Protein: ATP-binding cassette sub-family A member 2 (EC 7.6.2.-) (ATP-binding cassette transporter 2) (ATP-binding cassette 2) (P41234)
Organism: Mus musculus (Mouse)
Function: Probable lipid transporter that modulates cholesterol sequestration in the late endosome/lysosome by regulating the intracellular sphingolipid metabolism, in turn participates in cholesterol homeostasis. May alter the transbilayer distribution of ceramide in the intraluminal membrane lipid bilayer, favoring its retention in the outer leaflet that results in increased acid ceramidase activity in the late endosome/lysosome, facilitating ceramide deacylation to sphingosine leading to the sequestration of free cholesterol in lysosomes (By similarity). In addition regulates amyloid-beta production either by activating a signaling pathway that regulates amyloid precursor protein transcription through the modulation of sphingolipid metabolism or through its role in gamma-secretase processing of APP. May play a role in myelin formation.
Subcellular location: Endosome membrane {ECO:0000250|UniProtKB:Q9BZC7}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q9BZC7}. Lysosome membrane {ECO:0000269|PubMed:11157071}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q9BZC7}. Note=Forms discrete, punctate intracellular vesicles. {ECO:0000250|UniProtKB:Q9BZC7}.
Sequence: MGFLHQLQLLLWKNVTLKRRSPWVLAFEIFIPLVLFFILLGLRQKKPTISVKEAFYTAAPLTSAGILPVMQSLCPDGQRDEFGFLQYANSTVTQLLERLHRVVEEGNLFDPVRPSLGSELEALRQRLEALSSGPGTWESHSARPAVSSFSLDSVARDQRELWRFLMQNLSLPNSTAQALLAARVDPSEVYRLLFGPLPDLDGKLGFLRKQEPWSRLGSNPLLQMEELLLAPALLEQLTCAPGSGELGRILTMPEGHQVDLQGYRDAVCSGQATARAQRFSDLAAELRNQLDTAKIAQQLGFDVPNGSDPQPQAPSPQSLPALLGDLLDAQKLLQDVDVLSALALLLPQGACAGQASAPQASSLNGLANSTGIGANSGSNTTVEEGTQSPVSPASPDTLQGQCSAFVQLWAGLQPILCGNNRTIEPEALRRGNMSSLGFTSKEQRNLGLLVHLMTSNPKILYAPVGSEADRVILKANETFAFVGNVTHYAQVWLNISTEIRSFLEQGRLQQHLQWLQQYVADLQLHPEAMNLSLEELPPALRQDFSLPNGTALLQQLDTIDNAACGWIQFMSKVSVDIFKGFPDEESIVNYTLNQAYQDNVTVFASVIFQTRKDGSLPPHVHYKIRQNSSFTEKTNEIRRAYWRPGPNTGGRFYFLYGLRLDQDMMERAIINTFVGHDVVEPGNYVQMFPYPCYTRDDFLFVIEHMMPLCMVISWVYSVAMTIQHIVAEKEHRLKEVMKTMGLNNAVHWVAWFITGFVQLSISVTALTAILKYCQVLMHSHVLIIWLFLAVYAVATIMFCFLVSVLYSKAKLASACGGIIYFLSYVPYMYVAIREEVAHDKITAFEKCIASRCPQQPLAWVPSTLHCMKWQEWASIQWHTFSQSPVEGDDFNLLLAVTMLMVDTVVYGVLTWYIEAVHPGMYGLPRPWYSRYRSPIGWAVGGQKPGSGAGHGHTHRASALWRRIQACAMESRHFEETRGMEEEPTHLPLVVCVDKLTKVYKNDKKLALNKLSLNLYENQVVSFLGHNGAGKTTTMSILTGLFPPTSGSATIYGHDIRTEMDEIRKNLGMCPQHNVLFDRLTVEEHLWFYSRLKSMAQEEIRKETDKMIEDLELSNKRHSLVQTLSGGMKRKLSVAIAFVGGSRAIILDEPTAGVDPYARRAIWDLILKYKPGRTILLSTHHMDEADLLGDRIAIISHGKLKCCGSPLFLKGAYGDGYRLTLVKQPAEPGTSQEPGLASSPSGCPRLSSCSEPQVSQFIRKHVASSLLVSDTSTELSYILPSEAVKKGAFERLFQQLEHSLDALHLSSFGLMDTTLEEVFLKVSEEDQSLENSEADVKESRKDVLPGAEGLTAVGGQAGNLARCSELAQSQASLQSASSVGSARGEEGTGYSDGYGDYRPLFDNLQDPDNVSLQEAEMEALAQVGQGSRKLEGWWLKMRQFHGLLVKRFHCARRNSKALCSQILLPAFFVCVAMTVALSVPEIGDLPPLVLSPSQYHNYTQPRGNFIPYANEERQEYRLRLSPDASPQQLVSTFRLPSGVGATCVLKSPANGSLGPMLNLSSGESRLLAARFFDSMCLESFTQGLPLSNFVPPPPSPAPSDSPVSPDEDSLQAWNMSLPPTAGPETWTSAPSLPRLVHEPVRCTCSAQGTGFSCPSSVGGHPPQMRVVTGDILTDITGHNVSEYLLFTSDRFRLHRYGAITFGNVQKSIPASFGARVPPMVRKIAVRRVAQVLYNNKGYHSMPTYLNSLNNAILRANLPKSKGNPAAYGITVTNHPMNKTSASLSLDYLLQGTDVVIAIFIIVAMSFVPASFVVFLVAEKSTKAKHLQFVSGCNPVIYWLANYVWDMLNYLVPATCCVIILFVFDLPAYTSPTNFPAVLSLFLLYGWSITPIMYPASFWFEVPSSAYVFLIVINLFIGITATVATFLLQLFEHDKDLKVVNSYLKSCFLIFPNYNLGHGLMEMAYNEYINEYYAKIGQFDKMKSPFEWDIVTRGLVAMTVEGFVGFFLTIMCQYNFLRQPQRLPVSTKPVEDDVDVASERQRVLRGDADNDMVKIENLTKVYKSRKIGRILAVDRLCLGVRPGECFGLLGVNGAGKTSTFKMLTGDESTTGGEAFVNGHSVLKDLLQVQQSLGYCPQFDALFDELTAREHLQLYTRLRGIPWKDEAQVVKWALEKLELTKYADKPAGTYSGGNKRKLSTAIALIGYPAFIFLDEPTTGMDPKARRFLWNLILDLIKTGRSVVLTSHSMEECEALCTRLAIMVNGRLRCLGSIQHLKNRFGDGYMITVRTKSSQNVKDVVRFFNRNFPEAMLKERHHTKVQYQLKSEHISLAQVFSKMEQVVGVLGIEDYSVSQTTLDNVFVNFAKKQSDNVEQQEAEPSSLPSPLGLLSLLRPRPAPTELRALVADEPEDLDTEDEGLISFEEERAQLSFNTDTLC
