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
Species	Bod dynol	Llygoden
Entrez	4864	n/a
Ensembl	ENSG00000141458	n/a
UniProt	O15118	n/a
RefSeq (mRNA)	NM_000271	n/a
RefSeq (protein)	NP_000262	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 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.

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.