| Gene Information | |
|---|---|
| Gene Name | BLTP1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 5005 |
| Protein Names | Bridge-like lipid transfer protein family member 1 (Fragile site-associated protein) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 645 ( ENSG00000138688 ) |
| Evolutionary Stage | Eumetazoa |
| AlphaFoldDB | NA |
| Gene Card | KIAA1109 |
| Uniprot ID | Q2LD37 |
| Pfam | PF10479 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | substantia.nigra, zone.of.skin |
| Tissue Specificity | Highly expressed in testis and ovary. Weakly or not expressed in other tissues. {ECO:0000269|PubMed:16545529}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs1051597475 rs6848868 rs770791100 rs368227278 rs1554025656 rs56363411 rs1263871665 rs45608936 rs1554059454 rs2306369 rs10017270 |
| Subcellular location [CC] | Cell membrane {ECO:0000250|UniProtKB:Q12150}; Single-pass membrane protein {ECO:0000255}. Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q12150}; Single-pass membrane protein {ECO:0000255}. Mitochondrion membrane {ECO:0000250|UniProtKB:Q12150}; Single-pass membrane protein {ECO:0000255}. Note=Localizes to endoplasmic reticulum-cell membrane and some endoplasmic reticulum-mitochondria contact sites. {ECO:0000250|UniProtKB:Q12150}. |
| Mouse PG classification | NA |
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