| Gene Information |
| Gene ID: | | 6690 |
| Symbol: | | SPINK1 |
| Full Name: | | serine peptidase inhibitor, Kazal type 1 |
| Alias: | | PCTT|PSTI|Spink3|TATI |
| Organism: | | Homo sapiens (Human) |
| Chromosome: | | 5 |
| Genetic Location: | | 5q32 |
| Physical Location: | | 147184338-147191452 on NC_000005.8, 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 | | | Dataset Information | | Name: | | Literature Search | | Method: | | Literature search | | Summary: | | We search all human protein coding gene names and the keywords Alcohol or Ethanol or Alcoholism in the title or abstract of all PUBMED publications. For those gene name less than 3 characters or search result hits more than 100, we use the full name to search again and manually check the results to reduce false positive. |
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| Gene Information | | Original ID | No. of Publications | Phenotype | |
| SPINK1 | 8 | Alcohol-Induced Disorders | | SPINK1 | 1 | Alcoholism | | SPINK1 | 8 | Alcohol-Related Disorders |
| | HuGE Navigator Dataset | | Name: | | HuGE Navigator | | Method: | | Literature data mining | | Publication: | | Wei Yu, Melinda Clyne, Anja Wulf, Ajay Yesupriya, Marta Gwinn and Muin J. Khoury. Phenopedia. HuGE Navigator. Available at: http://www.hugenavigator.net/HuGENavigator/startPagePhenoPedia.do. Accessed [Jun. 10, 2008]. | | Summary: | | HuGE Navigator Phenopedia provides a disease-centered view of genetic association studies summarized in the online Human Genome Epidemiology (HuGE) encyclopedia. We extracted genes associated to 9 Alcohol-related diseases (Alcohol Amnestic Disorder; Alcohol Withdrawal Delirium; Alcohol Withdrawal Seizures; Alcohol-Induced Disorders; Alcohol-Induced Disorders, Nervous System; Alcohol-Related Disorders; Alcoholic Intoxication; Alcoholic Neuropathy; Alcoholism) from HuGE Navigator Phenopedia. |
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| Gene Refseq Sequence Annotation |
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| Gene Ontology (GO) Annotation |
| GO ID | GO Term | Category | Evidence (PubMed) | |
| GO:0005576 | extracellular region | Cellular Component | IEA | |
| GO:0004867 | serine-type endopeptidase inhibitor activity | Molecular Function | IEA | |
| GO:0005515 | protein binding | Molecular Function | IPI (14507909) | |
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| Other Database Cross Links |
| NCBI Entrez Gene: | | 6690 |
| HGNC: | | 11244 |
| Ensembl: | | ENSG00000164266 |
| MIM: | | 167790 |
| HPRD: | | 01341 |
| HuGE Navigator: | | 6690 |
| dbSNP: | | SPINK1 |
| GeneCard: | | SPINK1 |
| AceView: | | SPINK1 |
