 a.a.

Protein Preferred Names	Protein Names
nicastrin	anterior pharynx-defective 2

NCSTN Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	NCSTN	Q92542	P49768-PRO_0000025592	Homo sapiens	P49768-PRO_0000025592	Anti Bait CoIP	15890777
Intra	NCSTN	Q92542	APH1A	Homo sapiens	Q96BI3	Anti Bait CoIP	12297508
Intra	NCSTN	Q92542	PSEN1	Homo sapiens	P49768	BN-PAGE	16641999
Intra	NCSTN	Q92542	PSEN1	Homo sapiens	P49768	Cosedimentation	16641999
Intra	NCSTN	Q92542	TMED10	Homo sapiens	P49755	BN-PAGE	16641999
Intra	NCSTN	Q92542	TMED10	Homo sapiens	P49755	Anti Bait CoIP	16641999
Intra	NCSTN	Q92542	TMED10	Homo sapiens	P49755	Cosedimentation	16641999
Intra	NCSTN	Q92542	PSENEN	Homo sapiens	Q9NZ42	Anti Bait CoIP	18201567
Intra	NCSTN	Q92542	PSENEN	Homo sapiens	Q9NZ42	Cosedimentation	16641999
Intra	NCSTN	Q92542	PSENEN	Homo sapiens	Q9NZ42	BN-PAGE	16641999

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant NCSTN Proteins

Art. -Nr.	Produktname	Accession	Reinheit
HY-P74698	Nicastrin Protein, Human (HEK293, His)	Q92542-1 (N34-E669)	≥ 95%, as determined by reducing SDS-PAGE.

NCSTN Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P81652	Nicastrin Antibody (YA1397)	WB, IP	Human, Mouse, Rat
HY-P81652A	Nicastrin Antibody (YA1397)(PBS only)	WB, IP	Human, Mouse, Rat

Related Diseases

Diseases	Alias
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

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

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS09103	NCSTN Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18670	Ncstn Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25156	Ncstn Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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