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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes Plasma proteins Potential drug targets Transporters
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
9
Cytoband
q34.3
Chromosome location (bp)
137007234 - 137028915
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Probable lipid transporter that modulates cholesterol sequestration in the late endosome/lysosome by regulating the intracellular sphingolipid metabolism, in turn participates in cholesterol homeostasis (Probable) 1,2,3. 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 4. 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 5,6. May play a role in myelin formation (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Translocase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Transport
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
ATP-binding, Nucleotide-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
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 highly expressed in brain tissue and may play a role in macrophage lipid metabolism and neural development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Q9BZC7 [Direct mapping] ATP-binding cassette sub-family A member 2
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Transporters Primary Active Transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based >9TM proteins predicted by MDM Plasma proteins Disease related genes Potential drug targets Human disease related genes Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
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GO:0000166[nucleotide binding] GO:0001573[ganglioside metabolic process] GO:0005319[lipid transporter activity] GO:0005524[ATP binding] GO:0005764[lysosome] GO:0005765[lysosomal membrane] GO:0005768[endosome] GO:0005815[microtubule organizing center] GO:0005886[plasma membrane] GO:0006629[lipid metabolic process] GO:0006684[sphingomyelin metabolic process] GO:0006687[glycosphingolipid metabolic process] GO:0006869[lipid transport] GO:0007626[locomotory behavior] GO:0009410[response to xenobiotic stimulus] GO:0010008[endosome membrane] GO:0016020[membrane] GO:0016021[integral component of membrane] GO:0016887[ATP hydrolysis activity] GO:0019218[regulation of steroid metabolic process] GO:0031410[cytoplasmic vesicle] GO:0032289[central nervous system myelin formation] GO:0032383[regulation of intracellular cholesterol transport] GO:0032384[negative regulation of intracellular cholesterol transport] GO:0032805[positive regulation of low-density lipoprotein particle receptor catabolic process] GO:0042626[ATPase-coupled transmembrane transporter activity] GO:0042632[cholesterol homeostasis] GO:0042986[positive regulation of amyloid precursor protein biosynthetic process] GO:0043190[ATP-binding cassette (ABC) transporter complex] GO:0043231[intracellular membrane-bounded organelle] GO:0045939[negative regulation of steroid metabolic process] GO:0046512[sphingosine biosynthetic process] GO:0048545[response to steroid hormone] GO:0055085[transmembrane transport] GO:0060049[regulation of protein glycosylation] GO:0061135[endopeptidase regulator activity] GO:0070723[response to cholesterol] GO:0071072[negative regulation of phospholipid biosynthetic process] GO:0090155[negative regulation of sphingolipid biosynthetic process] GO:0090156[cellular sphingolipid homeostasis] GO:0090370[negative regulation of cholesterol efflux] GO:0099038[ceramide floppase activity] GO:0099040[ceramide translocation] GO:0140359[ABC-type transporter activity] GO:0150104[transport across blood-brain barrier] GO:1901873[regulation of post-translational protein modification] GO:1902004[positive regulation of amyloid-beta formation] GO:1902993[positive regulation of amyloid precursor protein catabolic process] GO:1904375[regulation of protein localization to cell periphery] GO:1905598[negative regulation of low-density lipoprotein receptor activity] GO:1905601[negative regulation of receptor-mediated endocytosis involved in cholesterol transport] GO:2000008[regulation of protein localization to cell surface]
H0Y8E3 [Direct mapping] ATP-binding cassette sub-family A member 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Q9BZC7 [Direct mapping] ATP-binding cassette sub-family A member 2
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A0A087WXK5 [Direct mapping] ATP-binding cassette sub-family A member 2
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Transporters Primary Active Transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based >9TM proteins predicted by MDM Plasma proteins Disease related genes Potential drug targets Human disease related genes Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
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GO:0000166[nucleotide binding] GO:0001573[ganglioside metabolic process] GO:0005319[lipid transporter activity] GO:0005524[ATP binding] GO:0005764[lysosome] GO:0005765[lysosomal membrane] GO:0005768[endosome] GO:0005815[microtubule organizing center] GO:0005886[plasma membrane] GO:0006629[lipid metabolic process] GO:0006684[sphingomyelin metabolic process] GO:0006687[glycosphingolipid metabolic process] GO:0006869[lipid transport] GO:0007626[locomotory behavior] GO:0009410[response to xenobiotic stimulus] GO:0010008[endosome membrane] GO:0016020[membrane] GO:0016021[integral component of membrane] GO:0016887[ATP hydrolysis activity] GO:0019218[regulation of steroid metabolic process] GO:0031410[cytoplasmic vesicle] GO:0032289[central nervous system myelin formation] GO:0032383[regulation of intracellular cholesterol transport] GO:0032384[negative regulation of intracellular cholesterol transport] GO:0032805[positive regulation of low-density lipoprotein particle receptor catabolic process] GO:0042626[ATPase-coupled transmembrane transporter activity] GO:0042632[cholesterol homeostasis] GO:0042986[positive regulation of amyloid precursor protein biosynthetic process] GO:0043190[ATP-binding cassette (ABC) transporter complex] GO:0043231[intracellular membrane-bounded organelle] GO:0045939[negative regulation of steroid metabolic process] GO:0046512[sphingosine biosynthetic process] GO:0048545[response to steroid hormone] GO:0055085[transmembrane transport] GO:0060049[regulation of protein glycosylation] GO:0061135[endopeptidase regulator activity] GO:0070723[response to cholesterol] GO:0071072[negative regulation of phospholipid biosynthetic process] GO:0090155[negative regulation of sphingolipid biosynthetic process] GO:0090156[cellular sphingolipid homeostasis] GO:0090370[negative regulation of cholesterol efflux] GO:0099038[ceramide floppase activity] GO:0099040[ceramide translocation] GO:0140359[ABC-type transporter activity] GO:0150104[transport across blood-brain barrier] GO:1901873[regulation of post-translational protein modification] GO:1902004[positive regulation of amyloid-beta formation] GO:1902993[positive regulation of amyloid precursor protein catabolic process] GO:1904375[regulation of protein localization to cell periphery] GO:1905598[negative regulation of low-density lipoprotein receptor activity] GO:1905601[negative regulation of receptor-mediated endocytosis involved in cholesterol transport] GO:2000008[regulation of protein localization to cell surface]
The Human Protein Atlas project is funded
