UniProtKB - Q99574 (NEUS_HUMAN)
Neuroserpin
SERPINI1
Functioni
Serine protease inhibitor that inhibits plasminogen activators and plasmin but not thrombin (PubMed:9442076, PubMed:26329378, PubMed:19265707, PubMed:19285087, PubMed:11880376).
May be involved in the formation or reorganization of synaptic connections as well as for synaptic plasticity in the adult nervous system. May protect neurons from cell damage by tissue-type plasminogen activator (Probable).
Curated5 PublicationsSites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 362 – 363 | Reactive bond1 Publication1 Publication | 2 |
GO - Molecular functioni
- serine-type endopeptidase inhibitor activity Source: UniProtKB
GO - Biological processi
- central nervous system development Source: ProtInc
- negative regulation of endopeptidase activity Source: GO_Central
- peripheral nervous system development Source: ProtInc
- positive regulation of neuron projection development Source: ARUK-UCL
- regulation of cell adhesion Source: Ensembl
Keywordsi
Molecular function | Protease inhibitor, Serine protease inhibitor |
Enzyme and pathway databases
PathwayCommonsi | Q99574 |
SignaLinki | Q99574 |
Protein family/group databases
MEROPSi | I04.025 |
Names & Taxonomyi
Protein namesi | Recommended name: NeuroserpinAlternative name(s): Peptidase inhibitor 12 Short name: PI-12 Serpin I1 |
Gene namesi | Name:SERPINI1 Synonyms:PI12 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:8943, SERPINI1 |
MIMi | 602445, gene |
neXtProti | NX_Q99574 |
VEuPathDBi | HostDB:ENSG00000163536 |
Subcellular locationi
Extracellular region or secreted
- Secreted 1 Publication
Other locations
- secretory vesicle lumen 1 Publication
- Perikaryon 1 Publication
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
- extracellular space Source: UniProtKB
Other locations
- cytoplasmic vesicle lumen Source: UniProtKB
- neuronal cell body Source: UniProtKB
- perikaryon Source: UniProtKB-SubCell
- secretory granule lumen Source: Ensembl
Keywords - Cellular componenti
Cytoplasmic vesicle, SecretedPathology & Biotechi
Involvement in diseasei
Encephalopathy, familial, with neuroserpin inclusion bodies (FENIB)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_008520 | 49 | S → P in FENIB; Syracuse; decreased protein stability; decreased proteinase inhibitor activity; increased tendency to form polymers. 2 PublicationsCorresponds to variant dbSNP:rs121909051EnsemblClinVar. | 1 | |
Natural variantiVAR_008521 | 52 | S → R in FENIB; Portland. 1 Publication | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 161 | N → G: Increases protein stability and abolishes tendency to form polymers. No effect on inhibitory activity. 1 Publication | 1 | |
Mutagenesisi | 162 | L → K: Increases protein stability and abolishes tendency to form polymers. No effect on inhibitory activity. 1 Publication | 1 | |
Mutagenesisi | 163 | V → I: Increases protein stability and decreases tendency to form polymers. No effect on inhibitory activity. 1 Publication | 1 | |
Mutagenesisi | 289 | E → A: Slightly decreases inhibitory activity. No effect on thermal stability. 1 Publication | 1 | |
Mutagenesisi | 340 | S → A: Increases protein stability and decreases tendency to form polymers. No effect on inhibitory activity. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, NeurodegenerationOrganism-specific databases
DisGeNETi | 5274 |
MalaCardsi | SERPINI1 |
MIMi | 604218, phenotype |
OpenTargetsi | ENSG00000163536 |
Orphaneti | 530303, Progressive dementia with neuroserpin inclusion bodies |
PharmGKBi | PA35511 |
Miscellaneous databases
Pharosi | Q99574, Tbio |
Genetic variation databases
BioMutai | SERPINI1 |
DMDMi | 3183087 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 16 | Sequence analysisAdd BLAST | 16 | |
ChainiPRO_0000032521 | 17 – 410 | NeuroserpinAdd BLAST | 394 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 157 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 321 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 401 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
GlycoproteinProteomic databases
EPDi | Q99574 |
jPOSTi | Q99574 |
MassIVEi | Q99574 |
MaxQBi | Q99574 |
PaxDbi | Q99574 |
PeptideAtlasi | Q99574 |
PRIDEi | Q99574 |
ProteomicsDBi | 78333 |
PTM databases
GlyConnecti | 1559, 2 N-Linked glycans (1 site) |
GlyGeni | Q99574, 3 sites, 2 N-linked glycans (1 site) |
iPTMneti | Q99574 |
PhosphoSitePlusi | Q99574 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000163536, Expressed in substantia nigra and 239 other tissues |
ExpressionAtlasi | Q99574, baseline and differential |
Genevisiblei | Q99574, HS |
Organism-specific databases
HPAi | ENSG00000163536, Tissue enhanced (brain, choroid plexus) |
Interactioni
Subunit structurei
Monomer. Has a tendency to form large polymers already at 41 and 45 degrees Celsius (in vitro).
