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: 700.05   (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: 700.05   (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

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Expression Data (0 Tissues)

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No expression data found

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.

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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.

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GlyGen

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (103)

Explore Interacting Targets

1 – 10 of 103

• See Interactions on String-DB

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

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (13)

Reactome (12)

KEGG (1)

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

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	ABC-family proteins mediated transport	104 targets	R-HSA-382556
Reactome	Disease	1105 targets	R-HSA-1643685
Reactome	Diseases associated with visual transduction	13 targets	R-HSA-2474795
Reactome	Diseases of signal transduction	387 targets	R-HSA-5663202
Reactome	G alpha (i) signalling events	408 targets	R-HSA-418594

Name	Explore in Pharos	Explore in Source
ABC-family proteins mediated transport	104 targets	R-HSA-382556
Disease	1105 targets	R-HSA-1643685
Diseases associated with visual transduction	13 targets	R-HSA-2474795
Diseases of signal transduction	387 targets	R-HSA-5663202
G alpha (i) signalling events	408 targets	R-HSA-418594

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (21)

Functions (9)

Components (4)

Processes (8)

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1 – 9 of 9

GO Term	Evidence	Assigned by
ATPase activity	Inferred from Direct Assay (IDA)	BHF-UCL
phosphatidylethanolamine-translocating ATPase activity	Inferred from Direct Assay (IDA)	BHF-UCL
ATPase activity, coupled to transmembrane movement of substances	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
lipid transporter activity	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
phospholipid transporter activity	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
phospholipid-translocating ATPase activity	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
ATP binding	Traceable Author Statement (TAS)	ProtInc
eye pigment precursor transporter activity	Traceable Author Statement (TAS)	Reactome
transporter activity	Traceable Author Statement (TAS)	ProtInc

Disease Associations ()

No disease associations found

GWAS Traits (5)

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GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
cleft lip	EFO_0003959	3	3	0	1.5	84
Cleft palate	HP_0000175	2	2	0	1.5	80
Oral cleft	HP_0000202	1	2	0	1.4	74.7
serum non-albumin protein measurement	EFO_0004568	1	1	1		64.4
aspartate aminotransferase measurement	EFO_0004736	1	1	0	7.4	58.4

• Explore on Target Illumination GWAS Analytics (TIGA)

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GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
cleft lip	EFO_0003959	0	1.5	84
Cleft palate	HP_0000175	0	1.5	80
Oral cleft	HP_0000202	0	1.4	74.7
serum non-albumin protein measurement	EFO_0004568	1		64.4
aspartate aminotransferase measurement	EFO_0004736	0	7.4	58.4

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Find similar targets by:

UniProt Keyword Find Similar Targets

No Header	No Header
Age-related macular degeneration
ATP-binding
Complete proteome
Cone-rod dystrophy
Disease mutation
Disulfide bond
Glycoprotein
Membrane
Nucleotide-binding
Polymorphism

GWAS Trait Find Similar Targets

No Header	No Header
aspartate aminotransferase measurement
cleft lip
Cleft palate
Oral cleft
serum non-albumin protein measurement

MGI Phenotype Find Similar Targets

No Header	No Header
hematopoietic system phenotype
homeostasis/metabolism phenotype
immune system phenotype
nervous system phenotype
pigmentation phenotype
skeleton phenotype
vision/eye phenotype

IDG Resources

No IDG generated resources found

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	ATP-binding cassette, sub-family A (ABC1), member 4	MGI:109424	11304
Rat	ATP binding cassette subfamily A member 4	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	ATP-binding cassette, sub-family A (ABC1), member 4
Rat	ATP binding cassette subfamily A member 4
Dog	ATP binding cassette subfamily A member 4

Publication Statistics

PubMed Score 700.05

PubMed score by year

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PubTator Score 505.07

PubTator score by year

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Related Publications

Text Mined References (214)

GeneRif Annotations (167)

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PMID	Year	Title