SERPINI1 - serpin family I member 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5274

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

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables serine-type endopeptidase inhibitor activity	IDA IDA: Inferred from direct assay	9442076	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasmic vesicle lumen	IDA IDA: Inferred from direct assay	17040209	GOA
located in extracellular space	IDA IDA: Inferred from direct assay	17040209	GOA
located in neuronal cell body	IDA IDA: Inferred from direct assay	17040209	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

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%, as determined by reducing SDS-PAGE.

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12729	SERPINI1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17787	Serpini1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24254	Serpini1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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