2 PublicationsProtein-protein interaction databases
BioGRIDi | 111292, 8 interactors |
IntActi | Q99574, 3 interactors |
MINTi | Q99574 |
STRINGi | 9606.ENSP00000295777 |
Miscellaneous databases
RNActi | Q99574, protein |
Structurei
Secondary structure
3D structure databases
AlphaFoldDBi | Q99574 |
SMRi | Q99574 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q99574 |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
SignalPhylogenomic databases
eggNOGi | KOG2392, Eukaryota |
GeneTreei | ENSGT00940000158168 |
HOGENOMi | CLU_023330_0_4_1 |
InParanoidi | Q99574 |
OMAi | KDVWRGL |
OrthoDBi | 1124079at2759 |
PhylomeDBi | Q99574 |
TreeFami | TF352620 |
Family and domain databases
Gene3Di | 2.30.39.10, 1 hit 3.30.497.10, 1 hit |
InterProi | View protein in InterPro IPR023795, Serpin_CS IPR023796, Serpin_dom IPR000215, Serpin_fam IPR036186, Serpin_sf IPR042178, Serpin_sf_1 IPR042185, Serpin_sf_2 |
PANTHERi | PTHR11461, PTHR11461, 1 hit |
Pfami | View protein in Pfam PF00079, Serpin, 1 hit |
SMARTi | View protein in SMART SM00093, SERPIN, 1 hit |
SUPFAMi | SSF56574, SSF56574, 1 hit |
PROSITEi | View protein in PROSITE PS00284, SERPIN, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All
10 20 30 40 50
MAFLGLFSLL VLQSMATGAT FPEEAIADLS VNMYNRLRAT GEDENILFSP
60 70 80 90 100
LSIALAMGMM ELGAQGSTQK EIRHSMGYDS LKNGEEFSFL KEFSNMVTAK
110 120 130 140 150
ESQYVMKIAN SLFVQNGFHV NEEFLQMMKK YFNAAVNHVD FSQNVAVANY
160 170 180 190 200
INKWVENNTN NLVKDLVSPR DFDAATYLAL INAVYFKGNW KSQFRPENTR
210 220 230 240 250
TFSFTKDDES EVQIPMMYQQ GEFYYGEFSD GSNEAGGIYQ VLEIPYEGDE
260 270 280 290 300
ISMMLVLSRQ EVPLATLEPL VKAQLVEEWA NSVKKQKVEV YLPRFTVEQE
310 320 330 340 350
IDLKDVLKAL GITEIFIKDA NLTGLSDNKE IFLSKAIHKS FLEVNEEGSE
360 370 380 390 400
AAAVSGMIAI SRMAVLYPQV IVDHPFFFLI RNRRTGTILF MGRVMHPETM
410
NTSGHDFEEL
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketC9JDY5 | C9JDY5_HUMAN | Neuroserpin | SERPINI1 | 245 | Annotation score: | ||
C9JQU8 | C9JQU8_HUMAN | Neuroserpin | SERPINI1 | 160 | Annotation score: | ||
H7C5T9 | H7C5T9_HUMAN | Neuroserpin | SERPINI1 | 119 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 70 | K → E in AAH18043 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 326 | S → Y in AAH18043 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_008520 | 49 | S → P in FENIB; Syracuse; decreased protein stability; decreased proteinase inhibitor activity; increased tendency to form polymers. 2 PublicationsCorresponds to variant dbSNP:rs121909051EnsemblClinVar. | 1 | |
Natural variantiVAR_008521 | 52 | S → R in FENIB; Portland. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | Z81326 mRNA Translation: CAB03626.1 AF248246, AF248244, AF248245 Genomic DNA Translation: AAG01089.1 AK290082 mRNA Translation: BAF82771.1 CR627434 mRNA Translation: CAH10520.1 CH471052 Genomic DNA Translation: EAW78571.1 CH471052 Genomic DNA Translation: EAW78572.1 CH471052 Genomic DNA Translation: EAW78573.1 BC018043 mRNA Translation: AAH18043.1 |
CCDSi | CCDS3203.1 |
RefSeqi | NP_001116224.1, NM_001122752.1 NP_005016.1, NM_005025.4 XP_016862107.1, XM_017006618.1 |
Genome annotation databases
Ensembli | ENST00000295777.9; ENSP00000295777.5; ENSG00000163536.13 ENST00000446050.7; ENSP00000397373.2; ENSG00000163536.13 |
GeneIDi | 5274 |
KEGGi | hsa:5274 |
MANE-Selecti | ENST00000446050.7; ENSP00000397373.2; NM_001122752.2; NP_001116224.1 |
UCSCi | uc003ffa.5, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | Z81326 mRNA Translation: CAB03626.1 AF248246, AF248244, AF248245 Genomic DNA Translation: AAG01089.1 AK290082 mRNA Translation: BAF82771.1 CR627434 mRNA Translation: CAH10520.1 CH471052 Genomic DNA Translation: EAW78571.1 CH471052 Genomic DNA Translation: EAW78572.1 CH471052 Genomic DNA Translation: EAW78573.1 BC018043 mRNA Translation: AAH18043.1 |
