Q6T3U4 · NPCL1_MOUSE

  • Protein
    NPC1-like intracellular cholesterol transporter 1
  • Gene
    Npc1l1
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Function

function

Plays a major role in cholesterol homeostasis (PubMed:14976318, PubMed:15173162, PubMed:15671032).
Critical for the uptake of cholesterol across the plasma membrane of the intestinal enterocyte (PubMed:15173162, PubMed:15671032).
Involved in plant sterol absorption, it transports sitosterol, although at lower rates than cholesterol (PubMed:15173162).
May have a function in the transport of multiple lipids and their homeostasis, thereby influencing lipid metabolism regulation (PubMed:15671032).
May be involved in caveolin trafficking from the plasma membrane (PubMed:15671032).
Acts as a negative regulator of NPC2 and down-regulates its expression and secretion by inhibiting its maturation and accelerating its degradation (By similarity).

Catalytic activity

GO annotations

AspectTerm
Cellular Componentapical plasma membrane
Cellular Componentbrush border membrane
Cellular Componentplasma membrane
Molecular Functioncholesterol binding
Molecular Functionheterocyclic compound binding
Molecular Functionlipid transporter activity
Molecular Functionprotein homodimerization activity
Biological Processcholesterol homeostasis
Biological Processcholesterol import
Biological Processcholesterol metabolic process
Biological Processcholesterol transport
Biological Processintestinal cholesterol absorption
Biological Processvitamin transport

Keywords

Enzyme and pathway databases

Names & Taxonomy

Protein names

  • Recommended name
    NPC1-like intracellular cholesterol transporter 1
  • Alternative names
    • Niemann-Pick C1-like protein 1
      (Npc1l1
      )

Gene names

    • Name
      Npc1l1

Organism names

  • Taxonomic identifier
  • Strain
    • C57BL/6J
  • Taxonomic lineage
    Eukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Glires > Rodentia > Myomorpha > Muroidea > Muridae > Murinae > Mus > Mus

Accessions

  • Primary accession
    Q6T3U4
  • Secondary accessions
    • Q5SVX1

Proteomes

Organism-specific databases

Subcellular Location

Apical cell membrane ; Multi-pass membrane protein
Cell membrane
; Multi-pass membrane protein
Note: Subfractionation of brush border membranes from proximal enterocytes suggests considerable association with the apical membrane fraction. Exists as a predominantly cell surface membrane expressed protein.

Features

Showing features for topological domain, transmembrane.

TypeIDPosition(s)Description
Topological domain21-284Extracellular
Transmembrane285-305Helical; Name=1
Topological domain306-352Cytoplasmic
Transmembrane353-373Helical; Name=2
Topological domain374-632Extracellular
Transmembrane633-653Helical; Name=3
Topological domain654-665Cytoplasmic
Transmembrane666-686Helical; Name=4
Topological domain687-696Extracellular
Transmembrane697-717Helical; Name=5
Topological domain718-742Cytoplasmic
Transmembrane743-763Helical; Name=6
Topological domain764-776Extracellular
Transmembrane777-797Helical; Name=7
Topological domain798-846Cytoplasmic
Transmembrane847-867Helical; Name=8
Topological domain868-1113Extracellular
Transmembrane1114-1134Helical; Name=9
Topological domain1135-1142Cytoplasmic
Transmembrane1143-1163Helical; Name=10
Topological domain1164-1165Extracellular
Transmembrane1166-1186Helical; Name=11
Topological domain1187-1206Cytoplasmic
Transmembrane1207-1227Helical; Name=12
Topological domain1228-1242Extracellular
Transmembrane1243-1263Helical; Name=13
Topological domain1264-1333Cytoplasmic

Keywords

Phenotypes & Variants

Disruption phenotype

Mice have multiple lipid transport defects and have a protective effect against diet-induced hyperlipidemia. They have also a deregulation of CAV1 transport and localization, suggesting that the observed lipid transport defect may be the indirect result of an inability of cells to properly target and/or regulate CAV1 expression.

Chemistry

PTM/Processing

Features

Showing features for signal, chain, disulfide bond.

TypeIDPosition(s)Description
Signal1-20
ChainPRO_000002326721-1333NPC1-like intracellular cholesterol transporter 1
Disulfide bond32↔90
Disulfide bond38↔56
Disulfide bond77↔125
Disulfide bond91↔129
Disulfide bond113↔254
Disulfide bond116↔172
Disulfide bond189↔197
Disulfide bond243↔259
Disulfide bond256↔263
Disulfide bond471↔485
Disulfide bond525↔542
Disulfide bond920↔925
Disulfide bond967↔1025
Disulfide bond981↔990

Post-translational modification

Highly glycosylated.

Keywords

Proteomic databases

PTM databases

Expression

Tissue specificity

Expressed in small intestine, stomach and muscle, along with detectable expression in lung, heart, gall bladder, brain, testis, skin and liver. Expression in liver is extremely low.

