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Protein

Neuroserpin

Gene

SERPINI1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei362 – 363Reactive bond1 Publication1 Publication2

GO - Molecular functioni

  • serine-type endopeptidase inhibitor activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionProtease inhibitor, Serine protease inhibitor

Protein family/group databases

MEROPSiI04.025

Names & Taxonomyi

Protein namesi
Recommended name:
Neuroserpin
Alternative name(s):
Peptidase inhibitor 12
Short name:
PI-12
Serpin I1
Gene namesi
Name:SERPINI1
Synonyms:PI12
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000163536.12
HGNCiHGNC:8943 SERPINI1
MIMi602445 gene
neXtProtiNX_Q99574

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasmic vesicle, Secreted

Pathology & Biotechi

Involvement in diseasei

Encephalopathy, familial, with neuroserpin inclusion bodies (FENIB)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neurodegenerative disease clinically characterized by dementia. Additional features include intellectual decline, psychic seizures, progressive myoclonic epilepsy, and cerebral atrophy. Histologically, it is characterized by the presence of eosinophilic inclusion bodies (called Collins bodies) throughout the deeper layers of the cerebral cortex, leading to neuronal death.
See also OMIM:604218
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00852049S → 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_00852152S → R in FENIB; Portland. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi161N → G: Increases protein stability and abolishes tendency to form polymers. No effect on inhibitory activity. 1 Publication1
Mutagenesisi162L → K: Increases protein stability and abolishes tendency to form polymers. No effect on inhibitory activity. 1 Publication1
Mutagenesisi163V → I: Increases protein stability and decreases tendency to form polymers. No effect on inhibitory activity. 1 Publication1
Mutagenesisi289E → A: Slightly decreases inhibitory activity. No effect on thermal stability. 1 Publication1
Mutagenesisi340S → A: Increases protein stability and decreases tendency to form polymers. No effect on inhibitory activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Neurodegeneration

Organism-specific databases

DisGeNETi5274
MalaCardsiSERPINI1
MIMi604218 phenotype
OpenTargetsiENSG00000163536
Orphaneti85110 Familial encephalopathy with neuroserpin inclusion bodies
PharmGKBiPA35511

Polymorphism and mutation databases

BioMutaiSERPINI1
DMDMi3183087

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 16Sequence analysisAdd BLAST16
ChainiPRO_000003252117 – 410NeuroserpinAdd BLAST394

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi157N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi321N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi401N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ99574
MaxQBiQ99574
PaxDbiQ99574
PeptideAtlasiQ99574
PRIDEiQ99574
ProteomicsDBi78333

PTM databases

GlyConnecti1559
iPTMnetiQ99574
PhosphoSitePlusiQ99574

Miscellaneous databases

PMAP-CutDBiQ99574

Expressioni

Tissue specificityi

Detected in brain cortex and hippocampus pyramidal neurons (at protein level) (PubMed:17040209). Predominantly expressed in the brain (PubMed:9070919).2 Publications

Gene expression databases

BgeeiENSG00000163536 Expressed in 230 organ(s), highest expression level in substantia nigra
CleanExiHS_SERPINI1
ExpressionAtlasiQ99574 baseline and differential
GenevisibleiQ99574 HS

Organism-specific databases

HPAiCAB026059
HPA001565
HPA056092

Interactioni

Subunit structurei

Monomer. Has a tendency to form large polymers already at 41 and 45 degrees Celsius (in vitro).2 Publications

Protein-protein interaction databases

BioGridi111292, 3 interactors
IntActiQ99574, 1 interactor
STRINGi9606.ENSP00000295777

Structurei

Secondary structure

1410
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ99574
SMRiQ99574
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ99574

Family & Domainsi

Sequence similaritiesi

Belongs to the serpin family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG2392 Eukaryota
COG4826 LUCA
GeneTreeiENSGT00930000150820
HOGENOMiHOG000238519
HOVERGENiHBG005957
InParanoidiQ99574
OMAiKDFSNMV
OrthoDBiEOG091G0ION
PhylomeDBiQ99574
TreeFamiTF352620

Family and domain databases

InterProiView protein in InterPro
IPR023795 Serpin_CS
IPR023796 Serpin_dom
IPR000215 Serpin_fam
IPR036186 Serpin_sf
PANTHERiPTHR11461 PTHR11461, 1 hit
PfamiView protein in Pfam
PF00079 Serpin, 1 hit
SMARTiView protein in SMART
SM00093 SERPIN, 1 hit
SUPFAMiSSF56574 SSF56574, 1 hit
PROSITEiView protein in PROSITE
PS00284 SERPIN, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

