InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: ABCA4

Summary

InnateDB Gene

IDBG-100358.6

Last Modified

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

Gene Symbol

ABCA4

Gene Name

ATP-binding cassette, sub-family A (ABC1), member 4

Synonyms

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

Species

Homo sapiens

Ensembl Gene

ENSG00000198691

Encoded Proteins

IDBP-100360

ATP-binding cassette, sub-family A (ABC1), member 4

IDBP-586777

ATP-binding cassette, sub-family A (ABC1), member 4

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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 1:93992835-94121132

Strand

Reverse strand

Band

p22.1

Transcripts

ENST00000370225	ENSP00000359245
ENST00000465352
ENST00000484388
ENST00000470771
ENST00000460514
ENST00000472033
ENST00000536513	ENSP00000439707

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	1 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004012	phospholipid-translocating ATPase activity
GO:0005215	transporter activity
GO:0005524	ATP binding
GO:0005548	phospholipid transporter activity
GO:0016887	ATPase activity
GO:0042626	ATPase activity, coupled to transmembrane movement of substances

Biological Process

GO:0001523	retinoid metabolic process
GO:0006200	ATP catabolic process
GO:0006649	phospholipid transfer to membrane
GO:0006810	transport
GO:0007601	visual perception
GO:0007603	phototransduction, visible light
GO:0045332	phospholipid translocation
GO:0045494	photoreceptor cell maintenance
GO:0055085	transmembrane transport

Cellular Component

GO:0005887	integral component of plasma membrane
GO:0016020	membrane
GO:0097381	photoreceptor disc membrane

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000028125

View Gene Order

ENSBTAG00000018010

Not yet available

Pathways

NETPATH

REACTOME

REACT_15480

ABC-family proteins mediated transport pathway

REACT_160156

The canonical retinoid cycle in rods (twilight vision) pathway

REACT_15518

Transmembrane transport of small molecules pathway

REACT_111102

Signal Transduction pathway

REACT_160102

Diseases associated with visual transduction pathway

REACT_160125

Visual phototransduction pathway

REACT_116125

Disease pathway

KEGG

hsa02010

ABC transporters pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.416707

RefSeq

NM_000350

HUGO

OMIM

CCDS

CCDS747

HPRD

03408

IMGT

EMBL

GenPept

RNA Seq Atlas