LOCUS       NM_000185               2203 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens serpin family D member 1 (SERPIND1), mRNA.
ACCESSION   NM_000185
VERSION     NM_000185.4
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 2203)
  AUTHORS   Hara,T., Uemoto,R., Sekine,A., Mitsui,Y., Masuda,S., Yamagami,H.,
            Kurahashi,K., Yoshida,S., Otoda,T., Yuasa,T., Kuroda,A., Ikeda,Y.,
            Endo,I., Honda,S., Yoshimoto,K., Kondo,A., Tamaki,T., Matsumoto,T.,
            Matsuhisa,M., Abe,M. and Aihara,K.I.
  TITLE     Plasma Heparin Cofactor II Activity Is Inversely Associated with
            Hepatic Fibrosis of Non-Alcoholic Fatty Liver Disease in Patients
            with Type 2 Diabetes Mellitus
  JOURNAL   J Atheroscler Thromb 30 (8), 871-883 (2023)
   PUBMED   36244745
  REMARK    GeneRIF: Plasma Heparin Cofactor II Activity Is Inversely
            Associated with Hepatic Fibrosis of Non-Alcoholic Fatty Liver
            Disease in Patients with Type 2 Diabetes Mellitus.
REFERENCE   2  (bases 1 to 2203)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 2203)
  AUTHORS   Bano,S., Fatima,S., Ahamad,S., Ansari,S., Gupta,D., Tabish,M.,
            Rehman,S.U. and Jairajpuri,M.A.
  TITLE     Identification and characterization of a novel isoform of heparin
            cofactor II in human liver
  JOURNAL   IUBMB Life 72 (10), 2180-2193 (2020)
   PUBMED   32827448
  REMARK    GeneRIF: Identification and characterization of a novel isoform of
            heparin cofactor II in human liver.
REFERENCE   4  (bases 1 to 2203)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (bases 1 to 2203)
  AUTHORS   Van Deerlin,V.M. and Tollefsen,D.M.
  TITLE     The N-terminal acidic domain of heparin cofactor II mediates the
            inhibition of alpha-thrombin in the presence of glycosaminoglycans
  JOURNAL   J Biol Chem 266 (30), 20223-20231 (1991)
   PUBMED   1939083
REFERENCE   6  (bases 1 to 2203)
  AUTHORS   Herzog,R., Lutz,S., Blin,N., Marasa,J.C., Blinder,M.A. and
            Tollefsen,D.M.
  TITLE     Complete nucleotide sequence of the gene for human heparin cofactor
            II and mapping to chromosomal band 22q11
  JOURNAL   Biochemistry 30 (5), 1350-1357 (1991)
   PUBMED   1671335
REFERENCE   7  (bases 1 to 2203)
  AUTHORS   Church,F.C., Pratt,C.W. and Hoffman,M.
  TITLE     Leukocyte chemoattractant peptides from the serpin heparin cofactor
            II
  JOURNAL   J Biol Chem 266 (2), 704-709 (1991)
   PUBMED   1985958
REFERENCE   8  (bases 1 to 2203)
  AUTHORS   Uszynski,M.
  TITLE     Tissue anticoagulants in the human placenta: preliminary study with
            a heparin-like anticoagulant and review of the literature
  JOURNAL   Gynecol Obstet Invest 32 (3), 129-133 (1991)
   PUBMED   1836773
  REMARK    Review article
REFERENCE   9  (bases 1 to 2203)
  AUTHORS   Blinder,M.A. and Tollefsen,D.M.
  TITLE     Site-directed mutagenesis of arginine 103 and lysine 185 in the
            proposed glycosaminoglycan-binding site of heparin cofactor II
  JOURNAL   J Biol Chem 265 (1), 286-291 (1990)
   PUBMED   2104620
REFERENCE   10 (bases 1 to 2203)
  AUTHORS   Blinder,M.A., Marasa,J.C., Reynolds,C.H., Deaven,L.L. and
            Tollefsen,D.M.
  TITLE     Heparin cofactor II: cDNA sequence, chromosome localization,
            restriction fragment length polymorphism, and expression in
            Escherichia coli
  JOURNAL   Biochemistry 27 (2), 752-759 (1988)
   PUBMED   2894851
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007308.13 and BC035028.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000185.3.
