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MGI:Npc2

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Contents

Species (Taxon ID) Mus musculus (house mouse) (taxon:10090)
Gene Name(s) Npc2 ( synonyms: HE1 )
Protein Name(s) Niemann Pick type C2,
External Links
MGI MGI:1915213

Annotations

Qualifier GO ID GO term name Reference Evidence Code with/from Aspect Notes Status
GO:0005576

extracellular region

MGI:MGI:1354194

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0964

C

From MGI

GO:0005622

intracellular

MGI:MGI:3763329
PMID:17018531[1]

IMP: Inferred from Mutant Phenotype

C

From MGI

GO:0005764

lysosome

MGI:MGI:3763310
PMID:11125141[2]

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:P61916

C

From MGI

GO:0005764

lysosome

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P61916

C

From MGI

GO:0015485

cholesterol binding

MGI:MGI:3763329
PMID:17018531[1]

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:P61916

F

From MGI

GO:0015485

cholesterol binding

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P61916

F

From MGI

GO:0019899

enzyme binding

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P61916

F

From MGI

GO:0030301

cholesterol transport

MGI:MGI:3763329
PMID:17018531[1]

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:P61916

P

From MGI

GO:0030301

cholesterol transport

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P61916

P

From MGI

GO:0032366

intracellular sterol transport

MGI:MGI:3763329
PMID:17018531[1]

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:P61916

P

From MGI

GO:0032366

intracellular sterol transport

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P61916

P

From MGI

GO:0032367

intracellular cholesterol transport

MGI:MGI:3763329
PMID:17018531[1]

IMP: Inferred from Mutant Phenotype

P

From MGI

GO:0032367

intracellular cholesterol transport

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P61916

P

From MGI

GO:0033344

cholesterol efflux

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P61916

P

From MGI

GO:0042632

cholesterol homeostasis

MGI:MGI:3763308
PMID:12719428[3]

ISS: Inferred from Sequence or Structural Similarity

UniProtKB:P61916

P

From MGI

GO:0042632

cholesterol homeostasis

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P61916

P

From MGI


Notes

References

See Help:References for how to manage references in GONUTS.
  1. 1.0 1.1 1.2 1.3 1.4 Liou HL et al. (2006) NPC2, the protein deficient in Niemann-Pick C2 disease, consists of multiple glycoforms that bind a variety of sterols. J Biol Chem 281: 36710-23 PubMed GONUTS page
  2. Naureckiene S et al. (2000) Identification of HE1 as the second gene of Niemann-Pick C disease. Science 290: 2298-301 PubMed GONUTS page
  3. Frolov A et al. (2003) NPC1 and NPC2 regulate cellular cholesterol homeostasis through generation of low density lipoprotein cholesterol-derived oxysterols. J Biol Chem 278: 25517-25 PubMed GONUTS page
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