SERPINI1 - serpin family I member 1 Gene

Homo sapiens

Also known as PI12; HNS-S1; HNS-S2; neuroserpin

Gene ID: 5274 | Gene type: protein coding

About SERPINI1

Cytogenetic location: 3q26.1 Genomic coordinates (GRCh38): 3:167,735,721-167,825,569 (from NCBI)

This gene has 7 transcripts (splice variants), 207 orthologues, 36 paralogues and is associated with 2 phenotypes. Biased expression in brain (RPKM 83.3), testis (RPKM 7.2) and 3 other tissues.

Summary

This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The protein is primarily secreted by axons in the brain, and preferentially reacts with and inhibits tissue-type plasminogen activator. It is thought to play a role in the regulation of axonal growth and the development of synaptic plasticity. Mutations in this gene result in familial encephalopathy with neuroserpin inclusion bodies (FENIB), which is a dominantly inherited form of familial encephalopathy and epilepsy characterized by the accumulation of mutant neuroserpin Polymers. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]

SERPINI1 Products(2)

mRNA	Protein	Name
NM_001122752.2	NP_001116224.1	neuroserpin precursor
NM_005025.5	NP_005016.1	neuroserpin precursor

SERPINI1 Protein Structure

Serpin

0
100
200
300
410 a.a.

Protein Preferred Names

Protein Names

neuroserpin

PI-12

Recombinant SERPINI1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7270	Neuroserpin Protein, Human (CHO)	Q99574 (T17-L410)	≥95%

Related Diseases

Diseases

Alias

Encephalopathy, Familial, With Neuroserpin Inclusion Bodies

Familial Encephalopathy With Neuroserpin Inclusion Bodies	FENIB
Encephalopathy, Familial, With Collins Bodies	Familial Dementia With Neuroserpin Inclusion Bodies
Familial Encephalopathy With Collins Bodies

Progressive Dementia With Neuroserpin Inclusion Bodies

Late-Onset Familial Encephalopathy With Neuroserpin Inclusion Bodies

Dementia

Dementias	Presenile Dementia
Alzheimer Type Dementia	Alzheimer Sclerosis
Alzheimer Disease Dementia	Alzheimer Dementia
Primary Degenerative Alzheimer Type Dementia	End Stage Alzheimer'S Dementia
Alzheimer'S Type Atypical Dementia	Alzheimer Type Presenile Dementia
Early Onset Alzheimer Dementia	Dementia In Alzheimer Disease Type 2
Dementia In Alzheimer Disease With Early Onset	Early Onset Alzheimer Type Dementia, Uncomplicated
Primary Degenerative Alzheimer Type Dementia, Early Onset	Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated
Alzheimer Disease Dementia With Early Onset	Presenile Sclerosis
Presenile Brain Sclerosis	Presenile Alzheimer Brain Sclerosis
Late Onset Alzheimer Dementia	Dementia In Alzheimer Disease Type 1
Dementia In Alzheimer Disease With Late Onset	Primary Degenerative Alzheimer Type Dementia, Late Onset
Sdat - [Senile Dementia, Alzheimer Type]	Alzheimer Disease Dementia With Late Onset
Late Onset Alzheimer Brain Sclerosis	Senile Alzheimer Brain Disease
Senile Alzheimer Brain Sclerosis	Senile Primary Degenerative Alzheimer Type Dementia
Senile Dementia Of The Alzheimer Type	Arteriosclerotic Dementia
Strategic-Infarct Dementia	Post Stroke Dementia
Vascular Cognitive Impairment	Vascular Dementia
Dementia Of The Lewy Body Type	Dementia With Lewy Bodies
Sdlt - [Senile Dementia Of The Lewy Body Type]	Senile Dementia Of The Lewy Body Type
Alcohol-Related Dementia	Alcoholic Dementia Nos
Alcohol-Induced Dementia	Alcoholic Brain Syndrome
Chronic Alcoholic Brain Syndrome	Alcohol Dementia
Late Onset Alcoholic Psychosis	Residual And Late-Onset Alcohol-Induced Psychotic Disorder
Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder	Late-Onset Psychoactive Substance-Induced Psychotic Disorder
Inhalant Dementia	Volatile Solvents Dementia
Dementia In Paralysis Agitans	Pdd - [Parkinson Disease Dementia]
Dementia Syndrome Of Parkinson Disease	Dementia In Parkinson Disease
Parkinson Related Dementia	Dementia In Huntington Chorea
Hiv - [Human Immunodeficiency Virus] Dementia	Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex
Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex	Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex
Aids Related Dementia	Dementia Due To Niacin Deficiency

