LOCUS       NM_009246               1442 bp    mRNA    linear   ROD 01-JUN-2024
DEFINITION  Mus musculus serine (or cysteine) peptidase inhibitor, clade A,
            member 1D (Serpina1d), mRNA.
ACCESSION   NM_009246 XM_003945662 XM_006535370 XM_011251485 XM_907428
VERSION     NM_009246.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 1442)
  AUTHORS   Volkert,I., Fromme,M., Schneider,C., Candels,L., Lindhauer,C.,
            Su,H., Thorhauge,K., Pons,M., Mohamed,M.R., Schneider,K.M.,
            Strnad,P. and Trautwein,C.
  TITLE     Impact of PNPLA3 I148M on alpha-1 antitrypsin deficiency-dependent
            liver disease progression
  JOURNAL   Hepatology 79 (4), 898-911 (2024)
   PUBMED   37625151
  REMARK    GeneRIF: Impact of PNPLA3 I148M on alpha-1 antitrypsin
            deficiency-dependent liver disease progression.
REFERENCE   2  (bases 1 to 1442)
  AUTHORS   Attanasio,S., Ferriero,R., Gernoux,G., De Cegli,R., Carissimo,A.,
            Nusco,E., Campione,S., Teckman,J., Mueller,C., Piccolo,P. and
            Brunetti-Pierri,N.
  TITLE     CHOP and c-JUN up-regulate the mutant Z alpha1-antitrypsin,
            exacerbating its aggregation and liver proteotoxicity
  JOURNAL   J Biol Chem 295 (38), 13213-13223 (2020)
   PUBMED   32723872
  REMARK    GeneRIF: CHOP and c-JUN up-regulate the mutant Z
            alpha1-antitrypsin, exacerbating its aggregation and liver
            proteotoxicity.
REFERENCE   3  (bases 1 to 1442)
  AUTHORS   Guldiken,N., Hamesch,K., Schuller,S.M., Aly,M., Lindhauer,C.,
            Schneider,C.V., Fromme,M., Trautwein,C. and Strnad,P.
  TITLE     Mild Iron Overload as Seen in Individuals Homozygous for the
            Alpha-1 Antitrypsin Pi*Z Variant Does Not Promote Liver
            Fibrogenesis in HFE Knockout Mice
  JOURNAL   Cells 8 (11), 1415 (2019)
   PUBMED   31717526
  REMARK    GeneRIF: Pi*ZZ individuals display minor alterations in serum iron
            parameters. Neither mild iron overload seen in these individuals
            nor the presence of HFE mutations (C282Y and H63D) constitute a
            major contributor to liver fibrosis development.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1442)
  AUTHORS   Khodayari,N., Oshins,R., Alli,A.A., Tuna,K.M., Holliday,L.S.,
            Krotova,K. and Brantly,M.
  TITLE     Modulation of calreticulin expression reveals a novel
            exosome-mediated mechanism of Z variant alpha1-antitrypsin disposal
  JOURNAL   J Biol Chem 294 (16), 6240-6252 (2019)
   PUBMED   30833329
  REMARK    GeneRIF: calreticulin modulation may eliminate the toxic gain of
            function associated with aggregation of ZAAT in lung and liver,
            thus providing a potential new therapeutic approach to the
            treatment of AATD-related liver disease.
REFERENCE   5  (bases 1 to 1442)
  AUTHORS   Heit,C., Jackson,B.C., McAndrews,M., Wright,M.W., Thompson,D.C.,
            Silverman,G.A., Nebert,D.W. and Vasiliou,V.
  TITLE     Update of the human and mouse SERPIN gene superfamily
  JOURNAL   Hum Genomics 7 (1), 22 (2013)
   PUBMED   24172014
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1442)
  AUTHORS   Barbour,K.W., Wei,F., Brannan,C., Flotte,T.R., Baumann,H. and
            Berger,F.G.
  TITLE     The murine alpha(1)-proteinase inhibitor gene family: polymorphism,
            chromosomal location, and structure
  JOURNAL   Genomics 80 (5), 515-522 (2002)
   PUBMED   12408969
REFERENCE   7  (bases 1 to 1442)
  AUTHORS   Barbour,K.W., Goodwin,R.L., Guillonneau,F., Wang,Y., Baumann,H. and
            Berger,F.G.
  TITLE     Functional diversification during evolution of the murine
            alpha(1)-proteinase inhibitor family: role of the hypervariable
            reactive center loop
  JOURNAL   Mol Biol Evol 19 (5), 718-727 (2002)
   PUBMED   11961105
REFERENCE   8  (bases 1 to 1442)
  AUTHORS   Tardiff,J. and Krauter,K.S.
