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Q9UHC9

- NPCL1_HUMAN

UniProt

Q9UHC9 - NPCL1_HUMAN

Protein

Niemann-Pick C1-like protein 1

Gene

NPC1L1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 112 (01 Oct 2014)
      Sequence version 2 (28 Nov 2012)
      Previous versions | rss
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    Functioni

    Plays a major role in cholesterol homeostasis. Is critical for the uptake of cholesterol across the plasma membrane of the intestinal enterocyte. Is the direct molecular target of ezetimibe, a drug that inhibits cholesterol absorption. Lack of activity leads to multiple lipid transport defects. The protein may have a function in the transport of multiple lipids and their homeostasis, and may play a critical role in regulating lipid metabolism. Acts as a negative regulator of NPC2 and down-regulates its expression and secretion by inhibiting its maturation and accelerating its degradation.2 Publications

    GO - Molecular functioni

    1. drug binding Source: Ensembl
    2. hedgehog receptor activity Source: InterPro
    3. myosin V binding Source: UniProtKB
    4. protein binding Source: UniProtKB
    5. Rab GTPase binding Source: UniProtKB

    GO - Biological processi

    1. cholesterol biosynthetic process Source: HGNC
    2. cholesterol transport Source: HGNC
    3. intestinal cholesterol absorption Source: HGNC
    4. lipoprotein metabolic process Source: HGNC
    5. response to drug Source: Ensembl
    6. small molecule metabolic process Source: Reactome
    7. sterol transport Source: Reactome

    Keywords - Biological processi

    Cholesterol metabolism, Lipid metabolism, Steroid metabolism, Sterol metabolism

    Enzyme and pathway databases

    ReactomeiREACT_13781. Trafficking of dietary sterols.

    Protein family/group databases

    TCDBi2.A.6.6.6. the resistance-nodulation-cell division (rnd) superfamily.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Niemann-Pick C1-like protein 1
    Gene namesi
    Name:NPC1L1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:7898. NPC1L1.

    Subcellular locationi

    Apical cell membrane 1 Publication; Multi-pass membrane protein 1 Publication. Cell membrane By similarity; Multi-pass membrane protein By similarity. Cytoplasmic vesicle membrane 1 Publication; Multi-pass membrane protein 1 Publication
    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 By similarity. According to PubMed:15671032, localizes in a subcellular vesicular compartment rich in RAB5.By similarity

    GO - Cellular componenti

    1. apical plasma membrane Source: UniProtKB-SubCell
    2. brush border membrane Source: Ensembl
    3. cytoplasmic vesicle membrane Source: UniProtKB-SubCell
    4. integral component of membrane Source: UniProtKB
    5. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Cell membrane, Cytoplasmic vesicle, Membrane

    Pathology & Biotechi

    Organism-specific databases

    MIMi608010. gene+phenotype.
    PharmGKBiPA31699.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2121Sequence AnalysisAdd
    BLAST
    Chaini22 – 13591338Niemann-Pick C1-like protein 1PRO_0000023266Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi54 – 541N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi132 – 1321N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi138 – 1381N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi244 – 2441N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi416 – 4161N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi431 – 4311N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi464 – 4641N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi479 – 4791N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi497 – 4971N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi506 – 5061N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi626 – 6261N-linked (GlcNAc...)Sequence Analysis

    Post-translational modificationi

    Highly glycosylated.By similarity

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ9UHC9.
    PRIDEiQ9UHC9.

    PTM databases

    PhosphoSiteiQ9UHC9.

    Expressioni

    Tissue specificityi

    Widely expressed. Expressed in liver. Also expressed in small intestine, pancreas, kidney, lung, pancreas, spleen, heart, gall bladder, brain, testis, stomach and muscle.3 Publications

    Inductioni

    Expression is decreased in Caco-2 cells upon PPARD activation.1 Publication

    Gene expression databases

    ArrayExpressiQ9UHC9.
    BgeeiQ9UHC9.
    CleanExiHS_NPC1L1.
    GenevestigatoriQ9UHC9.

    Organism-specific databases

    HPAiHPA018105.

    Interactioni

    Subunit structurei

    Interacts with RAB11A, MYO5B and RAB11FIP2. Interaction with RAB11A, MYO5B and RAB11FIP2 is required for proper transport to the plasma membrane upon cholesterol depletion. Interacts with NPC2.2 Publications

    Protein-protein interaction databases

    BioGridi118936. 1 interaction.
    IntActiQ9UHC9. 1 interaction.
    STRINGi9606.ENSP00000289547.

