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
	1991
	n/a
	ENSG00000277571; ENSG00000197561
	n/a
	P08246
	n/a
	NM_001972
	n/a
	NP_001963
	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.^[2]

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.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] ELANE - Cronfa NCBI

[1]

[2]