SERPINI1 (serpin family I member 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5274
Gene name Gene Name - the full gene name approved by the HGNC.
Serpin family I member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SERPINI1
Synonyms (NCBI Gene) Gene synonyms aliases
HNS-S1, HNS-S2, PI12, neuroserpin
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q26.1
Summary Summary of gene provided in NCBI Entrez Gene.
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 t
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(5)
SNP ID Visualize variation Clinical significance Consequence
rs121909051 T>C Pathogenic Missense variant, coding sequence variant
rs121909052 A>G Pathogenic Missense variant, coding sequence variant
rs121909053 G>A Pathogenic Missense variant, coding sequence variant
rs121909054 G>A Pathogenic Missense variant, coding sequence variant
rs1577418477 A>C Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(2)
miRTarBase ID miRNA Experiments Reference
MIRT030837 hsa-miR-21-5p Microarray 18591254
MIRT030837 hsa-miR-21-5p Flow, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot 22464652
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(18)
GO ID Ontology Definition Evidence Reference
GO:0004867 Function Serine-type endopeptidase inhibitor activity IBA
GO:0004867 Function Serine-type endopeptidase inhibitor activity IDA 9442076, 19285087
GO:0004867 Function Serine-type endopeptidase inhibitor activity IEA
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
602445 8943 ENSG00000163536
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q99574
Protein name Neuroserpin (Peptidase inhibitor 12) (PI-12) (Serpin I1)
Protein function Serine protease inhibitor that inhibits plasminogen activators and plasmin but not thrombin (PubMed:11880376, PubMed:19265707, PubMed:19285087, PubMed:26329378, PubMed:9442076). May be involved in the formation or reorganization of synaptic conn
PDB 3F02 , 3F5N , 3FGQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00079 Serpin 24 → 397 Serpin (serine protease inhibitor) Domain
Tissue specificity TISSUE SPECIFICITY: Detected in brain cortex and hippocampus pyramidal neurons (at protein level) (PubMed:17040209). Detected in cerebrospinal fluid (at protein level) (PubMed:25326458). Predominantly expressed in the brain (PubMed:9070919). {ECO:0000269|
Sequence
Sequence length 410
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Encephalopathy With Neuroserpin Inclusion Bodies familial encephalopathy with neuroserpin inclusion bodies rs121909051, rs1577418477, rs121909052, rs121909053, rs121909054 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Epilepsy progressive myoclonus epilepsy N/A N/A GenCC
Hypertension Hypertension (confirmatory factor analysis Factor 12) N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Show/Hide Text Mining Associations (29)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 24036060
Atrophy Associate 38166833
Attention Deficit Disorder with Hyperactivity Associate 38166833
Auditory Perceptual Disorders Associate 38166833
Blood Coagulation Disorders Associate 28747664
Body Weight Associate 10595921
Brain Diseases Associate 10595921, 17212813, 21435071, 26732982
Brain Neoplasms Inhibit 17212813
Brain Neoplasms Associate 28747664
Carcinoma Hepatocellular Stimulate 24369324