LOCUS       NM_000488               1552 bp    mRNA    linear   PRI 17-MAR-2024
DEFINITION  Homo sapiens serpin family C member 1 (SERPINC1), transcript
            variant 1, mRNA.
ACCESSION   NM_000488
VERSION     NM_000488.4
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 1552)
  AUTHORS   Chen,Y., Yao,Y., Li,T., Shu,K., Yang,X., Li,S., Wang,X., Wang,J.,
            Zhang,T. and Jiang,M.
  TITLE     [Phenotypic and genetic analysis of a Chinese pedigree affected
            with Hereditary antithrombin deficiency due to a novel variant of
            SERPINC1 gene]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 41 (3), 312-316 (2024)
   PUBMED   38448020
  REMARK    GeneRIF: [Phenotypic and genetic analysis of a Chinese pedigree
            affected with Hereditary antithrombin deficiency due to a novel
            variant of SERPINC1 gene].
REFERENCE   2  (bases 1 to 1552)
  AUTHORS   Zhang,K., Zhang,H., Yu,D., Pan,J., Wang,M. and Xie,H.
  TITLE     Clinical and functional characterization of rare compound
            heterozygous mutations in the SERPINC1 gene causing severe
            thrombophilia
  JOURNAL   Gene 897, 148085 (2024)
   PUBMED   38104950
  REMARK    GeneRIF: Clinical and functional characterization of rare compound
            heterozygous mutations in the SERPINC1 gene causing severe
            thrombophilia.
REFERENCE   3  (bases 1 to 1552)
  AUTHORS   Mir,N., D'Amico,A., Dasher,J., Tolwani,A. and Valentine,V.
  TITLE     Understanding the andromeda strain - The role of cytokine release,
            coagulopathy and antithrombin III in SARS-CoV2 critical illness
  JOURNAL   Blood Rev 45, 100731 (2021)
   PUBMED   32829961
  REMARK    GeneRIF: Understanding the andromeda strain - The role of cytokine
            release, coagulopathy and antithrombin III in SARS-CoV2 critical
            illness.
            Review article
REFERENCE   4  (bases 1 to 1552)
  AUTHORS   Corral,J., de la Morena-Barrio,M.E. and Vicente,V.
  TITLE     The genetics of antithrombin
  JOURNAL   Thromb Res 169, 23-29 (2018)
   PUBMED   30005274
  REMARK    GeneRIF: Molecular analysis may be the best method to identify
            antithrombin deficiency. Up to 80% of patients with antithrombin
            deficiency have SERPINC1 gene defects, mostly (90% of the 315 gene
            defects described so far) point mutations or small deletions or
            insertions affecting the 7 exons or flanking regions. [review]
            Review article
REFERENCE   5  (bases 1 to 1552)
  AUTHORS   Lu,Z., Wang,F. and Liang,M.
  TITLE     SerpinC1/Antithrombin III in kidney-related diseases
  JOURNAL   Clin Sci (Lond) 131 (9), 823-831 (2017)
   PUBMED   28424376
  REMARK    GeneRIF: Studies indicate that antithrombin III (ATIII) and its
            gene SerpinC1 may be related to many diseases, including
            hypertension and kidney diseases.
            Review article
REFERENCE   6  (bases 1 to 1552)
  AUTHORS   Labarrere,C.A., Pitts,D., Halbrook,H. and Faulk,W.P.
  TITLE     Natural anticoagulant pathways in normal and transplanted human
            hearts
  JOURNAL   J Heart Lung Transplant 11 (2 Pt 1), 342-347 (1992)
   PUBMED   1315572
REFERENCE   7  (bases 1 to 1552)
  AUTHORS   Prochownik,E.V., Bock,S.C. and Orkin,S.H.
  TITLE     Intron structure of the human antithrombin III gene differs from
            that of other members of the serine protease inhibitor superfamily
  JOURNAL   J Biol Chem 260 (17), 9608-9612 (1985)
   PUBMED   2991253
REFERENCE   8  (bases 1 to 1552)
  AUTHORS   Prochownik,E.V., Markham,A.F. and Orkin,S.H.
  TITLE     Isolation of a cDNA clone for human antithrombin III
  JOURNAL   J Biol Chem 258 (13), 8389-8394 (1983)
   PUBMED   6305982
REFERENCE   9  (bases 1 to 1552)
  AUTHORS   Chandra,T., Stackhouse,R., Kidd,V.J. and Woo,S.L.
  TITLE     Isolation and sequence characterization of a cDNA clone of human
            antithrombin III
  JOURNAL   Proc Natl Acad Sci U S A 80 (7), 1845-1848 (1983)
   PUBMED   6572945
REFERENCE   10 (bases 1 to 1552)
  AUTHORS   Bock,S.C., Wion,K.L., Vehar,G.A. and Lawn,R.M.
