LOCUS       NM_000295               3006 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens serpin family A member 1 (SERPINA1), transcript
            variant 1, mRNA.
ACCESSION   NM_000295
VERSION     NM_000295.5
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 3006)
  AUTHORS   Meseeha,M., Sankari,A. and Attia,M.
  TITLE     Alpha-1 Antitrypsin Deficiency
  JOURNAL   (in) ? (Ed.);
            STATPEARLS;
            (2025)
   PUBMED   28723059
REFERENCE   2  (bases 1 to 3006)
  AUTHORS   Poluzioroviene,E., Chorostowska-Wynimko,J., Petraitiene,S.,
            Strumila,A., Rozy,A., Zdral,A. and Valiulis,A.
  TITLE     Prevalence of Alpha-1 Antitrypsin Deficiency Alleles in a
            Lithuanian Cohort of Wheezing Small Children
  JOURNAL   Adv Respir Med 92 (4), 291-299 (2024)
   PUBMED   39194420
  REMARK    GeneRIF: Prevalence of Alpha-1 Antitrypsin Deficiency Alleles in a
            Lithuanian Cohort of Wheezing Small Children.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3006)
  AUTHORS   Bai,X., Gao,J., Guan,X., Narum,D.E., Fornis,L.B., Griffith,D.E.,
            Gao,B., Sandhaus,R.A., Huang,H. and Chan,E.D.
  TITLE     Analysis of alpha-1-antitrypsin (AAT)-regulated, glucocorticoid
            receptor-dependent genes in macrophages reveals a novel host
            defense function of AAT
  JOURNAL   Physiol Rep 12 (14), e16124 (2024)
   PUBMED   39016119
  REMARK    GeneRIF: Analysis of alpha-1-antitrypsin (AAT)-regulated,
            glucocorticoid receptor-dependent genes in macrophages reveals a
            novel host defense function of AAT.
REFERENCE   4  (bases 1 to 3006)
  AUTHORS   Sarrou,S., Voulgaridi,I., Fousika,A., Dadouli,K.,
            Margaritopoulou,O., Kakkas,I., Hadjichristodoulou,C., Kalala,F. and
            Speletas,M.
  TITLE     Heterozygous SERPINA1 Defects and Their Impact on Clinical
            Manifestations of Patients with Predominantly Antibody Deficiencies
  JOURNAL   Int J Mol Sci 25 (10), 5382 (2024)
   PUBMED   38791420
  REMARK    GeneRIF: Heterozygous SERPINA1 Defects and Their Impact on Clinical
            Manifestations of Patients with Predominantly Antibody
            Deficiencies.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3006)
  AUTHORS   Manne,V. and Kowdley,K.V.
  TITLE     Alpha1-Antitrypsin Deficiency: A Cause of Chronic Liver Disease
  JOURNAL   Clin Liver Dis 24 (3), 483-492 (2020)
   PUBMED   32620284
  REMARK    Review article
REFERENCE   6  (bases 1 to 3006)
  AUTHORS   Cortes-Lopez,R. and Barjaktarevic,I.
  TITLE     Alpha-1 Antitrypsin Deficiency: a Rare Disease?
  JOURNAL   Curr Allergy Asthma Rep 20 (9), 51 (2020)
   PUBMED   32572624
  REMARK    Review article
            Erratum:[Curr Allergy Asthma Rep. 2020 Sep 12;20(11):71. doi:
            10.1007/s11882-020-00966-w.. PMID: 32918642]
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 3006)
  AUTHORS   Stoller,J.K., Hupertz,V. and Aboussouan,L.S.
  TITLE     Alpha-1 Antitrypsin Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301692
REFERENCE   8  (bases 1 to 3006)
  AUTHORS   Niemann,M.A., Narkates,A.J. and Miller,E.J.
  TITLE     Isolation and serine protease inhibitory activity of the
            44-residue, C-terminal fragment of alpha 1-antitrypsin from human
            placenta
  JOURNAL   Matrix 12 (3), 233-241 (1992)
   PUBMED   1406456
REFERENCE   9  (bases 1 to 3006)
  AUTHORS   Nachman,R.L. and Harpel,P.C.
