LOCUS       NM_001085               1576 bp    mRNA    linear   PRI 29-APR-2025
DEFINITION  Homo sapiens serpin family A member 3 (SERPINA3), transcript
            variant 1, mRNA.
ACCESSION   NM_001085
VERSION     NM_001085.5
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 1576)
  AUTHORS   Barter,M.J., Turner,D.A., Rice,S.J., Hines,M., Lin,H.,
            Falconer,A.M.D., McDonnell,E., Soul,J., Arques,M.D.C.,
            Europe-Finner,G.N., Rowan,A.D., Young,D.A. and Wilkinson,D.J.
  TITLE     SERPINA3 is a marker of cartilage differentiation and is essential
            for the expression of extracellular matrix genes during early
            chondrogenesis
  JOURNAL   Matrix Biol 133, 33-42 (2024)
   PUBMED   39097037
  REMARK    GeneRIF: SERPINA3 is a marker of cartilage differentiation and is
            essential for the expression of extracellular matrix genes during
            early chondrogenesis.
REFERENCE   2  (bases 1 to 1576)
  AUTHORS   Zhu,M., Lan,Z., Park,J., Gong,S., Wang,Y. and Guo,F.
  TITLE     Regulation of CNS pathology by Serpina3n/SERPINA3: The knowns and
            the puzzles
  JOURNAL   Neuropathol Appl Neurobiol 50 (2), e12980 (2024)
   PUBMED   38647003
  REMARK    GeneRIF: Regulation of CNS pathology by Serpina3n/SERPINA3: The
            knowns and the puzzles.
            Review article
REFERENCE   3  (bases 1 to 1576)
  AUTHORS   Peng,S., Liang,W., Liu,Z., Ye,S., Peng,Z., Zhong,Z. and Ye,Q.
  TITLE     Hypothermic machine perfusion reduces donation after circulatory
            death liver ischemia-reperfusion injury through the
            SERPINA3-mediated PI3Kdelta/Akt pathway
  JOURNAL   Hum Cell 37 (2), 420-434 (2024)
   PUBMED   38133876
  REMARK    GeneRIF: Hypothermic machine perfusion reduces donation after
            circulatory death liver ischemia-reperfusion injury through the
            SERPINA3-mediated PI3Kdelta/Akt pathway.
REFERENCE   4  (bases 1 to 1576)
  AUTHORS   Hu,X., Xiao,Z.S., Shen,Y.Q., Yang,W.S., Wang,P., Li,P.Z.,
            Wang,Z.J., Pu,M.J., Zhao,L.B., Xie,P. and Li,Q.
  TITLE     SERPINA3: A novel inflammatory biomarker associated with cerebral
            small vessel disease burden in ischemic stroke
  JOURNAL   CNS Neurosci Ther 30 (3), e14472 (2024)
   PUBMED   37721405
  REMARK    GeneRIF: SERPINA3: A novel inflammatory biomarker associated with
            cerebral small vessel disease burden in ischemic stroke.
REFERENCE   5  (bases 1 to 1576)
  AUTHORS   de Mezer,M., Markowska,A., Markowska,J., Krzyzaniak,M.,
            Grabarek,B.O., Pokusa,F. and Zurawski,J.
  TITLE     Immunohistochemical Expression of the SERPINA3 Protein in Uterine
            Fibroids
  JOURNAL   Curr Pharm Biotechnol 25 (13), 1758-1765 (2024)
   PUBMED   38204235
  REMARK    GeneRIF: Immunohistochemical Expression of the SERPINA3 Protein in
            Uterine Fibroids.
REFERENCE   6  (bases 1 to 1576)
  AUTHORS   Poller,W., Faber,J.P., Scholz,S., Weidinger,S., Bartholome,K.,
            Olek,K. and Eriksson,S.
  TITLE     Mis-sense mutation of alpha 1-antichymotrypsin gene associated with
            chronic lung disease
  JOURNAL   Lancet 339 (8808), 1538 (1992)
   PUBMED   1351206
REFERENCE   7  (bases 1 to 1576)
  AUTHORS   Tsuda,M., Sei,Y., Yamamura,M., Yamamoto,M. and Shinohara,Y.