CCDSi | CCDS3203.1 |
RefSeqi | NP_001116224.1, NM_001122752.1 NP_005016.1, NM_005025.4 XP_016862107.1, XM_017006618.1 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
3F02 | X-ray | 1.80 | A/B | 17-362 | [»] | |
C/D | 363-410 | [»] | ||||
3F5N | X-ray | 3.15 | A/B/C/D/E | 17-410 | [»] | |
3FGQ | X-ray | 2.09 | A/B | 17-400 | [»] | |
AlphaFoldDBi | Q99574 | |||||
SMRi | Q99574 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 111292, 8 interactors |
IntActi | Q99574, 3 interactors |
MINTi | Q99574 |
STRINGi | 9606.ENSP00000295777 |
Protein family/group databases
MEROPSi | I04.025 |
PTM databases
GlyConnecti | 1559, 2 N-Linked glycans (1 site) |
GlyGeni | Q99574, 3 sites, 2 N-linked glycans (1 site) |
iPTMneti | Q99574 |
PhosphoSitePlusi | Q99574 |
Genetic variation databases
BioMutai | SERPINI1 |
DMDMi | 3183087 |
Proteomic databases
EPDi | Q99574 |
jPOSTi | Q99574 |
MassIVEi | Q99574 |
MaxQBi | Q99574 |
PaxDbi | Q99574 |
PeptideAtlasi | Q99574 |
PRIDEi | Q99574 |
ProteomicsDBi | 78333 |
Protocols and materials databases
Antibodypediai | 987, 475 antibodies from 39 providers |
DNASUi | 5274 |
Genome annotation databases
Ensembli | ENST00000295777.9; ENSP00000295777.5; ENSG00000163536.13 ENST00000446050.7; ENSP00000397373.2; ENSG00000163536.13 |
GeneIDi | 5274 |
KEGGi | hsa:5274 |
MANE-Selecti | ENST00000446050.7; ENSP00000397373.2; NM_001122752.2; NP_001116224.1 |
UCSCi | uc003ffa.5, human |
Organism-specific databases
CTDi | 5274 |
DisGeNETi | 5274 |
GeneCardsi | SERPINI1 |
HGNCi | HGNC:8943, SERPINI1 |
HPAi | ENSG00000163536, Tissue enhanced (brain, choroid plexus) |
MalaCardsi | SERPINI1 |
MIMi | 602445, gene 604218, phenotype |
neXtProti | NX_Q99574 |
OpenTargetsi | ENSG00000163536 |
Orphaneti | 530303, Progressive dementia with neuroserpin inclusion bodies |
PharmGKBi | PA35511 |
VEuPathDBi | HostDB:ENSG00000163536 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2392, Eukaryota |
GeneTreei | ENSGT00940000158168 |
HOGENOMi | CLU_023330_0_4_1 |
InParanoidi | Q99574 |
OMAi | KDVWRGL |
OrthoDBi | 1124079at2759 |
PhylomeDBi | Q99574 |
TreeFami | TF352620 |
Enzyme and pathway databases
PathwayCommonsi | Q99574 |
SignaLinki | Q99574 |
Miscellaneous databases
BioGRID-ORCSi | 5274, 14 hits in 1076 CRISPR screens |
EvolutionaryTracei | Q99574 |
GeneWikii | SERPINI1 |
GenomeRNAii | 5274 |
Pharosi | Q99574, Tbio |
PROi | PR:Q99574 |
RNActi | Q99574, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000163536, Expressed in substantia nigra and 239 other tissues |
ExpressionAtlasi | Q99574, baseline and differential |
Genevisiblei | Q99574, HS |
Family and domain databases
Gene3Di | 2.30.39.10, 1 hit 3.30.497.10, 1 hit |
InterProi | View protein in InterPro IPR023795, Serpin_CS IPR023796, Serpin_dom IPR000215, Serpin_fam IPR036186, Serpin_sf IPR042178, Serpin_sf_1 IPR042185, Serpin_sf_2 |
PANTHERi | PTHR11461, PTHR11461, 1 hit |
Pfami | View protein in Pfam PF00079, Serpin, 1 hit |
SMARTi | View protein in SMART SM00093, SERPIN, 1 hit |
SUPFAMi | SSF56574, SSF56574, 1 hit |
PROSITEi | View protein in PROSITE PS00284, SERPIN, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | NEUS_HUMAN | |
Accessioni | Q99574Primary (citable) accession number: Q99574 Secondary accession number(s): A8K217, D3DNP1, Q6AHZ4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 15, 1998 |
Last sequence update: | May 1, 1997 | |
Last modified: | May 25, 2022 | |
This is version 183 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families