| Gene Information | |
|---|---|
| Gene Name | ABCA5 |
| Organism | Homo sapiens (Human) |
| Gene Length | 1642 |
| Protein Names | Cholesterol transporter ABCA5 (EC 7.6.2.-) (ATP-binding cassette sub-family A member 5) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 1064 ( ENSG00000154265 ) |
| Evolutionary Stage | Euk+Bac |
| AlphaFoldDB | Q8WWZ7 |
| Gene Card | ABCA5 |
| Uniprot ID | Q8WWZ7 |
| Pfam | PF00005 |
| In ASD | no |
| Allosteric Prediction | no (-0.231008153) |
| Ortholog in Animals | Alpaca_ ABCA5 ( ortholog_one2one ) Dog_ ABCA5 ( ortholog_one2one ) GuineaPig_ ABCA5 ( ortholog_one2one ) Macaque_ ABCA5 ( ortholog_one2one ) Mouse_ Abca5 ( ortholog_one2one ) Pig_ ABCA5 ( ortholog_one2one ) Rat_ Abca5 ( ortholog_one2one ) Rabbit_ ABCA5 ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | ABCA9, ABCA12, ABCA7, ABCA8, ABCA13, ABCA3, ABCA1, ABCA2, ABCA6, ABCA10, ABCA4 |
| Tissue | NA |
| Tissue Specificity | Ubiquitously expressed. Highly expressed in testis, skeletal muscle, kidney, liver and placenta. Expressed in both the epithelial and mesenchymal compartments, present within the outer root sheath (ORS) of the hair follicle as well as dermal sheath (PubMed:24831815). Expressed in multiple regions of the brain, including the hippocampus, superior frontal and inferior temporal cortices (PubMed:25125465). Strongly expressed in neurons and moderately in microglia, with only weak expression in astrocytes and oligodendrocytes (PubMed:25125465). {ECO:0000269|PubMed:12504089, ECO:0000269|PubMed:24831815, ECO:0000269|PubMed:25125465, ECO:0000269|Ref.1}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | NA |
| DBSNP | rs12383 rs11544715 rs17686569 rs9898003 rs536009 rs557491 rs11544716 |
| Subcellular location [CC] | Golgi apparatus membrane {ECO:0000250|UniProtKB:Q8CF82}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q8CF82}. Lysosome membrane {ECO:0000250|UniProtKB:Q8K448}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q8K448}. Late endosome membrane {ECO:0000250|UniProtKB:Q8K448}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q8K448}. Cell membrane {ECO:0000250|UniProtKB:Q8K448}. Note=Localized at cell membrane under high cholesterol levels. {ECO:0000250|UniProtKB:Q8K448}. |
| Mouse PG classification | NA |
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