O15118 (NPC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Niemann-Pick C1 protein

Gene names

Name:

NPC1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1278 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Intracellular cholesterol transporter which acts in concert with NPC2 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment. Both NPC1 and NPC2 function as the cellular 'tag team duo' (TTD) to catalyze the mobilization of cholesterol within the multivesicular environment of the late endosome (LE) to effect egress through the limiting bilayer of the LE. NPC2 binds unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes and transfers it to the cholesterol-binding pocket of the N-terminal domain of NPC1. Cholesterol binds to NPC1 with the hydroxyl group buried in the binding pocket and is exported from the limiting membrane of late endosomes/ lysosomes to the ER and plasma membrane by an unknown mechanism. Binds oxysterol with higher affinity than cholesterol. May play a role in vesicular trafficking in glia, a process that may be crucial for maintaining the structural and functional integrity of nerve terminals. Ref.8
Subunit structure	Interacts with TMEM97. Interacts (via the second lumenal domain) with NPC2 in a cholestrol-dependent manner By similarity. Ref.9
Subcellular location	Late endosome membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein Ref.7.
Domain	A cysteine-rich N-terminal domain and a C-terminal domain containing a di-leucine motif necessary for lysosomal targeting are critical for mobilization of cholesterol from lysosomes.
Post-translational modification	Glycosylated. Ref.6
Involvement in disease	Niemann-Pick disease C1 (NPC1) [MIM:257220]: A lysosomal storage disorder that affects the viscera and the central nervous system. It is due to defective intracellular processing and transport of low-density lipoprotein derived cholesterol. It causes accumulation of cholesterol in lysosomes, with delayed induction of cholesterol homeostatic reactions. Niemann-Pick disease type C1 has a highly variable clinical phenotype. Clinical features include variable hepatosplenomegaly and severe progressive neurological dysfunction such as ataxia, dystonia and dementia. The age of onset can vary from infancy to late adulthood. An allelic variant of Niemann-Pick disease type C1 is found in people with Nova Scotia ancestry. Patients with the Nova Scotian clinical variant are less severely affected. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.3 Ref.15 Ref.16 Ref.17 Ref.18 Ref.19 Ref.20 Ref.21 Ref.22 Ref.23 Ref.24 Ref.25 Ref.26 Ref.27 Ref.28 Ref.29 Ref.30 Ref.31
Sequence similarities	Belongs to the patched family. Contains 1 SSD (sterol-sensing) domain.

Ontologies

Keywords
Biological process	Cholesterol metabolism Lipid metabolism Steroid metabolism Sterol metabolism
Cellular component	Endosome Lysosome Membrane
Coding sequence diversity	Polymorphism
Disease	Disease mutation Niemann-Pick disease
Domain	Signal Transmembrane Transmembrane helix
PTM	Glycoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	adult walking behavior Inferred from electronic annotation. Source: Compara autophagy Inferred from genetic interaction PubMed 19074461. Source: MGI bile acid metabolic process Inferred from sequence or structural similarity. Source: UniProtKB cellular response to low-density lipoprotein particle stimulus Inferred from electronic annotation. Source: Compara cellular response to steroid hormone stimulus Inferred from electronic annotation. Source: Compara cholesterol efflux Inferred from direct assay PubMed 16141411. Source: BHF-UCL cholesterol homeostasis Inferred from direct assay PubMed 12719428. Source: UniProtKB cholesterol metabolic process Inferred from electronic annotation. Source: UniProtKB-KW endocytosis Inferred from electronic annotation. Source: Compara lysosomal transport Inferred from sequence or structural similarity. Source: UniProtKB negative regulation of macroautophagy Inferred from electronic annotation. Source: Compara protein glycosylation Inferred from direct assay Ref.6. Source: UniProtKB response to drug Inferred from electronic annotation. Source: Compara
Cellular_component	Golgi apparatus Inferred from electronic annotation. Source: Compara endoplasmic reticulum Inferred from direct assay Ref.26. Source: UniProtKB extracellular region Inferred from sequence or structural similarity. Source: UniProtKB integral to plasma membrane Inferred from direct assay Ref.6. Source: UniProtKB late endosome membrane Inferred from electronic annotation. Source: UniProtKB-SubCell lysosomal membrane Inferred from electronic annotation. Source: UniProtKB-SubCell lysosome Inferred from sequence or structural similarity. Source: UniProtKB membrane raft Inferred from electronic annotation. Source: Compara nuclear envelope Inferred from direct assay Ref.26. Source: UniProtKB perinuclear region of cytoplasm Inferred from direct assay Ref.26. Source: UniProtKB vesicle Inferred from electronic annotation. Source: Compara
Molecular_function	cholesterol binding Inferred from direct assay Ref.8. Source: UniProtKB hedgehog receptor activity Inferred from electronic annotation. Source: InterPro sterol transporter activity Traceable author statement Ref.5. Source: ProtInc transmembrane signaling receptor activity Traceable author statement Ref.16. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Signal peptide

