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Q99574

- NEUS_HUMAN

UniProt

Q99574 - NEUS_HUMAN

Protein

Neuroserpin

Gene

SERPINI1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 130 (01 Oct 2014)
      Sequence version 1 (01 May 1997)
      Previous versions | rss
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    Functioni

    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.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei362 – 3632Reactive bondBy similarity

    GO - Molecular functioni

    1. serine-type endopeptidase inhibitor activity Source: RefGenome

    GO - Biological processi

    1. cell death Source: UniProtKB-KW
    2. central nervous system development Source: ProtInc
    3. negative regulation of endopeptidase activity Source: RefGenome
    4. peripheral nervous system development Source: ProtInc
    5. regulation of cell adhesion Source: Ensembl
    6. regulation of proteolysis Source: RefGenome

    Keywords - Molecular functioni

    Protease 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
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:8943. SERPINI1.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular space Source: InterPro
    2. extracellular vesicular exosome Source: UniProt

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti49 – 491S → P in FENIB; Syracuse. 1 Publication
    VAR_008520
    Natural varianti52 – 521S → R in FENIB; Portland. 1 Publication
    VAR_008521

    Keywords - Diseasei

    Disease mutation, Neurodegeneration

    Organism-specific databases

    MIMi604218. phenotype.
    Orphaneti85110. Familial encephalopathy with neuroserpin inclusion bodies.
    PharmGKBiPA35511.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 1616Sequence AnalysisAdd
    BLAST
    Chaini17 – 410394NeuroserpinPRO_0000032521Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi157 – 1571N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi321 – 3211N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi401 – 4011N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ99574.
    PaxDbiQ99574.
    PRIDEiQ99574.

    PTM databases

    PhosphoSiteiQ99574.

    Miscellaneous databases

    PMAP-CutDBQ99574.

    Expressioni

    Tissue specificityi

    Predominantly expressed in the brain.

    Gene expression databases

    ArrayExpressiQ99574.
    BgeeiQ99574.
    CleanExiHS_SERPINI1.
    GenevestigatoriQ99574.

    Organism-specific databases

    HPAiCAB026059.
    HPA001565.

    Interactioni

    Protein-protein interaction databases

    BioGridi111292. 2 interactions.
    IntActiQ99574. 1 interaction.
    STRINGi9606.ENSP00000295777.

    Structurei

    Secondary structure

    1
    410
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi25 – 4016
    Beta strandi46 – 483
    Helixi50 – 6314
    Helixi66 – 7611
    Helixi86 – 916
    Turni101 – 1033
    Beta strandi105 – 11511
    Helixi122 – 13211
    Beta strandi135 – 1395
    Helixi144 – 15714
    Turni158 – 1614
    Helixi169 – 1713
    Beta strandi176 – 19217
    Helixi196 – 1983
    Beta strandi200 – 2056
    Beta strandi211 – 22919
    Beta strandi238 – 2469
    Beta strandi249 – 2579
    Helixi264 – 2674
    Helixi268 – 2703
    Helixi273 – 28210
    Beta strandi284 – 29310
    Beta strandi295 – 3028
    Helixi303 – 3108
    Helixi314 – 3163
    Turni323 – 3253
    Beta strandi331 – 34414
    Beta strandi346 – 36116
    Beta strandi369 – 3713
    Beta strandi376 – 3827
    Turni383 – 3853
    Beta strandi388 – 3958

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    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. Positions 22-400.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ99574.

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the serpin family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiCOG4826.
    HOGENOMiHOG000238519.
    HOVERGENiHBG005957.
    InParanoidiQ99574.
    OMAiMMKKYFN.
    PhylomeDBiQ99574.
    TreeFamiTF352620.

