Tbio ABCA4 Retinal-specific ATP-binding cassette transporter

Protein Summary

Description

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. May play a role in photoresponse, removing ATR/NR-PE from the extracellular photoreceptor surfaces during bleach recovery. The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, indicating the gene product mediates transport of an essental molecule across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular degeneration age-related 2. [provided by RefSeq, Jul 2008]

Uniprot Accession IDs

• P78363
• O15112
• O60438
• O60915
• Q0QD48
• Q4LE31

Gene Name

• ABCA4

Ensembl ID

• ENST00000370225
• ENSP00000359245
• ENSG00000198691

Symbol

• ABCR
• FFM
• RMP
• ABCR
• RP19
• STGD
• ABC10
• ARMD2
• CORD3
• STGD1

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
molecular function	1
gene perturbation	0.98
trait	0.86
cellular component	0.85
protein domain	0.85

Protein Classes

PANTHER Classes

Protein / Transporter / Atp-binding Cassette (Abc) Transporter / Retinal-specific Atp-binding Cassette Transporter

DTO Classes

Protein / Transporter / Atp-binding Cassette Transporter Family / Abca Subfamily / Retinal-specific Atp-binding Cassette Transporter

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1516.97   (req: < 5)

Gene RIFs: 258   (req: <= 3)

Antibodies: 164   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1516.97   (req: >= 5)

Gene RIFs: 258   (req: > 3)

Antibodies: 164   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 17

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0