1 – 22

22

Potential

Chain

23 – 1278

1256

Niemann-Pick C1 protein

PRO_0000023261

Regions

Topological domain

23 – 269

247

Lumenal Potential

Transmembrane

270 – 290

21

Helical; Potential

Topological domain

291 – 350

60

Cytoplasmic Potential

Transmembrane

351 – 371

21

Helical; Potential

Topological domain

372 – 621

250

Lumenal Potential

Transmembrane

622 – 642

21

Helical; Potential

Topological domain

643 – 654

12

Cytoplasmic Potential

Transmembrane

655 – 675

21

Helical; Potential

Topological domain

676 – 677

2

Lumenal Potential

Transmembrane

678 – 698

21

Helical; Potential

Topological domain

699 – 759

61

Cytoplasmic Potential

Transmembrane

760 – 780

21

Helical; Potential

Topological domain

781 – 832

52

Lumenal Potential

Transmembrane

833 – 853

21

Helical; Potential

Topological domain

854 – 1098

245

Cytoplasmic Potential

Transmembrane

1099 – 1119

21

Helical; Potential

Topological domain

1120 – 1124

5

Lumenal Potential

Transmembrane

1125 – 1145

21

Helical; Potential

Topological domain

1146 – 1195

50

Cytoplasmic Potential

Transmembrane

1196 – 1216

21

Helical; Potential

Topological domain

1217 – 1227

11

Lumenal Potential

Transmembrane

1228 – 1248

21

Helical; Potential

Topological domain

1249 – 1278

30

Cytoplasmic Potential

Domain

620 – 785

166

SSD

Motif

1275 – 1278

4

Di-leucine motif

Compositional bias

249 – 259

11

Poly-Pro

Amino acid modifications

Glycosylation

70

1

N-linked (GlcNAc...) Potential

Glycosylation

122

1

N-linked (GlcNAc...) Potential

Glycosylation

135

1

N-linked (GlcNAc...) Ref.10

Glycosylation

185

1

N-linked (GlcNAc...) Potential

Glycosylation

222

1

N-linked (GlcNAc...) Potential

Glycosylation

452

1

N-linked (GlcNAc...) Potential

Glycosylation

459

1

N-linked (GlcNAc...) Potential

Glycosylation

478

1

N-linked (GlcNAc...) Potential

Glycosylation

524

1

N-linked (GlcNAc...) Ref.10

Natural variations

Natural variant

63

1

C → R in NPC1. Ref.22

VAR_043172

Natural variant

74

1

C → Y in NPC1. Ref.27

VAR_043173

Natural variant

92

1

Q → R in NPC1. Ref.20 Ref.23

VAR_043174

Natural variant

113

1

C → R in NPC1; partially mislocalized from late endocytic organelles diffusely to the cell periphery; localizes to the endoplasmic reticulum Rab7-negative endosomes and the cell surface; does not clears the lysosomal cholesterol accumulation in NPC1-deficient cells. Ref.26

VAR_043175

Natural variant

137

1

T → M in NPC1. Ref.20 Ref.28

VAR_043176

Natural variant

151

1

S → G. Ref.4
Corresponds to variant rs17855819 [ dbSNP | Ensembl ].

VAR_043177

Natural variant

166

1

P → S in NPC1. Ref.27 Ref.30

VAR_043178

Natural variant

177

1

C → G in NPC1; late infantile form. Ref.19

VAR_008815

Natural variant

177

1

C → Y in NPC1. Ref.23 Ref.28 Ref.30

VAR_015561

Natural variant

215

1

H → R Common polymorphism in Japanese. Ref.3 Ref.18 Ref.23 Ref.25 Ref.27 Ref.28 Ref.29
Corresponds to variant rs1805081 [ dbSNP | Ensembl ].

VAR_008816

Natural variant

222

1

N → S in NPC1. Ref.27
Corresponds to variant rs55680026 [ dbSNP | Ensembl ].

VAR_043179

Natural variant

231

1

V → G in NPC1. Ref.24

VAR_043180

Natural variant

237

1

P → S in NPC1; late infantile form. Ref.19 Ref.20 Ref.21 Ref.24 Ref.27

VAR_008817

Natural variant

242

1

D → H in NPC1. Ref.21

VAR_043181

Natural variant

242

1

D → N in NPC1. Ref.20

VAR_043182

Natural variant

247

1

C → Y in NPC1. Ref.27

VAR_043183

Natural variant

248

1

G → V in NPC1. Ref.20

VAR_043184

Natural variant

272

1

M → R in NPC1. Ref.21

VAR_043185

Natural variant

273

1

W → S Colocalizes with the wild-type protein with Rab7-positive late endosomes; clears the lysosomal cholesterol accumulation in NPC1-deficient cells. Ref.26

VAR_043186

Natural variant

333

1

G → D.

VAR_008818

Natural variant

372

1

R → W in NPC1. Ref.28

VAR_043187

Natural variant

378

1

V → A in NPC1. Ref.21

VAR_015562

Natural variant

380

1

L → F in NPC1. Ref.27

VAR_043188

Natural variant

381

1

W → C. Ref.24

VAR_043189

Natural variant

388

1

A → P in NPC1. Ref.27

VAR_043190

Natural variant

389

1

R → C in NPC1. Ref.27

VAR_043191

Natural variant

401

1

P → T in NPC1. Ref.20

VAR_043192

Natural variant

404

1

R → P in NPC1. Ref.30

VAR_043193

Natural variant

404

1

R → Q in NPC1. Ref.20 Ref.21 Ref.22

VAR_043194

Natural variant

404

1

R → W in NPC1. Ref.27

VAR_043195

Natural variant

433

1

P → L in NPC1. Ref.27

VAR_043196

Natural variant

434

1

P → L in NPC1. Ref.28

VAR_043197

Natural variant

434

1

P → S. Ref.27

VAR_043198

Natural variant

451

1

E → K in NPC1. Ref.25

VAR_043199

Natural variant

472

1

L → P.

VAR_008819

Natural variant

473

1

S → P in NPC1; late infantile form. Ref.19

VAR_008820

Natural variant

474

1

P → L in NPC1. Ref.25 Ref.28

VAR_043200

Natural variant

479

1

C → Y in NPC1. Ref.28

VAR_043201

Natural variant

509

1

Y → S in NPC1. Ref.27

VAR_043202

Natural variant

510

1

H → P in NPC1; late infantile form. Ref.19

VAR_008821

Natural variant

511

1

T → M. Ref.30
Corresponds to variant rs13381670 [ dbSNP | Ensembl ].

