| Gene Information |
| Gene ID: | | 4864 |
| Symbol: | | NPC1 |
| Full Name: | | Niemann-Pick disease, type C1 |
| Alias: | | NPC |
| Organism: | | Homo sapiens (Human) |
| Chromosome: | | 18 |
| Genetic Location: | | 18q11-q12 |
| Physical Location: | | 19365460-19420467 on NC_000018.8, complement |
| Gene Type: | | protein-coding |
| Orthologs: | | This gene has no orthologs in other dataset(s). |
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| Gene in Ethanol Study Datasets |
| Gene Information | | Original ID1: | | AF002020 | | Fold Change: | | 2.04 |
| | Dataset Information | | Name: | | 15236863 | | Method: | | Microarray | | Tissue: | | Prefrontal cortex | | Phenotype: | | Alcohol dependence (AD)/Alcohol abuse/Alcoholism | | Publication: | | Iwamoto et al. Neurosci Res. (2004) Decreased expression of NEFH and PCP4/PEP19 in the prefrontal cortex of alcoholics. PubMed | | Summary: | | We have performed oligonucleotide microarray analysis in postmortem prefrontal cortices of alcoholics. Among about 12,000 genes represented on microarray, a total of 79 genes showed differential expression changes in alcoholics compared with control subjects, consisting of 54 up- and 25 down-regulated genes. |
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| Gene Refseq Sequence Annotation |
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| Gene Ontology (GO) Annotation |
| GO ID | GO Term | Category | Evidence (PubMed) | |
| GO:0048471 | perinuclear region of cytoplasm | Cellular Component | IDA (12554680) | |
| GO:0005635 | nuclear envelope | Cellular Component | IDA (12554680) | |
| GO:0005765 | lysosomal membrane | Cellular Component | IEA | |
| GO:0005768 | endosome | Cellular Component | IEA | |
| GO:0005783 | endoplasmic reticulum | Cellular Component | IDA (12554680) | |
| GO:0005887 | integral to plasma membrane | Cellular Component | IDA (10821832) | |
| GO:0031902 | late endosome membrane | Cellular Component | IEA | |
| GO:0016020 | membrane | Cellular Component | IEA | |
| GO:0015248 | sterol transporter activity | Molecular Function | TAS (9927649) | |
| GO:0005515 | protein binding | Molecular Function | IPI (16757520) | |
| GO:0008158 | hedgehog receptor activity | Molecular Function | IEA | |
| GO:0030301 | cholesterol transport | Biological Process | IEA | |
| GO:0007041 | lysosomal transport | Biological Process | ISS | |
| GO:0042632 | cholesterol homeostasis | Biological Process | IDA (12719428) | |
| GO:0042632 | cholesterol homeostasis | Biological Process | ISS | |
| GO:0008206 | bile acid metabolic process | Biological Process | ISS | |
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| Other Database Cross Links |
| NCBI Entrez Gene: | | 4864 |
| HGNC: | | 7897 |
| Ensembl: | | ENSG00000141458 |
| MIM: | | 607623 |
| HPRD: | | 09622 |
| HuGE Navigator: | | 4864 |
| dbSNP: | | NPC1 |
| GeneCard: | | NPC1 |
| AceView: | | NPC1 |