  TITLE     Detection of a new mutant alpha-1-antichymotrypsin in patients with
            occlusive-cerebrovascular disease
  JOURNAL   FEBS Lett 304 (1), 66-68 (1992)
   PUBMED   1618300
REFERENCE   8  (bases 1 to 1576)
  AUTHORS   Desrochers,P.E., Mookhtiar,K., Van Wart,H.E., Hasty,K.A. and
            Weiss,S.J.
  TITLE     Proteolytic inactivation of alpha 1-proteinase inhibitor and alpha
            1-antichymotrypsin by oxidatively activated human neutrophil
            metalloproteinases
  JOURNAL   J Biol Chem 267 (7), 5005-5012 (1992)
   PUBMED   1311327
REFERENCE   9  (bases 1 to 1576)
  AUTHORS   Baumann,U., Huber,R., Bode,W., Grosse,D., Lesjak,M. and
            Laurell,C.B.
  TITLE     Crystal structure of cleaved human alpha 1-antichymotrypsin at 2.7
            A resolution and its comparison with other serpins
  JOURNAL   J Mol Biol 218 (3), 595-606 (1991)
   PUBMED   2016749
REFERENCE   10 (bases 1 to 1576)
  AUTHORS   Abraham,C.R., Shirahama,T. and Potter,H.
  TITLE     Alpha 1-antichymotrypsin is associated solely with amyloid deposits
            containing the beta-protein. Amyloid and cell localization of alpha
            1-antichymotrypsin
  JOURNAL   Neurobiol Aging 11 (2), 123-129 (1990)
   PUBMED   2190106
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA131576.1 and BC003559.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jul 10, 2019 this sequence version replaced NM_001085.4.
            
            Summary: The protein encoded by this gene is a member of the serpin
            family of proteins, a group of proteins that inhibit serine
            proteases. This gene is one in a cluster of serpin genes located on
            the q arm of chromosome 14. Polymorphisms in this protein appear to
            be tissue specific and influence protease targeting. Variations in
            this protein's sequence have been implicated in Alzheimer's
            disease, and deficiency of this protein has been associated with
            liver disease. Mutations have been identified in patients with
            Parkinson disease and chronic obstructive pulmonary disease.
            [provided by RefSeq, Jun 2020].
            
            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 :: BC003559.1, AY513275.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000393078.5/ ENSP00000376793.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-13                DA131576.1         3-15
            14-1576             BC003559.1         1-1563
FEATURES             Location/Qualifiers
     source          1..1576
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.13"
     gene            1..1576
                     /gene="SERPINA3"
                     /gene_synonym="AACT; ACT; GIG24; GIG25"
                     /note="serpin family A member 3"
                     /db_xref="GeneID:12"
                     /db_xref="HGNC:HGNC:16"
                     /db_xref="MIM:107280"
     exon            1..57
                     /gene="SERPINA3"
                     /gene_synonym="AACT; ACT; GIG24; GIG25"
                     /inference="alignment:Splign:2.1.0"
     exon            58..708
                     /gene="SERPINA3"
                     /gene_synonym="AACT; ACT; GIG24; GIG25"
                     /inference="alignment:Splign:2.1.0"
     CDS             66..1337
                     /gene="SERPINA3"
                     /gene_synonym="AACT; ACT; GIG24; GIG25"
                     /note="serine (or cysteine) proteinase inhibitor, clade A,
                     member 3; growth-inhibiting protein 24; growth-inhibiting
                     protein 25; serpin A3; serpin peptidase inhibitor, clade A
                     (alpha-1 antiproteinase, antitrypsin), member 3; cell
                     growth-inhibiting gene 24/25 protein;
                     alpha-1-antichymotrypsin"
