• Gene id: 29881

Gene Summary

• Gene Symbol: NPC1L1   Gene   UCSC   Ensembl
• Aliases: LDLCQ7, NPC11L1, SLC65A2
• Gene name: NPC1 like intracellular cholesterol transporter 1
• Alternate names: NPC1-like intracellular cholesterol transporter 1, NPC1 (Niemann-Pick disease, type C1, gene)-like 1, NPC1 like 1, niemann-Pick C1-like protein 1,
• Gene location: 7p13 (44541650: 44512439)     Exons: 20     NC_000007.14
• Gene summary(Entrez): The protein encoded by this gene is a multi-pass membrane protein. It contains a conserved N-terminal Niemann-Pick C1 (NPC1) domain and a putative sterol-sensing domain (SSD) which includes a YQRL motif functioning as a plasma membrane to trans-Golgi netw
• OMIM: 608010

Protein Summary

• Protein general information: Q9UHC9  
  • Name: NPC1 like intracellular cholesterol transporter 1 (Niemann Pick C1 like protein 1)
  • Length: 1359  
  • Mass: 148728
  • Tissue specificity: Widely expressed. Expressed in liver. Also expressed in small intestine, pancreas, kidney, lung, pancreas, spleen, heart, gall bladder, brain, testis, stomach and muscle. {ECO
• Sequence:

  MAEAGLRGWLLWALLLRLAQSEPYTTIHQPGYCAFYDECGKNPELSGSLMTLSNVSCLSNTPARKITGDHLILLQ
  KICPRLYTGPNTQACCSAKQLVSLEASLSITKALLTRCPACSDNFVNLHCHNTCSPNQSLFINVTRVAQLGAGQL
  PAVVAYEAFYQHSFAEQSYDSCSRVRVPAAATLAVGTMCGVYGSALCNAQRWLNFQGDTGNGLAPLDITFHLLEP
  GQAVGSGIQPLNEGVARCNESQGDDVATCSCQDCAASCPAIARPQALDSTFYLGQMPGSLVLIIILCSVFAVVTI
  LLVGFRVAPARDKSKMVDPKKGTSLSDKLSFSTHTLLGQFFQGWGTWVASWPLTILVLSVIPVVALAAGLVFTEL
  TTDPVELWSAPNSQARSEKAFHDQHFGPFFRTNQVILTAPNRSSYRYDSLLLGPKNFSGILDLDLLLELLELQER
  LRHLQVWSPEAQRNISLQDICYAPLNPDNTSLYDCCINSLLQYFQNNRTLLLLTANQTLMGQTSQVDWKDHFLYC
  ANAPLTFKDGTALALSCMADYGAPVFPFLAIGGYKGKDYSEAEALIMTFSLNNYPAGDPRLAQAKLWEEAFLEEM
  RAFQRRMAGMFQVTFMAERSLEDEINRTTAEDLPIFATSYIVIFLYISLALGSYSSWSRVMVDSKATLGLGGVAV
  VLGAVMAAMGFFSYLGIRSSLVILQVVPFLVLSVGADNIFIFVLEYQRLPRRPGEPREVHIGRALGRVAPSMLLC
  SLSEAICFFLGALTPMPAVRTFALTSGLAVILDFLLQMSAFVALLSLDSKRQEASRLDVCCCVKPQELPPPGQGE
  GLLLGFFQKAYAPFLLHWITRGVVLLLFLALFGVSLYSMCHISVGLDQELALPKDSYLLDYFLFLNRYFEVGAPV
  YFVTTLGYNFSSEAGMNAICSSAGCNNFSFTQKIQYATEFPEQSYLAIPASSWVDDFIDWLTPSSCCRLYISGPN
  KDKFCPSTVNSLNCLKNCMSITMGSVRPSVEQFHKYLPWFLNDRPNIKCPKGGLAAYSTSVNLTSDGQVLDTVAI
  LSPRLEYSGTISAHCNLYLLDSTSRFMAYHKPLKNSQDYTEALRAARELAANITADLRKVPGTDPAFEVFPYTIT
  NVFYEQYLTILPEGLFMLSLCLVPTFAVSCLLLGLDLRSGLLNLLSIVMILVDTVGFMALWGISYNAVSLINLVS
  AVGMSVEFVSHITRSFAISTKPTWLERAKEATISMGSAVFAGVAMTNLPGILVLGLAKAQLIQIFFFRLNLLITL
  LGLLHGLVFLPVILSYVGPDVNPALALEQKRAEEAVAAVMVASCPNHPSRVSTADNIYVNHSFEGSIKGAGAISN
  FLPNNGRQF

• Structural information:
  • Protein Domains: (632..79-)
    (/note="SSD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00199"-)
  • Interpro: IPR032190  IPR003392  IPR000731  
  • Prosite: PS50156
  • PDB: 3QNT
  • PDBsum: 3QNT
  • STRING: ENSP00000289547
• Other Databases: GeneCards:  NPC1L1  Malacards:  NPC1L1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006695	cholesterol biosynthetic process	IMP	biological process
GO:0042157	lipoprotein metabolic process	IMP	biological process
GO:0030299	intestinal cholesterol absorption	IMP	biological process
GO:0030301	cholesterol transport	IMP	biological process
GO:0031489	myosin V binding	IPI	molecular function
GO:0017137	Rab GTPase 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:0016021	integral component of membrane	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0008202	steroid metabolic process	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0098856	intestinal lipid absorption	TAS	biological process
GO:0042493	response to drug	IEA	biological process
GO:0031526	brush border membrane	IEA	cellular component
GO:0008144	drug binding	IEA	molecular function
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0071501	cellular response to sterol depletion	IDA	biological process
GO:0044214	spanning component of plasma membrane	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04975	Fat digestion and absorption

Diseases

Associated diseases	References
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)