• Gene id: 4864

Gene Summary

• Gene Symbol: NPC1   Gene   UCSC   Ensembl
• Aliases: NPC, POGZ, SLC65A1
• Gene name: NPC intracellular cholesterol transporter 1
• Alternate names: NPC intracellular cholesterol transporter 1, Niemann-Pick C1 protein, truncated Niemann-Pick C1,
• Gene location: 18q11.2 (23586505: 23506183)     Exons: 28     NC_000018.10
• Gene summary(Entrez): This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13
• OMIM: 614942

Protein Summary

• Protein general information: O15118  
  • Name: NPC intracellular cholesterol transporter 1 (Niemann Pick C1 protein)
  • Length: 1278  
  • Mass: 142167
• Sequence:

  MTARGLALGLLLLLLCPAQVFSQSCVWYGECGIAYGDKRYNCEYSGPPKPLPKDGYDLVQELCPGFFFGNVSLCC
  DVRQLQTLKDNLQLPLQFLSRCPSCFYNLLNLFCELTCSPRQSQFLNVTATEDYVDPVTNQTKTNVKELQYYVGQ
  SFANAMYNACRDVEAPSSNDKALGLLCGKDADACNATNWIEYMFNKDNGQAPFTITPVFSDFPVHGMEPMNNATK
  GCDESVDEVTAPCSCQDCSIVCGPKPQPPPPPAPWTILGLDAMYVIMWITYMAFLLVFFGAFFAVWCYRKRYFVS
  EYTPIDSNIAFSVNASDKGEASCCDPVSAAFEGCLRRLFTRWGSFCVRNPGCVIFFSLVFITACSSGLVFVRVTT
  NPVDLWSAPSSQARLEKEYFDQHFGPFFRTEQLIIRAPLTDKHIYQPYPSGADVPFGPPLDIQILHQVLDLQIAI
  ENITASYDNETVTLQDICLAPLSPYNTNCTILSVLNYFQNSHSVLDHKKGDDFFVYADYHTHFLYCVRAPASLND
  TSLLHDPCLGTFGGPVFPWLVLGGYDDQNYNNATALVITFPVNNYYNDTEKLQRAQAWEKEFINFVKNYKNPNLT
  ISFTAERSIEDELNRESDSDVFTVVISYAIMFLYISLALGHMKSCRRLLVDSKVSLGIAGILIVLSSVACSLGVF
  SYIGLPLTLIVIEVIPFLVLAVGVDNIFILVQAYQRDERLQGETLDQQLGRVLGEVAPSMFLSSFSETVAFFLGA
  LSVMPAVHTFSLFAGLAVFIDFLLQITCFVSLLGLDIKRQEKNRLDIFCCVRGAEDGTSVQASESCLFRFFKNSY
  SPLLLKDWMRPIVIAIFVGVLSFSIAVLNKVDIGLDQSLSMPDDSYMVDYFKSISQYLHAGPPVYFVLEEGHDYT
  SSKGQNMVCGGMGCNNDSLVQQIFNAAQLDNYTRIGFAPSSWIDDYFDWVKPQSSCCRVDNITDQFCNASVVDPA
  CVRCRPLTPEGKQRPQGGDFMRFLPMFLSDNPNPKCGKGGHAAYSSAVNILLGHGTRVGATYFMTYHTVLQTSAD
  FIDALKKARLIASNVTETMGINGSAYRVFPYSVFYVFYEQYLTIIDDTIFNLGVSLGAIFLVTMVLLGCELWSAV
  IMCATIAMVLVNMFGVMWLWGISLNAVSLVNLVMSCGISVEFCSHITRAFTVSMKGSRVERAEEALAHMGSSVFS
  GITLTKFGGIVVLAFAKSQIFQIFYFRMYLAMVLLGATHGLIFLPVLLSYIGPSVNKAKSCATEERYKGTERERL
  LNF

• Structural information:
  • Protein Domains: (620..78-)
    (/note="SSD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00199"-)
  • Interpro: IPR004765  IPR032190  IPR003392  IPR000731  
  • Prosite: PS50156
  • PDB: 3GKH 3GKI 3GKJ 3JD8 5F18 5F1B 5HNS 5JNX 5KWY 5U73 5U74 6UOX
  • PDBsum: 3GKH 3GKI 3GKJ 3JD8 5F18 5F1B 5HNS 5JNX 5KWY 5U73 5U74 6UOX
  • DIP: 53217
  • STRING: ENSP00000269228
• Other Databases: GeneCards:  NPC1  Malacards:  NPC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042632	cholesterol homeostasis	IMP	biological process
GO:0046718	viral entry into host cell	IMP	biological process
GO:0046718	viral entry into host cell	IMP	biological process
GO:0030301	cholesterol transport	IDA	biological process
GO:0006486	protein glycosylation	IDA	biological process
GO:1905103	integral component of lysosomal membrane	IDA	cellular component
GO:1905103	integral component of lysosomal membrane	IDA	cellular component
GO:0015485	cholesterol binding	IDA	molecular function
GO:0042632	cholesterol homeostasis	IMP	biological process
GO:0005764	lysosome	ISS	cellular component
GO:0005576	extracellular region	ISS	cellular component
GO:0042632	cholesterol homeostasis	IMP	biological process
GO:0032367	intracellular cholesterol transport	IMP	biological process
GO:0032367	intracellular cholesterol transport	IMP	biological process
GO:0032367	intracellular cholesterol transport	IMP	biological process
GO:0005319	lipid transporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0001618	virus receptor activity	IEA	molecular function
GO:0016032	viral process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0008202	steroid metabolic process	IEA	biological process
GO:0006869	lipid transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0038023	signaling receptor activity	TAS	molecular function
GO:0004888	transmembrane signaling receptor activity	TAS	molecular function
GO:0015248	sterol transporter activity	TAS	molecular function
GO:0005764	lysosome	TAS	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:0006914	autophagy	IGI	biological process
GO:0034383	low-density lipoprotein particle clearance	TAS	biological process
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071404	cellular response to low-density lipoprotein particle stimulus	IEA	biological process
GO:0045121	membrane raft	IEA	cellular component
GO:0042632	cholesterol homeostasis	IEA	biological process
GO:0033344	cholesterol efflux	IEA	biological process
GO:0006486	protein glycosylation	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0060548	negative regulation of cell death	IEA	biological process
GO:0046686	response to cadmium ion	IEA	biological process
GO:0071383	cellular response to steroid hormone stimulus	IEA	biological process
GO:0046718	viral entry into host cell	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0031982	vesicle	IEA	cellular component
GO:0016242	negative regulation of macroautophagy	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0007628	adult walking behavior	IEA	biological process
GO:0006897	endocytosis	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005635	nuclear envelope	IEA	cellular component
GO:0033344	cholesterol efflux	IDA	biological process
GO:0031902	late endosome membrane	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0042632	cholesterol homeostasis	IDA	biological process
GO:0090150	establishment of protein localization to membrane	IDA	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005635	nuclear envelope	IDA	cellular component
GO:0031579	membrane raft organization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042632	cholesterol homeostasis	ISS	biological process
GO:0016020	membrane	HDA	cellular component
GO:0008206	bile acid metabolic process	ISS	biological process
GO:0007041	lysosomal transport	ISS	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005765	lysosomal membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04142	Lysosome
hsa04979	Cholesterol metabolism

Diseases

Associated diseases	References
Niemann-Pick disease type C	KEGG:H00136
Niemann-Pick disease type C	KEGG:H00136
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)