| Gene Information | |
|---|---|
| Gene Name | LEPREL1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 708 |
| Protein Names | Prolyl 3-hydroxylase 2 (EC 1.14.11.7) (Leprecan-like protein 1) (Myxoid liposarcoma-associated protein 4) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q8IVL5 |
| Gene Card | P3H2 |
| Uniprot ID | Q8IVL5 |
| Pfam | PF13640 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Expression localized to the epithelia of bile ducts and to the sacroplasm of heart muscle and skeletal muscle. In the pancreas, localized to a subpopulation of Langerhans islet cells and in the salivary gland, expressed in acinar cells (at protein level) (PubMed:15063763). Expressed in adult heart, placenta, lung, liver, skeletal muscle and kidney (PubMed:15063763, PubMed:18487197). Detected in fetal heart, spleen, lung, liver skeletal muscle and kidney (PubMed:18487197). {ECO:0000269|PubMed:15063763, ECO:0000269|PubMed:18487197}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs724159988 |
| Subcellular location [CC] | Endoplasmic reticulum {ECO:0000255|PROSITE-ProRule:PRU10138, ECO:0000269|PubMed:15063763}. Sarcoplasmic reticulum {ECO:0000305|PubMed:15063763}. Golgi apparatus {ECO:0000269|PubMed:15063763}. |
| Mouse PG classification | NA |
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