Yhteenveto tiedoista: Tämä geeni koodaa elastaasi-spesifistä inhibiitoria (ESI) , joka toimii antimikrobiaalisena peptidinä (AMP) Gram-positiivisia ja Gram-negatiivisia bakteereita ja sienipatogeeneja kohtaan. proteiinissa on WAP-tyyppinen neljän disulfidin ydindomeeni (WFDC), joten se on WFDC-domeeniperhettä. Useimmat WFDC- geenijäsenet sijoittuvat kromosomiin 20q12-q13 kahtena ryväksenä: niitä on sentromeerinen ja telomeerinen klusteri. Tämä geeni säätyy ylös bakteeriperäisestä LPS.stä ja sytokiineistä.
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].
Viitteet.
Ref.1.(2017). Elafiinin ilmentymä ja kliininen merkitys tulehduksellisessa suolistotaudissa (IBD).(GeneRIF) Elafiinilla voi olla suojelevaa vaikutusta. tämä pääteltiin siitä, että aktiivista tulehduksellista suolistotautia (IBD) potevilla elafiini oli alentunut ja korreloi negatiivisesti taudin aktiivisuuteen.
Expression and Clinical Significance of Elafin in Inflammatory Bowel Disease GeneRIF: Elafin decreased in active patients with inflammatory bowel disease and was negatively correlated with disease activity, suggesting that elafin may play a protective role
Ref.2.(2017) . Krooniselle hyperoksialle altistetussa vastasyntyneessä hiiressä ihmisen elafiinin rekombinantti edistää alveologeneesiä.
Recombinant human elafin promotes alveologenesis in newborn mice
exposed to chronic hyperoxia
Ref.3.(2017) Plasman neutrofiilielastaasi(NE) ja elafiini prognostisina biomerkitsijäinä akuutissa a hengitysteiden stressioireyhtymässä.( Tästä on laaja tutkimus) .( GeneRIF). ARDS: Biomerkitsijöinä plasman neutrofiilielastaasi (NE) ja elafiini.
Plasma Neutrophil Elastase and Elafin as Prognostic Biomarker for Acute Respiratory Distress Syndrome: A Multicenter Survival and
Longitudinal Prospective Observation Stud
GeneRIF: Plasma Neutrophil Elastase and Elafin as Prognostic Biomarker for Acute Respiratory Distress Syndrome
Ref.4. (2017) Pre-elafiini osallistuu UV-säteilyn indusoimaan keratinosyytin apoptoosiin prokaspaasi-3:n aktivaatiolla säätämällä alas kystatiini-A:n. (GeneRIF)
UV-säteilyn fototoksinen vaikutus indusoi keratinosyyteissä pre-elafiinia ennen kuin sarveiskerros muodostuu. Tämä muodostunut pre-elafiini saattaa osallistua keratinosyyttein apoptoosiin UV-säteilyn vaikutuksesta. Vaikutustienä on kystatiini-A:n alassäätyminen ja siitä aktivoituva kaspaasi-3.
Pre-elafin is Involved in Ultraviolet-induced Keratinocyte
Apoptosis via Pro-caspase-3 Activation Associated with Cystatin-A
Down-regulation.
GeneRIF: UV phototoxicity-induced pre-elafin inside keratinocytes
prior to cornified envelope formation could be involved in UV-induced keratinocyte apoptosis via cystatin-A downregulation resulting in pro-caspase-3 activation.
Ref.5. (2017). Anti-inflammatorista elafiinia on löydetty ihmisalkion kalvoista. (GeneRIF). Merkitsevästi korkeampi elafiini-ilmentymä esiintyy enneaikaisesti ennen synnytystä puhjenneissa sikiökalvoissa kuin täysiaikaisen sikiön kalvoissa.
Anti-inflammatory Elafin in human fetal membranes.GeneRIF:
significantly higher expression in preterm prelabor ruptured fetal membranes than in membranes from term birth
Ref.6.(2009) Ihmisen gammadelta T-solut tuottavat proteaasi-inhibiittoria ja antimikrobivaikutuksellista elafiini-peptidiä. (GeneRIF) Elafiinilla on tulehduskohdassa tärkeitä tehtäviä. Niihin kuuluu antiproteaasi- ja antimikrobivaikutukset.
Human gammadelta T cells produce the protease inhibitor and
antimicrobial peptide elafin.GeneRIF: Elafin has important roles in normal homoeostasis and at
sites of inflammation. These roles include antiprotease and
antimicrobial activity.
Ref.7.(1992) . Elafiinigeenin nukleotidisekvenssistä on päätelty ihmisen elafiinin prekursorin, preproelafiinin primääri rakenne; prosegmenttissä on ainutlaatuisia toistojaksoja.
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
Ref.8.(1992) Keuhkoputkien eritteestä on eristetty elafiinia ja elastaasispsesifistä inhibiittoria (ESI). On näyttöä näiden sekvenssihomogogiasta ja immunologisesta reistireaktisota.
Isolation of elafin and elastase-specific inhibitor (ESI) from
bronchial secretions. Evidence of sequence homology and
immunological cross-reactivity
Ref.9.(1991) Ihmisen keratinosyyteistä on eristetty elastaasin estäjä ja sen biokemiaalliset ominaisuudet on selvitetty . Se on ihoperäinen antileukoproteinaasi (SKALP).