VAR_043203

Natural variant

512

1

H → R in NPC1. Ref.3

VAR_043204

Natural variant

518

1

R → Q in NPC1; late infantile form; Common in Japanese. Ref.19 Ref.21

VAR_008822

Natural variant

518

1

R → W in NPC1. Ref.23

VAR_043205

Natural variant

521

1

A → S in NPC1. Ref.27

VAR_043206

Natural variant

537

1

F → L in NPC1. Ref.30

VAR_043207

Natural variant

543

1

P → L in NPC1. Ref.27 Ref.30

VAR_043208

Natural variant

574

1

T → K in NPC1.

VAR_043209

Natural variant

576

1

K → R in NPC1. Ref.28

VAR_043210

Natural variant

605

1

A → V in NPC1. Ref.21

VAR_043211

Natural variant

612

1

E → D in NPC1. Ref.20

VAR_043212

Natural variant

615

1

R → C in NPC1. Ref.27

VAR_043213

Natural variant

615

1

R → L in NPC1. Ref.30

VAR_043214

Natural variant

631

1

M → R in NPC1. Ref.21 Ref.30

VAR_043215

Natural variant

640

1

G → R in NPC1. Ref.27

VAR_043216

Natural variant

642

1

M → I. Ref.1 Ref.3 Ref.4 Ref.23 Ref.24 Ref.25 Ref.28 Ref.29
Corresponds to variant rs1788799 [ dbSNP | Ensembl ].

VAR_008823

Natural variant

652

1

S → W in NPC1. Ref.20

VAR_043217

Natural variant

660

1

G → S in NPC1. Ref.27

VAR_043218

Natural variant

664

1

V → M in NPC1. Ref.27 Ref.28

VAR_043219

Natural variant

666

1

S → N in NPC1. Ref.31

VAR_043220

Natural variant

670

1

C → W in NPC1. Ref.3

VAR_043221

Natural variant

673

1

G → V in NPC1. Ref.27

VAR_043222

Natural variant

684

1

L → F in NPC1. Ref.27

VAR_043223

Natural variant

691

1

P → L in NPC1. Ref.27

VAR_043224

Natural variant

695

1

L → V in NPC1. Ref.27

VAR_043225

Natural variant

700

1

D → N in NPC1. Ref.27

VAR_043226

Natural variant

703

1

F → S in NPC1. Ref.19

VAR_043227

Natural variant

724

1

L → P in NPC1. Ref.21

VAR_043228

Natural variant

727

1

V → F in NPC1. Ref.28

VAR_043229

Natural variant

734

1

S → I in NPC1. Ref.27

VAR_043230

Natural variant

742

1

E → K in NPC1. Ref.27

VAR_043231

Natural variant

745

1

A → E in NPC1. Ref.27

VAR_043232

Natural variant

754

1

M → K in NPC1. Ref.28

VAR_043233

Natural variant

757

1

V → A.

VAR_008824

Natural variant

763

1

F → L in NPC1. Ref.30

VAR_043234

Natural variant

767

1

A → V in NPC1. Ref.27

VAR_043235

Natural variant

775

1

Q → P in NPC1. Ref.21 Ref.28

VAR_043236

Natural variant

789

1

R → C in NPC1. Ref.20

VAR_043237

Natural variant

789

1

R → G in NPC1. Ref.27

VAR_043238

Natural variant

825

1

Y → C in NPC1. Ref.3 Ref.20 Ref.21 Ref.30

VAR_043239

Natural variant

849

1

S → I in NPC1. Ref.3

VAR_043240

Natural variant

858

1

I → V Common polymorphism in Japanese. Ref.3 Ref.18 Ref.23 Ref.25 Ref.28 Ref.29
Corresponds to variant rs1805082 [ dbSNP | Ensembl ].

VAR_008825

Natural variant

862

1

Q → L in NPC1. Ref.30

VAR_043241

Natural variant

865

1

S → L in NPC1. Ref.28 Ref.30

VAR_043242

Natural variant

871

1

Y → C in NPC1. Ref.30

VAR_043243

Natural variant

873

1

V → A. Ref.19

VAR_043244

Natural variant

874

1

D → V in NPC1. Ref.3 Ref.20 Ref.21 Ref.24

VAR_043245

Natural variant

888

1

P → S in NPC1. Ref.20

VAR_043246

Natural variant

889

1

V → M in NPC1; adult form. Ref.19

VAR_008826

Natural variant

890

1

Y → C in NPC1. Ref.25

VAR_043247

Natural variant

899

1

Y → D in NPC1. Ref.25

VAR_043248

Natural variant

910

1

G → S in NPC1. Ref.25

VAR_043249

Natural variant

917

1

D → Y in NPC1. Ref.30

VAR_043250

Natural variant

926

1

A → T in NPC1. Ref.28

VAR_043251

Natural variant

927

1

A → V in NPC1. Ref.22

VAR_043252

Natural variant

928

1

Q → P in NPC1.
Corresponds to variant rs28940897 [ dbSNP | Ensembl ].

