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Symbol report for NPC1

Stable symbol

HGNC data for NPC1

Approved symbol
NPC1
Approved name

NPC intracellular cholesterol transporter 1

Locus type
gene with protein product
HGNC ID
HGNC:7897
Symbol status
Approved
Previous names
Niemann-Pick disease, type C1
Alias symbols
SLC65A1
Chromosomal location
18q11.2
Gene groups
Gene resources for NPC1
Ensembl
ENSG00000141458 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
4864 Curated
UCSC
uc002kum.5
Alliance of Genome Resources
HGNC:7897
Nucleotide resources for NPC1
MANE Select
NM_000271.5
ENST00000269228.10
INSDC
AF002020 Curated
ENAGenBankDDBJ
RefSeq
NM_000271 Curated
NCBI sequence viewer
CCDS
CCDS11878 Curated
Protein resources for NPC1
UniProt/Swiss-Prot
O15118
InterProPDBeReactome
AlphaFold
AF-O15118-F1
Orthologs from selected species for NPC1
Bos taurus
NPC1 VGNC:32194 VGNC
Canis familiaris
NPC1 VGNC:43913 VGNC
Equus caballus
NPC1 VGNC:20831 VGNC
Felis catus
NPC1 VGNC:68528 VGNC
Macaca mulatta
NPC1 VGNC:75380 VGNC
Mus musculus
Npc1 MGI:1097712 Curated
Pan troglodytes
NPC1 VGNC:10461 VGNC
Rattus norvegicus
Npc1 RGD:628693
Sus scrofa
NPC1 VGNC:98521 VGNC
Specialist resources for NPC1
IUPHAR/BPS Guide to PHARMACOLOGY
3051
BioParadigms
SLC65A1 Curated
Clinical resources for NPC1
OMIM
607623
GenCC
HGNC:7897
MedlinePlus
Search via NPC1
DECIPHER
Search via NPC1
ClinGen
Search via HGNC:7897
Genetic Testing Registry
Search via NCBI Gene ID 4864
ClinVar
Search via NCBI Gene ID 4864
dbVar
Search via NCBI Gene ID 4864
Orphanet
123868
Other resources for NPC1
AmiGO
Search via O15118
QuickGO
Search via O15118
BioGPS
Search via NCBI Gene ID 4864
GeneCards
Search via HGNC:7897
Monarch
Search via HGNC:7897
WikiGenes
Search via NCBI Gene ID 4864
References for NPC1