Induction

Cholesterol/cholate feeding resulted in down-regulation of intestinal expression. Expression is decreased by 35% in the jejunum upon PPARD activation.

Interaction

Subunit

Interacts with RAB11A, MYO5B and RAB11FIP2. Interaction with RAB11A, MYO5B and RAB11FIP2 is required for proper transport to the plasma membrane upon cholesterol depletion (By similarity).
Interacts with NPC2 (By similarity).
Interacts with LIMA1 (PubMed:29880681).

Protein-protein interaction databases

Chemistry

Miscellaneous

Structure

Family & Domains

Features

Showing features for domain.

TypeIDPosition(s)Description
Domain632-797SSD

Sequence similarities

Belongs to the patched family.

Keywords

Phylogenomic databases

Family and domain databases

Sequence

  • Sequence status
    Complete
  • Sequence processing
    The displayed sequence is further processed into a mature form.
  • Length
    1,333
  • Mass (Da)
    147,132
  • Last updated
    2004-07-05 v1
  • Checksum
    7771520D9B352735
MAAAWQGWLLWALLLNSAQGELYTPTHKAGFCTFYEECGKNPELSGGLTSLSNISCLSNTPARHVTGDHLALLQRVCPRLYNGPNDTYACCSTKQLVSLDSSLSITKALLTRCPACSENFVSIHCHNTCSPDQSLFINVTRVVQRDPGQLPAVVAYEAFYQRSFAEKAYESCSRVRIPAAASLAVGSMCGVYGSALCNAQRWLNFQGDTGNGLAPLDITFHLLEPGQALADGMKPLDGKITPCNESQGEDSAACSCQDCAASCPVIPPPPALRPSFYMGRMPGWLALIIIFTAVFVLLSVVLVYLRVASNRNKNKTAGSQEAPNLPRKRRFSPHTVLGRFFESWGTRVASWPLTVLALSFIVVIALSVGLTFIELTTDPVELWSAPKSQARKEKAFHDEHFGPFFRTNQIFVTAKNRSSYKYDSLLLGPKNFSGILSLDLLQELLELQERLRHLQVWSHEAQRNISLQDICYAPLNPHNTSLTDCCVNSLLQYFQNNHTLLLLTANQTLNGQTSLVDWKDHFLYCANAPLTYKDGTALALSCIADYGAPVFPFLAVGGYQGTDYSEAEALIITFSINNYPADDPRMAHAKLWEEAFLKEMQSFQRSTADKFQIAFSAERSLEDEINRTTIQDLPVFAISYLIVFLYISLALGSYSRWSRVAVDSKATLGLGGVAVVLGAVVAAMGFYSYLGVPSSLVIIQVVPFLVLAVGADNIFIFVLEYQRLPRMPGEQREAHIGRTLGSVAPSMLLCSLSEAICFFLGALTSMPAVRTFALTSGLAIIFDFLLQMTAFVALLSLDSKRQEASRPDVVCCFSSRNLPPPKQKEGLLLCFFRKIYTPFLLHRFIRPVVLLLFLVLFGANLYLMCNISVGLDQDLALPKDSYLIDYFLFLNRYLEVGPPVYFDTTSGYNFSTEAGMNAICSSAGCESFSLTQKIQYASEFPNQSYVAIAASSWVDDFIDWLTPSSSCCRIYTRGPHKDEFCPSTDTSFNCLKNCMNRTLGPVRPTTEQFHKYLPWFLNDTPNIRCPKGGLAAYRTSVNLSSDGQIIASQFMAYHKPLRNSQDFTEALRASRLLAANITAELRKVPGTDPNFEVFPYTISNVFYQQYLTVLPEGIFTLALCFVPTFVVCYLLLGLDIRSGILNLLSIIMILVDTIGLMAVWGISYNAVSLINLVTAVGMSVEFVSHITRSFAVSTKPTRLERAKDATIFMGSAVFAGVAMTNFPGILILGFAQAQLIQIFFFRLNLLITLLGLLHGLVFLPVVLSYLGPDVNQALVLEEKLATEAAMVSEPSCPQYPFPADANTSDYVNYGFNPEFIPEINAASSSLPKSDQKF

Computationally mapped potential isoform sequences

There is 1 potential isoform mapped to this entry

View all
EntryEntry nameGene nameLength
Z4YJC9Z4YJC9_MOUSENpc1l11333

Features

Showing features for sequence conflict.

TypeIDPosition(s)Description
Sequence conflict476in Ref. 2; CAI24395

Keywords

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
AY437866
EMBL· GenBank· DDBJ
AAR97887.1
EMBL· GenBank· DDBJ
mRNA
AL607152
EMBL· GenBank· DDBJ
CAI24395.1
EMBL· GenBank· DDBJ
Genomic DNA

Similar Proteins

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