  TITLE     Cloning and expression of the cDNA for human antithrombin III
  JOURNAL   Nucleic Acids Res 10 (24), 8113-8125 (1982)
   PUBMED   6298709
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL136170.14.
            
            On Jun 3, 2020 this sequence version replaced NM_000488.3.
            
            Summary: The protein encoded by this gene, antithrombin III, is a
            plasma protease inhibitor and a member of the serpin superfamily.
            This protein inhibits thrombin as well as other activated serine
            proteases of the coagulation system, and it regulates the blood
            coagulation cascade. The protein includes two functional domains:
            the heparin binding-domain at the N-terminus of the mature protein,
            and the reactive site domain at the C-terminus. The inhibitory
            activity is enhanced by the presence of heparin. Numerous mutations
            have been identified for this gene, many of which are known to
            cause antithrombin-III deficiency which constitutes a strong risk
            factor for thrombosis. A reduction in the serum level of this
            protein is associated with severe cases of Coronavirus Disease 19
            (COVID-19). [provided by RefSeq, Sep 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 :: AK312654.1, SRR5189667.148850.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related    :: involved in cytokine storm inflammatory
                                      response
            MANE Ensembl match     :: ENST00000367698.4/ ENSP00000356671.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-109               AL136170.14        59855-59963         c
            110-476             AL136170.14        57189-57555         c
            477-692             AL136170.14        54435-54650         c
            693-830             AL136170.14        53390-53527         c
            831-1221            AL136170.14        52188-52578         c
            1222-1286           AL136170.14        50086-50150         c
            1287-1552           AL136170.14        46436-46701         c
FEATURES             Location/Qualifiers
     source          1..1552
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q25.1"
     gene            1..1552
                     /gene="SERPINC1"
                     /gene_synonym="AT3; AT3D; ATIII; ATIII-R2; ATIII-T1;
                     ATIII-T2; THPH7"
                     /note="serpin family C member 1"
                     /db_xref="GeneID:462"
                     /db_xref="HGNC:HGNC:775"
                     /db_xref="MIM:107300"
     exon            1..109
                     /gene="SERPINC1"
                     /gene_synonym="AT3; AT3D; ATIII; ATIII-R2; ATIII-T1;
                     ATIII-T2; THPH7"
                     /inference="alignment:Splign:2.1.0"
     CDS             69..1463
                     /gene="SERPINC1"
                     /gene_synonym="AT3; AT3D; ATIII; ATIII-R2; ATIII-T1;
                     ATIII-T2; THPH7"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; serine (or cysteine) proteinase inhibitor,
                     clade C (antithrombin), member 1; antithrombin-III; serpin
                     peptidase inhibitor clade C member 1; serpin peptidase
                     inhibitor, clade C (antithrombin), member 1"
                     /codon_start=1
                     /product="antithrombin-III isoform 1 precursor"
                     /protein_id="NP_000479.1"
                     /db_xref="CCDS:CCDS1313.1"
                     /db_xref="GeneID:462"
                     /db_xref="HGNC:HGNC:775"
                     /db_xref="MIM:107300"
                     /translation="MYSNVIGTVTSGKRKVYLLSLLLIGFWDCVTCHGSPVDICTAKP
                     RDIPMNPMCIYRSPEKKATEDEGSEQKIPEATNRRVWELSKANSRFATTFYQHLADSK
                     NDNDNIFLSPLSISTAFAMTKLGACNDTLQQLMEVFKFDTISEKTSDQIHFFFAKLNC
                     RLYRKANKSSKLVSANRLFGDKSLTFNETYQDISELVYGAKLQPLDFKENAEQSRAAI
                     NKWVSNKTEGRITDVIPSEAINELTVLVLVNTIYFKGLWKSKFSPENTRKELFYKADG
                     ESCSASMMYQEGKFRYRRVAEGTQVLELPFKGDDITMVLILPKPEKSLAKVEKELTPE
                     VLQEWLDELEEMMLVVHMPRFRIEDGFSLKEQLQDMGLVDLFSPEKSKLPGIVAEGRD
                     DLYVSDAFHKAFLEVNEEGSEAAASTAVVIAGRSLNPNRVTFKANRPFLVFIREVPLN