    Structurei

    Secondary structure

    1
    1359
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi34 – 407
    Beta strandi47 – 493
    Beta strandi55 – 584
    Helixi68 – 7710
    Helixi79 – 813
    Beta strandi84 – 863
    Beta strandi88 – 903
    Helixi93 – 10917
    Turni110 – 1123
    Helixi114 – 12916
    Helixi133 – 1353
    Beta strandi137 – 1437
    Beta strandi146 – 1494
    Beta strandi152 – 16110
    Helixi162 – 17211
    Helixi186 – 1883
    Beta strandi194 – 1963
    Helixi199 – 2068
    Turni209 – 2124
    Beta strandi215 – 2239
    Helixi225 – 2284
    Turni248 – 2503
    Turni256 – 2583
    Helixi260 – 2623

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    3QNTX-ray2.83A22-284[»]
    ProteinModelPortaliQ9UHC9.
    SMRiQ9UHC9. Positions 22-265.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini22 – 284263ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini306 – 35146CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini373 – 632260ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini654 – 66613CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini688 – 6969ExtracellularSequence Analysis
    Topological domaini718 – 74225CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini764 – 77613ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini798 – 84649CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini868 – 88215ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini904 – 1139236CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1161 – 11688ExtracellularSequence Analysis
    Topological domaini1190 – 11912CytoplasmicSequence Analysis
    Topological domaini1213 – 123624ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1258 – 1359102CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei285 – 30521Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei352 – 37221Helical; Name=2Sequence AnalysisAdd
    BLAST
    Transmembranei633 – 65321Helical; Name=3Sequence AnalysisAdd
    BLAST
    Transmembranei667 – 68721Helical; Name=4Sequence AnalysisAdd
    BLAST
    Transmembranei697 – 71721Helical; Name=5Sequence AnalysisAdd
    BLAST
    Transmembranei743 – 76321Helical; Name=6Sequence AnalysisAdd
    BLAST
    Transmembranei777 – 79721Helical; Name=7Sequence AnalysisAdd
    BLAST
    Transmembranei847 – 86721Helical; Name=8Sequence AnalysisAdd
    BLAST
    Transmembranei883 – 90321Helical; Name=9Sequence AnalysisAdd
    BLAST
    Transmembranei1140 – 116021Helical; Name=10Sequence AnalysisAdd
    BLAST
    Transmembranei1169 – 118921Helical; Name=11Sequence AnalysisAdd
    BLAST
    Transmembranei1192 – 121221Helical; Name=12Sequence AnalysisAdd
    BLAST
    Transmembranei1237 – 125721Helical; Name=13Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini632 – 797166SSDPROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi500 – 5034Poly-Leu

    Sequence similaritiesi

    Belongs to the patched family.Curated
    Contains 1 SSD (sterol-sensing) domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG149152.
    HOGENOMiHOG000036674.
    HOVERGENiHBG003913.
    InParanoidiQ9UHC9.
    KOiK14461.
    OMAiLQMTAFV.
    OrthoDBiEOG7QRQT0.
    PhylomeDBiQ9UHC9.
    TreeFamiTF300416.