  TITLE     Platelet alpha2-macroglobulin and alpha1-antitrypsin
  JOURNAL   J Biol Chem 251 (15), 4512-4521 (1976)
   PUBMED   59727
REFERENCE   10 (bases 1 to 3006)
  AUTHORS   Cohen,A.B.
  TITLE     The interaction of alpha-1-antitrypsin with chymotrypsin, trypsin
            and elastase
  JOURNAL   Biochim Biophys Acta 391 (1), 193-200 (1975)
   PUBMED   1079736
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA966896.1, AK026174.1 and
            AL132708.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_000295.4.
            
            Summary: The protein encoded by this gene is a serine protease
            inhibitor belonging to the serpin superfamily whose targets include
            elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen
            activator. This protein is produced in the liver, the bone marrow,
            by lymphocytic and monocytic cells in lymphoid tissue, and by the
            Paneth cells of the gut. Defects in this gene are associated with
            chronic obstructive pulmonary disease, emphysema, and chronic liver
            disease. Several transcript variants encoding the same protein have
            been found for this gene. [provided by RefSeq, Aug 2020].
            
            Transcript Variant: This variant (1) encodes the same protein as
            the other ten variants of this gene.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            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 :: SRR5189664.14457.1,
                                           SRR5189664.74771.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000393087.9/ ENSP00000376802.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-351               DA966896.1         215-565
            352-1380            AK026174.1         348-1376
            1381-3006           AL132708.3         138281-139906
FEATURES             Location/Qualifiers
     source          1..3006
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.13"
     gene            1..3006
                     /gene="SERPINA1"
                     /gene_synonym="A1A; A1AT; AAT; alpha1AT; nNIF; PI; PI1;
                     PRO2275"
                     /note="serpin family A member 1"
                     /db_xref="GeneID:5265"
                     /db_xref="HGNC:HGNC:8941"
                     /db_xref="MIM:107400"
     exon            1..43
                     /gene="SERPINA1"
                     /gene_synonym="A1A; A1AT; AAT; alpha1AT; nNIF; PI; PI1;
                     PRO2275"
                     /inference="alignment:Splign:2.1.0"
     exon            44..693
                     /gene="SERPINA1"
                     /gene_synonym="A1A; A1AT; AAT; alpha1AT; nNIF; PI; PI1;
                     PRO2275"
                     /inference="alignment:Splign:2.1.0"
     CDS             48..1304
                     /gene="SERPINA1"
                     /gene_synonym="A1A; A1AT; AAT; alpha1AT; nNIF; PI; PI1;
                     PRO2275"
                     /note="protease inhibitor 1 (anti-elastase),
                     alpha-1-antitrypsin; serpin peptidase inhibitor, clade A
                     (alpha-1 antiproteinase, antitrypsin), member 1; alpha-1
                     antitrypsin; serine (or cysteine) proteinase inhibitor,