VAR_008827

Natural variant

929

1

L → P in NPC1. Ref.20

VAR_043253

Natural variant

934

1

R → Q in NPC1. Ref.16 Ref.21 Ref.30

VAR_008828

Natural variant

940

1

S → L in NPC1. Ref.16 Ref.20 Ref.30

VAR_008829

Natural variant

942

1

W → C in NPC1. Ref.23 Ref.28

VAR_043254

Natural variant

943

1

I → M in NPC1. Ref.21

VAR_043255

Natural variant

944

1

D → N in NPC1. Ref.20 Ref.21 Ref.28

VAR_043256

Natural variant

945

1

D → N in NPC1. Ref.27

VAR_043257

Natural variant

948

1

D → H in NPC1. Ref.28

VAR_043258

Natural variant

948

1

D → N in NPC1. Ref.16 Ref.20 Ref.24

VAR_008830

Natural variant

948

1

D → Y in NPC1. Ref.3

VAR_043259

Natural variant

950

1

V → M in NPC1; adult form. Ref.21 Ref.30

VAR_015563

Natural variant

954

1

S → L in NPC1. Ref.3 Ref.16 Ref.19

VAR_008831

Natural variant

956

1

C → Y in NPC1; late infantile form. Ref.19

VAR_008832

Natural variant

958

1

R → L in NPC1. Ref.3

VAR_043260

Natural variant

958

1

R → Q in NPC1. Ref.20

VAR_015564

Natural variant

959

1

V → E in NPC1. Ref.28

VAR_043261

Natural variant

961 – 966

6

NITDQF → S in NPC1. Ref.31

VAR_043262

Natural variant

961

1

N → S in NPC1. Ref.31
Corresponds to variant rs34084984 [ dbSNP | Ensembl ].

VAR_043263

Natural variant

968

1

N → S in NPC1. Ref.29 Ref.30

VAR_043264

Natural variant

971

1

V → G. Ref.3

VAR_043265

Natural variant

976

1

C → R in NPC1. Ref.20

VAR_043266

Natural variant

978

1

R → C in NPC1. Ref.20 Ref.23
Corresponds to variant rs28942108 [ dbSNP | Ensembl ].

VAR_015565

Natural variant

986

1

G → S in NPC1. Ref.21

VAR_043267

Natural variant

992

1

G → A in NPC1. Ref.30

VAR_043268

Natural variant

992

1

G → R in NPC1. Ref.21 Ref.30

VAR_015566

Natural variant

992

1

G → W in NPC1; found in the Nova Scotian clinical variant. Ref.15 Ref.16 Ref.22 Ref.25 Ref.30

VAR_008833

Natural variant

996

1

M → R in NPC1. Ref.19

VAR_043269

Natural variant

1004

1

S → L in NPC1. Ref.20

VAR_043270

Natural variant

1007

1

P → A in NPC1. Ref.3 Ref.16 Ref.20 Ref.21 Ref.23 Ref.25 Ref.28 Ref.30

VAR_008834

Natural variant

1012

1

G → D in NPC1. Ref.22

VAR_043271

Natural variant

1015

1

G → V in NPC1. Ref.29

VAR_043272

Natural variant

1016

1

H → R in NPC1. Ref.27

VAR_043273

Natural variant

1023

1

V → G in NPC1. Ref.20

VAR_043274

Natural variant

1034

1

G → R in NPC1. Ref.29

VAR_043275

Natural variant

1035

1

A → V in NPC1. Ref.23 Ref.28
Corresponds to variant rs28942107 [ dbSNP | Ensembl ].

VAR_015567

Natural variant

1036

1

T → K in NPC1. Ref.28

VAR_043276

Natural variant

1036

1

T → M in NPC1. Ref.30
Corresponds to variant rs28942104 [ dbSNP | Ensembl ].

VAR_008835

Natural variant

1049

1

A → V. Ref.3

VAR_043277

Natural variant

1054

1

A → T in NPC1. Ref.21

VAR_043278

Natural variant

1059

1

R → Q in NPC1. Ref.27

VAR_043279

Natural variant

1061

1

I → T in NPC1; late infantile form. Ref.3 Ref.16 Ref.17 Ref.19 Ref.20 Ref.21 Ref.23 Ref.25 Ref.28 Ref.30

VAR_008836

Natural variant

1062

1

A → V in NPC1. Ref.30

VAR_043280

Natural variant

1066

1

T → N in NPC1. Ref.28

VAR_043281

Natural variant

1087

1

F → L in NPC1. Ref.27

VAR_043282

Natural variant

1088

1

Y → C in NPC1; juvenile form. Ref.19
Corresponds to variant rs28942106 [ dbSNP | Ensembl ].

VAR_008837

Natural variant

1089

1

E → K in NPC1. Ref.20

VAR_043283

Natural variant

1094

1

I → T in NPC1. Ref.24

VAR_043284

Natural variant

1097

1

D → N in NPC1. Ref.30

VAR_043285

Natural variant

1137

1

N → I in NPC1. Ref.27

VAR_043286

Natural variant

1140

1

G → V in NPC1. Ref.27

VAR_043287

Natural variant

1142

1

M → T in NPC1. Ref.20 Ref.21

VAR_043288

Natural variant

1150

1

N → K in NPC1. Ref.20

VAR_043289

Natural variant

1156

1

N → I in NPC1. Ref.28
Corresponds to variant rs28942105 [ dbSNP | Ensembl ].

VAR_043290

Natural variant

1156

1

N → S in NPC1. Ref.20 Ref.22 Ref.25 Ref.28
Corresponds to variant rs28942105 [ dbSNP | Ensembl ].

VAR_008838

Natural variant

1165

1

V → M in NPC1. Ref.20

VAR_043291

Natural variant

1167

1

F → L in NPC1.

