Protein name: NPC1 Aliases: N/D Substrates: Cholesterol [PMID: 17989073] [PMID: 17989072] [PMID: 27410046] Transport type: N/D Tissue and cellular expression: Ubiquitous, highest in liver, lung, pancreas [PMID: 10783261]; ubiquitous [PMID: 14976318] Subcellular expression: Late endosomes, lysosomes, trans-Golgi network (TGN) [PMID: 10479477] Disease: Niemann-Pick disease type C [PMID: 8446622] Locus: 18q11.2 Sequence ID: NP_000262.2, NM_000271.4 Gene ID: 4864 Splice variants: N/D

NPC1_HUMAN (UniProt)

Gene names: NPC1
Protein names and data: NPC1_HUMAN, Full=Niemann-Pick C1 protein Length: 1278 a.a., Mass: 142167 Da,
fasta formatted sequence

Database cross-references

UniProt: O15118
OMIM: 257220 607623
Ensembl: ENST00000269228
GeneCard: NPC1
TCDB: 2.A.6.6.1

Genetic variants

See also Ensembl:ENST00000269228