                     TIIFMGRVANPCVK"
     exon            110..476
                     /gene="SERPINC1"
                     /gene_synonym="AT3; AT3D; ATIII; ATIII-R2; ATIII-T1;
                     ATIII-T2; THPH7"
                     /inference="alignment:Splign:2.1.0"
     exon            477..692
                     /gene="SERPINC1"
                     /gene_synonym="AT3; AT3D; ATIII; ATIII-R2; ATIII-T1;
                     ATIII-T2; THPH7"
                     /inference="alignment:Splign:2.1.0"
     exon            693..830
                     /gene="SERPINC1"
                     /gene_synonym="AT3; AT3D; ATIII; ATIII-R2; ATIII-T1;
                     ATIII-T2; THPH7"
                     /inference="alignment:Splign:2.1.0"
     exon            831..1221
                     /gene="SERPINC1"
                     /gene_synonym="AT3; AT3D; ATIII; ATIII-R2; ATIII-T1;
                     ATIII-T2; THPH7"
                     /inference="alignment:Splign:2.1.0"
     exon            1222..1286
                     /gene="SERPINC1"
                     /gene_synonym="AT3; AT3D; ATIII; ATIII-R2; ATIII-T1;
                     ATIII-T2; THPH7"
                     /inference="alignment:Splign:2.1.0"
     exon            1287..1552
                     /gene="SERPINC1"
                     /gene_synonym="AT3; AT3D; ATIII; ATIII-R2; ATIII-T1;
                     ATIII-T2; THPH7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1518..1523
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPINC1"
                     /gene_synonym="AT3; AT3D; ATIII; ATIII-R2; ATIII-T1;
                     ATIII-T2; THPH7"
                     /note="hexamer: AATAAA"
     regulatory      1522..1527
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPINC1"
                     /gene_synonym="AT3; AT3D; ATIII; ATIII-R2; ATIII-T1;
                     ATIII-T2; THPH7"
                     /note="hexamer: AATACA"
     polyA_site      1543
                     /gene="SERPINC1"
                     /gene_synonym="AT3; AT3D; ATIII; ATIII-R2; ATIII-T1;
                     ATIII-T2; THPH7"
                     /note="major polyA site"
     polyA_site      1552
                     /gene="SERPINC1"
                     /gene_synonym="AT3; AT3D; ATIII; ATIII-R2; ATIII-T1;
                     ATIII-T2; THPH7"
ORIGIN      
        1 agttttcagg cggattgcct cagatcacac tatctccact tgcccagccc tgtggaagat
       61 tagcggccat gtattccaat gtgataggaa ctgtaacctc tggaaaaagg aaggtttatc
      121 ttttgtcctt gctgctcatt ggcttctggg actgcgtgac ctgtcacggg agccctgtgg
      181 acatctgcac agccaagccg cgggacattc ccatgaatcc catgtgcatt taccgctccc
      241 cggagaagaa ggcaactgag gatgagggct cagaacagaa gatcccggag gccaccaacc
      301 ggcgtgtctg ggaactgtcc aaggccaatt cccgctttgc taccactttc tatcagcacc
      361 tggcagattc caagaatgac aatgataaca ttttcctgtc acccctgagt atctccacgg
      421 cttttgctat gaccaagctg ggtgcctgta atgacaccct ccagcaactg atggaggtat
      481 ttaagtttga caccatatct gagaaaacat ctgatcagat ccacttcttc tttgccaaac
      541 tgaactgccg actctatcga aaagccaaca aatcctccaa gttagtatca gccaatcgcc
      601 tttttggaga caaatccctt accttcaatg agacctacca ggacatcagt gagttggtat
      661 atggagccaa gctccagccc ctggacttca aggaaaatgc agagcaatcc agagcggcca
      721 tcaacaaatg ggtgtccaat aagaccgaag gccgaatcac cgatgtcatt ccctcggaag
      781 ccatcaatga gctcactgtt ctggtgctgg ttaacaccat ttacttcaag ggcctgtgga
      841 agtcaaagtt cagccctgag aacacaagga aggaactgtt ctacaaggct gatggagagt
      901 cgtgttcagc atctatgatg taccaggaag gcaagttccg ttatcggcgc gtggctgaag
      961 gcacccaggt gcttgagttg cccttcaaag gtgatgacat caccatggtc ctcatcttgc
     1021 ccaagcctga gaagagcctg gccaaggtag agaaggaact caccccagag gtgctgcaag
     1081 agtggctgga tgaattggag gagatgatgc tggtggtcca catgccccgc ttccgcattg
     1141 aggacggctt cagtttgaag gagcagctgc aagacatggg ccttgtcgat ctgttcagcc
     1201 ctgaaaagtc caaactccca ggtattgttg cagaaggccg agatgacctc tatgtctcag
     1261 atgcattcca taaggcattt cttgaggtaa atgaagaagg cagtgaagca gctgcaagta
     1321 ccgctgttgt gattgctggc cgttcgctaa accccaacag ggtgactttc aaggccaaca
     1381 ggcctttcct ggtttttata agagaagttc ctctgaacac tattatcttc atgggcagag
     1441 tagccaaccc ttgtgttaag taaaatgttc ttattctttg cacctcttcc tatttttggt
     1501 ttgtgaacag aagtaaaaat aaatacaaac tacttccatc tcacattata aa
//
