LOCUS       NM_005025               1912 bp    mRNA    linear   PRI 16-FEB-2024
DEFINITION  Homo sapiens serpin family I member 1 (SERPINI1), transcript
            variant 1, mRNA.
ACCESSION   NM_005025
VERSION     NM_005025.5
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1912)
  AUTHORS   Yang,X., Fang,Z., Yan,L., He,X., Luo,H., Han,Z., Gui,J., Cheng,M.
            and Jiang,L.
  TITLE     Role of SERPINI1 pathogenic variants in familial encephalopathy
            with neuroserpin inclusion bodies: A case report and literature
            review
  JOURNAL   Seizure 103, 137-147 (2022)
   PUBMED   36417830
  REMARK    GeneRIF: Role of SERPINI1 pathogenic variants in familial
            encephalopathy with neuroserpin inclusion bodies: A case report and
            literature review.
            Review article
REFERENCE   2  (bases 1 to 1912)
  AUTHORS   Fatima,S., Ansari,S., Bano,S., Ahamad,S., Ishqi,H.M., Tabish,M.,
            Gupta,D., Rehman,S.U. and Jairajpuri,M.A.
  TITLE     Detection of truncated isoforms of human neuroserpin lacking the
            reactive center loop: Implications in noninhibitory role
  JOURNAL   IUBMB Life 73 (7), 941-952 (2021)
   PUBMED   33893722
  REMARK    GeneRIF: Detection of truncated isoforms of human neuroserpin
            lacking the reactive center loop: Implications in noninhibitory
            role.
REFERENCE   3  (bases 1 to 1912)
  AUTHORS   Ansari,S., Ray,A., Ali,M.F., Bano,S. and Jairajpuri,M.A.
  TITLE     Contrasting conformational dynamics of beta-sheet A and helix F
            with implications in neuroserpin inhibition and aggregation
  JOURNAL   Int J Biol Macromol 176, 117-125 (2021)
   PUBMED   33516851
  REMARK    GeneRIF: Contrasting conformational dynamics of beta-sheet A and
            helix F with implications in neuroserpin inhibition and
            aggregation.
REFERENCE   4  (bases 1 to 1912)
  AUTHORS   Hermann,M., Reumann,R., Schostak,K., Kement,D., Gelderblom,M.,
            Bernreuther,C., Frischknecht,R., Schipanski,A., Marik,S.,
            Krasemann,S., Sepulveda-Falla,D., Schweizer,M., Magnus,T.,
            Glatzel,M. and Galliciotti,G.
  TITLE     Deficits in developmental neurogenesis and dendritic spine
            maturation in mice lacking the serine protease inhibitor
            neuroserpin
  JOURNAL   Mol Cell Neurosci 102, 103420 (2020)
   PUBMED   31805346
  REMARK    GeneRIF: Deficits in developmental neurogenesis and dendritic spine
            maturation in mice lacking the serine protease inhibitor
            neuroserpin.
REFERENCE   5  (bases 1 to 1912)
  AUTHORS   Cinar,R.K.
  TITLE     Neuroserpin in Bipolar Disorder
  JOURNAL   Curr Top Med Chem 20 (7), 518-523 (2020)
   PUBMED   32003693
  REMARK    GeneRIF: Neuroserpin in Bipolar Disorder.
REFERENCE   6  (bases 1 to 1912)
  AUTHORS   Chang,W.S., Chang,N.T., Lin,S.C., Wu,C.W. and Wu,F.Y.
  TITLE     Tissue-specific cancer-related serpin gene cluster at human
            chromosome band 3q26
  JOURNAL   Genes Chromosomes Cancer 29 (3), 240-255 (2000)
   PUBMED   10992299
REFERENCE   7  (bases 1 to 1912)
  AUTHORS   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. and Lomas,D.A.
  TITLE     Familial dementia caused by polymerization of mutant neuroserpin
  JOURNAL   Nature 401 (6751), 376-379 (1999)
   PUBMED   10517635
REFERENCE   8  (bases 1 to 1912)
  AUTHORS   Osterwalder,T., Cinelli,P., Baici,A., Pennella,A., Krueger,S.R.,
            Schrimpf,S.P., Meins,M. and Sonderegger,P.
  TITLE     The axonally secreted serine proteinase inhibitor, neuroserpin,
            inhibits plasminogen activators and plasmin but not thrombin
  JOURNAL   J Biol Chem 273 (4), 2312-2321 (1998)
   PUBMED   9442076
REFERENCE   9  (bases 1 to 1912)
  AUTHORS   Hastings,G.A., Coleman,T.A., Haudenschild,C.C., Stefansson,S.,
            Smith,E.P., Barthlow,R., Cherry,S., Sandkvist,M. and Lawrence,D.A.