  TITLE     Divergent expression of alpha1-protease inhibitor genes in mouse
            and human
  JOURNAL   Nucleic Acids Res 26 (16), 3794-3799 (1998)
   PUBMED   9685498
REFERENCE   9  (bases 1 to 1442)
  AUTHORS   Paterson,T. and Moore,S.
  TITLE     The expression and characterization of five recombinant murine
            alpha 1-protease inhibitor proteins
  JOURNAL   Biochem Biophys Res Commun 219 (1), 64-69 (1996)
   PUBMED   8619829
REFERENCE   10 (bases 1 to 1442)
  AUTHORS   Borriello,F. and Krauter,K.S.
  TITLE     Multiple murine alpha 1-protease inhibitor genes show unusual
            evolutionary divergence
  JOURNAL   Proc Natl Acad Sci U S A 88 (21), 9417-9421 (1991)
   PUBMED   1946354
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC098741.2, M75718.1 and AW110715.1.
            
            On or before Feb 15, 2015 this sequence version replaced
            XM_011251485.1, XM_006535370.1, XM_003945662.1, NM_009246.2.
            
            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 :: AK002537.1, M75718.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849386, SAMN01164135
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-59                AC098741.2         86262-86320
            60-1430             M75718.1           1-1371
            1431-1442           AW110715.1         1-12                c
FEATURES             Location/Qualifiers
     source          1..1442
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="12"
                     /map="12 52.98 cM"
     gene            1..1442
                     /gene="Serpina1d"
                     /gene_synonym="AAT; DOM-7; Dom1; Dom4; PI4; Serpina1a;
                     Spi1-1; Spi1-4"
                     /note="serine (or cysteine) peptidase inhibitor, clade A,
                     member 1D"
                     /db_xref="GeneID:20703"
                     /db_xref="MGI:MGI:891968"
     exon            1..103
                     /gene="Serpina1d"
                     /gene_synonym="AAT; DOM-7; Dom1; Dom4; PI4; Serpina1a;
                     Spi1-1; Spi1-4"
                     /inference="alignment:Splign:2.1.0"
     exon            104..735
                     /gene="Serpina1d"
                     /gene_synonym="AAT; DOM-7; Dom1; Dom4; PI4; Serpina1a;
                     Spi1-1; Spi1-4"
                     /inference="alignment:Splign:2.1.0"
     CDS             108..1349
                     /gene="Serpina1d"
                     /gene_synonym="AAT; DOM-7; Dom1; Dom4; PI4; Serpina1a;
                     Spi1-1; Spi1-4"
                     /note="serine (or cysteine) proteinase inhibitor, clade A,
                     member 1d; alpha-1-antitrypsin 1-4; alpha-1 protease
                     inhibitor 4; serine protease inhibitor A1d; serpin A1d;
                     Alpha-1-antitrypsin 1-1; Alpha-1 protease inhibitor 1;
                     Alpha-1-antiproteinase; Serine protease inhibitor 1-1;
                     Serine protease inhibitor A1a; Serpin A1a; serine protease
                     inhibitor 1-4; Serpina1 DOM-7"
                     /codon_start=1
                     /product="alpha-1-antitrypsin 1-4 precursor"
                     /protein_id="NP_033272.1"
                     /db_xref="CCDS:CCDS26139.1"
                     /db_xref="GeneID:20703"
                     /db_xref="MGI:MGI:891968"
                     /translation="MTPSISWSLLLLAGLCCLVPSFLAEDVQETDTSQKDQSPASHEI
                     ATNLGDFALRLYRELVHQSNTSNIFFSPVSIATAFAMLSLGSKGDTHTQILEGLQFNL
                     TQTSEADIHKSFQHLLQTLNRPDSELQLSTGNGLFVNNDLKLVEKFLEEAKNHYQAEV
                     FSVNFAESEEAKKVINDFVEKGTQGKIVEAVKKLDQDTVFALANYILFKGKWKQPFDP
