ABCA12 report

I. Expression across cell types

Insufficient scRNA-seq data for expression of ABCA12 at single-cell level.

II. Expression across tissues

sc-RNAseq data

Insufficient scRNA-seq data for expression of ABCA12 at tissue level.

III. Associated gene sets

GO_0072659Biological processprotein localization to plasma membrane
GO_0061436Biological processestablishment of skin barrier
GO_0055085Biological processtransmembrane transport
GO_0031424Biological processkeratinization
GO_0006672Biological processceramide metabolic process
GO_0006886Biological processintracellular protein transport
GO_0035627Biological processceramide transport
GO_0032379Biological processpositive regulation of intracellular lipid transport
GO_0033700Biological processphospholipid efflux
GO_0006869Biological processlipid transport
GO_2000010Biological processpositive regulation of protein localization to cell surface
GO_0019725Biological processcellular homeostasis
GO_0045616Biological processregulation of keratinocyte differentiation
GO_0045055Biological processregulated exocytosis
GO_0032940Biological processsecretion by cell
GO_0003336Biological processcorneocyte desquamation
GO_0061178Biological processregulation of insulin secretion involved in cellular response to glucose stimulus
GO_0010875Biological processpositive regulation of cholesterol efflux
GO_0043129Biological processsurfactant homeostasis
GO_0043589Biological processskin morphogenesis
GO_0055088Biological processlipid homeostasis
GO_0034204Biological processlipid translocation
GO_0033344Biological processcholesterol efflux
GO_0048286Biological processlung alveolus development
GO_0097209Cellular componentepidermal lamellar body
GO_0005886Cellular componentplasma membrane
GO_0016020Cellular componentmembrane
GO_0097234Cellular componentepidermal lamellar body membrane
GO_0000139Cellular componentGolgi membrane
GO_0005829Cellular componentcytosol
GO_0005737Cellular componentcytoplasm
GO_0043231Cellular componentintracellular membrane-bounded organelle
GO_0030658Cellular componenttransport vesicle membrane
GO_0034191Molecular functionapolipoprotein A-I receptor binding
GO_0140359Molecular functionABC-type transporter activity
GO_0140326Molecular functionATPase-coupled intramembrane lipid transporter activity
GO_0005102Molecular functionsignaling receptor binding
GO_0005524Molecular functionATP binding
GO_0005319Molecular functionlipid transporter activity
GO_0042626Molecular functionATPase-coupled transmembrane transporter activity
GO_0005515Molecular functionprotein binding
GO_0034040Molecular functionATPase-coupled lipid transmembrane transporter activity
GO_0016887Molecular functionATP hydrolysis activity

IV. Literature review

[source]
Gene nameABCA12
Protein nameGlucosylceramide transporter ABCA12 (EC 7.6.2.1) (ATP-binding cassette sub-family A member 12) (ATP-binding cassette transporter 12) (ATP-binding cassette 12)
ATP binding cassette subfamily A member 12
SynonymsABC12
DescriptionFUNCTION: Transports lipids such as glucosylceramides from the outer to the inner leaflet of lamellar granules (LGs) membrane, whereby the lipids are finally transported to the keratinocyte periphery via the trans-Golgi network and LGs and released to the apical surface of the granular keratinocytes to form lipid lamellae in the stratum corneum of the epidermis, which is essential for skin barrier function . In the meantime, participates in the transport of the lamellar granules-associated proteolytic enzymes, in turn regulates desquamation and keratinocyte differentiation . Furthermore, is essential for the regulation of cellular cholesterol homeostasis by regulating ABCA1-dependent cholesterol efflux from macrophages through interaction with NR1H2 and ABCA1 (By similarity). Plays pleiotropic roles in regulating glucose stimulated insulin secretion from beta cells, regulating the morphology and fusion of insulin granules, lipid raft abundance and the actin cytoskeleton (By similarity). Also involved in lung surfactant biogenesis (By similarity). .

AccessionsE9PBK1
Q86UK0
ENST00000412081.1
ENST00000389661.4 [Q86UK0-2]
ENST00000272895.12 [Q86UK0-1]