  TITLE     Neuroserpin, a brain-associated inhibitor of tissue plasminogen
            activator is localized primarily in neurons. Implications for the
            regulation of motor learning and neuronal survival
  JOURNAL   J Biol Chem 272 (52), 33062-33067 (1997)
   PUBMED   9407089
REFERENCE   10 (bases 1 to 1912)
  AUTHORS   Schrimpf,S.P., Bleiker,A.J., Brecevic,L., Kozlov,S.V., Berger,P.,
            Osterwalder,T., Krueger,S.R., Schinzel,A. and Sonderegger,P.
  TITLE     Human neuroserpin (PI12): cDNA cloning and chromosomal localization
            to 3q26
  JOURNAL   Genomics 40 (1), 55-62 (1997)
   PUBMED   9070919
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC079822.13, DA270615.1,
            CR627434.1 and BQ086144.1.
            
            On Aug 13, 2020 this sequence version replaced NM_005025.4.
            
            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
            the regulation of axonal growth and the development of synaptic
            plasticity. Mutations in this gene result in familial
            encephalopathy with neuroserpin inclusion bodies (FENIB), which is
            a dominantly inherited form of familial encephalopathy and epilepsy
            characterized by the accumulation of mutant neuroserpin polymers.
            Multiple alternatively spliced variants, encoding the same protein,
            have been identified. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Variants 1 and 2 encode the same isoform.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: CR627434.1, SRR14038195.172354.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 AC079822.13        108660-108661
            3-14                DA270615.1         1-12
            15-534              CR627434.1         2-521
            535-535             AC079822.13        162169-162169
            536-1909            CR627434.1         523-1896
            1910-1912           BQ086144.1         177-179
FEATURES             Location/Qualifiers
     source          1..1912
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.1"
     gene            1..1912
                     /gene="SERPINI1"
                     /gene_synonym="HNS-S1; HNS-S2; neuroserpin; PI12"
                     /note="serpin family I member 1"
                     /db_xref="GeneID:5274"
                     /db_xref="HGNC:HGNC:8943"
                     /db_xref="MIM:602445"
     exon            1..415
                     /gene="SERPINI1"
                     /gene_synonym="HNS-S1; HNS-S2; neuroserpin; PI12"
                     /inference="alignment:Splign:2.1.0"
     exon            416..683
                     /gene="SERPINI1"
                     /gene_synonym="HNS-S1; HNS-S2; neuroserpin; PI12"
                     /inference="alignment:Splign:2.1.0"
     CDS             434..1666
                     /gene="SERPINI1"
                     /gene_synonym="HNS-S1; HNS-S2; neuroserpin; PI12"
                     /note="serine (or cysteine) proteinase inhibitor, clade I
                     (neuroserpin), member 1; PI-12; serpin I1; peptidase
                     inhibitor 12; serpin peptidase inhibitor clade I member 1;
                     serpin peptidase inhibitor, clade I (neuroserpin), member
                     1"
                     /codon_start=1
                     /product="neuroserpin precursor"
                     /protein_id="NP_005016.1"
                     /db_xref="CCDS:CCDS3203.1"
                     /db_xref="GeneID:5274"
                     /db_xref="HGNC:HGNC:8943"
                     /db_xref="MIM:602445"
                     /translation="MAFLGLFSLLVLQSMATGATFPEEAIADLSVNMYNRLRATGEDE
                     NILFSPLSIALAMGMMELGAQGSTQKEIRHSMGYDSLKNGEEFSFLKEFSNMVTAKES
                     QYVMKIANSLFVQNGFHVNEEFLQMMKKYFNAAVNHVDFSQNVAVANYINKWVENNTN
                     NLVKDLVSPRDFDAATYLALINAVYFKGNWKSQFRPENTRTFSFTKDDESEVQIPMMY
                     QQGEFYYGEFSDGSNEAGGIYQVLEIPYEGDEISMMLVLSRQEVPLATLEPLVKAQLV
                     EEWANSVKKQKVEVYLPRFTVEQEIDLKDVLKALGITEIFIKDANLTGLSDNKEIFLS
                     KAIHKSFLEVNEEGSEAAAVSGMIAISRMAVLYPQVIVDHPFFFLIRNRRTGTILFMG
                     RVMHPETMNTSGHDFEEL"