                     clade A, member 1; alpha-1 proteinase inhibitor; serpin
                     A1; epididymis secretory sperm binding protein;
                     alpha-1-antiproteinase; alpha-1 protease inhibitor; serpin
                     peptidase inhibitor clade A member 1; serpin peptidase
                     inhibitor clade A (alpha-1antiproteinase, antitrypsin)
                     member 1"
                     /codon_start=1
                     /product="alpha-1-antitrypsin precursor"
                     /protein_id="NP_000286.3"
                     /db_xref="CCDS:CCDS9925.1"
                     /db_xref="GeneID:5265"
                     /db_xref="HGNC:HGNC:8941"
                     /db_xref="MIM:107400"
                     /translation="MPSSVSWGILLLAGLCCLVPVSLAEDPQGDAAQKTDTSHHDQDH
                     PTFNKITPNLAEFAFSLYRQLAHQSNSTNIFFSPVSIATAFAMLSLGTKADTHDEILE
                     GLNFNLTEIPEAQIHEGFQELLRTLNQPDSQLQLTTGNGLFLSEGLKLVDKFLEDVKK
                     LYHSEAFTVNFGDTEEAKKQINDYVEKGTQGKIVDLVKELDRDTVFALVNYIFFKGKW
                     ERPFEVKDTEEEDFHVDQVTTVKVPMMKRLGMFNIQHCKKLSSWVLLMKYLGNATAIF
                     FLPDEGKLQHLENELTHDIITKFLENEDRRSASLHLPKLSITGTYDLKSVLGQLGITK
                     VFSNGADLSGVTEEAPLKLSKAVHKAVLTIDEKGTEAAGAMFLEAIPMSIPPEVKFNK
                     PFVFLMIEQNTKSPLFMGKVVNPTQK"
     exon            694..964
                     /gene="SERPINA1"
                     /gene_synonym="A1A; A1AT; AAT; alpha1AT; nNIF; PI; PI1;
                     PRO2275"
                     /inference="alignment:Splign:2.1.0"
     exon            965..1112
                     /gene="SERPINA1"
                     /gene_synonym="A1A; A1AT; AAT; alpha1AT; nNIF; PI; PI1;
                     PRO2275"
                     /inference="alignment:Splign:2.1.0"
     exon            1113..3006
                     /gene="SERPINA1"
                     /gene_synonym="A1A; A1AT; AAT; alpha1AT; nNIF; PI; PI1;
                     PRO2275"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1360..1365
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPINA1"
                     /gene_synonym="A1A; A1AT; AAT; alpha1AT; nNIF; PI; PI1;
                     PRO2275"
                     /note="hexamer: ATTAAA"
     polyA_site      1380
                     /gene="SERPINA1"
                     /gene_synonym="A1A; A1AT; AAT; alpha1AT; nNIF; PI; PI1;
                     PRO2275"
                     /note="major polyA site"
     regulatory      2982..2987
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPINA1"
                     /gene_synonym="A1A; A1AT; AAT; alpha1AT; nNIF; PI; PI1;
                     PRO2275"
                     /note="hexamer: AATAAA"
     polyA_site      3006
                     /gene="SERPINA1"
                     /gene_synonym="A1A; A1AT; AAT; alpha1AT; nNIF; PI; PI1;
                     PRO2275"
ORIGIN      
        1 ctcctcagct tcaggcacca ccactgacct gggacagtga atcgacaatg ccgtcttctg
       61 tctcgtgggg catcctcctg ctggcaggcc tgtgctgcct ggtccctgtc tccctggctg
      121 aggatcccca gggagatgct gcccagaaga cagatacatc ccaccatgat caggatcacc
      181 caaccttcaa caagatcacc cccaacctgg ctgagttcgc cttcagccta taccgccagc
      241 tggcacacca gtccaacagc accaatatct tcttctcccc agtgagcatc gctacagcct
      301 ttgcaatgct ctccctgggg accaaggctg acactcacga tgaaatcctg gagggcctga