InterPro domains: - IPR013525: ABC-2 type transporter, transmembrane domain (domain) [705-2008]
- IPR017871: ABC transporter-like, conserved site (conserved_site) [1123-1137]
- IPR003593: AAA+ ATPase domain (domain) [1016-2265]
- IPR027417: P-loop containing nucleoside triphosphate hydrolase (homologous_superfamily) [980-2317]
- IPR003439: ABC transporter-like, ATP-binding domain (domain) [990-2286]
- IPR056264: ABCA1-4-like, C-terminal R2 regulatory domain (domain) [2278-2351]
- IPR026082: ABC transporter A (family) [2024-2373]
Gene Ontology annotations:
Molecular Function (MF): GO:0003674 (molecular function), GO:0005215 (transporter activity), GO:0140657 (ATP-dependent activity), GO:0140326 (ATPase-coupled intramembrane lipid transporter activity), GO:0005319 (lipid transporter activity), GO:0042626 (ATPase-coupled transmembrane transporter activity), GO:0022857 (transmembrane transporter activity), GO:0140303 (intramembrane lipid transporter activity), GO:0005548 (phospholipid transporter activity), GO:0140327 (flippase activity), GO:0022804 (active transmembrane transporter activity), GO:0015399 (primary active transmembrane transporter activity), GO:0140333 (glycerophospholipid flippase activity)
Biological Process (BP): GO:0008150 (biological process), GO:0051179 (localization), GO:0048518 (positive regulation of biological process), GO:0050789 (regulation of biological process), GO:0032501 (multicellular organismal process), GO:0065007 (biological regulation), GO:0032502 (developmental process), GO:0009987 (cellular process), GO:0048519 (negative regulation of biological process), GO:0048869 (cellular developmental process), GO:0048856 (anatomical structure development), GO:0007275 (multicellular organism development), GO:0009653 (anatomical structure morphogenesis), GO:0019222 (regulation of metabolic process), GO:0051240 (positive regulation of multicellular organismal process), GO:0051234 (establishment of localization), GO:0071840 (cellular component organization or biogenesis), GO:0051239 (regulation of multicellular organismal process), GO:0007272 (ensheathment of neurons), GO:0048646 (anatomical structure formation involved in morphogenesis), GO:0009892 (negative regulation of metabolic process), GO:0050793 (regulation of developmental process), GO:0050794 (regulation of cellular process), GO:0140352 (export from cell), GO:0051094 (positive regulation of developmental process), GO:0048523 (negative regulation of cellular process), GO:0048522 (positive regulation of cellular process), GO:0032989 (cellular component morphogenesis), GO:0045597 (positive regulation of cell differentiation), GO:0051172 (negative regulation of nitrogen compound metabolic process), GO:0044085 (cellular component biogenesis), GO:0008366 (axon ensheathment), GO:0048468 (cell development), GO:0030154 (cell differentiation), GO:0048731 (system development), GO:0048513 (animal organ development), GO:0060255 (regulation of macromolecule metabolic process), GO:0031324 (negative regulation of cellular metabolic process), GO:0035295 (tube development), GO:0000902 (cell morphogenesis), GO:2000026 (regulation of multicellular organismal development), GO:0006629 (lipid metabolic process), GO:0009888 (tissue development), GO:0010605 (negative regulation