Skin-derived antileukoproteinase (SKALP), an elastase inhibitor
from human keratinocytes. Purification and biochemical properties
Ref.10. (1990) Havaittu elastaasia-inhiboivaa aktiivisuutta hilseilevissä ihohäiriöissä.
Elastase-inhibiting activity in scaling skin disorders JOURNAL Acta Derm
LISÄTIETOJA ELAFIINI PREPROPROTEIININ aminhapposekvenssistä
elafin preproprotein [Homo sapiens]
NCBI Reference Sequence: NP_002629.1
LOCUS NP_002629 117 aa linear PRI 22-JUL-2018 DEFINITION elafin preproprotein [Homo sapiens]. ACCESSION NP_002629 VERSION NP_002629.1 DBSOURCE REFSEQ: accession NM_002638.3 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (residues 1 to 117) AUTHORS Zhang W, Teng G, Wu T, Tian Y and Wang H. TITLE Expression and Clinical Significance of Elafin in Inflammatory Bowel Disease JOURNAL Inflamm. Bowel Dis. 23 (12), 2134-2141 (2017) PUBMED 29084078 REMARK GeneRIF: Elafin decreased in active patients with inflammatory bowel disease and was negatively correlated with disease activity, suggesting that elafin may play a protective role REFERENCE 2 (residues 1 to 117) AUTHORS Han W, Li X, Zhang H, Yu B, Guo C and Deng C. TITLE Recombinant human elafin promotes alveologenesis in newborn mice exposed to chronic hyperoxia JOURNAL Int. J. Biochem. Cell Biol. 92, 173-182 (2017) PUBMED 28802561 REMARK GeneRIF: Recombinant human elafin promotes alveologenesis in newborn mice exposed to chronic hyperoxia REFERENCE 3 (residues 1 to 117) AUTHORS Wang T, Zhu Z, Liu Z, Yi L, Yang Z, Bian W, Chen W, Wang S, Li G, Li A, Martin GS and Zhu X. TITLE Plasma Neutrophil Elastase and Elafin as Prognostic Biomarker for Acute Respiratory Distress Syndrome: A Multicenter Survival and Longitudinal Prospective Observation Study JOURNAL Shock 48 (2), 168-174 (2017) PUBMED 28187039 REMARK GeneRIF: Plasma Neutrophil Elastase and Elafin as Prognostic Biomarker for Acute Respiratory Distress Syndrome REFERENCE 4 (residues 1 to 117) AUTHORS Kim H, Noh M, Bae ON, Lee CH and Lee AY. TITLE Pre-elafin is Involved in Ultraviolet-induced Keratinocyte Apoptosis via Pro-caspase-3 Activation Associated with Cystatin-A Down-regulation JOURNAL Acta Derm. Venereol. 97 (5), 578-585 (2017) PUBMED 28119996 REMARK GeneRIF: UV phototoxicity-induced pre-elafin inside keratinocytes prior to cornified envelope formation could be involved in UV-induced keratinocyte apoptosis via cystatin-A downregulation resulting in pro-caspase-3 activation. REFERENCE 5 (residues 1 to 117) AUTHORS Stalberg,C., Noda,N., Polettini,J., Jacobsson,B. and Menon,R. TITLE Anti-inflammatory Elafin in human fetal membranes JOURNAL J Perinat Med 45 (2), 237-244 (2017) PUBMED 27580179 REMARK GeneRIF: significantly higher expression in preterm prelabor ruptured fetal membranes than in membranes from term birth REFERENCE 6 (residues 1 to 117) 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 (residues 1 to 117) 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 (residues 1 to 117) 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 (residues 1 to 117) 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 (residues 1 to 117) 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. 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## Protein has antimicrobial activity :: PMID: 19906197 ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..117 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="20" /map="20q13.12" Protein 1..117 /product="elafin preproprotein" /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" /calculated_mol_wt=9938 sig_peptide 1..22 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2350 proprotein 23..117 /product="elafin proprotein" /calculated_mol_wt=9938 Region 31..47 /region_name="Cementoin" /note="Trappin protein transglutaminase binding domain; pfam10511" /db_xref="CDD:287482" Region 43..59 /region_name="Cementoin" /note="Trappin protein transglutaminase binding domain; pfam10511" /db_xref="CDD:287482" mat_peptide 61..117 /product="elafin" /experiment="DESCRIPTION:antimicrobial peptide[PMID:19906197]" /calculated_mol_wt=6007 Region 72..117 /region_name="WAP" /note="Four-disulfide core domains; smart00217" /db_xref="CDD:197580" Site 80..86 /site_type="inhibition" /note="inhibitory loop" /db_xref="CDD:238120" CDS 1..117 /gene="PI3" /gene_synonym="cementoin; ESI; SKALP; WAP3; WFDC14" /coded_by="NM_002638.3:25..378" /db_xref="CCDS:CCDS13344.1" /db_xref="GeneID:5266" /db_xref="HGNC:HGNC:8947" /db_xref="MIM:182257" ORIGIN 1 mrassflivv vfliagtlvl eaavtgvpvk gqdtvkgrvp fngqdpvkgq vsvkgqdkvk 61 aqepvkgpvs tkpgscpiil ircamlnppn rclkdtdcpg ikkccegscg macfvpq //
19.11. 2018 Muistiin elafiinista ja sen geeniklusterista. (AMP, antimikrobiaelli peptidi)
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