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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 ABC ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000370225
  • ENSP00000359245
  • ENSG00000198691

Symbol
  • ABCR
  • FFM
  • RMP
  • ABCR
  • RP19
  • STGD
  • ABC10
  • ARMD2
  • CORD3
  • STGD1
Illumination Graph
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


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
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: 667.49   (req: < 5)
Gene RIFs: 167   (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: 667.49   (req: >= 5)
Gene RIFs: 167   (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
GWAS Traits (3)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
3
3
0
1.5
93.5
Cleft palate
2
2
0
1.5
85.4
Oral cleft
1
2
0
1.4
78.9
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
0
1.5
93.5
Cleft palate
0
1.5
85.4
Oral cleft
0
1.4
78.9
Orthologs (13)
1 – 5 of 13
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
ATP binding cassette subfamily A member 4
VGNC:21
745972
Macaque
ATP binding cassette subfamily A member 4
714054
Mouse
MGI:109424
11304
Rat
RGD:1309445
310836
Dog
ATP binding cassette subfamily A member 4
VGNC:37427
444852
Species
Name
OMA
EggNOG
Inparanoid
Chimp
ATP binding cassette subfamily A member 4
Macaque
ATP binding cassette subfamily A member 4
Mouse
Rat
Dog
ATP binding cassette subfamily A member 4
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-P78363-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (13)
ABC-family proteins mediated transport (R-HSA-382556)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 12
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
ABC-family proteins mediated transport
Reactome
Disease
Reactome
Diseases associated with visual transduction
Reactome
Diseases of signal transduction
Reactome
G alpha (i) signalling events
Name
Explore in Pharos
Explore in Source
ABC-family proteins mediated transport
Disease
Diseases associated with visual transduction
Diseases of signal transduction
G alpha (i) signalling events
Gene Ontology Terms (21)
Items per page:
10
1 – 9 of 9
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
BHF-UCL
Inferred from Direct Assay (IDA)
BHF-UCL
Inferred from Biological aspect of Ancestor (IBA)
GO_Central
Inferred from Biological aspect of Ancestor (IBA)
GO_Central
Inferred from Biological aspect of Ancestor (IBA)
GO_Central
Inferred from Biological aspect of Ancestor (IBA)
GO_Central
Traceable Author Statement (TAS)
ProtInc
Traceable Author Statement (TAS)
Reactome
Traceable Author Statement (TAS)
ProtInc
Protein-Protein Interactions (103)
1 – 10 of 103
ELOVL4
Tbio
Novelty: 0.00737822
Score: 0.8
Data Source: STRINGDB
RDH8
Tbio
Family: Enzyme
Novelty: 0.06071472
Score: 0.778
Data Source: STRINGDB
RPE65
Tbio
Family: Enzyme
Novelty: 0.00147985
Score: 0.748
Data Source: STRINGDB
CNGB1
Tbio
Family: IC
Novelty: 0.01034916
Score: 0.736
Data Source: STRINGDB
USH2A
Tbio
Novelty: 0.00223387
Score: 0.724
Data Source: STRINGDB
IMPG1
Tbio
Novelty: 0.03770903
Score: 0.723
Data Source: STRINGDB
PRPH2
Tbio
Novelty: 0.003038
Score: 0.71
Data Source: STRINGDB
RHO
Tbio
Family: GPCR
Novelty: 0.00012925
Score: 0.705
Data Source: STRINGDB
RPGR
Tbio
Family: Enzyme
Novelty: 0.002733
Score: 0.704
Data Source: STRINGDB
RDH12
Tbio
Family: Enzyme
Novelty: 0.016003
Score: 0.684
Data Source: STRINGDB
Publication Statistics
PubMed Score  667.49

PubMed score by year
PubTator Score  505.07

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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