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Protein

NPC1-like intracellular cholesterol transporter 1

Gene

NPC1L1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Miscellaneous

Target of cholesterol lowering drugs.1 Publication

GO - Molecular functioni

  • drug binding Source: Ensembl
  • myosin V binding Source: UniProtKB
  • Rab GTPase binding Source: UniProtKB

GO - Biological processi

  • cellular response to sterol depletion Source: UniProtKB
  • cholesterol biosynthetic process Source: HGNC
  • cholesterol transport Source: HGNC
  • intestinal cholesterol absorption Source: HGNC
  • intestinal lipid absorption Source: Reactome
  • lipoprotein metabolic process Source: HGNC
  • response to drug Source: Ensembl

Keywordsi

Biological processCholesterol metabolism, Lipid metabolism, Steroid metabolism, Sterol metabolism

Enzyme and pathway databases

ReactomeiR-HSA-8963678 Intestinal lipid absorption
SIGNORiQ9UHC9

Protein family/group databases

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

Chemistry databases

SwissLipidsiSLP:000001532

Names & Taxonomyi

Protein namesi
Recommended name:
NPC1-like intracellular cholesterol transporter 1Imported
Alternative name(s):
Niemann-Pick C1-like protein 11 Publication
Gene namesi
Name:NPC1L1Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000015520.14
HGNCiHGNC:7898 NPC1L1
MIMi608010 gene
neXtProtiNX_Q9UHC9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini22 – 284ExtracellularCuratedAdd BLAST263
Transmembranei285 – 305Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini306 – 351CytoplasmicCuratedAdd BLAST46
Transmembranei352 – 372Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini373 – 632ExtracellularCuratedAdd BLAST260
Transmembranei633 – 653Helical; Name=3Sequence analysisAdd BLAST21
Topological domaini654 – 666CytoplasmicCuratedAdd BLAST13
Transmembranei667 – 687Helical; Name=4Sequence analysisAdd BLAST21
Topological domaini688 – 696ExtracellularCurated9
Transmembranei697 – 717Helical; Name=5Sequence analysisAdd BLAST21
Topological domaini718 – 742CytoplasmicCuratedAdd BLAST25
Transmembranei743 – 763Helical; Name=6Sequence analysisAdd BLAST21
Topological domaini764 – 776ExtracellularCuratedAdd BLAST13
Transmembranei777 – 797Helical; Name=7Sequence analysisAdd BLAST21
Topological domaini798 – 846CytoplasmicCuratedAdd BLAST49
Transmembranei847 – 867Helical; Name=8Sequence analysisAdd BLAST21
Topological domaini868 – 1139ExtracellularCuratedAdd BLAST272
Transmembranei1140 – 1160Helical; Name=9Sequence analysisAdd BLAST21
Topological domaini1161 – 1168CytoplasmicCurated8
Transmembranei1169 – 1189Helical; Name=10Sequence analysisAdd BLAST21
Topological domaini1190 – 1191ExtracellularCurated2
Transmembranei1192 – 1212Helical; Name=11Sequence analysisAdd BLAST21
Topological domaini1213 – 1236CytoplasmicCuratedAdd BLAST24
Transmembranei1237 – 1257Helical; Name=12Sequence analysisAdd BLAST21
Topological domaini1258 – 1268ExtracellularCuratedAdd BLAST11
Transmembranei1269 – 1289Helical; Name=13Sequence analysisAdd BLAST21
Topological domaini1290 – 1359CytoplasmicCuratedAdd BLAST70

Keywords - Cellular componenti

Cell membrane, Cytoplasmic vesicle, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi1300 – 1303LALE → AAAA: Does not affect interaction with LIMA1. 1 Publication4
Mutagenesisi1304 – 1306QKR → AAA: Abolishes interaction with LIMA1. 1 Publication3
Mutagenesisi1308 – 1309EE → AA: Does not affect interaction with LIMA1. 1 Publication2

Organism-specific databases

DisGeNETi29881
MIMi617966 phenotype
OpenTargetsiENSG00000015520
PharmGKBiPA31699

Chemistry databases

ChEMBLiCHEMBL2027
DrugBankiDB00973 Ezetimibe
GuidetoPHARMACOLOGYi2629

Polymorphism and mutation databases

BioMutaiNPC1L1
DMDMi425906049

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 21Sequence analysisAdd BLAST21
ChainiPRO_000002326622 – 1359NPC1-like intracellular cholesterol transporter 1Add BLAST1338

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi33 ↔ 901 Publication
Disulfide bondi39 ↔ 571 Publication
Glycosylationi54N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi78 ↔ 1251 Publication
Disulfide bondi91 ↔ 1291 Publication
Disulfide bondi113 ↔ 2541 Publication
Disulfide bondi116 ↔ 1721 Publication
Glycosylationi132N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi138N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi189 ↔ 1971 Publication
Disulfide bondi243 ↔ 2591 Publication
Glycosylationi244N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi256 ↔ 2631 Publication
Glycosylationi416N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi431N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi464N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi471 ↔ 485By similarity
Glycosylationi479N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi497N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi506N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi525 ↔ 542By similarity
Glycosylationi626N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi920 ↔ 925By similarity
Disulfide bondi966 ↔ 1024By similarity
Disulfide bondi980 ↔ 989By similarity

Post-translational modificationi

Highly glycosylated.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ9UHC9
PeptideAtlasiQ9UHC9
PRIDEiQ9UHC9
ProteomicsDBi84317
84318 [Q9UHC9-2]
84319 [Q9UHC9-3]

PTM databases

GlyConnecti1570
iPTMnetiQ9UHC9
PhosphoSitePlusiQ9UHC9

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

BgeeiENSG00000015520 Expressed in 76 organ(s), highest expression level in duodenum
CleanExiHS_NPC1L1
ExpressionAtlasiQ9UHC9 baseline and differential
GenevisibleiQ9UHC9 HS

Organism-specific databases

HPAiCAB070127
CAB070128

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. Interacts with LIMA1 (PubMed:29880681).3 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi118936, 1 interactor
IntActiQ9UHC9, 1 interactor
STRINGi9606.ENSP00000289547

Chemistry databases

BindingDBiQ9UHC9

Structurei

Secondary structure

11359
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ9UHC9
SMRiQ9UHC9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini632 – 797SSDPROSITE-ProRule annotationAdd BLAST166

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi500 – 503Poly-Leu4

Sequence similaritiesi

Belongs to the patched family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1933 Eukaryota
ENOG410XR54 LUCA
GeneTreeiENSGT00900000140845
HOGENOMiHOG000036674
HOVERGENiHBG003913
InParanoidiQ9UHC9
KOiK14461
OMAiKDEFCPS
OrthoDBiEOG091G00JD
PhylomeDBiQ9UHC9
TreeFamiTF300416

Family and domain databases

InterProiView protein in InterPro
IPR032190 NPC1_N
IPR003392 Ptc/Disp
IPR000731 SSD
PfamiView protein in Pfam
PF16414 NPC1_N, 1 hit
PF02460 Patched, 1 hit
PF12349 Sterol-sensing, 1 hit
PROSITEiView protein in PROSITE
PS50156 SSD, 1 hit

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. AlignAdd to basket

This entry has 4 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0C4DFX6A0A0C4DFX6_HUMAN
NPC1-like intracellular cholesterol...
NPC1L1
1,332Annotation score:
A0A0C4DGG6A0A0C4DGG6_HUMAN
NPC1-like intracellular cholesterol...
NPC1L1
1,286Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1073T → A in AAF20396 (PubMed:10783261).Curated1
Sequence conflicti1073T → A in AAI43757 (PubMed:15489334).Curated1

Polymorphismi

Genetic variations in NPC1L1 influence low density lipoprotein cholesterol (LDL-C) content defining the low density lipoprotein cholesterol level quantitative trait locus 7 (LDLCQ7) [MIMi:617966]. Inactivating variants may confer a lower risk of coronary heart disease (PubMed:25390462). Rare NPC1L1 variants also influence response to ezetimibe, a drug that reduces plasma LDL-C by blocking sterol absorption in enterocytes (PubMed:15679830).2 Publications

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02336955V → L Found in a non-responder to ezetimibe treatment. 1 PublicationCorresponds to variant dbSNP:rs119457968EnsemblClinVar.1
Natural variantiVAR_080844167 – 1359Missing 1 PublicationAdd BLAST1193
Natural variantiVAR_080845406 – 1359Missing Polymorphism associated with low LDL-C content and protection against coronary heart disease. 1 PublicationAdd BLAST954
Natural variantiVAR_080846483 – 1359Missing 1 PublicationAdd BLAST877
Natural variantiVAR_056659510M → I. Corresponds to variant dbSNP:rs1468384Ensembl.1
Natural variantiVAR_080847592 – 1359Missing 1 PublicationAdd BLAST768
Natural variantiVAR_080848601 – 1359Missing 1 PublicationAdd BLAST759
Natural variantiVAR_080849604 – 1359Missing 1 PublicationAdd BLAST756
Natural variantiVAR_080850738 – 1359Missing 1 PublicationAdd BLAST622
Natural variantiVAR_080851803 – 1359Missing 1 PublicationAdd BLAST557
Natural variantiVAR_080852967 – 1359Missing 1 PublicationAdd BLAST393
Natural variantiVAR_0233701233I → N Found in a non-responder to ezetimibe treatment. 1 PublicationCorresponds to variant dbSNP:rs52815063EnsemblClinVar.1
Natural variantiVAR_0566601308E → K. Corresponds to variant dbSNP:rs217435Ensembl.1
Natural variantiVAR_0808531325 – 1359Missing 1 PublicationAdd BLAST35

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_015312723 – 724RL → GP in isoform 3. 1 Publication2
Alternative sequenceiVSP_015313725 – 1359Missing in isoform 3. 1 PublicationAdd BLAST635
Alternative sequenceiVSP_054503850 – 895Missing in isoform 4. 1 PublicationAdd BLAST46
Alternative sequenceiVSP_0153141046 – 1072Missing in isoform 2 and isoform 4. 4 PublicationsAdd BLAST27

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]
ENST00000423141; ENSP00000404670; ENSG00000015520 [Q9UHC9-3]
GeneIDi29881
KEGGihsa:29881
UCSCiuc003tlb.4 human [Q9UHC9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

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
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

3D structure databases

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

Protein-protein interaction databases

BioGridi118936, 1 interactor
IntActiQ9UHC9, 1 interactor
STRINGi9606.ENSP00000289547

Chemistry databases

BindingDBiQ9UHC9
ChEMBLiCHEMBL2027
DrugBankiDB00973 Ezetimibe
GuidetoPHARMACOLOGYi2629
SwissLipidsiSLP:000001532

Protein family/group databases

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

PTM databases

GlyConnecti1570
iPTMnetiQ9UHC9
PhosphoSitePlusiQ9UHC9

Polymorphism and mutation databases

BioMutaiNPC1L1
DMDMi425906049

Proteomic databases

PaxDbiQ9UHC9
PeptideAtlasiQ9UHC9
PRIDEiQ9UHC9
ProteomicsDBi84317
84318 [Q9UHC9-2]
84319 [Q9UHC9-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000289547; ENSP00000289547; ENSG00000015520 [Q9UHC9-1]
ENST00000423141; ENSP00000404670; ENSG00000015520 [Q9UHC9-3]
GeneIDi29881
KEGGihsa:29881
UCSCiuc003tlb.4 human [Q9UHC9-1]

Organism-specific databases

CTDi29881
DisGeNETi29881
EuPathDBiHostDB:ENSG00000015520.14
GeneCardsiNPC1L1
H-InvDBiHIX0201184
HGNCiHGNC:7898 NPC1L1
HPAiCAB070127
CAB070128
MIMi608010 gene
617966 phenotype
neXtProtiNX_Q9UHC9
OpenTargetsiENSG00000015520
PharmGKBiPA31699
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1933 Eukaryota
ENOG410XR54 LUCA
GeneTreeiENSGT00900000140845
HOGENOMiHOG000036674
HOVERGENiHBG003913
InParanoidiQ9UHC9
KOiK14461
OMAiKDEFCPS
OrthoDBiEOG091G00JD
PhylomeDBiQ9UHC9
TreeFamiTF300416

Enzyme and pathway databases

ReactomeiR-HSA-8963678 Intestinal lipid absorption
SIGNORiQ9UHC9

Miscellaneous databases

GenomeRNAii29881
PROiPR:Q9UHC9
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000015520 Expressed in 76 organ(s), highest expression level in duodenum
CleanExiHS_NPC1L1
ExpressionAtlasiQ9UHC9 baseline and differential
GenevisibleiQ9UHC9 HS

Family and domain databases

InterProiView protein in InterPro
IPR032190 NPC1_N
IPR003392 Ptc/Disp
IPR000731 SSD
PfamiView protein in Pfam
PF16414 NPC1_N, 1 hit
PF02460 Patched, 1 hit
PF12349 Sterol-sensing, 1 hit
PROSITEiView protein in PROSITE
PS50156 SSD, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiNPCL1_HUMAN
AccessioniPrimary (citable) accession number: Q9UHC9
Secondary accession number(s): A4D2J7
, B7ZLE6, D3DVK9, Q17RV5, Q6R3Q4, Q9UHC8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: November 28, 2012
Last modified: October 10, 2018
This is version 146 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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