      361 atttcaacct cacggagatt ccggaggctc agatccatga aggcttccag gaactcctcc
      421 gtaccctcaa ccagccagac agccagctcc agctgaccac cggcaatggc ctgttcctca
      481 gcgagggcct gaagctagtg gataagtttt tggaggatgt taaaaagttg taccactcag
      541 aagccttcac tgtcaacttc ggggacaccg aagaggccaa gaaacagatc aacgattacg
      601 tggagaaggg tactcaaggg aaaattgtgg atttggtcaa ggagcttgac agagacacag
      661 tttttgctct ggtgaattac atcttcttta aaggcaaatg ggagagaccc tttgaagtca
      721 aggacaccga ggaagaggac ttccacgtgg accaggtgac caccgtgaag gtgcctatga
      781 tgaagcgttt aggcatgttt aacatccagc actgtaagaa gctgtccagc tgggtgctgc
      841 tgatgaaata cctgggcaat gccaccgcca tcttcttcct gcctgatgag gggaaactac
      901 agcacctgga aaatgaactc acccacgata tcatcaccaa gttcctggaa aatgaagaca
      961 gaaggtctgc cagcttacat ttacccaaac tgtccattac tggaacctat gatctgaaga
     1021 gcgtcctggg tcaactgggc atcactaagg tcttcagcaa tggggctgac ctctccgggg
     1081 tcacagagga ggcacccctg aagctctcca aggccgtgca taaggctgtg ctgaccatcg
     1141 acgagaaagg gactgaagct gctggggcca tgtttttaga ggccataccc atgtctatcc
     1201 cccccgaggt caagttcaac aaaccctttg tcttcttaat gattgaacaa aataccaagt
     1261 ctcccctctt catgggaaaa gtggtgaatc ccacccaaaa ataactgcct ctcgctcctc
     1321 aacccctccc ctccatccct ggccccctcc ctggatgaca ttaaagaagg gttgagctgg
     1381 tccctgcctg catgtgactg taaatccctc ccatgttttc tctgagtctc cctttgcctg
     1441 ctgaggctgt atgtgggctc caggtaacag tgctgtcttc gggccccctg aactgtgttc
     1501 atggagcatc tggctgggta ggcacatgct gggcttgaat ccagggggga ctgaatcctc
     1561 agcttacgga cctgggccca tctgtttctg gagggctcca gtcttccttg tcctgtcttg
     1621 gagtccccaa gaaggaatca caggggagga accagatacc agccatgacc ccaggctcca
     1681 ccaagcatct tcatgtcccc ctgctcatcc cccactcccc cccacccaga gttgctcatc
     1741 ctgccagggc tggctgtgcc caccccaagg ctgccctcct gggggcccca gaactgcctg
     1801 atcgtgccgt ggcccagttt tgtggcatct gcagcaacac aagagagagg acaatgtcct
     1861 cctcttgacc cgctgtcacc taaccagact cgggccctgc acctctcagg cacttctgga
     1921 aaatgactga ggcagattct tcctgaagcc cattctccat ggggcaacaa ggacacctat
     1981 tctgtccttg tccttccatc gctgccccag aaagcctcac atatctccgt ttagaatcag
     2041 gtcccttctc cccagatgaa gaggagggtc tctgctttgt tttctctatc tcctcctcag
     2101 acttgaccag gcccagcagg ccccagaaga ccattaccct atatcccttc tcctccctag
     2161 tcacatggcc ataggcctgc tgatggctca ggaaggccat tgcaaggact cctcagctat
     2221 gggagaggaa gcacatcacc cattgacccc cgcaacccct ccctttcctc ctctgagtcc
     2281 cgactggggc cacatgcagc ctgacttctt tgtgcctgtt gctgtccctg cagtcttcag
     2341 agggccaccg cagctccagt gccacggcag gaggctgttc ctgaatagcc cctgtggtaa
     2401 gggccaggag agtccttcca tcctccaagg ccctgctaaa ggacacagca gccaggaagt
     2461 cccctgggcc cctagctgaa ggacagcctg ctccctccgt ctctaccagg aatggccttg
     2521 tcctatggaa ggcactgccc catcccaaac taatctagga atcactgtct aaccactcac
     2581 tgtcatgaat gtgtacttaa aggatgaggt tgagtcatac caaatagtga tttcgatagt
     2641 tcaaaatggt gaaattagca attctacatg attcagtcta atcaatggat accgactgtt
     2701 tcccacacaa gtctcctgtt ctcttaagct tactcactga cagcctttca ctctccacaa
     2761 atacattaaa gatatggcca tcaccaagcc ccctaggatg acaccagacc tgagagtctg
     2821 aagacctgga tccaagttct gacttttccc cctgacagct gtgtgacctt cgtgaagtcg
     2881 ccaaacctct ctgagcccca gtcattgcta gtaagacctg cctttgagtt ggtatgatgt
     2941 tcaagttaga taacaaaatg tttataccca ttagaacaga gaataaatag aactacattt
     3001 cttgca
//
