LOCUS       NM_001122752            1600 bp    mRNA    linear   PRI 15-FEB-2024
DEFINITION  Homo sapiens serpin family I member 1 (SERPINI1), transcript
            variant 2, mRNA.
ACCESSION   NM_001122752
VERSION     NM_001122752.2
KEYWORDS    RefSeq; MANE Select.
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 1600)
  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 1600)
  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 1600)
  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 1600)
  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 1600)
  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 1600)
  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 1600)
  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 1600)
  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 1600)
  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 1600)
  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 DA359846.1, BC018043.1,
            Z81326.1 and BQ086144.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 27, 2020 this sequence version replaced NM_001122752.1.
            
            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 (2) differs in the 5' UTR compared
            to variant 1. 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 :: AK290082.1, BC018043.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000446050.7/ ENSP00000397373.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-19                DA359846.1         78-96
            20-40               BC018043.1         18-38
            41-1599             Z81326.1           1-1559
            1600-1600           BQ086144.1         179-179
FEATURES             Location/Qualifiers
     source          1..1600
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.1"
     gene            1..1600
                     /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..103
                     /gene="SERPINI1"
                     /gene_synonym="HNS-S1; HNS-S2; neuroserpin; PI12"
                     /inference="alignment:Splign:2.1.0"
     exon            104..371
                     /gene="SERPINI1"
                     /gene_synonym="HNS-S1; HNS-S2; neuroserpin; PI12"
                     /inference="alignment:Splign:2.1.0"
     CDS             122..1354
                     /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_001116224.1"
                     /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            372..602
                     /gene="SERPINI1"
                     /gene_synonym="HNS-S1; HNS-S2; neuroserpin; PI12"
                     /inference="alignment:Splign:2.1.0"
     exon            603..797
                     /gene="SERPINI1"
                     /gene_synonym="HNS-S1; HNS-S2; neuroserpin; PI12"
                     /inference="alignment:Splign:2.1.0"
     exon            798..1002
                     /gene="SERPINI1"
                     /gene_synonym="HNS-S1; HNS-S2; neuroserpin; PI12"
                     /inference="alignment:Splign:2.1.0"
     exon            1003..1100
                     /gene="SERPINI1"
                     /gene_synonym="HNS-S1; HNS-S2; neuroserpin; PI12"
                     /inference="alignment:Splign:2.1.0"
     exon            1101..1187
                     /gene="SERPINI1"
                     /gene_synonym="HNS-S1; HNS-S2; neuroserpin; PI12"
                     /inference="alignment:Splign:2.1.0"
     exon            1188..1277
                     /gene="SERPINI1"
                     /gene_synonym="HNS-S1; HNS-S2; neuroserpin; PI12"
                     /inference="alignment:Splign:2.1.0"
     exon            1278..1600
                     /gene="SERPINI1"
                     /gene_synonym="HNS-S1; HNS-S2; neuroserpin; PI12"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1575..1580
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPINI1"
                     /gene_synonym="HNS-S1; HNS-S2; neuroserpin; PI12"
                     /note="hexamer: AATAAA"
     polyA_site      1600
                     /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 gaggcttgaa actgttacaa
      121 tatggctttc cttggactct tctctttgct ggttctgcaa agtatggcta caggggccac
      181 tttccctgag gaagccattg ctgacttgtc agtgaatatg tataatcgtc ttagagccac
      241 tggtgaagat gaaaatattc tcttctctcc attgagtatt gctcttgcaa tgggaatgat
      301 ggaacttggg gcccaaggat ctacccagaa agaaatccgc cactcaatgg gatatgacag
      361 cctaaaaaat ggtgaagaat tttctttctt gaaggagttt tcaaacatgg taactgctaa
      421 agagagccaa tatgtgatga aaattgccaa ttccttgttt gtgcaaaatg gatttcatgt
      481 caatgaggag tttttgcaaa tgatgaaaaa atattttaat gcagcagtaa atcatgtgga
      541 cttcagtcaa aatgtagccg tggccaacta catcaataag tgggtggaga ataacacaaa
      601 caatctggtg aaagatttgg tatccccaag ggattttgat gctgccactt atctggccct
      661 cattaatgct gtctatttca aggggaactg gaagtcgcag tttaggcctg aaaatactag
      721 aaccttttct ttcactaaag atgatgaaag tgaagtccaa attccaatga tgtatcagca
      781 aggagaattt tattatgggg aatttagtga tggctccaat gaagctggtg gtatctacca
      841 agtcctagaa ataccatatg aaggagatga aataagcatg atgctggtgc tgtccagaca
      901 ggaagttcct cttgctactc tggagccatt agtcaaagca cagctggttg aagaatgggc
      961 aaactctgtg aagaagcaaa aagtagaagt atacctgccc aggttcacag tggaacagga
     1021 aattgattta aaagatgttt tgaaggctct tggaataact gaaattttca tcaaagatgc
     1081 aaatttgaca ggcctctctg ataataagga gatttttctt tccaaagcaa ttcacaagtc
     1141 cttcctagag gttaatgaag aaggctcaga agctgctgct gtctcaggaa tgattgcaat
     1201 tagtaggatg gctgtgctgt atcctcaagt tattgtcgac catccatttt tctttcttat
     1261 cagaaacagg agaactggta caattctatt catgggacga gtcatgcatc ctgaaacaat
     1321 gaacacaagt ggacatgatt tcgaagaact ttaagttact ttatttgaat aacaaggaaa
     1381 acagtaacta agcacattat gtttgcaact ggtatatatt taggatttgt gttttacagt
     1441 atatcttaag ataatattta aaatagttcc agataaaaac aatatatgta aattataagt
     1501 aacttgtcaa ggaatgttat cagtattaag ctaatggtcc tgttatgtca ttgtgtttgt
     1561 gtgctgttgt ttaaaataaa agtacctatt gaacatgtga
//
