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SLC65 NPC-type cholesterol transporters C

Unless otherwise stated all data on this page refer to the human proteins. Gene information is provided for human (Hs), mouse (Mm) and rat (Rn).

Overview

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The SLC65 family of intracellular cholesterol transporters are 13TM membrane proteins. NPC1/SLC65A1 is an intracellular cholesterol transporter, which together with NPC2 (Uniprot ID P61916), allows the accumulation into the cytosol of cholesterol acquired from low density lipoproteins.

Transporters

3051
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NPC intracellular cholesterol transporter 1 / SLC65A1 C Show summary »


Target Id 3051
Nomenclature NPC intracellular cholesterol transporter 1
Systematic nomenclature SLC65A1
Previous and unofficial names Niemann-Pick disease, type C1
Genes NPC1 (Hs), Npc1 (Mm), Npc1 (Rn)
Ensembl ID ENSG00000141458 (Hs), ENSMUSG00000024413 (Mm), ENSRNOG00000012016 (Rn)
UniProtKB AC O15118 (Hs), O35604 (Mm)
RESOLUTE NPC1 (Hs)
Substrates
Cholesterol [7-9]
Comment Expression is ubiquitous [1], with highest levels detected in liver, lung, and pancreas [4]. NPC1 plays a critical role in the regulation of intracellular cholesterol trafficking [3]. Mutations in the NPC1 gene have been identified in patients with the lipid storage disorder Niemann-Pick disease type C1 [2-3,6,10].

NPC1 like intracellular cholesterol transporter 1 / SLC65A2 C Show summary » More detailed page go icon to follow link

Further reading

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References

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How to cite this family page

Database page citation:

SLC65 NPC-type cholesterol transporters. Accessed on 20/04/2024. IUPHAR/BPS Guide to PHARMACOLOGY, http://www.guidetopharmacology.org/GRAC/FamilyDisplayForward?familyId=1017.

Concise Guide to PHARMACOLOGY citation:

Alexander SPH, Fabbro D, Kelly E, Mathie AA, Peters JA, Veale EL, Armstrong JF, Faccenda E, Harding SD, Davies JA et al. (2023) The Concise Guide to PHARMACOLOGY 2023/24: Transporters. Br J Pharmacol. 180 Suppl 2:S374-469.