VAR_008839

Natural variant

1168

1

C → Y in NPC1. Ref.21

VAR_043292

Natural variant

1174

1

A → V in NPC1. Ref.30

VAR_043293

Natural variant

1186

1

R → H in NPC1. Ref.20 Ref.21 Ref.30

VAR_008840

Natural variant

1189

1

E → G in NPC1. Ref.20

VAR_043294

Natural variant

1205

1

T → K in NPC1. Ref.27

VAR_043295

Natural variant

1205

1

T → R in NPC1. Ref.19

VAR_043296

Natural variant

1212

1

V → L in NPC1. Ref.29

VAR_043297

Natural variant

1213

1

L → F in NPC1; juvenile form. Ref.19

VAR_008841

Natural variant

1213

1

L → V in NPC1. Ref.16

VAR_008842

Natural variant

1216

1

A → V in NPC1. Ref.30

VAR_043298

Natural variant

1220

1

I → T.

VAR_008843

Natural variant

1224

1

F → L in NPC1. Ref.28

VAR_043299

Natural variant

1236

1

G → E in NPC1. Ref.19

VAR_043300

Natural variant

1240

1

G → R in NPC1. Ref.30

VAR_043301

Natural variant

1249

1

S → G in NPC1. Ref.27

VAR_043302

Natural variant

1266

1

R → Q Common polymorphism in Japanese. Ref.18 Ref.27 Ref.28 Ref.29
Corresponds to variant rs1805084 [ dbSNP | Ensembl ].

VAR_008844

Experimental info

Mutagenesis

63

1

C → S: Loss of function. Ref.5

Mutagenesis

97

1

C → S: Loss of function. Ref.5

Secondary structure

1

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1278

Helix Strand Turn

Details...

Beta strand

26 – 35

10

Beta strand

38 – 43

6

Helix

53 – 55

3

Helix

56 – 62

7

Helix

64 – 66

3

Beta strand

72 – 74

3

Helix

77 – 85

9

Helix

88 – 94

7

Helix

98 – 113

16

Helix

117 – 120

4

Beta strand

121 – 130

10

Turn

132 – 134

3

Beta strand

137 – 148

12

Helix

150 – 160

11

Beta strand

168 – 171

4

Helix

173 – 176

4

Beta strand

177 – 179

3

Turn

181 – 183

3

Helix

186 – 193

8

Helix

196 – 198

3

Beta strand

199 – 209

11

Helix

240 – 242

3

Helix

244 – 246

3

Sequences

	Sequence		Length	Mass (Da)
	O15118 [UniParc]. Last modified May 10, 2005. Version 2. Checksum: DA1523E09822E5C7	FASTA	1,278	142,167
	10 20 30 40 50 60 MTARGLALGL LLLLLCPAQV FSQSCVWYGE CGIAYGDKRY NCEYSGPPKP LPKDGYDLVQ 70 80 90 100 110 120 ELCPGFFFGN VSLCCDVRQL QTLKDNLQLP LQFLSRCPSC FYNLLNLFCE LTCSPRQSQF 130 140 150 160 170 180 LNVTATEDYV DPVTNQTKTN VKELQYYVGQ SFANAMYNAC RDVEAPSSND KALGLLCGKD 190 200 210 220 230 240 ADACNATNWI EYMFNKDNGQ APFTITPVFS DFPVHGMEPM NNATKGCDES VDEVTAPCSC 250 260 270 280 290 300 QDCSIVCGPK PQPPPPPAPW TILGLDAMYV IMWITYMAFL LVFFGAFFAV WCYRKRYFVS 310 320 330 340 350 360 EYTPIDSNIA FSVNASDKGE ASCCDPVSAA FEGCLRRLFT RWGSFCVRNP GCVIFFSLVF 370 380 390 400 410 420 ITACSSGLVF VRVTTNPVDL WSAPSSQARL EKEYFDQHFG PFFRTEQLII RAPLTDKHIY 430 440 450 460 470 480 QPYPSGADVP FGPPLDIQIL HQVLDLQIAI ENITASYDNE TVTLQDICLA PLSPYNTNCT 490 500 510 520 530 540 ILSVLNYFQN SHSVLDHKKG DDFFVYADYH THFLYCVRAP ASLNDTSLLH DPCLGTFGGP 550 560 570 580 590 600 VFPWLVLGGY DDQNYNNATA LVITFPVNNY YNDTEKLQRA QAWEKEFINF VKNYKNPNLT 610 620 630 640 650 660 ISFTAERSIE DELNRESDSD VFTVVISYAI MFLYISLALG HMKSCRRLLV DSKVSLGIAG 670 680 690 700 710 720 ILIVLSSVAC SLGVFSYIGL PLTLIVIEVI PFLVLAVGVD NIFILVQAYQ RDERLQGETL 730 740 750 760 770 780 DQQLGRVLGE VAPSMFLSSF SETVAFFLGA LSVMPAVHTF SLFAGLAVFI DFLLQITCFV 790 800 810 820 830 840 SLLGLDIKRQ EKNRLDIFCC VRGAEDGTSV QASESCLFRF FKNSYSPLLL KDWMRPIVIA 850 860 870 880 890 900 IFVGVLSFSI AVLNKVDIGL DQSLSMPDDS YMVDYFKSIS QYLHAGPPVY FVLEEGHDYT 910 920 930 940 950 960 SSKGQNMVCG GMGCNNDSLV QQIFNAAQLD NYTRIGFAPS SWIDDYFDWV KPQSSCCRVD 970 980 990 1000 1010 1020 NITDQFCNAS VVDPACVRCR PLTPEGKQRP QGGDFMRFLP MFLSDNPNPK CGKGGHAAYS 1030 1040 1050 1060 1070 1080 SAVNILLGHG TRVGATYFMT YHTVLQTSAD FIDALKKARL IASNVTETMG INGSAYRVFP 1090 1100 1110 1120 1130 1140 YSVFYVFYEQ YLTIIDDTIF NLGVSLGAIF LVTMVLLGCE LWSAVIMCAT IAMVLVNMFG 1150 1160 1170 1180 1190 1200 VMWLWGISLN AVSLVNLVMS CGISVEFCSH ITRAFTVSMK GSRVERAEEA LAHMGSSVFS 1210 1220 1230 1240 1250 1260 GITLTKFGGI VVLAFAKSQI FQIFYFRMYL AMVLLGATHG LIFLPVLLSY IGPSVNKAKS 1270 CATEERYKGT ERERLLNF

