NPC1

NPC1
Dostupne strukture PDB Pretraga ortologa: PDBe RCSB Spisak PDB ID kodova 3GKH, 3GKI, 3GKJ, 5F1B, 5F18, 5HNS, 3JD8, 5I31, 5JNX
Identifikatori
Aliasi	NPC1
Vanjski ID-jevi	OMIM: 607623 MGI: 1097712 HomoloGene: 228 GeneCards: NPC1
Lokacija gena (čovjek) Hrom. Hromosom 18 (čovjek)[1] Bend 18q11.2 Početak 23,506,184 bp[1] Kraj 23,586,506 bp[1]
Lokacija gena (miš) Hrom. Hromosom 18 (miš)[2] Bend 18 A1|18 6.15 cM Početak 12,322,749 bp[2] Kraj 12,369,457 bp[2]
Obrazac RNK ekspresije Više referentnih podataka o ekspresiji
Ontologija gena Molekularna funkcija • virus receptor activity • lipid transporter activity • sterol transporter activity • cholesterol binding • GO:0001948, GO:0016582 vezivanje za proteine • transmembrane signaling receptor activity • signaling receptor activity Ćelijska komponenta • integral component of membrane • Vezikula • endozom • Golđijev aparat • nuclear envelope • membrana • late endosome membrane • ćelijska membrana • integral component of plasma membrane • extracellular region • Endoplazmatski retikulum • perinuklearno područje citoplazme • Lipidni splav • Lizozom • Egzosom • lysosomal membrane • integral component of lysosomal membrane Biološki proces • cellular response to steroid hormone stimulus • steroid metabolic process • response to cadmium ion • Endocitoza • 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 • Autofagija • 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 Transdukcija signala • low-density lipoprotein particle clearance • intracellular cholesterol transport • lipid transport Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	4864	18145
Ensembl	ENSG00000141458	ENSMUSG00000024413
UniProt	O15118	O35604
RefSeq (mRNK)	NM_000271	NM_008720
RefSeq (bjelančevina)	NP_000262	NP_032746
Lokacija (UCSC)	Chr 18: 23.51 – 23.59 Mb	Chr 18: 12.32 – 12.37 Mb
PubMed pretraga	[3]	[4]
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Niemann-Pickova bolest tip C1 (NPC1) je bolest membranskog proteina koji kod sisara posreduje u unutarćelijsom prometu holesterola. Kod ljudi protein je kodiran genom NPC1, sa pozicijom 18q11.^[5][6]

Dužina polipeptidnog lanca je 1.278 aminokiselina, sa molekulsom težinom od 142.167^[7].

Aminokiselinska sekvenca

Simboli

1. ^ ^{a b c} GRCh38: Ensembl release 89: ENSG00000141458 - Ensembl, maj 2017
2. ^ ^{a b c} GRCm38: Ensembl release 89: ENSMUSG00000024413 - Ensembl, maj 2017
3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ "Entrez Gene: NPC1 Niemann-Pick disease, type C1".
6. ^ Carstea ED, Polymeropoulos MH, Parker CC, Detera-Wadleigh SD, O'Neill RR, Patterson MC, et al. (mart 1993). "Linkage of Niemann-Pick disease type C to human chromosome 18". Proceedings of the National Academy of Sciences of the United States of America. 90 (5): 2002–4. Bibcode:1993PNAS...90.2002C. doi:10.1073/pnas.90.5.2002. PMC 46008. PMID 8446622.
7. ^ "UniProt, O15118". Pristupljeno 12. 9. 2017.