    Family and domain databases

    InterProiIPR003392. Patched.
    IPR000731. SSD.
    [Graphical view]
    PfamiPF02460. Patched. 1 hit.
    [Graphical view]
    PROSITEiPS50156. SSD. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9UHC9-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAEAGLRGWL LWALLLRLAQ SEPYTTIHQP GYCAFYDECG KNPELSGSLM     50
    TLSNVSCLSN TPARKITGDH LILLQKICPR LYTGPNTQAC CSAKQLVSLE 100
    ASLSITKALL TRCPACSDNF VNLHCHNTCS PNQSLFINVT RVAQLGAGQL 150
    PAVVAYEAFY QHSFAEQSYD SCSRVRVPAA ATLAVGTMCG VYGSALCNAQ 200
    RWLNFQGDTG NGLAPLDITF HLLEPGQAVG SGIQPLNEGV ARCNESQGDD 250
    VATCSCQDCA ASCPAIARPQ ALDSTFYLGQ MPGSLVLIII LCSVFAVVTI 300
    LLVGFRVAPA RDKSKMVDPK KGTSLSDKLS FSTHTLLGQF FQGWGTWVAS 350
    WPLTILVLSV IPVVALAAGL VFTELTTDPV ELWSAPNSQA RSEKAFHDQH 400
    FGPFFRTNQV ILTAPNRSSY RYDSLLLGPK NFSGILDLDL LLELLELQER 450
    LRHLQVWSPE AQRNISLQDI CYAPLNPDNT SLYDCCINSL LQYFQNNRTL 500
    LLLTANQTLM GQTSQVDWKD HFLYCANAPL TFKDGTALAL SCMADYGAPV 550
    FPFLAIGGYK GKDYSEAEAL IMTFSLNNYP AGDPRLAQAK LWEEAFLEEM 600
    RAFQRRMAGM FQVTFMAERS LEDEINRTTA EDLPIFATSY IVIFLYISLA 650
    LGSYSSWSRV MVDSKATLGL GGVAVVLGAV MAAMGFFSYL GIRSSLVILQ 700
    VVPFLVLSVG ADNIFIFVLE YQRLPRRPGE PREVHIGRAL GRVAPSMLLC 750
    SLSEAICFFL GALTPMPAVR TFALTSGLAV ILDFLLQMSA FVALLSLDSK 800
    RQEASRLDVC CCVKPQELPP PGQGEGLLLG FFQKAYAPFL LHWITRGVVL 850
    LLFLALFGVS LYSMCHISVG LDQELALPKD SYLLDYFLFL NRYFEVGAPV 900
    YFVTTLGYNF SSEAGMNAIC SSAGCNNFSF TQKIQYATEF PEQSYLAIPA 950
    SSWVDDFIDW LTPSSCCRLY ISGPNKDKFC PSTVNSLNCL KNCMSITMGS 1000
    VRPSVEQFHK YLPWFLNDRP NIKCPKGGLA AYSTSVNLTS DGQVLDTVAI 1050
    LSPRLEYSGT ISAHCNLYLL DSTSRFMAYH KPLKNSQDYT EALRAARELA 1100
    ANITADLRKV PGTDPAFEVF PYTITNVFYE QYLTILPEGL FMLSLCLVPT 1150
    FAVSCLLLGL DLRSGLLNLL SIVMILVDTV GFMALWGISY NAVSLINLVS 1200
    AVGMSVEFVS HITRSFAIST KPTWLERAKE ATISMGSAVF AGVAMTNLPG 1250
    ILVLGLAKAQ LIQIFFFRLN LLITLLGLLH GLVFLPVILS YVGPDVNPAL 1300
    ALEQKRAEEA VAAVMVASCP NHPSRVSTAD NIYVNHSFEG SIKGAGAISN 1350
    FLPNNGRQF 1359
    Length:1,359
    Mass (Da):148,728
    Last modified:November 28, 2012 - v2
    Checksum:i594F698B48D66DE7
    GO
    Isoform 2 (identifier: Q9UHC9-2) [UniParc]FASTAAdd to Basket

    Also known as: NPC1L1DELTAE15

    The sequence of this isoform differs from the canonical sequence as follows:
         1046-1072: Missing.

    Show »
    Length:1,332
    Mass (Da):145,794
    Checksum:i8483F336EBFD3EA3
    GO
    Isoform 3 (identifier: Q9UHC9-3) [UniParc]FASTAAdd to Basket

    Also known as: NPCL1T

    The sequence of this isoform differs from the canonical sequence as follows:
         723-724: RL → GP
         725-1359: Missing.

    Show »
    Length:724
    Mass (Da):79,138
    Checksum:i15564FF42565270F
    GO
    Isoform 4 (identifier: Q9UHC9-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         850-895: Missing.
         1046-1072: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:1,286
    Mass (Da):140,420
    Checksum:iFC91AF3FB1E01918
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti1073 – 10731T → A in AAF20396. (PubMed:10783261)Curated
    Sequence conflicti1073 – 10731T → A in AAI43757. (PubMed:15489334)Curated

    Polymorphismi

    Variations in NPC1L1 gene could be associated with non-response to ezetimibe treatment.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti55 – 551V → L Non-response to ezetimibe treatment. 1 Publication
    VAR_023369
    Natural varianti510 – 5101M → I.
    Corresponds to variant rs1468384 [ dbSNP | Ensembl ].
    VAR_056659
    Natural varianti1233 – 12331I → N.1 Publication
    Corresponds to variant rs52815063 [ dbSNP | Ensembl ].
    VAR_023370
    Natural varianti1308 – 13081E → K.
    Corresponds to variant rs217435 [ dbSNP | Ensembl ].
    VAR_056660