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis." Carstea E.D., Morris J.A., Coleman K.G., Loftus S.K., Zhang D., Cummings C., Gu J., Rosenfeld M.A., Pavan W.J., Krizman D.B., Nagle J., Polymeropoulos M.H., Sturley S.L., Ioannou Y.A., Higgins M.E., Comly M., Cooney A., Brown A. , Kaneski C.R., Blanchette-Mackie E.J., Dwyer N.K., Neufeld E.B., Chang T.-Y., Liscum L., Strauss J.F. III, Ohno K., Zeigler M., Carmi R., Sokol J., Markie D., O'Neill R.R., van Diggelen O.P., Elleder M., Patterson M.C., Brady R.O., Vanier M.T., Pentchev P.G., Tagle D.A. Science 277:228-231(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ILE-642, VARIANTS NPC1.
[2]	"The genomic organization and polymorphism analysis of the human Niemann-Pick C1 gene." Morris J.A., Zhang D., Coleman K.G., Nagle J., Pentchev P.G., Carstea E.D. Biochem. Biophys. Res. Commun. 261:493-498(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS.
[3]	"NPC1: complete genomic sequence, mutation analysis, and characterization of haplotypes." Bauer P., Knoblich R., Bauer C., Finckh U., Hufen A., Kropp J., Braun S., Kustermann-Kuhn B., Schmidt D., Harzer K., Rolfs A. Hum. Mutat. 19:30-38(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS NPC1 ARG-512; TRP-670; CYS-825; ILE-849; VAL-874; TYR-948; LEU-954; LEU-958; ALA-1007 AND THR-1061, VARIANTS ARG-215; ILE-642; VAL-858; GLY-971 AND VAL-1049.
[4]	"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], VARIANTS GLY-151 AND ILE-642. Tissue: Placenta.
[5]	"Niemann-Pick C1 protein: obligatory roles for N-terminal domains and lysosomal targeting in cholesterol mobilization." Watari H., Blanchette-Mackie E.J., Dwyer N.K., Glick J.M., Patel S., Neufeld E.B., Brady R.O., Pentchev P.G., Strauss J.F. III Proc. Natl. Acad. Sci. U.S.A. 96:805-810(1999) [PubMed] [Europe PMC] [Abstract] Cited for: CHARACTERIZATION, MUTAGENESIS OF CYS-63 AND CYS-97.
[6]	"Topological analysis of Niemann-Pick C1 protein reveals that the membrane orientation of the putative sterol-sensing domain is identical to those of 3-hydroxy-3-methylglutaryl-CoA reductase and sterol regulatory element binding protein cleavage-activating protein." Davies J.P., Ioannou Y.A. J. Biol. Chem. 275:24367-24374(2000) [PubMed] [Europe PMC] [Abstract] Cited for: TOPOLOGY, GLYCOSYLATION.
[7]	"Integral and associated lysosomal membrane proteins." Schroeder B., Wrocklage C., Pan C., Jaeger R., Koesters B., Schaefer H., Elsaesser H.-P., Mann M., Hasilik A. Traffic 8:1676-1686(2007) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. Tissue: Placenta.
[8]	"NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes." Infante R.E., Wang M.L., Radhakrishnan A., Kwon H.J., Brown M.S., Goldstein J.L. Proc. Natl. Acad. Sci. U.S.A. 105:15287-15292(2008) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION.
[9]	"Identification of cholesterol-regulating genes by targeted RNAi screening." Bartz F., Kern L., Erz D., Zhu M., Gilbert D., Meinhof T., Wirkner U., Erfle H., Muckenthaler M., Pepperkok R., Runz H. Cell Metab. 10:63-75(2009) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH TMEM97.
[10]	"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry." Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H. J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-135 AND ASN-524, MASS SPECTROMETRY. Tissue: Liver.
[11]	"NPC1/NPC2 function as a tag team duo to mobilize cholesterol." Subramanian K., Balch W.E. Proc. Natl. Acad. Sci. U.S.A. 105:15223-15224(2008) [PubMed] [Europe PMC] [Abstract] Cited for: REVIEW ON FUNCTION.
[12]	"Transfer of cholesterol by the NPC team." Vance J.E. Cell Metab. 12:105-106(2010) [PubMed] [Europe PMC] [Abstract] Cited for: REVIEW ON FUNCTION.
[13]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[14]	"Function of the Niemann-Pick type C proteins and their bypass by cyclodextrin." Vance J.E., Peake K.B. Curr. Opin. Lipidol. 22:204-209(2011) [PubMed] [Europe PMC] [Abstract] Cited for: REVIEW ON FUNCTION.
[15]	"The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1." Greer W.L., Riddell D.C., Gillan T.L., Girouard G.S., Sparrow S.M., Byers D.M., Dobson M.J., Neumann P.E. Am. J. Hum. Genet. 63:52-54(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT NPC1 TRP-992.
[16]	"Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain." Greer W.L., Dobson M.J., Girouard G.S., Byers D.M., Riddell D.C., Neumann P.E. Am. J. Hum. Genet. 65:1252-1260(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS NPC1 GLN-934; LEU-940; ASN-948; LEU-954; TRP-992; ALA-1007; THR-1061 AND VAL-1213.
[17]	"Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype." Millat G., Marcais C., Rafi M.A., Yamamoto T., Morris J.A., Pentchev P.G., Ohno K., Wenger D.A., Vanier M.T. Am. J. Hum. Genet. 65:1321-1329(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT NPC1 THR-1061.
[18]	"NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C." Yamamoto T., Nanba E., Ninomiya H., Higaki K., Taniguchi M., Zhang H., Akaboshi S., Watanabe Y., Takeshima T., Inui K., Okada S., Tanaka A., Sakuragawa N., Millat G., Vanier M.T., Morris J.A., Pentchev P.G., Ohno K. Hum. Genet. 105:10-16(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS NPC1, VARIANTS ARG-215; VAL-858 AND GLN-1266.
[19]	"Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts." Yamamoto T., Ninomiya H., Matsumoto M., Ohta Y., Nanba E., Tsutsumi Y., Yamakawa K., Millat G., Vanier M.T., Pentchev P.G., Ohno K. J. Med. Genet. 37:707-712(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS NPC1 GLY-177; SER-237; PRO-473; PRO-510; GLN-518; SER-703; MET-889; LEU-954; TYR-956; ARG-996; THR-1061; CYS-1088; ARG-1205; PHE-1213 AND GLU-1236, VARIANT ALA-873.