of macromolecule metabolic process), GO:0006810 (transport), GO:0009889 (regulation of biosynthetic process), GO:0051171 (regulation of nitrogen compound metabolic process), GO:0045595 (regulation of cell differentiation), GO:0032940 (secretion by cell), GO:0016043 (cellular component organization), GO:0031323 (regulation of cellular metabolic process), GO:0009890 (negative regulation of biosynthetic process), GO:0080090 (regulation of primary metabolic process), GO:0010927 (cellular component assembly involved in morphogenesis), GO:0035239 (tube morphogenesis), GO:0045598 (regulation of fat cell differentiation), GO:0051216 (cartilage development), GO:0010556 (regulation of macromolecule biosynthetic process), GO:0055123 (digestive system development), GO:0051246 (regulation of protein metabolic process), GO:0010256 (endomembrane system organization), GO:0061448 (connective tissue development), GO:0051248 (negative regulation of protein metabolic process), GO:0071702 (organic substance transport), GO:0046903 (secretion), GO:1903018 (regulation of glycoprotein metabolic process), GO:0045229 (external encapsulating structure organization), GO:0046879 (hormone secretion), GO:0006811 (monoatomic ion transport), GO:0010468 (regulation of gene expression), GO:0022607 (cellular component assembly), GO:0006869 (lipid transport), GO:0030324 (lung development), GO:0030323 (respiratory tube development), GO:0034248 (regulation of amide metabolic process), GO:0030323 (respiratory tube development), GO:0034248 (regulation of amide metabolic process), GO:0031326 (regulation of cellular biosynthetic process), GO:0060541 (respiratory system development), GO:0010558 (negative regulation of macromolecule biosynthetic process), GO:0031327 (negative regulation of cellular biosynthetic process), GO:0002244 (hematopoietic progenitor cell differentiation), GO:0060429 (epithelium development), GO:0006996 (organelle organization), GO:0051174 (regulation of phosphorus metabolic process), GO:0061024 (membrane organization), GO:0033363 (secretory granule organization), GO:0015914 (phospholipid transport), GO:0150104 (transport across blood-brain barrier), GO:0006812 (monoatomic cation transport), GO:0015748 (organophosphate ester transport), GO:0071072 (negative regulation of phospholipid biosynthetic process), GO:1902003 (regulation of amyloid-beta formation), GO:0051603 (proteolysis involved in protein catabolic process), GO:0019220 (regulation of phosphate metabolic process), GO:1903725 (regulation of phospholipid metabolic process), GO:0030198 (extracellular matrix organization), GO:2000112 (regulation of cellular macromolecule biosynthetic process), GO:0007009 (plasma membrane organization), GO:0006417 (regulation of translation), GO:2000113 (negative regulation of cellular macromolecule biosynthetic process), GO:0045936 (negative regulation of phosphate metabolic process), GO:0010608 (post-transcriptional regulation of gene expression), GO:0042325 (regulation of phosphorylation), GO:0045055 (regulated exocytosis), GO:0046942 (carboxylic acid transport), GO:0009743 (response to carbohydrate), GO:0040013 (negative regulation of locomotion), GO:0031327 (negative regulation of cellular biosynthetic process), GO:0050727 (regulation of inflammatory response), GO:0043281 (regulation of cysteine-type endopeptidase activity involved in apoptotic process)
Cellular Component (CC): GO:0005575 (cellular component), GO:0110165 (cellular anatomical entity), GO:0030054 (cell junction), GO:0045202 (synapse)