     exon            684..914
                     /gene="SERPINI1"
                     /gene_synonym="HNS-S1; HNS-S2; neuroserpin; PI12"
                     /inference="alignment:Splign:2.1.0"
     exon            915..1109
                     /gene="SERPINI1"
                     /gene_synonym="HNS-S1; HNS-S2; neuroserpin; PI12"
                     /inference="alignment:Splign:2.1.0"
     exon            1110..1314
                     /gene="SERPINI1"
                     /gene_synonym="HNS-S1; HNS-S2; neuroserpin; PI12"
                     /inference="alignment:Splign:2.1.0"
     exon            1315..1412
                     /gene="SERPINI1"
                     /gene_synonym="HNS-S1; HNS-S2; neuroserpin; PI12"
                     /inference="alignment:Splign:2.1.0"
     exon            1413..1499
                     /gene="SERPINI1"
                     /gene_synonym="HNS-S1; HNS-S2; neuroserpin; PI12"
                     /inference="alignment:Splign:2.1.0"
     exon            1500..1589
                     /gene="SERPINI1"
                     /gene_synonym="HNS-S1; HNS-S2; neuroserpin; PI12"
                     /inference="alignment:Splign:2.1.0"
     exon            1590..1912
                     /gene="SERPINI1"
                     /gene_synonym="HNS-S1; HNS-S2; neuroserpin; PI12"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1887..1892
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPINI1"
                     /gene_synonym="HNS-S1; HNS-S2; neuroserpin; PI12"
                     /note="hexamer: AATAAA"
     polyA_site      1912
                     /gene="SERPINI1"
                     /gene_synonym="HNS-S1; HNS-S2; neuroserpin; PI12"
                     /note="major polyA site"
ORIGIN      
        1 gtagtttccc gggagagacg aaagcaggaa cgagagcgga gcggagcaca gtccgccgag
       61 cacaagctcc agcatcccgt caggggttgc aggtgtgtgg gaggtaagcg tgggtccttc
      121 ttcggggcgt ctgcactgcc ctggagaaaa cgtcttccaa taggaattac atcaagacac
      181 agctaaaaga gtccgcgttg ggttaggaaa ccggtgcaaa acctctcggg tgaaagattt
      241 acatttttcg actttaaggg caaaaaagca aaaggaagct tgactctggg tataaagggc
      301 gtggttagtg tttttggttt gagttgcacc agtaaaactg ttctgggaga tctgaagatt
      361 gagaaaaatc ctgctaattg aggacgaggt ggatgttatc tggtggatgt tataggcttg
      421 aaactgttac aatatggctt tccttggact cttctctttg ctggttctgc aaagtatggc
      481 tacaggggcc actttccctg aggaagccat tgctgacttg tcagtgaata tgtataatcg
      541 tcttagagcc actggtgaag atgaaaatat tctcttctct ccattgagta ttgctcttgc
      601 aatgggaatg atggaacttg gggcccaagg atctacccag aaagaaatcc gccactcaat
      661 gggatatgac agcctaaaaa atggtgaaga attttctttc ttgaaggagt tttcaaacat
      721 ggtaactgct aaagagagcc aatatgtgat gaaaattgcc aattccttgt ttgtgcaaaa
      781 tggatttcat gtcaatgagg agtttttgca aatgatgaaa aaatatttta atgcagcagt
      841 aaatcatgtg gacttcagtc aaaatgtagc cgtggccaac tacatcaata agtgggtgga
      901 gaataacaca aacaatctgg tgaaagattt ggtatcccca agggattttg atgctgccac
      961 ttatctggcc ctcattaatg ctgtctattt caaggggaac tggaagtcgc agtttaggcc
     1021 tgaaaatact agaacctttt ctttcactaa agatgatgaa agtgaagtcc aaattccaat
     1081 gatgtatcag caaggagaat tttattatgg ggaatttagt gatggctcca atgaagctgg
     1141 tggtatctac caagtcctag aaataccata tgaaggagat gaaataagca tgatgctggt
     1201 gctgtccaga caggaagttc ctcttgctac tctggagcca ttagtcaaag cacagctggt
     1261 tgaagaatgg gcaaactctg tgaagaagca aaaagtagaa gtatacctgc ccaggttcac
     1321 agtggaacag gaaattgatt taaaagatgt tttgaaggct cttggaataa ctgaaatttt
     1381 catcaaagat gcaaatttga caggcctctc tgataataag gagatttttc tttccaaagc
     1441 aattcacaag tccttcctag aggttaatga agaaggctca gaagctgctg ctgtctcagg
     1501 aatgattgca attagtagga tggctgtgct gtatcctcaa gttattgtcg accatccatt
     1561 tttctttctt atcagaaaca ggagaactgg tacaattcta ttcatgggac gagtcatgca
     1621 tcctgaaaca atgaacacaa gtggacatga tttcgaagaa ctttaagtta ctttatttga
     1681 ataacaagga aaacagtaac taagcacatt atgtttgcaa ctggtatata tttaggattt
     1741 gtgttttaca gtatatctta agataatatt taaaatagtt ccagataaaa acaatatatg
     1801 taaattataa gtaacttgtc aaggaatgtt atcagtatta agctaatggt cctgttatgt
     1861 cattgtgttt gtgtgctgtt gtttaaaata aaagtaccta ttgaacatgt ga
//
