InnateDB: Systems Biology of the Innate Immune Response

Bos taurus Gene: ABCA4

Summary

InnateDB Gene

IDBG-636414.2

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ABCA4

Gene Name

retinal-specific ATP-binding cassette transporter

Synonyms

Species

Bos taurus

Ensembl Gene

ENSBTAG00000018010

Encoded Proteins

IDBP-688344

retinal-specific ATP-binding cassette transporter

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000198691:
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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 3:49541295-49686388

Strand

Forward strand

Band

Transcripts

ENSBTAT00000023982

ENSBTAP00000023982

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000166	nucleotide binding
GO:0004012	phospholipid-translocating ATPase activity
GO:0005524	ATP binding
GO:0005548	phospholipid transporter activity
GO:0016887	ATPase activity
GO:0017111	nucleoside-triphosphatase activity
GO:0042626	ATPase activity, coupled to transmembrane movement of substances

Biological Process

GO:0006200	ATP catabolic process
GO:0006649	phospholipid transfer to membrane
GO:0006810	transport
GO:0007601	visual perception
GO:0008152	metabolic process
GO:0045332	phospholipid translocation
GO:0045494	photoreceptor cell maintenance
GO:0055085	transmembrane transport