            
            Summary: This gene belongs to the serpin gene superfamily. Serpins
            play roles in many processes including inflammation, blood
            clotting, and cancer metastasis. Members of this family have highly
            conserved secondary structures with a reactive center loop that
            interacts with the protease active site to inhibit protease
            activity. This gene encodes a plasma serine protease that functions
            as a thrombin and chymotrypsin inhibitor. The protein is activated
            by heparin, dermatan sulfate, and glycosaminoglycans. Allelic
            variations in this gene are associated with heparin cofactor II
            deficiency. [provided by RefSeq, Jul 2015].
            
            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 :: BC035028.2, SRR1803613.60943.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142853, SAMEA2144120
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000215727.10/ ENSP00000215727.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-33                AC007308.13        80975-81007
            34-938              AC007308.13        86159-87063
            939-1212            AC007308.13        90834-91107
            1213-1357           AC007308.13        92866-93010
            1358-2191           AC007308.13        93737-94570
            2192-2203           BC035028.2         2192-2203
FEATURES             Location/Qualifiers
     source          1..2203
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     gene            1..2203
                     /gene="SERPIND1"
                     /gene_synonym="D22S673; HC2; HCF2; HCII; HLS2; LS2;
                     THPH10"
                     /note="serpin family D member 1"
                     /db_xref="GeneID:3053"
                     /db_xref="HGNC:HGNC:4838"
                     /db_xref="MIM:142360"
     exon            1..33
                     /gene="SERPIND1"
                     /gene_synonym="D22S673; HC2; HCF2; HCII; HLS2; LS2;
                     THPH10"
                     /inference="alignment:Splign:2.1.0"
     exon            34..938
                     /gene="SERPIND1"
                     /gene_synonym="D22S673; HC2; HCF2; HCII; HLS2; LS2;
                     THPH10"
                     /inference="alignment:Splign:2.1.0"
     CDS             50..1549
                     /gene="SERPIND1"
                     /gene_synonym="D22S673; HC2; HCF2; HCII; HLS2; LS2;
                     THPH10"
                     /note="serine (or cysteine) proteinase inhibitor, clade D
                     (heparin cofactor), member 1; leuserpin 2; heparin
                     cofactor 2; serpin D1; protease inhibitor leuserpin-2;
                     serpin peptidase inhibitor, clade D (heparin cofactor),
                     member 1"
                     /codon_start=1
                     /product="heparin cofactor 2 precursor"
                     /protein_id="NP_000176.2"
                     /db_xref="CCDS:CCDS13783.1"
                     /db_xref="GeneID:3053"
                     /db_xref="HGNC:HGNC:4838"
                     /db_xref="MIM:142360"
                     /translation="MKHSLNALLIFLIITSAWGGSKGPLDQLEKGGETAQSADPQWEQ
                     LNNKNLSMPLLPADFHKENTVTNDWIPEGEEDDDYLDLEKIFSEDDDYIDIVDSLSVS
                     PTDSDVSAGNILQLFHGKSRIQRLNILNAKFAFNLYRVLKDQVNTFDNIFIAPVGIST
                     AMGMISLGLKGETHEQVHSILHFKDFVNASSKYEITTIHNLFRKLTHRLFRRNFGYTL
                     RSVNDLYIQKQFPILLDFKTKVREYYFAEAQIADFSDPAFISKTNNHIMKLTKGLIKD
                     ALENIDPATQMMILNCIYFKGSWVNKFPVEMTHNHNFRLNEREVVKVSMMQTKGNFLA
                     ANDQELDCDILQLEYVGGISMLIVVPHKMSGMKTLEAQLTPRVVERWQKSMTNRTREV
                     LLPKFKLEKNYNLVESLKLMGIRMLFDKNGNMAGISDQRIAIDLFKHQGTITVNEEGT
                     QATTVTTVGFMPLSTQVRFTVDRPFLFLIYEHRTSCLLFMGRVANPSRS"