[20]	"Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1." Sun X., Marks D.L., Park W.D., Wheatley C.L., Puri V., O'Brien J.F., Kraft D.L., Lundquist P.A., Patterson M.C., Pagano R.E., Snow K. Am. J. Hum. Genet. 68:1361-1372(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS NPC1 ARG-92; MET-137; SER-237; ASN-242; VAL-248; THR-401; GLN-404; ASP-612; TRP-652; CYS-789; CYS-825; VAL-874; SER-888; PRO-929; LEU-940; ASN-944; ASN-948; GLN-958; ARG-976; CYS-978; LEU-1004; ALA-1007; GLY-1023; THR-1061; LYS-1089; THR-1142; LYS-1150; SER-1156; MET-1165; HIS-1186 AND GLY-1189.
[21]	"Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop." Millat G., Marcais C., Tomasetto C., Chikh K., Fensom A.H., Harzer K., Wenger D.A., Ohno K., Vanier M.T. Am. J. Hum. Genet. 68:1373-1385(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS NPC1 SER-237; HIS-242; ARG-272; ALA-378; GLN-404; GLN-518; VAL-605; ARG-631; PRO-724; PRO-775; CYS-825; VAL-874; GLN-934; MET-943; ASN-944; MET-950; SER-986; ARG-992; ALA-1007; THR-1054; THR-1061; THR-1142; TYR-1168 AND HIS-1186.
[22]	"Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C." Meiner V., Shpitzen S., Mandel H., Klar A., Ben-Neriah Z., Zlotogora J., Sagi M., Lossos A., Bargal R., Sury V., Carmi R., Leitersdorf E., Zeigler M. Genet. Med. 3:343-348(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS NPC1 ARG-63; GLN-404; VAL-927; TRP-992; ASP-1012 AND SER-1156.
[23]	"Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations." Ribeiro I., Marcao A., Amaral O., Sa Miranda M.C., Vanier M.T., Millat G. Hum. Genet. 109:24-32(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS NPC1 ARG-92; TYR-177; TRP-518; CYS-942; CYS-978; ALA-1007 VAL-1035 AND THR-1061, VARIANTS ARG-215; ILE-642 AND VAL-858.
[24]	"Identification of novel mutations in the NPC1 gene in German patients with Niemann-Pick C disease." Kaminski W.E., Kluenemann H.H., Ibach B., Aslanidis C., Klein H.E., Schmitz G. J. Inherit. Metab. Dis. 25:385-389(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS NPC1 GLY-231; SER-237; VAL-874 ASN-948 AND THR-1094, VARIANTS CYS-381 AND ILE-642.
[25]	"Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts." Tarugi P., Ballarini G., Bembi B., Battisti C., Palmeri S., Panzani F., Di Leo E., Martini C., Federico A., Calandra S. J. Lipid Res. 43:1908-1919(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS NPC1 LYS-451; LEU-474; CYS-890; ASP-899; SER-910; TRP-992; ALA-1007; THR-1061 AND SER-1156, VARIANTS ARG-215; ILE-642 AND VAL-858.
[26]	"Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease." Blom T.S., Linder M.D., Snow K., Pihko H., Hess M.W., Jokitalo E., Veckman V., Syvaenen A.-C., Ikonen E. Hum. Mol. Genet. 12:257-272(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT NPC1 ARG-113, VARIANT SER-273, CHARACTERIZATION OF VARIANT NPC1 ARG-113, CHARACTERIZATION OF VARIANT SER-273.
[27]	"Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1." Park W.D., O'Brien J.F., Lundquist P.A., Kraft D.L., Vockley C.W., Karnes P.S., Patterson M.C., Snow K. Hum. Mutat. 22:313-325(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS NPC1 TYR-74; SER-166; SER-222; TYR-247; PHE-380; PRO-388; CYS-389; TRP-404; LEU-433; SER-509; SER-521; LEU-543; CYS-615; ARG-640; SER-660; MET-664; VAL-673; PHE-684; LEU-691; VAL-695; ASN-700; ILE-734; LYS-742; GLU-745; VAL-767; GLY-789; ASN-945; ARG-1016; GLN-1059; LEU-1087; ILE-1137; VAL-1140; LYS-1205 AND GLY-1249, VARIANTS ARG-215; SER-237; SER-434 AND GLN-1266.
[28]	"Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations." Fernandez-Valero E.M., Ballart A., Iturriaga C., Lluch M., Macias J., Vanier M.T., Pineda M., Coll M.J. Clin. Genet. 68:245-254(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS NPC1 MET-137; TYR-177; TRP-372; LEU-434; LEU-474; TYR-479; ARG-576; MET-664; PHE-727; LYS-754; PRO-775; LEU-865; THR-926; CYS-942; ASN-944; HIS-948; GLU-959; 961-ASN--PHE-966 DELINS SER; ALA-1007; VAL-1035; LYS-1036; THR-1061; ASN-1066; ILE-1156; SER-1156 AND LEU-1224, VARIANTS ARG-215; ILE-642; VAL-858 AND GLN-1266.
[29]	"Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C." Yang C.-C., Su Y.-N., Chiou P.-C., Fietz M.J., Yu C.-L., Hwu W.-L., Lee M.-J. J. Neurol. Neurosurg. Psych. 76:592-595(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS NPC1 SER-968; VAL-1015; ARG-1034 AND LEU-1212, VARIANTS ARG-215; ILE-642; VAL-858 AND GLN-1266.
[30]	"Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families." Millat G., Baielo N., Molinero S., Rodriguez C., Chikh K., Vanier M.T. Mol. Genet. Metab. 86:220-232(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS NPC1 SER-166; TYR-177; PRO-404; LEU-537; LEU-543; LEU-615; ARG-631; LEU-763; CYS-825; LEU-862; LEU-865; CYS-871; TYR-917; GLN-934; LEU-940; MET-950; SER-968; ALA-992; ARG-992; TRP-992; ALA-1007; MET-1036; THR-1061; VAL-1062; ASN-1097; VAL-1174; HIS-1186; VAL-1216 AND ARG-1240, VARIANT MET-511.
[31]	"Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?" Dvorakova L., Sikora J., Hrebicek M., Hulkova H., Bouckova M., Stolnaja L., Elleder M. J. Inherit. Metab. Dis. 29:591-591(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS NPC1 ASN-666 AND SER-961.
+	Additional computationally mapped references.

