LOCUS       NM_002638                551 bp    mRNA    linear   PRI 17-JAN-2022
DEFINITION  Homo sapiens peptidase inhibitor 3 (PI3), mRNA.
ACCESSION   NM_002638
VERSION     NM_002638.4
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 551)
  AUTHORS   Sweatt AJ, Miyagawa K, Rhodes CJ, Taylor S, Del Rosario PA, Hsi A,
            Haddad F, Spiekerkoetter E, Bental-Roof M, Bland RD, Swietlik EM,
            Graf S, Wilkins MR, Morrell NW, Nicolls MR, Rabinovitch M and
            Zamanian RT.
  TITLE     Severe Pulmonary Arterial Hypertension Is Characterized by
            Increased Neutrophil Elastase and Relative Elafin Deficiency
  JOURNAL   Chest 160 (4), 1442-1458 (2021)
   PUBMED   34181952
  REMARK    GeneRIF: Severe Pulmonary Arterial Hypertension Is Characterized by
            Increased Neutrophil Elastase and Relative Elafin Deficiency.
REFERENCE   2  (bases 1 to 551)
  AUTHORS   Solan L, Carbonell D, Muniz P, Dorado N, Landete E, Chicano-Lavilla
            M, Anguita J, Gayoso J, Kwon M, Diez-Martin JL, Martinez-Laperche C
            and Buno I.
  TITLE     Elafin as a Predictive Biomarker of Acute Skin Graft-Versus-Host
            Disease After Haploidentical Stem Cell Transplantation Using
            Post-Transplant High-Dose Cyclophosphamide
  JOURNAL   Front Immunol 12, 516078 (2021)
   PUBMED   33679728
  REMARK    GeneRIF: Elafin as a Predictive Biomarker of Acute Skin
            Graft-Versus-Host Disease After Haploidentical Stem Cell
            Transplantation Using Post-Transplant High-Dose Cyclophosphamide.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 551)
  AUTHORS   Longatto-Filho A, Fregnani JH, Mafra da Costa A, de Araujo-Souza
            PS, Scapulatempo-Neto C, Herbster S, Boccardo E and Termini L.
  TITLE     Evaluation of Elafin Immunohistochemical Expression as Marker of
            Cervical Cancer Severity
  JOURNAL   Acta Cytol 65 (2), 165-174 (2021)
   PUBMED   33271565
  REMARK    GeneRIF: Evaluation of Elafin Immunohistochemical Expression as
            Marker of Cervical Cancer Severity.
REFERENCE   4  (bases 1 to 551)
  AUTHORS   Zakizadeh F, Mahmoudzadeh-Sagheb H, Asemi-Rad A, Ghasemi M, Moudi
            B, Sheibak N, Asadikalameh Z and Heidari Z.
  TITLE     Upregulation of elafin expression in the fallopian tube of ectopic
            tubal pregnancies compared to the normal tubes
  JOURNAL   J Reprod Immunol 141, 103136 (2020)
   PUBMED   32485443
  REMARK    GeneRIF: Upregulation of elafin expression in the fallopian tube of
            ectopic tubal pregnancies compared to the normal tubes.
REFERENCE   5  (bases 1 to 551)
  AUTHORS   Holmannova D, Borsky P, Borska L, Andrys C, Hamakova K, Rehacek V,
            Svadlakova T, Malkova A, Beranek M, Palicka V, Krejsek J and Fiala
            Z.
  TITLE     Metabolic Syndrome, Clusterin and Elafin in Patients with Psoriasis
            Vulgaris
  JOURNAL   Int J Mol Sci 21 (16), E5617 (2020)
   PUBMED   32764517
  REMARK    GeneRIF: Metabolic Syndrome, Clusterin and Elafin in Patients with
            Psoriasis Vulgaris.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 551)
  AUTHORS   Marischen L, Wesch D, Schroder JM, Wiedow O and Kabelitz D.
  TITLE     Human gammadelta T cells produce the protease inhibitor and
            antimicrobial peptide elafin
  JOURNAL   Scand J Immunol 70 (6), 547-552 (2009)
   PUBMED   19906197
  REMARK    GeneRIF: The synthesis of elafin is a novel effector function of
            gammadelta T cells which might be important for local immune
            defence
            GeneRIF: Elafin has important roles in normal homoeostasis and at
            sites of inflammation.  These roles include antiprotease and
            antimicrobial activity.
REFERENCE   7  (bases 1 to 551)
  AUTHORS   Saheki T, Ito F, Hagiwara H, Saito Y, Kuroki J, Tachibana S and
            Hirose S.
  TITLE     Primary structure of the human elafin precursor preproelafin
            deduced from the nucleotide sequence of its gene and the presence
            of unique repetitive sequences in the prosegment
  JOURNAL   Biochem Biophys Res Commun 185 (1), 240-245 (1992)
   PUBMED   1339270
REFERENCE   8  (bases 1 to 551)
  AUTHORS   Sallenave JM, Marsden MD and Ryle AP.
  TITLE     Isolation of elafin and elastase-specific inhibitor (ESI) from
            bronchial secretions. Evidence of sequence homology and
            immunological cross-reactivity
  JOURNAL   Biol Chem Hoppe Seyler 373 (1), 27-33 (1992)
   PUBMED   1536690
REFERENCE   9  (bases 1 to 551)
  AUTHORS   Schalkwijk J, de Roo C and de Jongh GJ.
  TITLE     Skin-derived antileukoproteinase (SKALP), an elastase inhibitor
            from human keratinocytes. Purification and biochemical properties
  JOURNAL   Biochim Biophys Acta 1096 (2), 148-154 (1991)
   PUBMED   2001428
REFERENCE   10 (bases 1 to 551)
  AUTHORS   Chang A, Schalkwijk J, Happle R and van de Kerkhof PC.
  TITLE     Elastase-inhibiting activity in scaling skin disorders
  JOURNAL   Acta Derm Venereol 70 (2), 147-151 (1990)
   PUBMED   1969201
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL049767.12, BC010952.1 and
            AA583773.1.
            