Encephalopathy

Brain Diseases	Encephalopathies
Toxic Encephalopathy	Toxic Brain Fever
Toxic Brain Inflammation	Toxic Brain Stem Inflammation
Toxic Cerebral Fever	Toxic Cerebrospinal Fever
Toxic Cerebrospinal Inflammation	Encephalopathy Nec
Encephalopathy Nos	Encephalopathy Disease
Encephalopathy Syndrome

Cerebral Amyloid Angiopathy, Itm2b-Related, 1

Dementia, Familial British	Fbd
Presenile Dementia With Spastic Ataxia	Familial British Dementia
Abri Amyloidosis	Cerebral Amyloid Angiopathy, British Type
Itm2b-Related Cerebral Amyloid Angiopathy 1	Familial Dementia, British Type
Cerebral Amyloid Angiopathy, Itm2b-Related 1	CAA-ITM2B1
Cerebral Amyloid Angiopathy British Type	Dementia, Familial, British

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Alpha-1-Antitrypsin Deficiency

Alpha 1-Antitrypsin Deficiency	Alpha-1 Antitrypsin Deficiency
Aat Deficiency	Aatd
A1ATD	Emphysema Due To Aat Deficiency
A1at Deficiency	Emphysema-Cirrhosis, Due To Aat Deficiency
Hemorrhagic Diathesis Due To Antithrombin Pittsburgh	Alpha-1 Antiprotease Deficiency
Alpha 1 Antitrypsin Deficiency	Aat
Alpha-1 Protease Inhibitor Deficiency	Alpha-1 Related Emphysema
Genetic Emphysema	Hereditary Pulmonary Emphysema
Inherited Emphysema	Alpha-1-Proteinase Inhibitor Deficiency
Alpha1-Antitrypsin Deficiency	Alpha-1-Antitrypsin Deficiency, Autosomal Recessive
Emphysema, Hereditary Pulmonary	Aatd - [Alpha-1-Antitrypsin] Deficiency

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Adrenal Gland Pheochromocytoma

Pheochromocytoma

Progressive Myoclonus Epilepsy

Pme	Progressive Myoclonic Epilepsy
Myoclonic Epilepsies, Progressive	Unverricht-Lundborg Syndrome

Frontotemporal Dementia

Pallidopontonigral Degeneration	Frontotemporal Lobar Degeneration
Semantic Dementia	FTD
Frontotemporal Lobe Dementia	Multiple System Tauopathy With Presenile Dementia
Dementia, Frontotemporal	Frontotemporal Dementia With Parkinsonism
Mstd	Frontotemporal Lobar Degeneration With Tau Inclusions
Ftld With Tau Inclusions	Dementia, Frontotemporal, With Parkinsonism
Fldem	Ftdp17
Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex	Ddpac
Wilhelmsen-Lynch Disease	Wld
Ppnd	Dementia, Frontotemporal, With Or Without Parkinsonism
Semantic Primary Progressive Aphasia	Semantic Variant Ppa
Wilhemsen-Lynch Disease	Frontotemporal Dementia-Amyotrophic Lateral Sclerosis
Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17	Ftd-Als
Ftld	Pick Complex
Pick Disease Of The Brain	Frontotemporal Dementia With Parkinsonism-17
Grn-Related Frontotemporal Dementia	Frontotemporal Dementia With Motor Neuron Disease
Dementia In Fronto-Temporal Lobar Degeneration	Ftd - [Frontotemporal Dementia]
Temple Dementia	Frontal Lobe Dementia

Stroke, Ischemic

Cerebral Infarction	Stroke
Ischemic Stroke	Cerebrovascular Accident
Cerebral Infarction, Susceptibility To	Stroke, Ischemic, Susceptibility To
Cerebral Infarct	Ischemic Stroke, Susceptibility To
Stroke, Susceptibility To	Cva - Cerebral Infarction
ISCHSTR	Ischemic Cerebrovascular Accident

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

Huntington Disease

Huntington'S Disease	Huntington Chorea
Huntington'S Chorea	HD
Huntington Chronic Progressive Hereditary Chorea	Juvenile Huntington Disease
Chronic Progressive Chorea	Chronic Progressive Hereditary Chorea
Hc - [Huntington Chorea]	Hereditary Chorea
Progressive Hereditary Chorea

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12729	SERPINI1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SERPINI1	MGD	MGI:1194506
Rattus norvegicus	SERPINI1	RGD	RGD:619896
Canis familiaris	SERPINI1	VGNC	VGNC:46042
Bos taurus	SERPINI1	VGNC	VGNC:34481
Macaca mulatta	SERPINI1	VGNC	VGNC:77366
Felis catus	SERPINI1	VGNC	VGNC:68834
Others	SERPINI1	NCBI

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