| General Information of DT | |||||
|---|---|---|---|---|---|
| DT ID | DTD0042 | ||||
| Gene Name | ABCA4 | ||||
| Protein Name | ATP-binding cassette sub-family A member 4 | ||||
| Gene ID | |||||
| UniProt ID | |||||
| TCDB ID | |||||
| 3D Structure |
Modelled DT Structure Method:homology modeling Template PDB:5XJY_A Identity:50.35% Minimized Score:-1123.451 kcal/mol Detail: Structure Info |
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| Synonyms | ABC10; ABCA4; ABCR; ARMD2; CORD3; FFM; RIM ABC transporter; RIM protein; RP19; Retinal-specific ATP-binding cassette transporter; RmP; STGD; STGD1; Stargardt disease protein | ||||
| DT Family | ATP-Binding Cassette (ABC) Superfamily | ||||
| Cholesterol/Phospholipid/Retinal (CPR) Flippase Family (ABCA) | |||||
| Tissue Specificity | Retinal-specific. Seems to be exclusivelyfound in the rims of rod photoreceptor cells. | ||||
| Function | This transporter may play a role in photoresponse, removing ATR/NR-PE from the extracellular photoreceptor surfaces during bleach recovery. In the visual cycle, acts as an inward-directed retinoid flipase, retinoid substrates imported by ABCA4 from the extracellular or intradiscal (rod) membrane surfaces to the cytoplasmic membrane surface are all-trans-retinaldehyde (ATR) and N-retinyl-phosphatidyl-ethanolamine (NR-PE). Once transported to the cytoplasmic surface, ATR is reduced to vitamin A by trans-retinol dehydrogenase (tRDH) and then transferred to the retinal pigment epithelium (RPE) where it is converted to 11-cis-retinal. | ||||
| Endogenous Substrate(s) | N-retinylidene-phosphatidylethanolamine; Retinal | ||||
| Variability Data of This Drug Transporter (DT) | |||||
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Regulatory Variability Data of This DT (VARIDT 4.0) |
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(α) Tissue Distribution Level of ATP-binding cassette sub-family A member 4 |
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(β) Cell Distribution Level of ATP-binding cassette sub-family A member 4 |
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(γ) Organelle Distribution Level of ATP-binding cassette sub-family A member 4 |
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Regulatory Variability Data of This DT |
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(β) Post-translational Modification of ATP-binding cassette sub-family A member 4 |
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(γ) Transcriptional Regulation of ATP-binding cassette sub-family A member 4 |
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(δ) Epigenetic Regulation of ATP-binding cassette sub-family A member 4 |
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(ε) Exogenous Modulation of ATP-binding cassette sub-family A member 4 |
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Structural Variability Data of This DT |
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(β) Inter-species Structural Differences |
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(γ) Outward/inward-facing Conformation |
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General Variability Data of This DT |
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(α) Genetic Polymorphisms of ATP-binding cassette sub-family A member 4 |
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(β) Disease-specific Protein Abundances of ATP-binding cassette sub-family A member 4 |
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(γ) Species- and Tissue-specific DT Abundances |
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