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei723 – 7242RL → GP in isoform 3. 1 PublicationVSP_015312
    Alternative sequencei725 – 1359635Missing in isoform 3. 1 PublicationVSP_015313Add
    BLAST
    Alternative sequencei850 – 89546Missing in isoform 4. 1 PublicationVSP_054503Add
    BLAST
    Alternative sequencei1046 – 107227Missing in isoform 2 and isoform 4. 4 PublicationsVSP_015314Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF192522 mRNA. Translation: AAF20396.1.
    AF192523 mRNA. Translation: AAF20397.1.
    AY515256 mRNA. Translation: AAS56939.1.
    AY437865 mRNA. Translation: AAR97886.1.
    FJ481111 mRNA. Translation: ACL18055.1.
    AC004938 Genomic DNA. No translation available.
    CH236960 Genomic DNA. Translation: EAL23753.1.
    CH471128 Genomic DNA. Translation: EAW61096.1.
    CH471128 Genomic DNA. Translation: EAW61097.1.
    CH471128 Genomic DNA. Translation: EAW61098.1.
    BC117178 mRNA. Translation: AAI17179.1.
    BC143756 mRNA. Translation: AAI43757.1.
    CCDSiCCDS43575.1. [Q9UHC9-2]
    CCDS5491.1. [Q9UHC9-1]
    RefSeqiNP_001095118.1. NM_001101648.1.
    NP_037521.2. NM_013389.2. [Q9UHC9-1]
    XP_006715772.1. XM_006715709.1. [Q9UHC9-3]
    UniGeneiHs.567486.

    Genome annotation databases

    EnsembliENST00000289547; ENSP00000289547; ENSG00000015520. [Q9UHC9-1]
    ENST00000381160; ENSP00000370552; ENSG00000015520.
    ENST00000423141; ENSP00000404670; ENSG00000015520. [Q9UHC9-3]
    ENST00000546276; ENSP00000438033; ENSG00000015520.
    GeneIDi29881.
    KEGGihsa:29881.
    UCSCiuc003tlb.3. human. [Q9UHC9-1]
    uc003tlc.3. human. [Q9UHC9-2]
    uc003tld.3. human. [Q9UHC9-3]

    Polymorphism databases

    DMDMi425906049.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF192522 mRNA. Translation: AAF20396.1 .
    AF192523 mRNA. Translation: AAF20397.1 .
    AY515256 mRNA. Translation: AAS56939.1 .
    AY437865 mRNA. Translation: AAR97886.1 .
    FJ481111 mRNA. Translation: ACL18055.1 .
    AC004938 Genomic DNA. No translation available.
    CH236960 Genomic DNA. Translation: EAL23753.1 .
    CH471128 Genomic DNA. Translation: EAW61096.1 .
    CH471128 Genomic DNA. Translation: EAW61097.1 .
    CH471128 Genomic DNA. Translation: EAW61098.1 .
    BC117178 mRNA. Translation: AAI17179.1 .
    BC143756 mRNA. Translation: AAI43757.1 .
    CCDSi CCDS43575.1. [Q9UHC9-2 ]
    CCDS5491.1. [Q9UHC9-1 ]
    RefSeqi NP_001095118.1. NM_001101648.1.
    NP_037521.2. NM_013389.2. [Q9UHC9-1 ]
    XP_006715772.1. XM_006715709.1. [Q9UHC9-3 ]
    UniGenei Hs.567486.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    3QNT X-ray 2.83 A 22-284 [» ]
    ProteinModelPortali Q9UHC9.
    SMRi Q9UHC9. Positions 22-265.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 118936. 1 interaction.
    IntActi Q9UHC9. 1 interaction.
    STRINGi 9606.ENSP00000289547.

    Chemistry

    BindingDBi Q9UHC9.
    ChEMBLi CHEMBL2027.
    DrugBanki DB00973. Ezetimibe.
    GuidetoPHARMACOLOGYi 2629.

    Protein family/group databases

    TCDBi 2.A.6.6.6. the resistance-nodulation-cell division (rnd) superfamily.

    PTM databases

    PhosphoSitei Q9UHC9.

    Polymorphism databases

    DMDMi 425906049.

