NPC1

NPC1
Strwythurau
PDB	Human UniProt search: PDBe RCSB
Rhestr o ddynodwyr PDB
	3GKH, 3GKI, 3GKJ, 5F1B, 5F18, 5HNS, 3JD8, 5I31, 5JNX
Dynodwyr
Cyfenwau	NPC1, NPC, NPC intracellular cholesterol transporter 1, SLC65A1, POGZ
Dynodwyr allanol	OMIM: 607623 HomoloGene: 228 GeneCards: NPC1
Patrwm RNA pattern
	Rhagor o gyfeiriadau
Ontoleg y genyn
Gweithrediad moleciwlaidd	• virus receptor activity; • lipid transporter activity; • sterol transporter activity; • cholesterol binding; • GO:0001948, GO:0016582 protein binding; • transmembrane signaling receptor activity; • signaling receptor activity;
Cydrannau o'r gell	• integral component of membrane; • fesigl; • endosome; • Golgi apparatus; • nuclear envelope; • bilen; • late endosome membrane; • Cellbilen; • integral component of plasma membrane; • extracellular region; • Reticwlwm endoplasmig; • perinuclear region of cytoplasm; • membrane raft; • lysosome; • extracellular exosome; • lysosomal membrane; • integral component of lysosomal membrane;
Prosesau biolegol	• cellular response to steroid hormone stimulus; • steroid metabolic process; • response to cadmium ion; • endocytosis; • negative regulation of macroautophagy; • lipid metabolism; • bile acid metabolic process; • cholesterol transport; • establishment of protein localization to membrane; • cellular response to low-density lipoprotein particle stimulus; • cholesterol metabolic process; • negative regulation of cell death; • autophagy; • GO:0033578, GO:0033577, GO:0033575, GO:0033576 protein glycosylation; • membrane raft organization; • cholesterol efflux; • lysosomal transport; • viral entry into host cell; • cholesterol homeostasis; • GO:0022415 viral process; • adult walking behavior; • GO:0072468 signal transduction; • low-density lipoprotein particle clearance; • intracellular cholesterol transport; • lipid transport;
	Sources:Amigo / QuickGO
Orthologau
	4864
	n/a
	ENSG00000141458
	n/a
	O15118
	n/a
	NM_000271
	n/a
	NP_000262
	n/a
	Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn NPC1 yw NPC1 a elwir hefyd yn Niemann-Pick C1 protein a NPC intracellular cholesterol transporter 1 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn ôl o gromosom dynol 18, band 18q11.2.^[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 NPC1.

NPC
SLC65A1

Llyfryddiaeth

"Ebola virus requires phosphatidylinositol (3,5) bisphosphate production for efficient viral entry. ". Virology. 2018. PMID 29031163.
"Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations. ". BMC Med Genet. 2017. PMID 28472934.
"Association of NPC1 variant p.P237S with a pathogenic splice variant in two Niemann-Pick disease type C1 patients. ". Am J Med Genet A. 2017. PMID 28328115.
"Histone deacetylase inhibitors correct the cholesterol storage defect in most Niemann-Pick C1 mutant cells. ". J Lipid Res. 2017. PMID 28193631.
"Genome sequencing in a case of Niemann-Pick type C.". Cold Spring Harb Mol Case Stud. 2016. PMID 27900365.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] NPC1 - Cronfa NCBI

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[2]