    Family and domain databases

    InterProiIPR023795. Serpin_CS.
    IPR023796. Serpin_dom.
    IPR000215. Serpin_fam.
    [Graphical view]
    PANTHERiPTHR11461. PTHR11461. 1 hit.
    PfamiPF00079. Serpin. 1 hit.
    [Graphical view]
    SMARTiSM00093. SERPIN. 1 hit.
    [Graphical view]
    SUPFAMiSSF56574. SSF56574. 1 hit.
    PROSITEiPS00284. SERPIN. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    Q99574-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAFLGLFSLL VLQSMATGAT FPEEAIADLS VNMYNRLRAT GEDENILFSP    50
    LSIALAMGMM ELGAQGSTQK EIRHSMGYDS LKNGEEFSFL KEFSNMVTAK 100
    ESQYVMKIAN SLFVQNGFHV NEEFLQMMKK YFNAAVNHVD FSQNVAVANY 150
    INKWVENNTN NLVKDLVSPR DFDAATYLAL INAVYFKGNW KSQFRPENTR 200
    TFSFTKDDES EVQIPMMYQQ GEFYYGEFSD GSNEAGGIYQ VLEIPYEGDE 250
    ISMMLVLSRQ EVPLATLEPL VKAQLVEEWA NSVKKQKVEV YLPRFTVEQE 300
    IDLKDVLKAL GITEIFIKDA NLTGLSDNKE IFLSKAIHKS FLEVNEEGSE 350
    AAAVSGMIAI SRMAVLYPQV IVDHPFFFLI RNRRTGTILF MGRVMHPETM 400
    NTSGHDFEEL 410
    Length:410
    Mass (Da):46,427
    Last modified:May 1, 1997 - v1
    Checksum:iD966E9036BB21943
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti70 – 701K → E in AAH18043. (PubMed:15489334)Curated
    Sequence conflicti326 – 3261S → Y in AAH18043. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti49 – 491S → P in FENIB; Syracuse. 1 Publication
    VAR_008520
    Natural varianti52 – 521S → R in FENIB; Portland. 1 Publication
    VAR_008521

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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_006713720.1. XM_006713657.1.
    UniGeneiHs.478153.

    Genome annotation databases

    EnsembliENST00000295777; ENSP00000295777; ENSG00000163536.
    ENST00000446050; ENSP00000397373; ENSG00000163536.
    GeneIDi5274.
    KEGGihsa:5274.
    UCSCiuc003ffa.4. human.

    Polymorphism databases

    DMDMi3183087.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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_006713720.1. XM_006713657.1.
    UniGenei Hs.478153.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    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 [» ]
    ProteinModelPortali Q99574.
    SMRi Q99574. Positions 22-400.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111292. 2 interactions.
    IntActi Q99574. 1 interaction.
    STRINGi 9606.ENSP00000295777.

    Protein family/group databases

    MEROPSi I04.025.

    PTM databases

    PhosphoSitei Q99574.

    Polymorphism databases

    DMDMi 3183087.

    Proteomic databases

    MaxQBi Q99574.
    PaxDbi Q99574.
    PRIDEi Q99574.

    Protocols and materials databases

    DNASUi 5274.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000295777 ; ENSP00000295777 ; ENSG00000163536 .
    ENST00000446050 ; ENSP00000397373 ; ENSG00000163536 .
    GeneIDi 5274.
    KEGGi hsa:5274.
    UCSCi uc003ffa.4. human.

    Organism-specific databases

    CTDi 5274.
    GeneCardsi GC03P167453.
    HGNCi HGNC:8943. SERPINI1.
    HPAi CAB026059.
    HPA001565.
    MIMi 602445. gene.
    604218. phenotype.
    neXtProti NX_Q99574.
    Orphaneti 85110. Familial encephalopathy with neuroserpin inclusion bodies.
    PharmGKBi PA35511.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG4826.
    HOGENOMi HOG000238519.
    HOVERGENi HBG005957.
    InParanoidi Q99574.
    OMAi MMKKYFN.
    PhylomeDBi Q99574.
    TreeFami TF352620.

    Miscellaneous databases

    EvolutionaryTracei Q99574.
    GeneWikii SERPINI1.
    GenomeRNAii 5274.
    NextBioi 20380.
    PMAP-CutDB Q99574.
    PROi Q99574.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q99574.
    Bgeei Q99574.
    CleanExi HS_SERPINI1.
    Genevestigatori Q99574.

    Family and domain databases

    InterProi IPR023795. Serpin_CS.
    IPR023796. Serpin_dom.
    IPR000215. Serpin_fam.
    [Graphical view ]
    PANTHERi PTHR11461. PTHR11461. 1 hit.
    Pfami PF00079. Serpin. 1 hit.
    [Graphical view ]
    SMARTi SM00093. SERPIN. 1 hit.
    [Graphical view ]
    SUPFAMi SSF56574. SSF56574. 1 hit.
    PROSITEi PS00284. SERPIN. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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.
      , 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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain cortex.
    5. 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. Cited for: VARIANTS FENIB PRO-49 AND ARG-52.

    Entry informationi

    Entry nameiNEUS_HUMAN
    AccessioniPrimary (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: October 1, 2014
    This is version 130 of the entry and version 1 of the sequence. [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. Human chromosome 3
      Human chromosome 3: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3