ELANE

ELANE
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1B0F, 1H1B, 1HNE, 1PPF, 1PPG, 2RG3, 2Z7F, 3Q76, 3Q77, 4NZL, 4WVP, 5A09, 5A0A, 5A0B, 5A0C, 5ABW
Dynodwyr
Cyfenwau	ELANE, ELA2, GE, HLE, HNE, NE, PMN-E, SCN1, elastase, neutrophil expressed
Dynodwyr allanol	OMIM: 130130 HomoloGene: 20455 GeneCards: ELANE
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • GO:0001106 transcription corepressor activity • heparin binding • endopeptidase activity • protease binding • GO:0070122 peptidase activity • GO:0001948, GO:0016582 protein binding • serine-type peptidase activity • hydrolase activity • GO:0019974 cytokine binding • serine-type endopeptidase activity Cydrannau o'r gell • cytoplasm • transcription repressor complex • secretory granule • extracellular region • cell surface • extracellular exosome • extracellular space • azurophil granule lumen • specific granule lumen • collagen-containing extracellular matrix Prosesau biolegol • response to yeast • positive regulation of MAP kinase activity • negative regulation of chemotaxis • cellular calcium ion homeostasis • extracellular matrix disassembly • acute inflammatory response to antigenic stimulus • GO:1901227 negative regulation of transcription by RNA polymerase II • defense response to fungus • proteolysis • response to lipopolysaccharide • positive regulation of immune response • GO:0044257 protein catabolic process • defense response to bacterium • ffagocytosis • neutrophil-mediated killing of fungus • negative regulation of inflammatory response • response to UV • leukocyte migration • positive regulation of smooth muscle cell proliferation • leukocyte migration involved in inflammatory response • positive regulation of leukocyte tethering or rolling • antimicrobial humoral response • neutrophil degranulation Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	1991	n/a
Ensembl	ENSG00000277571 ENSG00000197561	n/a
UniProt	P08246	n/a
RefSeq (mRNA)	NM_001972	n/a
RefSeq (protein)	NP_001963	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn ELANE yw ELANE a elwir hefyd yn Elastase, neutrophil expressed (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 19, band 19p13.3.

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn ELANE.

• GE
• NE
• HLE
• HNE
• ELA2
• SCN1
• PMN-E

Llyfryddiaeth

• "Elastase inhibitors as potential therapies for ELANE-associated neutropenia. ". J Leukoc Biol. 2017. PMID 28754797.
• "Degradation of elastic fiber and elevated elastase expression in long head of biceps tendinopathy. ". J Orthop Res. 2017. PMID 27935111.
• "ELANE mutant-specific activation of different UPR pathways in congenital neutropenia. ". Br J Haematol. 2016. PMID 26567890.
• "Pathogenesis of ELANE-mutant severe neutropenia revealed by induced pluripotent stem cells. ". J Clin Invest. 2015. PMID 26193632.
• "Paternal Somatic Mosaicism of a Novel Frameshift Mutation in ELANE Causing Severe Congenital Neutropenia.". Pediatr Blood Cancer. 2015. PMID 26174650.