Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q9UHC9

- NPCL1_HUMAN

UniProt

Q9UHC9 - NPCL1_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

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

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. 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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini22 – 284263ExtracellularSequence AnalysisAdd
BLAST
Transmembranei285 – 30521Helical; Name=1Sequence AnalysisAdd
BLAST
Topological domaini306 – 35146CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei352 – 37221Helical; Name=2Sequence AnalysisAdd
BLAST
Topological domaini373 – 632260ExtracellularSequence AnalysisAdd
BLAST
Transmembranei633 – 65321Helical; Name=3Sequence AnalysisAdd
BLAST
Topological domaini654 – 66613CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei667 – 68721Helical; Name=4Sequence AnalysisAdd
BLAST
Topological domaini688 – 6969ExtracellularSequence Analysis
Transmembranei697 – 71721Helical; Name=5Sequence AnalysisAdd
BLAST
Topological domaini718 – 74225CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei743 – 76321Helical; Name=6Sequence AnalysisAdd
BLAST
Topological domaini764 – 77613ExtracellularSequence AnalysisAdd
BLAST
Transmembranei777 – 79721Helical; Name=7Sequence AnalysisAdd
BLAST
Topological domaini798 – 84649CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei847 – 86721Helical; Name=8Sequence AnalysisAdd
BLAST
Topological domaini868 – 88215ExtracellularSequence AnalysisAdd
BLAST
Transmembranei883 – 90321Helical; Name=9Sequence AnalysisAdd
BLAST
Topological domaini904 – 1139236CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei1140 – 116021Helical; Name=10Sequence AnalysisAdd
BLAST
Topological domaini1161 – 11688ExtracellularSequence Analysis
Transmembranei1169 – 118921Helical; Name=11Sequence AnalysisAdd
BLAST
Topological domaini1190 – 11912CytoplasmicSequence Analysis
Transmembranei1192 – 121221Helical; Name=12Sequence AnalysisAdd
BLAST
Topological domaini1213 – 123624ExtracellularSequence AnalysisAdd
BLAST
Transmembranei1237 – 125721Helical; Name=13Sequence AnalysisAdd
BLAST
Topological domaini1258 – 1359102CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. brush border membrane Source: Ensembl
  2. cytoplasmic vesicle Source: UniProtKB-KW
  3. integral component of membrane Source: UniProtKB
  4. plasma membrane Source: Reactome
Complete GO annotation...

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

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 – 407Combined sources
Beta strandi47 – 493Combined sources
Beta strandi55 – 584Combined sources
Helixi68 – 7710Combined sources
Helixi79 – 813Combined sources
Beta strandi84 – 863Combined sources
Beta strandi88 – 903Combined sources
Helixi93 – 10917Combined sources
Turni110 – 1123Combined sources
Helixi114 – 12916Combined sources
Helixi133 – 1353Combined sources
Beta strandi137 – 1437Combined sources
Beta strandi146 – 1494Combined sources
Beta strandi152 – 16110Combined sources
Helixi162 – 17211Combined sources
Helixi186 – 1883Combined sources
Beta strandi194 – 1963Combined sources
Helixi199 – 2068Combined sources
Turni209 – 2124Combined sources
Beta strandi215 – 2239Combined sources
Helixi225 – 2284Combined sources
Turni248 – 2503Combined sources
Turni256 – 2583Combined sources
Helixi260 – 2623Combined sources

3D structure databases

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

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.
GeneTreeiENSGT00760000119174.
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

