SERPINI1 (serpin family I member 1)

Gene

• Entrez ID: 5274
• Gene name: Serpin family I member 1
• Gene symbol: SERPINI1
• Synonyms (NCBI Gene): HNS-S1, HNS-S2, PI12, neuroserpin
• Chromosome: 3
• Chromosome location: 3q26.1
• 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 t

SNPs

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

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)

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
GO:0005615	Component	Extracellular space	IDA	17040209
GO:0005615	Component	Extracellular space	IEA
GO:0007417	Process	Central nervous system development	TAS	9070919
GO:0007422	Process	Peripheral nervous system development	TAS	9070919
GO:0010976	Process	Positive regulation of neuron projection development	ISS
GO:0030414	Function	Peptidase inhibitor activity	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0034774	Component	Secretory granule lumen	IEA
GO:0043025	Component	Neuronal cell body	IDA	17040209
GO:0043025	Component	Neuronal cell body	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0060205	Component	Cytoplasmic vesicle lumen	IDA	17040209
GO:0070062	Component	Extracellular exosome	HDA	23533145

Other IDs

• MIM: 602445
• HGNC: 8943
• e!Ensembl: ENSG00000163536

Protein

• 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:

  MAFLGLFSLLVLQSMATGATFPEEAIADLSVNMYNRLRATGEDENILFSPLSIALAMGMM
  ELGAQGSTQKEIRHSMGYDSLKNGEEFSFLKEFSNMVTAKESQYVMKIANSLFVQNGFHV
  NEEFLQMMKKYFNAAVNHVDFSQNVAVANYINKWVENNTNNLVKDLVSPRDFDAATYLAL
  INAVYFKGNWKSQFRPENTRTFSFTKDDESEVQIPMMYQQGEFYYGEFSDGSNEAGGIYQ
  VLEIPYEGDEISMMLVLSRQEVPLATLEPLVKAQLVEEWANSVKKQKVEVYLPRFTVEQE
  IDLKDVLKALGITEIFIKDANLTGLSDNKEIFLSKAIHKSFLEVNEEGSEAAAVSGMIAI
  SRMAVLYPQVIVDHPFFFLIRNRRTGTILFMGRVMHPETMNTSGHDFEEL

• Sequence length: 410

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs121909053	RCV001813962
Familial encephalopathy with neuroserpin inclusion bodies	Pathogenic; Likely pathogenic	rs121909054, rs121909051, rs1577418477, rs121909052, rs121909053	RCV002250343 RCV000007502 RCV000007503 RCV000007504 RCV000007505 RCV000007506

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Lung cancer	Benign	rs113533056	RCV005896816
Ovarian serous cystadenocarcinoma	Benign	rs113533056	RCV005896814
SERPINI1-related disorder	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	rs146948408, rs755188629, rs61735306, rs139808176, rs61735307, rs61750375, rs55872908, rs11547811, rs61735308, rs774989939	RCV004755815 RCV003393085 RCV003957780 RCV003957781 RCV004755892 RCV003910350 RCV004755893 RCV004755961 RCV003962531 RCV003918128
Uterine carcinosarcoma	Benign	rs113533056	RCV005896815
Uterine corpus endometrial carcinoma	Benign	rs61735307	RCV005897631

Associations from Text Mining
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
Cerebral Infarction	Associate	17961231
Colorectal Neoplasms	Associate	23443137
Dementia	Associate	15291813, 26329378, 26732982, 28230174
Epilepsies Myoclonic	Associate	21435071, 38166833
Epilepsy	Associate	15291813, 28230174
Familial encephalopathy with neuroserpin inclusion bodies	Associate	10595921, 11880376, 15291813, 21435071, 26329378, 28255164, 32375228, 38166833
Glioblastoma	Associate	19423540
Glioma	Associate	36295489
Hemangioma Cavernous Central Nervous System	Associate	27737651
Hepatitis C Chronic	Associate	24369324
Multiple Sclerosis	Associate	21435071
Neoplasms	Inhibit	22464652
Neoplasms	Associate	36295489
Neoplastic Syndromes Hereditary	Associate	11141496
Neurodegenerative Diseases	Associate	11141496, 26329378
Non Muscle Invasive Bladder Neoplasms	Associate	34852762
Ovarian Neoplasms	Associate	32441301
Stomach Neoplasms	Associate	22464652
Stroke	Associate	17961231