    Proteomic databases

    PaxDbi Q9UHC9.
    PRIDEi Q9UHC9.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000289547 ; ENSP00000289547 ; ENSG00000015520 . [Q9UHC9-1 ]
    ENST00000381160 ; ENSP00000370552 ; ENSG00000015520 .
    ENST00000423141 ; ENSP00000404670 ; ENSG00000015520 . [Q9UHC9-3 ]
    ENST00000546276 ; ENSP00000438033 ; ENSG00000015520 .
    GeneIDi 29881.
    KEGGi hsa:29881.
    UCSCi uc003tlb.3. human. [Q9UHC9-1 ]
    uc003tlc.3. human. [Q9UHC9-2 ]
    uc003tld.3. human. [Q9UHC9-3 ]

    Organism-specific databases

    CTDi 29881.
    GeneCardsi GC07M044552.
    H-InvDB HIX0201184.
    HGNCi HGNC:7898. NPC1L1.
    HPAi HPA018105.
    MIMi 608010. gene+phenotype.
    neXtProti NX_Q9UHC9.
    PharmGKBi PA31699.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG149152.
    HOGENOMi HOG000036674.
    HOVERGENi HBG003913.
    InParanoidi Q9UHC9.
    KOi K14461.
    OMAi LQMTAFV.
    OrthoDBi EOG7QRQT0.
    PhylomeDBi Q9UHC9.
    TreeFami TF300416.

    Enzyme and pathway databases

    Reactomei REACT_13781. Trafficking of dietary sterols.

    Miscellaneous databases

    GenomeRNAii 29881.
    NextBioi 35481277.
    PROi Q9UHC9.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UHC9.
    Bgeei Q9UHC9.
    CleanExi HS_NPC1L1.
    Genevestigatori Q9UHC9.

    Family and domain databases

    InterProi IPR003392. Patched.
    IPR000731. SSD.
    [Graphical view ]
    Pfami PF02460. Patched. 1 hit.
    [Graphical view ]
    PROSITEi PS50156. SSD. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Evidence for a Niemann-Pick C (NPC) gene family: identification and characterization of NPC1L1."
      Davies J.P., Levy B., Ioannou Y.A.
      Genomics 65:137-145(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3), TISSUE SPECIFICITY.
    2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY.
    3. "Membrane topology of human NPC1L1, a key protein in enterohepatic cholesterol absorption."
      Wang J., Chu B.-B., Ge L., Li B.-L., Yan Y., Song B.L.
      J. Lipid Res. 50:1653-1662(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TOPOLOGY.
    4. "The DNA sequence of human chromosome 7."
      Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
      , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
      Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "Human chromosome 7: DNA sequence and biology."
      Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S.
      , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
      Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 4).
      Tissue: Liver.
    8. "Inactivation of NPC1L1 causes multiple lipid transport defects and protects against diet-induced hypercholesterolemia."
      Davies J.P., Scott C., Oishi K., Liapis A., Ioannou Y.A.
      J. Biol. Chem. 280:12710-12720(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
    9. "Reduced cholesterol absorption upon PPARdelta activation coincides with decreased intestinal expression of NPC1L1."
      van der Veen J.N., Kruit J.K., Havinga R., Baller J.F.W., Chimini G., Lestavel S., Staels B., Groot P.H.E., Groen A.K., Kuipers F.
      J. Lipid Res. 46:526-534(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INDUCTION.
    10. Cited for: FUNCTION.
    11. "Requirement of myosin Vb.Rab11a.Rab11-FIP2 complex in cholesterol-regulated translocation of NPC1L1 to the cell surface."
      Chu B.-B., Ge L., Xie C., Zhao Y., Miao H.-H., Wang J., Li B.-L., Song B.-L.
      J. Biol. Chem. 284:22481-22490(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH RAB11A; MYO5B AND RAB11FIP2.
    12. "Novel function of Niemann-Pick C1-like 1 as a negative regulator of Niemann-Pick C2 protein."
      Yamanashi Y., Takada T., Shoda J., Suzuki H.
      Hepatology 55:953-964(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH NPC2.
    13. "Compound heterozygosity for two non-synonymous polymorphisms in NPC1L1 in a non-responder to ezetimibe."
      Wang J., Williams C.M., Hegele R.A.
      Clin. Genet. 67:175-177(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS LEU-55 AND ASN-1233.

    Entry informationi

    Entry nameiNPCL1_HUMAN
    AccessioniPrimary (citable) accession number: Q9UHC9
    Secondary accession number(s): A4D2J7
    , B7ZLE6, D3DVK9, Q17RV5, Q6R3Q4, Q9UHC8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 30, 2005
    Last sequence update: November 28, 2012
    Last modified: October 1, 2014
    This is version 112 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 7
      Human chromosome 7: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3