        10         20         30         40         50
MAEAGLRGWL LWALLLRLAQ SEPYTTIHQP GYCAFYDECG KNPELSGSLM
60 70 80 90 100
TLSNVSCLSN TPARKITGDH LILLQKICPR LYTGPNTQAC CSAKQLVSLE
110 120 130 140 150
ASLSITKALL TRCPACSDNF VNLHCHNTCS PNQSLFINVT RVAQLGAGQL
160 170 180 190 200
PAVVAYEAFY QHSFAEQSYD SCSRVRVPAA ATLAVGTMCG VYGSALCNAQ
210 220 230 240 250
RWLNFQGDTG NGLAPLDITF HLLEPGQAVG SGIQPLNEGV ARCNESQGDD
260 270 280 290 300
VATCSCQDCA ASCPAIARPQ ALDSTFYLGQ MPGSLVLIII LCSVFAVVTI
310 320 330 340 350
LLVGFRVAPA RDKSKMVDPK KGTSLSDKLS FSTHTLLGQF FQGWGTWVAS
360 370 380 390 400
WPLTILVLSV IPVVALAAGL VFTELTTDPV ELWSAPNSQA RSEKAFHDQH
410 420 430 440 450
FGPFFRTNQV ILTAPNRSSY RYDSLLLGPK NFSGILDLDL LLELLELQER
460 470 480 490 500
LRHLQVWSPE AQRNISLQDI CYAPLNPDNT SLYDCCINSL LQYFQNNRTL
510 520 530 540 550
LLLTANQTLM GQTSQVDWKD HFLYCANAPL TFKDGTALAL SCMADYGAPV
560 570 580 590 600
FPFLAIGGYK GKDYSEAEAL IMTFSLNNYP AGDPRLAQAK LWEEAFLEEM
610 620 630 640 650
RAFQRRMAGM FQVTFMAERS LEDEINRTTA EDLPIFATSY IVIFLYISLA
660 670 680 690 700
LGSYSSWSRV MVDSKATLGL GGVAVVLGAV MAAMGFFSYL GIRSSLVILQ
710 720 730 740 750
VVPFLVLSVG ADNIFIFVLE YQRLPRRPGE PREVHIGRAL GRVAPSMLLC
760 770 780 790 800
SLSEAICFFL GALTPMPAVR TFALTSGLAV ILDFLLQMSA FVALLSLDSK
810 820 830 840 850
RQEASRLDVC CCVKPQELPP PGQGEGLLLG FFQKAYAPFL LHWITRGVVL
860 870 880 890 900
LLFLALFGVS LYSMCHISVG LDQELALPKD SYLLDYFLFL NRYFEVGAPV
910 920 930 940 950
YFVTTLGYNF SSEAGMNAIC SSAGCNNFSF TQKIQYATEF PEQSYLAIPA
960 970 980 990 1000
SSWVDDFIDW LTPSSCCRLY ISGPNKDKFC PSTVNSLNCL KNCMSITMGS
1010 1020 1030 1040 1050
VRPSVEQFHK YLPWFLNDRP NIKCPKGGLA AYSTSVNLTS DGQVLDTVAI
1060 1070 1080 1090 1100
LSPRLEYSGT ISAHCNLYLL DSTSRFMAYH KPLKNSQDYT EALRAARELA
1110 1120 1130 1140 1150
ANITADLRKV PGTDPAFEVF PYTITNVFYE QYLTILPEGL FMLSLCLVPT
1160 1170 1180 1190 1200
FAVSCLLLGL DLRSGLLNLL SIVMILVDTV GFMALWGISY NAVSLINLVS
1210 1220 1230 1240 1250
AVGMSVEFVS HITRSFAIST KPTWLERAKE ATISMGSAVF AGVAMTNLPG
1260 1270 1280 1290 1300
ILVLGLAKAQ LIQIFFFRLN LLITLLGLLH GLVFLPVILS YVGPDVNPAL
1310 1320 1330 1340 1350
ALEQKRAEEA VAAVMVASCP NHPSRVSTAD NIYVNHSFEG SIKGAGAISN

FLPNNGRQF
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:
EMBLi
GenBanki
DDBJi
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]
CCDS75587.1. [Q9UHC9-3]
RefSeqiNP_001095118.1. NM_001101648.1.
NP_001287896.1. NM_001300967.1. [Q9UHC9-3]
NP_037521.2. NM_013389.2. [Q9UHC9-1]
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]
uc011kbw.2. human.

Polymorphism databases

DMDMi425906049.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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 ]
CCDS75587.1. [Q9UHC9-3 ]
RefSeqi NP_001095118.1. NM_001101648.1.
NP_001287896.1. NM_001300967.1. [Q9UHC9-3 ]
NP_037521.2. NM_013389.2. [Q9UHC9-1 ]
UniGenei Hs.567486.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
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

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 ]
uc011kbw.2. human.

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.
GeneTreei ENSGT00760000119174.
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

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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 114 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