ABCA4 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0007601Biological processvisual perception
GO_0055085Biological processtransmembrane transport
GO_0006649Biological processphospholipid transfer to membrane
GO_0045494Biological processphotoreceptor cell maintenance
GO_0006869Biological processlipid transport
GO_0001523Biological processretinoid metabolic process
GO_0007603Biological processphototransduction, visible light
GO_0042574Biological processretinal metabolic process
GO_0045332Biological processphospholipid translocation
GO_0034633Biological processretinol transport
GO_0005886Cellular componentplasma membrane
GO_0120202Cellular componentrod photoreceptor disc membrane
GO_0031410Cellular componentcytoplasmic vesicle
GO_0001750Cellular componentphotoreceptor outer segment
GO_0016020Cellular componentmembrane
GO_0097381Cellular componentphotoreceptor disc membrane
GO_0005783Cellular componentendoplasmic reticulum
GO_0043231Cellular componentintracellular membrane-bounded organelle
GO_0140347Molecular functionN-retinylidene-phosphatidylethanolamine flippase activity
GO_0140359Molecular functionABC-type transporter activity
GO_0140326Molecular functionATPase-coupled intramembrane lipid transporter activity
GO_0034632Molecular functionretinol transmembrane transporter activity
GO_0090555Molecular functionphosphatidylethanolamine flippase activity
GO_0005548Molecular functionphospholipid transporter activity
GO_0005524Molecular functionATP binding
GO_0042626Molecular functionATPase-coupled transmembrane transporter activity
GO_0140327Molecular functionflippase activity
GO_0005501Molecular functionretinoid binding
GO_0005503Molecular functionall-trans retinal binding
GO_0005502Molecular function11-cis retinal binding
GO_0016887Molecular functionATP hydrolysis activity
GO_0003924Molecular functionGTPase activity

IV. Literature review

[source]
Gene nameABCA4
Protein nameATP binding cassette subfamily A member 4
Retinal-specific phospholipid-transporting ATPase ABCA4 (EC 7.6.2.1) (ATP-binding cassette sub-family A member 4) (RIM ABC transporter) (RIM proteinv) (RmP) (Retinal-specific ATP-binding cassette transporter) (Stargardt disease protein)
SynonymsABCR
DescriptionFUNCTION: Flippase that catalyzes in an ATP-dependent manner the transport of retinal-phosphatidylethanolamine conjugates like the 11-cis and all-trans isomers of N-retinylidene-phosphatidylethanolamine from the lumen to the cytoplasmic leaflet of photoreceptor outer segment disk membranes, where N-cis-retinylidene-phosphatidylethanolamine (N-cis-R-PE) is then isomerized to its all-trans isomer (N-trans-R-PE) and reduced by RDH8 to produce all-trans-retinol (all-trans-rol) and therefore prevents the accumulation of excess of 11-cis-retinal and its schiff-base conjugate and the formation of toxic bisretinoid . May display both ATPase and GTPase activity that is strongly influenced by the lipid environment and the presence of retinoid compounds . Binds the unprotonated form of N-retinylidene-phosphatidylethanolamine with high affinity in the absence of ATP, and ATP binding and hydrolysis induce a protein conformational change that causes the dissociation of N-retinylidene-phosphatidylethanolamine (By similarity). .

AccessionsENST00000370225.4
P78363
A0A3B3IRV8
ENST00000649773.1