| Gene Information |
| Gene ID: | | 5831 |
| Symbol: | | PYCR1 |
| Full Name: | | pyrroline-5-carboxylate reductase 1 |
| Alias: | | P5C|P5CR|PIG45|PP222|PYCR |
| Organism: | | Homo sapiens (Human) |
| Chromosome: | | 17 |
| Genetic Location: | | 17q25.3 |
| Physical Location: | | 77483557-77488258 on NC_000017.9, complement |
| Gene Type: | | protein-coding |
| Orthologs: | | This gene has no orthologs in other dataset(s). |
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| Gene in Ethanol Study Datasets |
| Linkage Dataset | | Marker | LOD | P value | Location (bp) | |
| D17S928 | | | 77846128 | | Region: | | 75846128-78774742 | | Phenotype: | | Alcoholism phenotype along with age, gender, and P300 or constraint | | Name: | | 15211641 | | Method: | | Linkage | | Publication: | | Hill et al. Am J Med Genet B Neuropsychiatr Genet. (2004) A genome wide search for alcoholism susceptibility genes. PubMed | | Summary: | | A total of 360 markers for 22 autosomes were spaced at an average distance of 9.4cMand genotyping performed for 330 members of these multiplex families. Extensive clinical data, personality variation, and event-related potential characteristics were available for reducing heterogeneity and detecting robust linkage signals. Multipoint linkage analysis using different analytic strategies give strong support for loci on chromosomes 1, 2, 6, 7, 10, 12, 14, 16, and 17. Thirty five markers with LOD score >2.0 at baseline using the binary alcoholism phenotype along with age, gender, and P300 or constraint (Table III). Here we listed the genes between two near markers or genes near a separate marker (within 2Mb). |
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| Gene Refseq Sequence Annotation |
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| Gene Ontology (GO) Annotation |
| GO ID | GO Term | Category | Evidence (PubMed) | |
| GO:0005739 | mitochondrion | Cellular Component | IEA | |
| GO:0004735 | pyrroline-5-carboxylate reductase activity | Molecular Function | TAS (1730675) | |
| GO:0005488 | binding | Molecular Function | IEA | |
| GO:0016491 | oxidoreductase activity | Molecular Function | IEA | |
| GO:0006561 | proline biosynthetic process | Biological Process | TAS (1730675) | |
| GO:0008152 | metabolic process | Biological Process | IEA | |
| GO:0008652 | amino acid biosynthetic process | Biological Process | IEA | |
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| Other Database Cross Links |
| NCBI Entrez Gene: | | 5831 |
| HGNC: | | 9721 |
| Ensembl: | | ENSG00000183010 |
| MIM: | | 179035 |
| HPRD: | | 01528 |
| HuGE Navigator: | | 5831 |
| dbSNP: | | PYCR1 |
| GeneCard: | | PYCR1 |
| AceView: | | PYCR1 |