                     ENTEEAEFHVDESTTVKVPMMTLSGMLDVHHCSMLSSWVLLMDYAGNTTAVFLLPDDG
                     KMQHLEQTLNKELISQFLLNRRRSDAQIHIPRLSISGNYNLKTLMSPLGITRIFNNGA
                     DLSGITEENAPLKLSKAVHKAVLTIDETGTEAAAATVLQVATYSMPPIVRFDHPFLFI
                     IFEEHTQSPIFVGKVVDPTHK"
     exon            736..1006
                     /gene="Serpina1d"
                     /gene_synonym="AAT; DOM-7; Dom1; Dom4; PI4; Serpina1a;
                     Spi1-1; Spi1-4"
                     /inference="alignment:Splign:2.1.0"
     exon            1007..1157
                     /gene="Serpina1d"
                     /gene_synonym="AAT; DOM-7; Dom1; Dom4; PI4; Serpina1a;
                     Spi1-1; Spi1-4"
                     /inference="alignment:Splign:2.1.0"
     exon            1158..1442
                     /gene="Serpina1d"
                     /gene_synonym="AAT; DOM-7; Dom1; Dom4; PI4; Serpina1a;
                     Spi1-1; Spi1-4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1341..1346
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Serpina1d"
                     /gene_synonym="AAT; DOM-7; Dom1; Dom4; PI4; Serpina1a;
                     Spi1-1; Spi1-4"
                     /note="hexamer: CATAAA"
     polyA_site      1358
                     /gene="Serpina1d"
                     /gene_synonym="AAT; DOM-7; Dom1; Dom4; PI4; Serpina1a;
                     Spi1-1; Spi1-4"
     regulatory      1393..1398
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Serpina1d"
                     /gene_synonym="AAT; DOM-7; Dom1; Dom4; PI4; Serpina1a;
                     Spi1-1; Spi1-4"
                     /note="hexamer: ATTAAA"
     polyA_site      1435
                     /gene="Serpina1d"
                     /gene_synonym="AAT; DOM-7; Dom1; Dom4; PI4; Serpina1a;
                     Spi1-1; Spi1-4"
                     /note="major polyA site"
ORIGIN      
        1 aaactcccgc atatccccct tggctcccac tgcttaaatt cagactagga cagggctctg
       61 tctcctcagc ctcggtcacc acccagttct gggacagcaa gctgaaaatg actccctcca
      121 tctcatggag tctgctgctt ctggcaggcc tgtgttgcct ggtccccagc tttctggctg
      181 aggatgttca ggagacagac acctcccaga aggatcagtc cccagcctcc catgagatcg
      241 ctacaaacct gggagacttt gccctcagac tatacaggga gctggtccat cagtccaaca
      301 cttccaacat cttcttctcc ccagtgagca ttgccacagc ctttgctatg ctctccctag
      361 ggagcaaggg tgacactcac acgcagatcc tagagggcct gcagttcaac ctcacacaaa
      421 catcggaggc tgacatccac aagtccttcc aacacctcct ccaaaccctc aacagaccag
      481 acagtgagct gcagctgagc acaggcaatg gcctctttgt caacaatgac ctgaagctgg
      541 tggagaagtt tctggaagag gccaagaacc attatcaggc agaagtcttc tctgtcaact
      601 ttgcagagtc agaggaggcc aagaaagtga ttaatgattt tgtggagaag ggaacccaag
      661 gaaagatagt tgaggcggtg aaaaaactgg accaagacac agttttcgcc ctggcgaatt
      721 acattctctt taaaggcaaa tggaaacagc cattcgatcc tgagaacact gaggaagctg
      781 agttccatgt ggacgagtcc accacagtga aggtgcccat gatgaccctc tcgggcatgc
      841 ttgatgtgca tcattgcagc atgctgtcca gctgggtgct gctgatggat tacgcaggca
      901 acaccactgc tgtcttcctc ctgcccgatg atgggaagat gcagcatctg gagcaaactc
      961 tcaacaagga gctcatctct cagttcctgc taaacaggcg cagaagcgat gctcagatcc
     1021 atatccccag actgtccatc tctggaaact ataacttgaa gacactcatg agtccactgg
     1081 gcatcacccg gatcttcaac aatggggctg acctctccgg aatcacagag gagaatgctc
     1141 ccctgaagct cagcaaggct gtgcataagg ctgtgctgac catcgatgag acaggaacag
     1201 aagctgcagc agctacagtc ttacaagtcg ctacttattc tatgccccct atcgtgcgct
     1261 tcgaccaccc tttccttttc ataatatttg aagaacacac tcagagcccc atctttgtgg
     1321 gaaaagtggt agatcccaca cataaatgac caccctaaga agtcatcctt ccttctgaat
     1381 tgggttccct tcattaaaca caggctagcc tggctcgtgc ctgatgctac tgcaagtcct
     1441 tg
//