                     /codon_start=1
                     /product="alpha-1-antichymotrypsin precursor"
                     /protein_id="NP_001076.2"
                     /db_xref="CCDS:CCDS32150.1"
                     /db_xref="GeneID:12"
                     /db_xref="HGNC:HGNC:16"
                     /db_xref="MIM:107280"
                     /translation="MERMLPLLALGLLAAGFCPAVLCHPNSPLDEENLTQENQDRGTH
                     VDLGLASANVDFAFSLYKQLVLKAPDKNVIFSPLSISTALAFLSLGAHNTTLTEILKG
                     LKFNLTETSEAEIHQSFQHLLRTLNQSSDELQLSMGNAMFVKEQLSLLDRFTEDAKRL
                     YGSEAFATDFQDSAAAKKLINDYVKNGTRGKITDLIKDLDSQTMMVLVNYIFFKAKWE
                     MPFDPQDTHQSRFYLSKKKWVMVPMMSLHHLTIPYFRDEELSCTVVELKYTGNASALF
                     ILPDQDKMEEVEAMLLPETLKRWRDSLEFREIGELYLPKFSISRDYNLNDILLQLGIE
                     EAFTSKADLSGITGARNLAVSQVVHKAVLDVFEEGTEASAATAVKITLLSALVETRTI
                     VRFNRPFLMIIVPTDTQNIFFMSKVTNPKQA"
     exon            709..982
                     /gene="SERPINA3"
                     /gene_synonym="AACT; ACT; GIG24; GIG25"
                     /inference="alignment:Splign:2.1.0"
     exon            983..1133
                     /gene="SERPINA3"
                     /gene_synonym="AACT; ACT; GIG24; GIG25"
                     /inference="alignment:Splign:2.1.0"
     exon            1134..1576
                     /gene="SERPINA3"
                     /gene_synonym="AACT; ACT; GIG24; GIG25"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1558..1563
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPINA3"
                     /gene_synonym="AACT; ACT; GIG24; GIG25"
                     /note="hexamer: AATAAA"
     polyA_site      1576
                     /gene="SERPINA3"
                     /gene_synonym="AACT; ACT; GIG24; GIG25"
                     /note="major polyA site"
ORIGIN      
        1 actactccag acagacggct ttggaatcca ccagctacat ccagctccct gaggcagagt
       61 tgagaatgga gagaatgtta cctctcctgg ctctggggct cttggcggct gggttctgcc
      121 ctgctgtcct ctgccaccct aacagcccac ttgacgagga gaatctgacc caggagaacc
      181 aagaccgagg gacacacgtg gacctcggat tagcctccgc caacgtggac ttcgctttca
      241 gcctgtacaa gcagttagtc ctgaaggccc ctgataagaa tgtcatcttc tccccactga
      301 gcatctccac cgccttggcc ttcctgtctc tgggggccca taataccacc ctgacagaga
      361 ttctcaaagg cctcaagttc aacctcacgg agacttctga ggcagaaatt caccagagct
      421 tccagcacct cctgcgcacc ctcaatcagt ccagcgatga gctgcagctg agtatgggaa
      481 atgccatgtt tgtcaaagag caactcagtc tgctggacag gttcacggag gatgccaaga
      541 ggctgtatgg ctccgaggcc tttgccactg actttcagga ctcagctgca gctaagaagc
      601 tcatcaacga ctacgtgaag aatggaacta gggggaaaat cacagatctg atcaaggacc
      661 ttgactcgca gacaatgatg gtcctggtga attacatctt ctttaaagcc aaatgggaga
      721 tgccctttga cccccaagat actcatcagt caaggttcta cttgagcaag aaaaagtggg
      781 taatggtgcc catgatgagt ttgcatcacc tgactatacc ttacttccgg gacgaggagc
      841 tgtcctgcac cgtggtggag ctgaagtaca caggcaatgc cagcgcactc ttcatcctcc
      901 ctgatcaaga caagatggag gaagtggaag ccatgctgct cccagagacc ctgaagcggt
      961 ggagagactc tctggagttc agagagatag gtgagctcta cctgccaaag ttttccatct
     1021 cgagggacta taacctgaac gacatacttc tccagctggg cattgaggaa gccttcacca
     1081 gcaaggctga cctgtcaggg atcacagggg ccaggaacct agcagtctcc caggtggtcc
     1141 ataaggctgt gcttgatgta tttgaggagg gcacagaagc atctgctgcc acagcagtca
     1201 aaatcaccct cctttctgca ttagtggaga caaggaccat tgtgcgtttc aacaggccct
     1261 tcctgatgat cattgtccct acagacaccc agaacatctt cttcatgagc aaagtcacca
     1321 atcccaagca agcctagagc ttgccatcaa gcagtggggc tctcagtaag gaacttggaa
     1381 tgcaagctgg atgcctgggt ctctgggcac agcctggccc ctgtgcaccg agtggccatg
     1441 gcatgtgtgg ccctgtctgc ttatccttgg aaggtgacag cgattccctg tgtagctctc
     1501 acatgcacag gggcccatgg actcttcagt ctggagggtc ctgggcctcc tgacagcaat
     1561 aaataatttc gttgga
//
