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Q99574 (NEUS_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 125. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Neuroserpin
Alternative name(s):
Peptidase inhibitor 12
Short name=PI-12
Serpin I1
Gene names
Name:SERPINI1
Synonyms:PI12
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length410 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Serine protease inhibitor that inhibits plasminogen activators and plasmin but not thrombin. 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.

Subcellular location

Secreted.

Tissue specificity

Predominantly expressed in the brain.

Involvement in disease

Encephalopathy, familial, with neuroserpin inclusion bodies (FENIB) [MIM:604218]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Sequence similarities

Belongs to the serpin family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1616 Potential
Chain17 – 410394Neuroserpin
PRO_0000032521

Sites

Site362 – 3632Reactive bond By similarity

Amino acid modifications

Glycosylation1571N-linked (GlcNAc...) Potential
Glycosylation3211N-linked (GlcNAc...) Potential
Glycosylation4011N-linked (GlcNAc...) Potential

Natural variations

Natural variant491S → P in FENIB; Syracuse. Ref.7
VAR_008520
Natural variant521S → R in FENIB; Portland. Ref.7
VAR_008521

Experimental info

Sequence conflict701K → E in AAH18043. Ref.6
Sequence conflict3261S → Y in AAH18043. Ref.6

Secondary structure

............................................................. 410
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Q99574 [UniParc].

Last modified May 1, 1997. Version 1.
Checksum: D966E9036BB21943

FASTA41046,427
        10         20         30         40         50         60 
MAFLGLFSLL VLQSMATGAT FPEEAIADLS VNMYNRLRAT GEDENILFSP LSIALAMGMM 

        70         80         90        100        110        120 
ELGAQGSTQK EIRHSMGYDS LKNGEEFSFL KEFSNMVTAK ESQYVMKIAN SLFVQNGFHV 

       130        140        150        160        170        180 
NEEFLQMMKK YFNAAVNHVD FSQNVAVANY INKWVENNTN NLVKDLVSPR DFDAATYLAL 

       190        200        210        220        230        240 
INAVYFKGNW KSQFRPENTR TFSFTKDDES EVQIPMMYQQ GEFYYGEFSD GSNEAGGIYQ 

       250        260        270        280        290        300 
VLEIPYEGDE ISMMLVLSRQ EVPLATLEPL VKAQLVEEWA NSVKKQKVEV YLPRFTVEQE 

       310        320        330        340        350        360 
IDLKDVLKAL GITEIFIKDA NLTGLSDNKE IFLSKAIHKS FLEVNEEGSE AAAVSGMIAI 

       370        380        390        400        410 
SRMAVLYPQV IVDHPFFFLI RNRRTGTILF MGRVMHPETM NTSGHDFEEL 

« Hide

References

« Hide 'large scale' references
[1]"Human neuroserpin (PI12): cDNA cloning and chromosomal localization to 3q26."
Schrimpf S.P., Bleiker A.J., Brecevic L., Kozlov S.V., Berger P., Osterwalder T., Krueger S.R., Schinzel A., Sonderegger P.
Genomics 40:55-62(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Retina.
[2]"Genomic organization of the human neuroserpin (PI12) gene."
Kinter J., Berger P., Kozlov S.V., Sonderegger P.
Submitted (MAR-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Subthalamic nucleus.
[4]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Brain cortex.
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Brain.
[7]"Familial dementia caused by polymerization of mutant neuroserpin."
Davis R.L., Shrimpton A.E., Holohan P.D., Bradshaw C., Feiglin D., Collins G.H., Sonderegger P., Kinter J., Becker L.M., Lacbawan F., Krasnewich D., Muenke M., Lawrence D.A., Yerby M.S., Shaw C.M., Gooptu B., Elliott P.R., Finch J.T., Carrell R.W., Lomas D.A.
Nature 401:376-379(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS FENIB PRO-49 AND ARG-52.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001116224.1. NM_001122752.1.
NP_005016.1. NM_005025.4.
UniGeneHs.478153.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
3F02X-ray1.80A/B17-362[»]
C/D363-410[»]
3F5NX-ray3.15A/B/C/D/E17-410[»]
3FGQX-ray2.09A/B17-400[»]
ProteinModelPortalQ99574.
SMRQ99574. Positions 22-400.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111292. 1 interaction.
IntActQ99574. 1 interaction.
STRING9606.ENSP00000295777.

Protein family/group databases

MEROPSI04.025.

PTM databases

PhosphoSiteQ99574.

Polymorphism databases

DMDM3183087.

Proteomic databases

PaxDbQ99574.
PRIDEQ99574.

Protocols and materials databases

DNASU5274.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000295777; ENSP00000295777; ENSG00000163536.
ENST00000446050; ENSP00000397373; ENSG00000163536.
GeneID5274.
KEGGhsa:5274.
UCSCuc003ffa.4. human.

Organism-specific databases

CTD5274.
GeneCardsGC03P167453.
HGNCHGNC:8943. SERPINI1.
HPACAB026059.
HPA001565.
MIM602445. gene.
604218. phenotype.
neXtProtNX_Q99574.
Orphanet85110. Familial encephalopathy with neuroserpin inclusion bodies.
PharmGKBPA35511.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG4826.
HOGENOMHOG000238519.
HOVERGENHBG005957.
InParanoidQ99574.
OMAFFFLIRN.
PhylomeDBQ99574.
TreeFamTF352620.

Gene expression databases

ArrayExpressQ99574.
BgeeQ99574.
CleanExHS_SERPINI1.
GenevestigatorQ99574.

Family and domain databases

InterProIPR023795. Serpin_CS.
IPR023796. Serpin_dom.
IPR000215. Serpin_fam.
[Graphical view]
PANTHERPTHR11461. PTHR11461. 1 hit.
PfamPF00079. Serpin. 1 hit.
[Graphical view]
SMARTSM00093. SERPIN. 1 hit.
[Graphical view]
SUPFAMSSF56574. SSF56574. 1 hit.
PROSITEPS00284. SERPIN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceQ99574.
GeneWikiSERPINI1.
GenomeRNAi5274.
NextBio20380.
PMAP-CutDBQ99574.
PROQ99574.
SOURCESearch...

Entry information

Entry nameNEUS_HUMAN
AccessionPrimary (citable) accession number: Q99574
Secondary accession number(s): A8K217, D3DNP1, Q6AHZ4
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: May 1, 1997
Last modified: April 16, 2014
This is version 125 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM