Protein detail

NPCL1

NPC1-like intracellular cholesterol transporter 1 (NPC1L1) (Niemann-Pick C1-like protein 1)

Entry name NPCL1	UniProt ID Q9UHC9	EVMP confidence score 0.38
Supporting publications (n)	Transmembrane count 13	Protein classification FDA approved drug targetsMetabolic proteinsPredicted membrane proteinsTransporters

EVMP confidence score

Annotation confidence score; open for threshold definitions.

Extremely high >= 0.85High >= 0.70Medium >= 0.55Low >= 0.40

Basic Information12

Protein Names

NPC1-like intracellular cholesterol transporter 1 (NPC1L1) (Niemann-Pick C1-like protein 1)

Protein Class (4)

FDA approved drug targetsMetabolic proteinsPredicted membrane proteinsTransporters

Protein Function (2)

Transporters:Electrochemical Potential-driven transporters
FDA approved drug targets:Small molecule drugs

Transmembrane

285..305; Helical; Name=1; 352..372; Helical; Name=2; 633..653; Helical; Name=3; 667..687; Helical; Name=4; 697..717; Helical; Name=5; 743..763; Helical; Name=6; 777..797; Helical; Name=7; 847..867; Helical; Name=8; 1140..1160; Helical; Name=9; 1169..1189; Helical; Name=10; 1192..1212; Helical; Name=11; 1237..1257; Helical; Name=12; 1269..1289; Helical; Name=13

Transmembrane Count

Ensembl

ENSG00000015520

Entrez Gene Symbol

NPC1L1

Gene Synonym

SLC65A2

Gene Description

NPC1 like intracellular cholesterol transporter 1

Chromosome

Position

44512535-44541330

EVMP confidence score

0.38

Function & Pathway7

Protein Function (2)

Transporters:Electrochemical Potential-driven transporters
FDA approved drug targets:Small molecule drugs

Cellular Component (3)

Molecular Function (6)

Biological Process (3)

KEGG

hsa04975 Fat digestion and absorption

Reactome (2)

Mediation Categories (2)

Clinical-translation mediationFusion and delivery mediation

Relations & Evidence24

Ligand-Receptor Signaling (21)

21 records.

Category	Parent	Database	Transmitter	Receiver	Secreted	Plasma Membrane (Transmembrane)	Plasma Membrane (Peripheral)
transmembrane	transmembrane	LOCATE	No	No	No	No	No
transmembrane	transmembrane	Ramilowski_location	No	No	No	No	No
transmembrane	transmembrane	OmniPath	No	No	No	No	No
plasma_membrane	plasma_membrane	UniProt_location	No	No	No	No	No
apical_cell_membrane	plasma_membrane	UniProt_location	No	No	No	No	No
apical_cell_membrane	plasma_membrane	Ramilowski_location	No	No	No	No	No
plasma_membrane	plasma_membrane	Ramilowski_location	No	No	No	No	No
plasma_membrane	plasma_membrane	OmniPath	No	No	No	No	No
cell_surface	cell_surface	Surfaceome	No	No	No	No	No
cell_surface	cell_surface	OmniPath	No	No	No	No	No

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Protein Complex Composition (2)

2 records.

Component Name	Component Gene Symbols	Component UniProt ID	Stoichiometry	Database	Database IDs	References
	ARCN1 ARF4 COPA COPB1 COPB2 COPG1 LMAN2 NPC1L1 SEC23A SURF4 TMED10 TMED2 TMED7 TMED9 UBC	O15260 P0CG48 P18085 P35606 P48444 P49755 P53618 P53621 Q12907 Q15363 Q15436 Q9BVK6 Q9UHC9 Q9Y3B3 Q9Y678	1:1:1:1:1:1:1:1:1:1:1:1:1:1:1	NetworkBlastCompleat	Compleat:HC9054
	NPC1L1	Q9UHC9	2	PDB	PDB:7n4uPDB:7n4v

Isolation & Detection Technology (1)

1 record.

EV Isolation Method	Detection Method	Number of References	References
Differential UltracentrifugationSize Exclusion Chromatography	Mass spectrometry	1	35655072

Sequence, Structure & Domains12

Sequences

Length

1,359

Mass

148,728

Sequence

MAEAGLRGWLLWALLLRLAQSEPYTTIHQPGYCAFYDECGKNPELSGSLMTLSNVSCLSNTPARKITGDHLILLQKICPRLYTGPNTQACCSAKQLVSLEASLSITKALLTRCPACSDNFVNLHCHNTCSPNQSLFINVTRVAQLGAGQLPAVVAYEAFYQHSFAEQSYDSCSRVRVPAAATLAVGTMCGVYGSALCNAQRWLNFQGDTGNGLAPLDITFHLLEPGQAVGSGIQPLNEGVARCNESQGDDVATCSCQDCAASCPAIARPQALDSTFYLGQMPGSLVLIIILCSVFAVVTILLVGFRVAPARDKSKMVDPKKGTSLSDKLSFSTHTLLGQFFQGWGTWVASWPLTILVLSVIPVVALAAGLVFTELTTDPVELWSAPNSQARSEKAFHDQHFGPFFRTNQVILTAPNRSSYRYDSLLLGPKNFSGILDLDLLLELLELQERLRHLQVWSPEAQRNISLQDICYAPLNPDNTSLYDCCINSLLQYFQNNRTLLLLTANQTLMGQTSQVDWKDHFLYCANAPLTFKDGTALALSCMADYGAPVFPFLAIGGYKGKDYSEAEALIMTFSLNNYPAGDPRLAQAKLWEEAFLEEMRAFQRRMAGMFQVTFMAERSLEDEINRTTAEDLPIFATSYIVIFLYISLALGSYSSWSRVMVDSKATLGLGGVAVVLGAVMAAMGFFSYLGIRSSLVILQVVPFLVLSVGADNIFIFVLEYQRLPRRPGEPREVHIGRALGRVAPSMLLCSLSEAICFFLGALTPMPAVRTFALTSGLAVILDFLLQMSAFVALLSLDSKRQEASRLDVCCCVKPQELPPPGQGEGLLLGFFQKAYAPFLLHWITRGVVLLLFLALFGVSLYSMCHISVGLDQELALPKDSYLLDYFLFLNRYFEVGAPVYFVTTLGYNFSSEAGMNAICSSAGCNNFSFTQKIQYATEFPEQSYLAIPASSWVDDFIDWLTPSSCCRLYISGPNKDKFCPSTVNSLNCLKNCMSITMGSVRPSVEQFHKYLPWFLNDRPNIKCPKGGLAAYSTSVNLTSDGQVLDTVAILSPRLEYSGTISAHCNLYLLDSTSRFMAYHKPLKNSQDYTEALRAARELAANITADLRKVPGTDPAFEVFPYTITNVFYEQYLTILPEGLFMLSLCLVPTFAVSCLLLGLDLRSGLLNLLSIVMILVDTVGFMALWGISYNAVSLINLVSAVGMSVEFVSHITRSFAISTKPTWLERAKEATISMGSAVFAGVAMTNLPGILVLGLAKAQLIQIFFFRLNLLITLLGLLHGLVFLPVILSYVGPDVNPALALEQKRAEEAVAAVMVASCPNHPSRVSTADNIYVNHSFEGSIKGAGAISNFLPNNGRQF

Alternative Products

Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9UHC9-1; Sequence=Displayed; Name=2; Synonyms=NPC1L1DELTAE15; IsoId=Q9UHC9-2; Sequence=VSP_015314; Name=3; Synonyms=NPCL1T; IsoId=Q9UHC9-3; Sequence=VSP_015312, VSP_015313; Name=4; IsoId=Q9UHC9-4; Sequence=VSP_054503, VSP_015314

Alternative Sequence

723..724; RL -> GP (in isoform 3); 725..1359; Missing (in isoform 3); 850..895; Missing (in isoform 4); 1046..1072; Missing (in isoform 2 and isoform 4)

3D Structural Models

Turn

110..112; 209..212; 248..250; 256..258; 459..461; 608..610; 630..632; 647..649; 660..663; 802..805; 941..943; 1029..1031

Helix

68..77; 79..81; 93..109; 114..129; 133..135; 162..172; 186..188; 199..206; 225..228; 260..262; 335..350; 352..367; 380..382; 389..401; 438..452; 467..470; 482..484; 490..494; 498..501; 518..527; 552..554; 564..566; 585..606; 620..625; 633..636; 638..646; 657..659; 666..689; 696..723; 732..761; 767..798; 828..832; 833..840; 843..863; 864..866; 873..876; 883..893; 913..917; 930..938; 953..960; 1005..1017; 1086..1107; 1126..1129; 1131..1133; 1135..1156; 1162..1185; 1192..1204; 1206..1217; 1224..1252; 1253..1256; 1260..1265; 1268..1282; 1285..1291; 1298..1300; 1301..1312

Beta Strand

34..40; 47..49; 55..58; 84..86; 88..90; 137..143; 146..149; 152..161; 194..196; 215..223; 370..373; 406..411; 420..423; 425..427; 429..432; 434..437; 455..458; 463..466; 474..476; 477..479; 487..489; 505..511; 513..516; 535..538; 545..548; 556..558; 560..562; 569..576; 614..616; 808..810; 877..880; 899..904; 921..924; 946..951; 961..978; 986..994; 998..1000; 1032..1038; 1040..1042; 1073..1080; 1119..1122

3D Structure

Electron microscopy (6); X-ray crystallography (1)

Domain & Motif Annotations

Domain (FT)

632..797; SSD

Protein Families

Patched family

Sequence Similarities

Belongs to the patched family.

Clinical Relevance6

Disease Involvement

FDA approved drug targets

Related Diseases

Hyper-lipoproteinaemia

Biomarker

Approved

Drug Targets

FDA approved drug targets

Drugs (3)

PRAVASTATIN SODIUM EZETIMIBE NULL

Antibody (2)

CAB070127 CAB070128