     exon            939..1212
                     /gene="SERPIND1"
                     /gene_synonym="D22S673; HC2; HCF2; HCII; HLS2; LS2;
                     THPH10"
                     /inference="alignment:Splign:2.1.0"
     exon            1213..1357
                     /gene="SERPIND1"
                     /gene_synonym="D22S673; HC2; HCF2; HCII; HLS2; LS2;
                     THPH10"
                     /inference="alignment:Splign:2.1.0"
     exon            1358..2203
                     /gene="SERPIND1"
                     /gene_synonym="D22S673; HC2; HCF2; HCII; HLS2; LS2;
                     THPH10"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2179..2184
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPIND1"
                     /gene_synonym="D22S673; HC2; HCF2; HCII; HLS2; LS2;
                     THPH10"
                     /note="hexamer: AATAAA"
     polyA_site      2203
                     /gene="SERPIND1"
                     /gene_synonym="D22S673; HC2; HCF2; HCII; HLS2; LS2;
                     THPH10"
                     /note="major polyA site"
ORIGIN      
        1 atctctgaag cgccacttct cagaaacaca gagctttagc tccgccaaaa tgaaacactc
       61 attaaacgca cttctcattt tcctcatcat aacatctgcg tggggtggga gcaaaggccc
      121 gctggatcag ctagagaaag gaggggaaac tgctcagtct gcagatcccc agtgggagca
      181 gttaaataac aaaaacctga gcatgcctct tctccctgcc gacttccaca aggaaaacac
      241 cgtcaccaac gactggattc cagaggggga ggaggacgac gactatctgg acctggagaa
      301 gatattcagt gaagacgacg actacatcga catcgtcgac agtctgtcag tttccccgac
      361 agactctgat gtgagtgctg ggaacatcct ccagcttttt catggcaaga gccggatcca
      421 gcgtcttaac atcctcaacg ccaagttcgc tttcaacctc taccgagtgc tgaaagacca
      481 ggtcaacact ttcgataaca tcttcatagc acccgttggc atttctactg cgatgggtat
      541 gatttcctta ggtctgaagg gagagaccca tgaacaagtg cactcgattt tgcattttaa
      601 agactttgtt aatgccagca gcaagtatga aatcacgacc attcataatc tcttccgtaa
      661 gctgactcat cgcctcttca ggaggaattt tgggtacaca ctgcggtcag tcaatgacct
      721 ttatatccag aagcagtttc caatcctgct tgacttcaaa actaaagtaa gagagtatta
      781 ctttgctgag gcccagatag ctgacttctc agaccctgcc ttcatatcaa aaaccaacaa
      841 ccacatcatg aagctcacca agggcctcat aaaagatgct ctggagaata tagaccctgc
      901 tacccagatg atgattctca actgcatcta cttcaaagga tcctgggtga ataaattccc
      961 agtggaaatg acacacaacc acaacttccg gctgaatgag agagaggtag ttaaggtttc
     1021 catgatgcag accaagggga acttcctcgc agcaaatgac caggagctgg actgcgacat
     1081 cctccagctg gaatacgtgg ggggcatcag catgctaatt gtggtcccac acaagatgtc
     1141 tgggatgaag accctcgaag cgcaactgac accccgggtg gtggagagat ggcaaaaaag
     1201 catgacaaac agaactcgag aagtgcttct gccgaaattc aagctggaga agaactacaa
     1261 tctagtggag tccctgaagt tgatggggat caggatgctg tttgacaaaa atggcaacat
     1321 ggcaggcatc tcagaccaaa ggatcgccat cgacctgttc aagcaccaag gcacgatcac
     1381 agtgaacgag gaaggcaccc aagccaccac tgtgaccacg gtggggttca tgccgctgtc
     1441 cacccaagtc cgcttcactg tcgaccgccc ctttcttttc ctcatctacg agcatcgcac
     1501 cagctgcctg ctcttcatgg gaagagtggc caaccccagc aggtcctaga ggtggaggtc
     1561 taggtgtctg aagtgccttg ggggcaccct cattttgttt ccattccaac aacgagaaca
     1621 gagatgttct ggcatcattt acgtagttta cgctaccaat ctgaattcga ggcccatatg
     1681 agaggagctt agaaacgacc aagaagagag gcttgttgga atcaattctg cacaatagcc
     1741 catgctgtaa gctcatagaa gtcactgtaa ctgtagtgtg tctgctgtta cctagagggt
     1801 ctcacctccc cactcttcac agcaaacctg agcagcgcgt cctaagcacc tcccgctccg
     1861 gtgaccccat ccttgcacac ctgactctgt cactcaagcc tttctccacc aggcccctca
     1921 tctgaatacc aagcacagaa atgagtggtg tgactaattc cttacctctc ccaaggaggg
     1981 tacacaacta gcaccattct tgatgtccag ggaagaagcc acctcaagac atatgagggg
     2041 tgccctgggc taatgttagg gcttaatttt ctcaaagcct gacctttcaa atccatgatg
     2101 aatgccatca gtccctcctg ctgttgcctc cctgtgacct ggaggacagt gtgtgccatg
     2161 tctcccatac tagagataaa taaatgtagc cacatttact gtg
//