Q99574-1 [UniParc]FASTAAdd to basket
« Hide
        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
Length:410
Mass (Da):46,427
Last modified:May 1, 1997 - v1
Checksum:iD966E9036BB21943
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JDY5C9JDY5_HUMAN
Neuroserpin
SERPINI1
245Annotation score:
C9JQU8C9JQU8_HUMAN
Neuroserpin
SERPINI1
160Annotation score:
H7C5T9H7C5T9_HUMAN
Neuroserpin
SERPINI1
119Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti70K → E in AAH18043 (PubMed:15489334).Curated1
Sequence conflicti326S → Y in AAH18043 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00852049S → 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_00852152S → R in FENIB; Portland. 1 Publication1

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
CCDSiCCDS3203.1
RefSeqiNP_001116224.1, NM_001122752.1
NP_005016.1, NM_005025.4
XP_016862107.1, XM_017006618.1
UniGeneiHs.478153

Genome annotation databases

EnsembliENST00000295777; ENSP00000295777; ENSG00000163536
ENST00000446050; ENSP00000397373; ENSG00000163536
GeneIDi5274
KEGGihsa:5274
UCSCiuc003ffa.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
CCDSiCCDS3203.1
RefSeqiNP_001116224.1, NM_001122752.1
NP_005016.1, NM_005025.4
XP_016862107.1, XM_017006618.1
UniGeneiHs.478153

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3F02X-ray1.80A/B17-362[»]
C/D363-410[»]
3F5NX-ray3.15A/B/C/D/E17-410[»]
3FGQX-ray2.09A/B17-400[»]
ProteinModelPortaliQ99574
SMRiQ99574
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111292, 3 interactors
IntActiQ99574, 1 interactor
STRINGi9606.ENSP00000295777

Protein family/group databases

MEROPSiI04.025

PTM databases

GlyConnecti1559
iPTMnetiQ99574
PhosphoSitePlusiQ99574

Polymorphism and mutation databases

BioMutaiSERPINI1
DMDMi3183087

Proteomic databases

EPDiQ99574
MaxQBiQ99574
PaxDbiQ99574
PeptideAtlasiQ99574
PRIDEiQ99574
ProteomicsDBi78333

Protocols and materials databases

DNASUi5274
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000295777; ENSP00000295777; ENSG00000163536
ENST00000446050; ENSP00000397373; ENSG00000163536
GeneIDi5274
KEGGihsa:5274
UCSCiuc003ffa.5 human

Organism-specific databases

CTDi5274
DisGeNETi5274
EuPathDBiHostDB:ENSG00000163536.12
GeneCardsiSERPINI1
HGNCiHGNC:8943 SERPINI1
HPAiCAB026059
HPA001565
HPA056092
MalaCardsiSERPINI1
MIMi602445 gene
604218 phenotype
neXtProtiNX_Q99574
OpenTargetsiENSG00000163536
Orphaneti85110 Familial encephalopathy with neuroserpin inclusion bodies
PharmGKBiPA35511
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2392 Eukaryota
COG4826 LUCA
GeneTreeiENSGT00930000150820
HOGENOMiHOG000238519
HOVERGENiHBG005957
InParanoidiQ99574
OMAiKDFSNMV
OrthoDBiEOG091G0ION
PhylomeDBiQ99574
TreeFamiTF352620

Miscellaneous databases

ChiTaRSiSERPINI1 human
EvolutionaryTraceiQ99574
GeneWikiiSERPINI1
GenomeRNAii5274
PMAP-CutDBiQ99574
PROiPR:Q99574
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000163536 Expressed in 230 organ(s), highest expression level in substantia nigra
CleanExiHS_SERPINI1
ExpressionAtlasiQ99574 baseline and differential
GenevisibleiQ99574 HS

Family and domain databases

InterProiView protein in InterPro
IPR023795 Serpin_CS
IPR023796 Serpin_dom
IPR000215 Serpin_fam
IPR036186 Serpin_sf
PANTHERiPTHR11461 PTHR11461, 1 hit
PfamiView protein in Pfam
PF00079 Serpin, 1 hit
SMARTiView protein in SMART
SM00093 SERPIN, 1 hit
SUPFAMiSSF56574 SSF56574, 1 hit
PROSITEiView protein in PROSITE
PS00284 SERPIN, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiNEUS_HUMAN
AccessioniPrimary (citable) accession number: Q99574
Secondary accession number(s): A8K217, D3DNP1, Q6AHZ4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: May 1, 1997
Last modified: November 7, 2018
This is version 163 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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