Web resources

Niemann-Pick type C disease gene variation database

GeneReviews

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

AF002020 mRNA. Translation: AAB63982.1.
AF157379 , AF157365, AF157366, AF157367, AF157368, AF157369, AF157370, AF157371, AF157372, AF157373, AF157374, AF157375, AF157376, AF157377, AF157378 Genomic DNA. Translation: AAD48006.1.
AF338230 Genomic DNA. Translation: AAK25791.1.
AH009108 Genomic DNA. Translation: AAF28875.1.
BC063302 mRNA. Translation: AAH63302.1.

IPI

IPI00005107.

RefSeq

NP_000262.2. NM_000271.4.

UniGene

Hs.464779.
Hs.715623.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
3GKH	X-ray	1.81	A	23-252	[»]
3GKI	X-ray	1.80	A	23-252	[»]
3GKJ	X-ray	1.60	A	23-252	[»]

ProteinModelPortal

O15118.

ModBase

Search...

Protein-protein interaction databases

IntAct

O15118. 4 interactions.

STRING

9606.ENSP00000269228.

Protein family/group databases

TCDB

2.A.6.6.1. resistance-nodulation-cell division (RND) superfamily.

PTM databases

PhosphoSite

O15118.

Proteomic databases

PaxDb

O15118.

PeptideAtlas

O15118.

PRIDE

O15118.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000269228; ENSP00000269228; ENSG00000141458.

GeneID

4864.

KEGG

hsa:4864.

UCSC

uc002kum.4. human.

Organism-specific databases

CTD

4864.

GeneCards

GC18M021111.

H-InvDB

HIX0039703.

HGNC

HGNC:7897. NPC1.

HPA

HPA026618.

MIM

257220. phenotype.
607623. gene.

neXtProt

NX_O15118.

Orphanet

216986. Niemann-Pick disease type C, adult neurologic onset.
216981. Niemann-Pick disease type C, juvenile neurologic onset.
216978. Niemann-Pick disease type C, late infantile neurologic onset.
216975. Niemann-Pick disease type C, severe early infantile neurologic onset.
216972. Niemann-Pick disease type C, severe perinatal.

PharmGKB

PA31698.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG149152.

HOVERGEN

HBG003913.

InParanoid

O15118.

KO

K12385.

OMA

DGYDLVQ.

OrthoDB

EOG46DM1Z.

PhylomeDB

O15118.

Gene expression databases

ArrayExpress

O15118.

Bgee

O15118.

CleanEx

HS_NPC1.

Genevestigator

O15118.

GermOnline

ENSG00000141458. Homo sapiens.

Family and domain databases

InterPro

IPR004765. NP_C_type.
IPR003392. Patched.
IPR000731. SSD.
[Graphical view]

Pfam

PF02460. Patched. 1 hit.
[Graphical view]

TIGRFAMs

TIGR00917. 2A060601. 1 hit.

PROSITE

PS50156. SSD. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

ChEMBL

CHEMBL1293277.

EvolutionaryTrace

O15118.

GenomeRNAi

4864.

NextBio

18738.

SOURCE

Search...

Entry information

Entry name

NPC1_HUMAN

Accession

Primary (citable) accession number: O15118
Secondary accession number(s): Q9P130

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	May 10, 2005
Last modified:	May 1, 2013
This is version 126 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.