            On Nov 22, 2018 this sequence version replaced NM_002638.3.
            
            Summary: This gene encodes an elastase-specific inhibitor that
            functions as an antimicrobial peptide against Gram-positive and
            Gram-negative bacteria, and fungal pathogens. The protein contains
            a WAP-type four-disulfide core (WFDC) domain, and is thus a member
            of the WFDC domain family. Most WFDC gene members are localized to
            chromosome 20q12-q13 in two clusters: centromeric and telomeric.
            This gene belongs to the centromeric cluster. Expression of this
            gene is upgulated by bacterial lipopolysaccharides and cytokines.
            [provided by RefSeq, Oct 2014].
            
            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 :: BG490472.1, BC010952.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match                 :: ENST00000243924.4/
                                                  ENSP00000243924.3
            Protein has antimicrobial activity :: PMID: 19906197
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 AL049767.12        49516-49516
            2-423               BC010952.1         6-427
            424-551             AA583773.1         26-153              c
FEATURES             Location/Qualifiers
     source          1..551
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.12"
     gene            1..551
                     /gene="PI3"
                     /gene_synonym="cementoin; ESI; SKALP; WAP3; WFDC14"
                     /note="peptidase inhibitor 3"
                     /db_xref="GeneID:5266"
                     /db_xref="HGNC:HGNC:8947"
                     /db_xref="MIM:182257"
     exon            1..100
                     /gene="PI3"
                     /gene_synonym="cementoin; ESI; SKALP; WAP3; WFDC14"
                     /inference="alignment:Splign:2.1.0"
     CDS             22..375
                     /gene="PI3"
                     /gene_synonym="cementoin; ESI; SKALP; WAP3; WFDC14"
                     /note="WAP four-disulfide core domain 14; protease
                     inhibitor 3, skin-derived (SKALP); skin-derived
                     antileukoproteinase; elastase-specific inhibitor;
                     pre-elafin; trappin-2; PI-3; protease inhibitor WAP3; WAP
                     four-disulfide core domain protein 14; peptidase inhibitor
                     3, skin-derived"
                     /codon_start=1
                     /product="elafin preproprotein"
                     /protein_id="NP_002629.1"
                     /db_xref="CCDS:CCDS13344.1"
                     /db_xref="GeneID:5266"
                     /db_xref="HGNC:HGNC:8947"
                     /db_xref="MIM:182257"
                     /translation="MRASSFLIVVVFLIAGTLVLEAAVTGVPVKGQDTVKGRVPFNGQ
                     DPVKGQVSVKGQDKVKAQEPVKGPVSTKPGSCPIILIRCAMLNPPNRCLKDTDCPGIK
                     KCCEGSCGMACFVPQ"
     exon            101..376
                     /gene="PI3"
                     /gene_synonym="cementoin; ESI; SKALP; WAP3; WFDC14"
                     /inference="alignment:Splign:2.1.0"
     exon            377..551
                     /gene="PI3"
                     /gene_synonym="cementoin; ESI; SKALP; WAP3; WFDC14"
                     /inference="alignment:Splign:2.1.0"
     regulatory      529..534
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PI3"
                     /gene_synonym="cementoin; ESI; SKALP; WAP3; WFDC14"
                     /note="hexamer: AATAAA"
     polyA_site      551
                     /gene="PI3"
                     /gene_synonym="cementoin; ESI; SKALP; WAP3; WFDC14"
                     /note="major polyA site"
ORIGIN      
        1 gccaaacacc ttcctgacac catgagggcc agcagcttct tgatcgtggt ggtgttcctc
       61 atcgctggga cgctggttct agaggcagct gtcacgggag ttcctgttaa aggtcaagac
      121 actgtcaaag gccgtgttcc attcaatgga caagatcccg ttaaaggaca agtttcagtt
      181 aaaggtcaag ataaagtcaa agcgcaagag ccagtcaaag gtccagtctc cactaagcct
      241 ggctcctgcc ccattatctt gatccggtgc gccatgttga atccccctaa ccgctgcttg
      301 aaagatactg actgcccagg aatcaagaag tgctgtgaag gctcttgcgg gatggcctgt
      361 ttcgttcccc agtgagaggg agccggtcct tgctgcacct gtgccgtccc cagagctaca
      421 ggccccatct ggtcctaagt ccctgctgcc cttccccttc ccacactgtc cattcttcct
      481 cccattcagg atgcccacgg ctggagctgc ctctctcatc cactttccaa taaagagttc
      541 cttctgctcc a
//
